AiPD: Autoinhibited Protein Database

Q9UP38

Gene name	FZD1
Protein name	Frizzled-1
Names	Fz-1, hFz1, FzE1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8321
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-136 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-136 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

3 structures for Q9UP38

Entry ID	Method	Resolution	Chain	Position	Source
8J9N	EM	350 A	B	69-647	PDB
8J9O	EM	340 A			PDB
AF-Q9UP38-F1	Predicted				AlphaFoldDB

527 variants for Q9UP38

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1303955165 CA368111473	2	A>S		No	ClinGen TOPMed
rs1303955165 CA368111471	2	A>T		No	ClinGen TOPMed
CA368111475 rs1467211914	2	A>V		No	ClinGen gnomAD
CA162820337 rs909653277	6	A>E		No	ClinGen TOPMed gnomAD
rs909653277 CA368111504	6	A>V		No	ClinGen TOPMed gnomAD
rs938351976 CA368111513	8	K>*		No	ClinGen gnomAD
rs938351976 CA162820338	8	K>E		No	ClinGen gnomAD
rs1056767061 CA162820339	8	K>T		No	ClinGen Ensembl
rs750107627 CA4335040	10	S>T		No	ClinGen ExAC TOPMed gnomAD
rs762530466 CA368111533	11	R>P		No	ClinGen ExAC TOPMed gnomAD
rs762530466 CA4335041	11	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1014467401 CA368111539	12	A>G		No	ClinGen TOPMed gnomAD
rs1014467401 CA162820341	12	A>V		No	ClinGen TOPMed gnomAD
CA368111540 rs1441813156	13	A>T		No	ClinGen gnomAD
rs765901117 CA4335042	14	G>S		No	ClinGen ExAC TOPMed gnomAD
CA368111551 rs1446610778	15	G>S		No	ClinGen gnomAD
rs755525834 CA4335044	16	G>D		No	ClinGen ExAC gnomAD
CA368111559 rs1194238539	16	G>S		No	ClinGen TOPMed
CA368111566 rs1204031730	17	A>G		No	ClinGen TOPMed
rs1420406058 CA368111562	17	A>T		No	ClinGen TOPMed gnomAD
CA368111569 rs1257363545	18	S>G		No	ClinGen TOPMed
rs1222098993 CA368111575	18	S>R		No	ClinGen TOPMed
CA162820342 rs887932162	21	L>I		No	ClinGen TOPMed gnomAD
CA4335046 rs753069708	22	C>Y		No	ClinGen ExAC gnomAD
rs1342646410 CA368111610	23	A>V		No	ClinGen gnomAD
CA162820343 rs1002096196	24	G>E		No	ClinGen TOPMed gnomAD
CA368111611 rs1444030438	24	G>R		No	ClinGen gnomAD
rs1027439486 CA162820344	25	A>G		No	ClinGen TOPMed gnomAD
TCGA novel	25	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1027439486 CA368111619	25	A>V		No	ClinGen TOPMed gnomAD
CA368111626 rs1396651918	26	L>R		No	ClinGen TOPMed
CA368111634 rs1395872839	28	A>T		No	ClinGen gnomAD
rs1428274719 CA368111642	29	R>P		No	ClinGen TOPMed
CA368111649 rs1257931729	31	A>T		No	ClinGen gnomAD
rs1171306492 CA368111654	31	A>V		No	ClinGen TOPMed
CA4335051 rs779185373	33	E>G		No	ClinGen ExAC TOPMed gnomAD
rs757506473 CA4335050	33	E>K		No	ClinGen ExAC
CA368111672 rs1584242938	34	G>A		No	ClinGen Ensembl
rs745913961 CA4335052	34	G>S		No	ClinGen ExAC gnomAD
CA368111683 CA368111682 rs1376049227	36	G>R		No	ClinGen gnomAD
rs1257860494 CA368111696	38	A>T		No	ClinGen TOPMed
rs1465925703 CA368111705	39	G>D		No	ClinGen gnomAD
CA368111702 rs1461146482	39	G>S		No	ClinGen TOPMed
rs1464374630 CA368111717	41	R>H		No	ClinGen gnomAD
CA368111720 rs1200891699	42	R>C		No	ClinGen TOPMed
rs1331148633 CA368111723	42	R>H		No	ClinGen gnomAD
rs965671131 CA162820347	43	R>C		No	ClinGen TOPMed gnomAD
rs997958051 CA162820348	43	R>H		No	ClinGen TOPMed
CA4335054 rs776620932	44	P>R		No	ClinGen ExAC TOPMed
rs1342295604 CA368111732	44	P>S		No	ClinGen TOPMed
CA368111753 rs1401300758	47	D>E		No	ClinGen TOPMed
rs1452108003 CA368111752	47	D>G		No	ClinGen TOPMed
CA4335055 rs554909047	48	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4335056 rs554909047	48	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1332682566 CA368111763	49	R>Q		No	ClinGen TOPMed gnomAD
rs1472847568 CA368111778	52	A>P		No	ClinGen TOPMed
rs1257712065 CA368111785	53	R>H		No	ClinGen gnomAD
rs1258542871 CA368111801	56	L>M		No	ClinGen gnomAD
CA368111807 rs1458371265	57	L>V		No	ClinGen gnomAD
CA368111813 rs1179180454	58	L>P		No	ClinGen gnomAD
CA4335058 rs772947349	59	L>F		No	ClinGen ExAC TOPMed gnomAD
CA162820351 rs772947349	59	L>I		No	ClinGen ExAC TOPMed gnomAD
rs979669443 CA162820352	61	L>M		No	ClinGen TOPMed gnomAD
rs1199739561 CA368111831	61	L>P		No	ClinGen gnomAD
rs979669443 CA368111829	61	L>V		No	ClinGen TOPMed gnomAD
rs866903038 CA162820353	62	L>M		No	ClinGen Ensembl
rs142085794 CA162820354	64	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142085794 CA4335059	64	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368111866 rs1358572204	68	L>V		No	ClinGen TOPMed
CA162820356 rs891811319	69	G>A		No	ClinGen TOPMed
rs1438208600 CA368111877	70	V>F		No	ClinGen TOPMed gnomAD
CA162820357 rs977241948	71	R>P		No	ClinGen gnomAD
rs574691354 CA4335060	71	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1311686668 CA368111884	72	A>T		No	ClinGen TOPMed
CA4335061 rs557713242	74	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368111902 rs557713242	74	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1028239110 CA162820360	75	A>V		No	ClinGen TOPMed gnomAD
rs1389326253 CA368111925	78	G>A		No	ClinGen TOPMed gnomAD
CA162820362 rs368968709	80	G>D		No	ClinGen Ensembl
rs767964823 CA4335064	80	G>R		No	ClinGen ExAC TOPMed gnomAD
CA368111945 rs1302817813	81	Q>H		No	ClinGen gnomAD
rs1004645902 CA162820363	83	P>S		No	ClinGen TOPMed gnomAD
CA368111957 rs1278536573	84	G>R		No	ClinGen gnomAD
rs1014656110 CA162820364	85	P>L		No	ClinGen TOPMed
rs756511034 CA4335066	86	G>R		No	ClinGen ExAC
rs754232711 CA4335070	89	P>L		No	ClinGen ExAC gnomAD
TCGA novel	92	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4335077 rs529145118	94	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563575931 CA4335076	94	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368112027 rs1193581660	95	Q>*		No	ClinGen gnomAD
CA4335078 rs779934443	95	Q>P		No	ClinGen ExAC gnomAD
CA4335080 rs769565425	96	Q>R		No	ClinGen ExAC gnomAD
rs1403826346 CA368112045	97	Q>H		No	ClinGen TOPMed
rs1367499438 CA368112054	98	S>R		No	ClinGen gnomAD
CA368112057 rs1360544877	99	G>E		No	ClinGen TOPMed
rs773037088 CA4335081	99	G>R		No	ClinGen ExAC gnomAD
CA4335082 rs749049302	102	Y>C		No	ClinGen ExAC gnomAD
rs770635483 CA4335083	103	N>H		No	ClinGen ExAC gnomAD
rs375051170 CA4335084	103	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368112089 rs1311829566	104	G>S		No	ClinGen gnomAD
rs1406776578 CA368112099	105	E>D		No	ClinGen TOPMed
rs959977879 CA162820367	105	E>K		No	ClinGen TOPMed gnomAD
CA162820366 rs959977879	105	E>Q		No	ClinGen TOPMed gnomAD
rs759052167 CA4335085	106	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1487368309 CA368112102	106	R>Q		No	ClinGen gnomAD
rs759052167 CA368112101	106	R>W		No	ClinGen ExAC TOPMed gnomAD
CA368112109 rs767058121	107	G>A		No	ClinGen ExAC TOPMed gnomAD
rs767058121 CA4335086	107	G>V		No	ClinGen ExAC TOPMed gnomAD
CA4335087 rs774814084	108	I>N		No	ClinGen ExAC gnomAD
rs1487159468 CA368112111	108	I>V		No	ClinGen gnomAD
CA162820368 rs992945609	109	S>T		No	ClinGen Ensembl
CA4335091 rs754322513	110	V>D		No	ClinGen ExAC gnomAD
rs754322513 CA4335090	110	V>G		No	ClinGen ExAC gnomAD
rs377459455 CA162820370	111	P>L		No	ClinGen Ensembl
CA368112139 rs1446684619	113	H>D		No	ClinGen TOPMed
COSM1452731 rs751566731 CA4335096	114	G>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs988874488 CA162820371	115	Y>F		No	ClinGen TOPMed
CA368112162 rs1584243208	116	C>S		No	ClinGen Ensembl
CA162820372 rs942183361	118	P>L		No	ClinGen Ensembl
TCGA novel	118	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749138157 CA4335099	119	I>N		No	ClinGen ExAC gnomAD
rs777680747 CA4335098	119	I>V		No	ClinGen ExAC gnomAD
CA368112201 rs1453604982	122	P>L		No	ClinGen gnomAD
rs1453604982 CA368112200	122	P>Q		No	ClinGen gnomAD
CA4335102 rs149357966	128	A>V		No	ClinGen ESP ExAC gnomAD
CA368112256 rs1344281621	130	N>K		No	ClinGen TOPMed
rs1319234441 CA368112254	130	N>S		No	ClinGen gnomAD
rs898110856 CA162820374	131	Q>H		No	ClinGen Ensembl
CA368112277 rs1255701930	133	I>M		No	ClinGen gnomAD
CA368112275 rs1208654788	133	I>T		No	ClinGen gnomAD
CA4335104 rs775107631	137	L>V		No	ClinGen ExAC gnomAD
rs769346857 CA4335106	139	G>V		No	ClinGen ExAC gnomAD
CA368112322 rs1427554766	140	H>Q		No	ClinGen TOPMed
CA368112328 rs1176154961	141	T>M		No	ClinGen TOPMed
rs777293881 CA4335107	142	N>H		No	ClinGen ExAC TOPMed gnomAD
CA368112396 rs1470820699	151	H>P		No	ClinGen gnomAD
rs1238287774 CA368112409	153	F>V		No	ClinGen TOPMed
CA4335112 rs766475224	155	P>L		No	ClinGen ExAC
rs755035659 CA4335114	159	V>M		No	ClinGen ExAC gnomAD
CA368112463 rs1563007664	161	C>Y		No	ClinGen Ensembl
CA368112472 rs1212441651	162	S>F		No	ClinGen TOPMed
rs745620349 CA4335119	166	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745620349 CA368112499	166	K>T		No	ClinGen ExAC TOPMed gnomAD
CA162820375 rs771826054	167	F>L		No	ClinGen ExAC TOPMed gnomAD
CA368112504 rs1563007675	167	F>V		No	ClinGen Ensembl
CA368112520 rs1324941364	169	L>P		No	ClinGen gnomAD
CA4335122 rs746616682	174	A>E		No	ClinGen ExAC gnomAD
rs1456999721 CA368112562	175	P>L		No	ClinGen gnomAD
CA162820376 rs937596409	176	V>A		No	ClinGen TOPMed
CA4335125 rs762437358	177	C>G		No	ClinGen ExAC gnomAD
CA162820377 rs1052225120	179	V>A		No	ClinGen Ensembl
CA4335127 rs773662622	179	V>L		No	ClinGen ExAC gnomAD
CA162820378 rs541996570	183	A>E		No	ClinGen Ensembl
CA162820379 rs1021665247	187	C>G		No	ClinGen Ensembl
CA368112638 rs1466437511	188	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs757226244 CA4335134	188	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4335136 rs757226244	188	R>L		No	ClinGen ExAC TOPMed gnomAD
rs757226244 CA4335135	188	R>P		No	ClinGen ExAC TOPMed gnomAD
CA162820380 rs200651234	189	S>P		No	ClinGen gnomAD
CA368112646 rs1274652473	190	L>Q		No	ClinGen gnomAD
CA368112657 rs1220181607	192	E>K		No	ClinGen gnomAD
rs1220181607 CA368112658	192	E>Q		No	ClinGen gnomAD
rs746687511 CA4335140	193	R>G		No	ClinGen ExAC gnomAD
rs780894315 CA4335141	193	R>L		No	ClinGen ExAC gnomAD
rs746687511 CA4335139	193	R>S		No	ClinGen ExAC gnomAD
rs1185499359 CA368112670	194	A>S		No	ClinGen TOPMed
rs770493888 CA4335143	194	A>V		No	ClinGen ExAC gnomAD
CA368112683 rs1421872447	196	Q>R		No	ClinGen TOPMed gnomAD
rs1407256117 CA368112715	201	L>I		No	ClinGen gnomAD
rs1340503008 CA368112723	202	M>V		No	ClinGen gnomAD
rs148076270 CA368112737	203	N>K		No	ClinGen ESP TOPMed gnomAD
rs757876150 CA4335147 COSM4162494	205	F>L	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs759776876 CA4335148	208	Q>*		No	ClinGen ExAC gnomAD
rs1227396990 CA368112769	208	Q>P		No	ClinGen gnomAD
CA368112771 rs1227396990	208	Q>R		No	ClinGen gnomAD
CA368112801 rs1361012717	212	T>M		No	ClinGen gnomAD
CA368112797 rs1327013250	212	T>P		No	ClinGen gnomAD
rs1262354665 CA368112813	214	K>T		No	ClinGen gnomAD
rs375615564 CA162820385	216	E>G		No	ClinGen ESP TOPMed
TCGA novel	216	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368112833 rs1447552283	217	K>E		No	ClinGen gnomAD
CA162820386 rs202087736	218	F>L		No	ClinGen Ensembl
CA4335152 rs764174904	219	P>L		No	ClinGen ExAC gnomAD
CA368112859 rs1380171458	221	H>Y		No	ClinGen TOPMed
CA368112872 rs1471896225	222	G>V		No	ClinGen gnomAD
rs953040877 CA162820387	225	E>Q		No	ClinGen TOPMed gnomAD
rs1426604246 CA368112893	226	L>V		No	ClinGen gnomAD
CA4335153 rs369203224	230	Q>R		No	ClinGen ESP ExAC gnomAD
rs758313232 CA4335154	232	T>K		No	ClinGen ExAC gnomAD
rs758313232 CA368112936	232	T>M		No	ClinGen ExAC gnomAD
rs1315337038 CA368112968	237	T>N		No	ClinGen gnomAD
CA4335158 rs780990701	239	T>M		No	ClinGen ExAC gnomAD
CA4335159 rs373279227	240	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs992747140 CA162820388	243	L>P		No	ClinGen Ensembl
rs1441658373 CA368112999	243	L>V		No	ClinGen gnomAD
CA368113008 rs1184026542	244	P>L		No	ClinGen gnomAD
rs771421343 CA4335163	247	W>C		No	ClinGen ExAC gnomAD
rs377303160 CA162820389	247	W>R		No	ClinGen ESP gnomAD
CA368113037 rs1384880200	248	T>I		No	ClinGen TOPMed
CA162820390 rs956567871	249	S>N		No	ClinGen TOPMed gnomAD
CA368113049 rs1400451046	250	N>S		No	ClinGen gnomAD
CA4335166 rs772338017	252	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs772338017 CA368113060	252	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA4335167 rs775700785	252	Q>L		No	ClinGen ExAC gnomAD
CA4335170 rs776721357	254	G>D		No	ClinGen ExAC gnomAD
CA4335169 rs768647155	254	G>R		No	ClinGen ExAC TOPMed gnomAD
CA368113081 rs1480296118	255	G>D		No	ClinGen TOPMed
CA368113078 rs1335868430	255	G>S		No	ClinGen gnomAD
rs987926317 CA162820392	256	G>E		No	ClinGen TOPMed gnomAD
CA4335171 rs762843825	257	G>E		No	ClinGen ExAC TOPMed gnomAD
rs879037012 CA162820395	258	H>D		No	ClinGen Ensembl
CA4335172 rs766305637	259	R>P		No	ClinGen ExAC TOPMed gnomAD
rs759395222 CA4335174	261	G>D		No	ClinGen ExAC TOPMed gnomAD
CA368113112 rs1484574228	261	G>R		No	ClinGen TOPMed gnomAD
rs1484574228 CA368113111	261	G>S		No	ClinGen TOPMed gnomAD
CA162820396 rs759395222	261	G>V		No	ClinGen ExAC TOPMed gnomAD
CA368113116 rs1196989236	262	F>L		No	ClinGen gnomAD
rs1305449013 CA368113128	263	P>L		No	ClinGen TOPMed
CA4335180 rs753366851	264	G>A		No	ClinGen ExAC gnomAD
CA368113132 rs753366851	264	G>E		No	ClinGen ExAC gnomAD
CA4335182 rs199856015	265	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4335181 rs199856015	265	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	266	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4335185 rs772427888	267	G>D		No	ClinGen ExAC gnomAD
rs1408766136 CA368113145	267	G>R		No	ClinGen gnomAD
rs747214552 CA4335187	269	S>W		No	ClinGen ExAC gnomAD
CA4335188 rs768896364	271	R>L		No	ClinGen ExAC gnomAD
CA368113172 rs1156717624	272	G>S		No	ClinGen TOPMed
rs1393609613 CA368113179	273	K>E		No	ClinGen gnomAD
rs1418244473 CA368113181	273	K>T		No	ClinGen TOPMed
rs940876191 CA162820400	275	S>F		No	ClinGen TOPMed gnomAD
CA368113195 rs1429929419	275	S>P		No	ClinGen TOPMed
CA368113203 rs1489639706	276	C>F		No	ClinGen TOPMed
rs1284885739 CA368113206	276	C>W		No	ClinGen gnomAD
rs770834506 CA4335191	278	R>C		No	ClinGen ExAC gnomAD
rs1454134426 CA368113215	278	R>H		No	ClinGen gnomAD
CA4335193 rs565335389	279	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4335192 rs565335389	279	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368113224 rs1205194443	280	L>F		No	ClinGen TOPMed
rs1197620879 CA368113229	281	K>E		No	ClinGen gnomAD
CA4335194 rs767453970	281	K>R		No	ClinGen ExAC gnomAD
rs752492991 CA4335195	282	V>M		No	ClinGen ExAC gnomAD
CA4335196 rs534451306	284	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA4335197 rs763772148	287	N>D		No	ClinGen ExAC gnomAD
rs1486672564 CA368113270	287	N>K		No	ClinGen TOPMed
rs1170243185 CA368113268	287	N>S		No	ClinGen gnomAD
rs368609459 CA4335198	288	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1373286616 CA368113274	288	Y>H		No	ClinGen gnomAD
CA4335200 rs778327398	289	H>D		No	ClinGen ExAC TOPMed gnomAD
CA368113285 rs1563007955	289	H>Q		No	ClinGen Ensembl
CA368113279 rs778327398	289	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1036532382 CA162820401	290	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	291	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758851020 CA4335202	292	G>A		No	ClinGen ExAC gnomAD
CA162820402 rs56170585	297	G>S		No	ClinGen Ensembl
rs904656298 CA162820403	298	A>S		No	ClinGen Ensembl
CA162820404 rs901971943	298	A>V		No	ClinGen TOPMed gnomAD
CA368113370 rs768823215	302	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4335206 rs768823215	302	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA4335207 rs781467339	303	T>I		No	ClinGen ExAC TOPMed gnomAD
CA368113382 rs1288456169	304	K>N		No	ClinGen TOPMed
rs1223388464 CA368113394	306	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368113407 rs1487632879	308	L>H		No	ClinGen gnomAD
rs998933986 CA162820405	309	M>L		No	ClinGen TOPMed gnomAD
CA4335211 rs773388012	309	M>T		No	ClinGen ExAC gnomAD
CA368113410 rs998933986	309	M>V		No	ClinGen TOPMed gnomAD
rs1162294582 CA368113420	310	Y>S		No	ClinGen gnomAD
CA368113441 rs1428494939	313	P>S		No	ClinGen TOPMed
rs1164977135 CA368113447	314	E>K		No	ClinGen gnomAD
CA368113449 rs1358536884	314	E>V		No	ClinGen gnomAD
CA162820409 rs959913632	316	L>M		No	ClinGen gnomAD
CA162820410 rs1014480836	316	L>R		No	ClinGen Ensembl
CA368113461 rs959913632	316	L>V		No	ClinGen gnomAD
rs367552951 CA4335216	317	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4335215 rs367552951	317	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs367552951 CA368113464	317	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA368113481 rs1584243817	319	S>L		No	ClinGen Ensembl
CA4335217 rs776348766	321	T>I		No	ClinGen ExAC gnomAD
CA4335219 rs545945483	323	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4335220 rs749909829	325	I>V		No	ClinGen ExAC gnomAD
CA368113535 rs1215711547	328	V>M		No	ClinGen gnomAD
TCGA novel	330	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758940744 CA4335221	331	C>F		No	ClinGen ExAC gnomAD
rs766862839 CA4335222	332	A>V		No	ClinGen ExAC gnomAD
rs1242108671 CA368113568	333	S>A		No	ClinGen gnomAD
CA4335223 rs751929647	333	S>F		No	ClinGen ExAC gnomAD
rs1377959136 CA368113592	337	T>A		No	ClinGen gnomAD
CA162820415 rs78712424	342	L>M		No	ClinGen TOPMed
VAR_049290 rs3750146 CA4335227	343	V>M		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs774088837 CA162820416	344	D>N		No	ClinGen Ensembl
rs1335922942 CA368113640	345	M>V		No	ClinGen TOPMed gnomAD
CA368113648 rs1324697796	346	R>G		No	ClinGen TOPMed
rs1563008067 CA368113665	348	F>L		No	ClinGen Ensembl
rs1453673890 CA368113659	348	F>L		No	ClinGen gnomAD
CA368113714 rs1371319481	355	I>M		No	ClinGen gnomAD
CA162820417 rs761382740	356	I>F		No	ClinGen Ensembl
rs749347940 CA4335230 COSM453537	357	F>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs139681941 CA368113727	357	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs749347940 CA368113721	357	F>L		No	ClinGen ExAC TOPMed gnomAD
rs374891047 CA4335232	358	L>F		No	ClinGen ESP ExAC gnomAD
rs1262969470 CA368113738	359	S>C		No	ClinGen gnomAD
CA4335233 rs746854638	360	G>S		No	ClinGen ExAC gnomAD
rs768525969 CA4335234	362	Y>C		No	ClinGen ExAC gnomAD
CA368113761 rs1251690734	363	T>A		No	ClinGen gnomAD
rs776239506 CA368113764	363	T>K		No	ClinGen ExAC TOPMed gnomAD
CA368113763 rs776239506	363	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4335235 rs776239506	363	T>R		No	ClinGen ExAC TOPMed gnomAD
CA4335236 rs761499766	364	A>V		No	ClinGen ExAC
rs556841355 CA4335237	367	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4335238 rs772772421	368	A>G		No	ClinGen ExAC gnomAD
rs1177318264 CA368113787	368	A>T		No	ClinGen gnomAD
rs772772421 CA368113791	368	A>V		No	ClinGen ExAC gnomAD
CA368113800 rs1175373250	370	I>L		No	ClinGen gnomAD
rs1429742768 CA368113812	371	A>V		No	ClinGen gnomAD
TCGA novel	372	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162820419 rs752115856	373	F>L		No	ClinGen ExAC TOPMed gnomAD
rs752115856 CA4335241	373	F>V		No	ClinGen ExAC TOPMed gnomAD
CA4335242 rs755402187	375	L>M		No	ClinGen ExAC TOPMed gnomAD
rs922319384 CA162820420	375	L>Q		No	ClinGen Ensembl
CA4335243 rs143614174	377	D>N		No	ClinGen ESP ExAC gnomAD
rs1584243968 CA368113859	379	V>G		No	ClinGen Ensembl
CA368113854 rs1376149944	379	V>M		No	ClinGen gnomAD
CA4335245 rs542894604	383	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA368113882 rs1222231459	383	D>N		No	ClinGen TOPMed gnomAD
CA4335246 rs778137101	384	K>M		No	ClinGen ExAC gnomAD
TCGA novel	388	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4335249 rs778816712	390	A>T		No	ClinGen ExAC gnomAD
rs746987223 CA4335250	390	A>V		No	ClinGen ExAC TOPMed gnomAD
CA368113938 rs1487427379	391	R>G		No	ClinGen gnomAD
CA4335251 rs768453043	392	T>I		No	ClinGen ExAC gnomAD
rs781079161 CA4335252	394	A>T		No	ClinGen ExAC gnomAD
CA368113957 rs1481281808	394	A>V		No	ClinGen gnomAD
rs1338011696 CA368113978	397	T>I		No	ClinGen TOPMed
rs1250889976 CA368114021	403	T>S		No	ClinGen TOPMed
CA4335254 rs747929584	404	I>T		No	ClinGen ExAC TOPMed gnomAD
CA368114031 rs1361919859	405	L>V		No	ClinGen TOPMed
CA4335257 rs762530569	408	M>I		No	ClinGen ExAC gnomAD
CA4335259 rs559829750	409	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA4335260 rs528481255	409	L>H		No	ClinGen 1000Genomes ExAC gnomAD
CA4335258 rs559829750	409	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs767882639 CA4335262	410	Y>F		No	ClinGen ExAC
rs1338283514 CA368114091	413	S>R		No	ClinGen gnomAD
CA4335265 rs201361207	413	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1274449796 CA368114119	417	S>Y		No	ClinGen gnomAD
rs1158451057 CA368114132	419	W>*		No	ClinGen gnomAD
TCGA novel	419	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754144425 CA368114159	422	I>M		No	ClinGen ExAC gnomAD
CA368114156 rs1166848848	422	I>N		No	ClinGen TOPMed
TCGA novel	422	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779097158 CA368114161	423	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	424	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	424	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563008179 CA368114169	424	S>W		No	ClinGen Ensembl
CA368114210 rs1269473134	430	A>E		No	ClinGen gnomAD
rs1490838876 CA368114215	431	A>G		No	ClinGen gnomAD
rs1233884873 CA368114231	433	M>I		No	ClinGen TOPMed
CA368114227 rs1444400261	433	M>T		No	ClinGen TOPMed
CA368114246 rs1563008191	435	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1584244079 CA368114241	435	W>G		No	ClinGen Ensembl
CA368114249 rs1323741534	436	G>S		No	ClinGen TOPMed gnomAD
rs1241320016 CA368114255	437	H>N		No	ClinGen gnomAD
rs1436630593 CA368114279	440	I>F		No	ClinGen TOPMed
CA368114290 rs1475167632	441	E>D		No	ClinGen gnomAD
rs780974515 CA4335271	442	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1187357215 CA368114292	442	A>T		No	ClinGen gnomAD
rs934629505 CA162820425	444	S>L		No	ClinGen Ensembl
CA368114337 rs1584244112	448	H>P		No	ClinGen Ensembl
CA368114355 rs1361623397	451	A>S		No	ClinGen TOPMed
CA4335274 rs777508938	451	A>V		No	ClinGen ExAC gnomAD
CA162820426 rs371877365	453	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4335275 rs371877365	453	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA162820427 rs200235602	456	A>G		No	ClinGen Ensembl
CA368114389 rs1326242104	457	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA162820428 rs895851383	459	T>I		No	ClinGen Ensembl
rs1014097946 CA162820429	464	A>S		No	ClinGen Ensembl
rs772694278 CA4335279	467	Q>R		No	ClinGen ExAC gnomAD
rs776155751 CA4335281	469	D>E		No	ClinGen ExAC TOPMed gnomAD
rs565403094 CA4335282	470	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA162820431 rs371579888	471	D>H		No	ClinGen gnomAD
CA162820430 rs371579888	471	D>N		No	ClinGen gnomAD
CA368114474 rs371579888	471	D>Y		No	ClinGen gnomAD
CA4335284 rs762131713	472	V>M		No	ClinGen ExAC gnomAD
rs750570517 CA4335287	476	V>A		No	ClinGen ExAC gnomAD
TCGA novel	477	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368114539 rs1446935223	481	L>F		No	ClinGen gnomAD
CA368114541 rs1563008260	481	L>P		No	ClinGen Ensembl
CA4335289 rs139621623	482	N>K		No	ClinGen ESP ExAC gnomAD
CA4335291 rs755998616	483	N>S		No	ClinGen ExAC gnomAD
CA368114557 rs1240879246	484	V>M		No	ClinGen TOPMed
rs777596824 CA4335292	485	D>V		No	ClinGen ExAC gnomAD
rs749053362 CA4335293	486	A>P		No	ClinGen ExAC gnomAD
CA368114570 rs749053362	486	A>T		No	ClinGen ExAC gnomAD
rs1563008272 CA368114582	488	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA368114599 rs1315053320	490	F>L		No	ClinGen gnomAD
rs1236733468 CA368114607	492	L>V		No	ClinGen gnomAD
rs1333940133 CA368114616	493	A>V		No	ClinGen TOPMed
CA4335298 rs771512876	495	L>I		No	ClinGen ExAC gnomAD
CA4335299 rs114840294	497	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200075522 CA4335301	500	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM602862 CA162820433 rs368484423	502	G>C	lung [Cosmic]	No	ClinGen cosmic curated ESP gnomAD
rs1230940676 CA368114670	502	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368114668 COSM1568815 rs368484423	502	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA gnomAD
rs1271818016 CA368114675 COSM1207704	503	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs762068983 CA4335303	503	T>S		No	ClinGen ExAC gnomAD
rs1470830128 CA368114693	506	L>V		No	ClinGen gnomAD
rs763198469 CA4335306	507	L>M		No	ClinGen ExAC TOPMed gnomAD
rs766472938 CA4335307	508	A>V		No	ClinGen ExAC gnomAD
rs972769168 CA368114720	511	V>L		No	ClinGen TOPMed
CA162820436 rs972769168	511	V>M		No	ClinGen TOPMed
CA368114732 rs1222734623	513	L>F		No	ClinGen TOPMed gnomAD
CA4335312 rs757017279	514	F>C		No	ClinGen ExAC gnomAD
CA368114746 rs1281098311	515	R>C		No	ClinGen gnomAD
CA4335313 rs778704573 COSM1755408	515	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1263959327 CA368114755	516	I>M		No	ClinGen TOPMed gnomAD
CA368114750 rs1223946909	516	I>V		No	ClinGen gnomAD
COSM158741 rs1347489084 CA368114761	517	R>H	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs892096663 CA162820437	519	I>V		No	ClinGen TOPMed gnomAD
CA4335315 rs377524599	520	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1447838105 CA368114795	522	H>L		No	ClinGen TOPMed
CA4335317 rs746509834	524	G>A		No	ClinGen ExAC TOPMed gnomAD
rs769342553 CA4335318	526	K>E		No	ClinGen ExAC gnomAD
CA368114823 rs1177650649	526	K>N		No	ClinGen gnomAD
rs1348199807 CA368114829	527	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1009450887 CA368114831	528	E>*		No	ClinGen TOPMed gnomAD
rs1009450887 CA368114830	528	E>K		No	ClinGen TOPMed gnomAD
rs1009450887 CA162820438	528	E>Q		No	ClinGen TOPMed gnomAD
rs1166739615 CA368114834	528	E>V		No	ClinGen gnomAD
CA4335322 rs145464476	534	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs763138579 CA368114897	537	I>S		No	ClinGen ExAC TOPMed gnomAD
rs763138579 CA4335323	537	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4335324 rs766560413	541	S>I		No	ClinGen ExAC gnomAD
rs759599050 CA368114926	542	V>L		No	ClinGen ExAC gnomAD
CA4335326 rs759599050	542	V>M		No	ClinGen ExAC gnomAD
CA162820440 rs564163822	543	L>V		No	ClinGen gnomAD
rs1473605714 CA368114940	544	Y>*		No	ClinGen gnomAD
CA4335328 rs767529276	544	Y>F		No	ClinGen ExAC gnomAD
CA368114944 rs1207442789	545	T>A		No	ClinGen gnomAD
CA368114946 rs1290177855	545	T>S		No	ClinGen gnomAD
CA368114949 rs1200527235	546	V>L		No	ClinGen gnomAD
CA368114960 rs1563008375	548	A>T		No	ClinGen Ensembl
CA4335329 rs753725473	550	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA162820442 rs1002028473	551	V>I		No	ClinGen TOPMed
CA4335330 rs757168229	553	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs978998704 CA162820443	553	A>V		No	ClinGen Ensembl
CA4335332 rs781169512	555	Y>*		No	ClinGen ExAC gnomAD
CA4335331 rs764988853	555	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	556	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202129840 CA4335333	556	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1584244378 CA368115028	558	E>V		No	ClinGen Ensembl
rs139043437 CA4335336	562	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA368115054 rs1380692271	562	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368115059 rs1230692030	563	D>H		No	ClinGen gnomAD
CA368115067 rs1359270698	564	Q>*		No	ClinGen gnomAD
TCGA novel	565	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147921120 CA4335337	567	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs147921120 CA368115091	567	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs984834944 CA162820445	567	R>H		No	ClinGen TOPMed gnomAD
rs367770320 CA4335338	568	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1204961180 CA368115131	573	S>C		No	ClinGen TOPMed gnomAD
rs770315530 CA4335339	573	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	575	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4335340 rs370079514	576	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA368115161 rs1267331657	577	Y>D		No	ClinGen TOPMed
CA4335342 rs771201635	579	I>T		No	ClinGen ExAC gnomAD
CA4335341 rs749662690	579	I>V		No	ClinGen ExAC gnomAD
TCGA novel	580	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368115181 rs1325637188	580	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs772172455 CA4335345	582	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4335346 rs775615498	583	H>P		No	ClinGen ExAC gnomAD
rs1405929513 CA368115200	583	H>Y		No	ClinGen TOPMed gnomAD
rs141366978 CA4335348	584	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	585	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200835205 CA4335351	586	A>E		No	ClinGen ExAC TOPMed gnomAD
rs752224375 CA4335355	588	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4335357 rs778330881	589	G>A		No	ClinGen ExAC gnomAD
CA4335358 rs143330366	590	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4335359 rs143330366	590	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	590	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4335360 rs779211016	591	P>S		No	ClinGen ExAC TOPMed gnomAD
CA368115256 rs1584244478	593	H>P		No	ClinGen Ensembl
rs746136687 CA4335361	593	H>Y		No	ClinGen ExAC gnomAD
CA368115262 rs772250118	594	P>A		No	ClinGen ExAC gnomAD
CA4335362 rs772250118	594	P>S		No	ClinGen ExAC gnomAD
CA4335366 rs773202092	595	P>R		No	ClinGen ExAC TOPMed gnomAD
CA4335364 rs760794294	595	P>S		No	ClinGen ExAC gnomAD
CA4335365 rs760794294	595	P>T		No	ClinGen ExAC gnomAD
rs1584244491 CA368115269	596	M>L		No	ClinGen Ensembl
rs1584244491 CA368115270	596	M>V		No	ClinGen Ensembl
CA368115280 rs1159490971	597	S>G		No	ClinGen TOPMed gnomAD
CA368115291 rs1413947382	598	P>L		No	ClinGen TOPMed gnomAD
CA368115289 rs1413947382	598	P>Q		No	ClinGen TOPMed gnomAD
rs1413947382 CA368115290	598	P>R		No	ClinGen TOPMed gnomAD
CA368115292 rs1209255115	599	D>N		No	ClinGen TOPMed
rs1334944246 CA368115307	600	F>L		No	ClinGen gnomAD
TCGA novel	600	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4335368 rs766297031	601	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4335369 rs766297031	601	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1212277097 CA368115319	603	F>L		No	ClinGen TOPMed
rs1341074441 CA368115329	604	M>K		No	ClinGen TOPMed
CA368115346 rs1371741004	606	K>R		No	ClinGen gnomAD
CA368115377 rs752211281	610	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4335372 rs752211281	610	T>R		No	ClinGen ExAC TOPMed gnomAD
CA368115378 rs1289329882	611	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	613	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	614	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368115403 rs1292178545	615	I>V		No	ClinGen gnomAD
CA368115409 rs1443633951	616	T>P		No	ClinGen TOPMed
rs1262089052 CA368115417	617	S>P		No	ClinGen gnomAD
CA368115426 rs1429143613	618	G>V		No	ClinGen TOPMed
CA368115429 rs1386119970	619	F>I		No	ClinGen TOPMed
rs757714719 CA4335376	621	I>T		No	ClinGen ExAC gnomAD
rs1356235443 CA368115468	624	G>D		No	ClinGen gnomAD
rs1211599576 CA368115472	625	K>E		No	ClinGen gnomAD
CA368115497 rs1480246447	628	N>K		No	ClinGen gnomAD
rs117293522 CA4335377	628	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756059530 CA368115499	629	S>A		No	ClinGen TOPMed
CA162820448 rs756059530	629	S>P		No	ClinGen TOPMed
rs746224793 CA4335378	630	W>*		No	ClinGen ExAC gnomAD
CA4335380 rs780333274	634	Y>S		No	ClinGen ExAC gnomAD
TCGA novel	635	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776800679 CA4335383	638	T>P		No	ClinGen ExAC gnomAD
rs993880464 CA162820449	639	N>D		No	ClinGen TOPMed
rs1352866231 CA368115570	639	N>K		No	ClinGen gnomAD
CA4335384 rs749290137	639	N>S		No	ClinGen ExAC gnomAD
rs1461875848 CA368115591	642	Q>R		No	ClinGen gnomAD
CA368115598 rs1309142785	643	G>E		No	ClinGen gnomAD
CA368115626 rs1352903371	647	V>G		No	ClinGen gnomAD

No associated diseases with Q9UP38

3 regional properties for Q9UP38

Type	Name	Position	InterPro Accession
domain	Frizzled/Smoothened, transmembrane domain	309 - 640	IPR000539
domain	GPCR, family 2-like, transmembrane domain	317 - 629	IPR017981
domain	Frizzled domain	111 - 232	IPR020067

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
Wnt signalosome	A multiprotein protein complex containing membrane-localized Wnt receptors and cytosolic protein complexes, which is capable of transmitting the Wnt signal. Contains at least a Wnt protein, LRP5 or LRP6, a member of the Frizzled (Fz) family, Axin and and a Dishevelled (DVL) protein.

6 GO annotations of molecular function

Name	Definition
frizzled binding	Binding to a frizzled (fz) receptor.
G protein-coupled receptor activity	Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
PDZ domain binding	Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
Wnt receptor activity	Combining with a Wnt protein and transmitting the signal across the plasma membrane to initiate a change in cell activity.
Wnt-protein binding	Binding to a Wnt-protein, a secreted growth factor involved in signaling.

25 GO annotations of biological process

Name	Definition
astrocyte-dopaminergic neuron signaling	Cell-cell signaling that mediates the transfer of information from an astrocyte to a dopaminergic neuron.
autocrine signaling	Signaling between cells of the same type. The signal produced by the signaling cell binds to a receptor on, and affects a cell of the same type.
canonical Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes.
canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes involved in mesenchymal stem cell differentiation.
canonical Wnt signaling pathway involved in osteoblast differentiation	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes involved in osteoblast differentiation.
cell-cell signaling	Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
endothelial cell differentiation	The process in which a mesodermal, bone marrow or neural crest cell acquires specialized features of an endothelial cell, a thin flattened cell. A layer of such cells lines the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium.
hard palate development	The biological process whose specific outcome is the progression of the hard palate from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. The hard palate is the anterior portion of the palate consisting of bone and mucous membranes.
membranous septum morphogenesis	The process in which the membranous septum is generated and organized. The membranous septum is the upper part of ventricular septum.
muscular septum morphogenesis	The process in which the muscular septum is generated and organized. The muscular septum is the lower part of the ventricular septum.
negative regulation of BMP signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the BMP signaling pathway.
negative regulation of canonical Wnt signaling pathway	Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of oxidative stress-induced neuron death	Any process that stops, prevents or reduces the frequency, rate or extent of oxidative stress-induced neuron death.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
outflow tract morphogenesis	The process in which the anatomical structures of the outflow tract are generated and organized. The outflow tract is the portion of the heart through which blood flows into the arteries.
planar cell polarity pathway involved in neural tube closure	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors that modulates the establishment of planar polarity contributing to neural tube closure.
positive regulation of DNA-binding transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
presynapse assembly	The aggregation, arrangement and bonding together of a set of components to form a presynapse.
regulation of presynapse assembly	Any process that modulates the frequency, rate or extent of presynapse assembly.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	Any Wnt signaling pathway that is involved in midbrain dopaminergic neuron differentiation.

23 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O19116	SFRP1	Secreted frizzled-related protein 1	Bos taurus (Bovine)	PR
Q9DEQ4	SFRP1	Secreted frizzled-related protein 1	Gallus gallus (Chicken)	PR
Q9IA96	SFRP2	Secreted frizzled-related protein 2	Gallus gallus (Chicken)	PR
O57328	FZD1	Frizzled-1	Gallus gallus (Chicken)	PR
O00144	FZD9	Frizzled-9	Homo sapiens (Human)	PR
O75084	FZD7	Frizzled-7	Homo sapiens (Human)	PR
Q14332	FZD2	Frizzled-2	Homo sapiens (Human)	PR
Q6FHJ7	SFRP4	Secreted frizzled-related protein 4	Homo sapiens (Human)	PR
Q8N474	SFRP1	Secreted frizzled-related protein 1	Homo sapiens (Human)	PR
Q96HF1	SFRP2	Secreted frizzled-related protein 2	Homo sapiens (Human)	PR
Q9ULW2	FZD10	Frizzled-10	Homo sapiens (Human)	PR
O60353	FZD6	Frizzled-6	Homo sapiens (Human)	PR
Q9Z1N6	Sfrp4	Secreted frizzled-related sequence protein 4	Mus musculus (Mouse)	PR
P97299	Sfrp2	Secreted frizzled-related protein 2	Mus musculus (Mouse)	PR
Q8C4U3	Sfrp1	Secreted frizzled-related protein 1	Mus musculus (Mouse)	PR
Q9JIP6	Fzd2	Frizzled-2	Mus musculus (Mouse)	PR
Q61090	Fzd7	Frizzled-7	Mus musculus (Mouse)	PR
O70421	Fzd1	Frizzled-1	Mus musculus (Mouse)	PR
Q9JLS4	Sfrp4	Secreted frizzled-related protein 4	Rattus norvegicus (Rat)	PR
Q08464	Fzd2	Frizzled-2	Rattus norvegicus (Rat)	PR
Q08463	Fzd1	Frizzled-1	Rattus norvegicus (Rat)	PR
Q7YRN1	SFRP4	Secreted frizzled-related protein 4	Macaca mulatta (Rhesus macaque)	PR
Q5BL72	fzd7	Frizzled-7	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MAEEEAPKKS	RAAGGGASWE	LCAGALSARL	AEEGSGDAGG	RRRPPVDPRR	LARQLLLLLW
70	80	90	100	110	120
LLEAPLLLGV	RAQAAGQGPG	QGPGPGQQPP	PPPQQQQSGQ	QYNGERGISV	PDHGYCQPIS
130	140	150	160	170	180
IPLCTDIAYN	QTIMPNLLGH	TNQEDAGLEV	HQFYPLVKVQ	CSAELKFFLC	SMYAPVCTVL
190	200	210	220	230	240
EQALPPCRSL	CERARQGCEA	LMNKFGFQWP	DTLKCEKFPV	HGAGELCVGQ	NTSDKGTPTP
250	260	270	280	290	300
SLLPEFWTSN	PQHGGGGHRG	GFPGGAGASE	RGKFSCPRAL	KVPSYLNYHF	LGEKDCGAPC
310	320	330	340	350	360
EPTKVYGLMY	FGPEELRFSR	TWIGIWSVLC	CASTLFTVLT	YLVDMRRFSY	PERPIIFLSG
370	380	390	400	410	420
CYTAVAVAYI	AGFLLEDRVV	CNDKFAEDGA	RTVAQGTKKE	GCTILFMMLY	FFSMASSIWW
430	440	450	460	470	480
VILSLTWFLA	AGMKWGHEAI	EANSQYFHLA	AWAVPAIKTI	TILALGQVDG	DVLSGVCFVG
490	500	510	520	530	540
LNNVDALRGF	VLAPLFVYLF	IGTSFLLAGF	VSLFRIRTIM	KHDGTKTEKL	EKLMVRIGVF
550	560	570	580	590	600
SVLYTVPATI	VIACYFYEQA	FRDQWERSWV	AQSCKSYAIP	CPHLQAGGGA	PPHPPMSPDF
610	620	630	640
TVFMIKYLMT	LIVGITSGFW	IWSGKTLNSW	RKFYTRLTNS	KQGETTV