AiPD: Autoinhibited Protein Database

Q9HD45

Gene name	TM9SF3 (SMBP, UNQ245/PRO282)
Protein name	Transmembrane 9 superfamily member 3
Names	EP70-P-iso, SM-11044-binding protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56889
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

226-297 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

226-297 (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

1 structures for Q9HD45

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9HD45-F1	Predicted				AlphaFoldDB

289 variants for Q9HD45

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5625951 rs776596788	2	R>K		No	ClinGen ExAC TOPMed gnomAD
CA212584191 rs909320717	3	P>L		No	ClinGen TOPMed gnomAD
CA377745219 rs909320717	3	P>R		No	ClinGen TOPMed gnomAD
rs1249429730 CA377745222	3	P>S		No	ClinGen TOPMed
CA377745215 rs1459632242	4	L>V		No	ClinGen TOPMed
rs545375633 CA5625950	5	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1418951300 CA377745206	5	P>S		No	ClinGen gnomAD
CA377745177 rs577858829	7	A>G		No	ClinGen 1000Genomes TOPMed gnomAD
CA377745185 rs951226213	7	A>S		No	ClinGen TOPMed gnomAD
rs951226213 CA212584184	7	A>T		No	ClinGen TOPMed gnomAD
rs577858829 CA212584178	7	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1025979533 CA212584175	8	L>F		No	ClinGen TOPMed gnomAD
rs1025979533 CA377745174	8	L>I		No	ClinGen TOPMed gnomAD
rs1460715379 CA377745156	9	G>A		No	ClinGen TOPMed gnomAD
rs1235618258 CA377745147	10	V>E		No	ClinGen TOPMed gnomAD
CA377745133 rs1404203825	11	A>V		No	ClinGen TOPMed
CA377745113 rs1212200668	12	A>G		No	ClinGen TOPMed gnomAD
rs1212200668 CA377745111	12	A>V		No	ClinGen TOPMed gnomAD
CA212584171 rs976698610	13	A>V		No	ClinGen TOPMed gnomAD
CA5625949 rs559506497	14	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1589468947 CA377745085	15	A>T		No	ClinGen Ensembl
CA377745069 rs1217011704	16	L>P		No	ClinGen TOPMed gnomAD
CA5625947 rs772128577	18	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA377745044 rs772128577	18	L>R		No	ClinGen ExAC TOPMed gnomAD
CA212584152 rs904261278	19	L>P		No	ClinGen TOPMed gnomAD
CA212584150 rs1021366179	20	L>P		No	ClinGen TOPMed
CA377745008 rs1199155853	23	L>P		No	ClinGen TOPMed
CA5625944 rs745949519	25	R>G		No	ClinGen ExAC TOPMed gnomAD
rs745949519 CA377744986	25	R>W		No	ClinGen ExAC TOPMed gnomAD
CA212584132 rs541157053	26	T>A		No	ClinGen 1000Genomes
CA377744972 rs1282429180	26	T>I		No	ClinGen TOPMed
CA377744968 rs1449468997	27	R>G		No	ClinGen TOPMed gnomAD
CA377744967 rs1449468997	27	R>W		No	ClinGen TOPMed gnomAD
CA5625925 rs753675106	38	K>N		No	ClinGen ExAC
TCGA novel	46	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370821103 CA212575514	52	H>R		No	ClinGen ESP TOPMed gnomAD
CA377752602 rs1371279149	54	R>L		No	ClinGen gnomAD
rs575129837 CA212575508	58	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1423040459 CA377752530	60	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5625921 rs771929821	61	F>C		No	ClinGen ExAC TOPMed gnomAD
CA377752492 rs1424188145	63	L>F		No	ClinGen TOPMed gnomAD
rs1191229913 CA377752466	65	F>Y		No	ClinGen TOPMed
TCGA novel	67	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774457753 CA5625919	72	S>G		No	ClinGen ExAC gnomAD
rs760930120	72	S>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs760930120	72	S>V	Variant assessed as Somatic; 9.533e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs138780953 CA377752334 COSM343415	73	I>M	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1436004207 CA377752197	79	T>A		No	ClinGen TOPMed
rs778102934 CA5625914	87	V>I		No	ClinGen ExAC gnomAD
rs1222699845 CA377751932	92	S>G		No	ClinGen gnomAD
rs1316720893 CA377751881	95	D>V		No	ClinGen gnomAD
CA5625913 rs770125582	97	K>E		No	ClinGen ExAC gnomAD
rs748475404 CA5625912	97	K>N		No	ClinGen ExAC gnomAD
TCGA novel	98	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766509287 CA5625898	100	D>E		No	ClinGen ExAC gnomAD
TCGA novel	102	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377750416 rs1231095248	105	A>D		No	ClinGen gnomAD
CA377750398 rs1314049584	107	Y>D		No	ClinGen gnomAD
rs772691478 CA212572362	110	I>T		No	ClinGen Ensembl
CA377750335 rs1381917522	111	D>G		No	ClinGen TOPMed gnomAD
rs1318374931 CA377750308	113	D>G		No	ClinGen gnomAD
rs1456426600 CA377750272	116	K>E		No	ClinGen TOPMed
CA5625895 rs769930068	118	D>V		No	ClinGen ExAC
CA212572351 rs904245681	120	F>Y		No	ClinGen Ensembl
rs776898886 CA5625893	122	Y>C		No	ClinGen ExAC gnomAD
rs1390603661 CA377750108	127	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA212572340 rs987519241	130	Y>H		No	ClinGen TOPMed
CA5625890 rs780712467	132	M>T		No	ClinGen ExAC gnomAD
TCGA novel	134	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212572336 rs1029494758	134	I>V		No	ClinGen TOPMed gnomAD
CA5625889 rs756769804	139	I>V		No	ClinGen ExAC gnomAD
rs1257493961 CA377749089	141	G>V		No	ClinGen gnomAD
rs1440853044 CA377749085 COSM3665992	142	I>V	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA377748960 rs1276989221	149	N>S		No	ClinGen gnomAD
rs539154946 CA5625869	151	E>D		No	ClinGen ExAC TOPMed gnomAD
CA377748939 rs1379604089	151	E>G		No	ClinGen gnomAD
rs747819150 CA5625868	154	Y>C		No	ClinGen ExAC gnomAD
rs780899427 CA5625867	155	L>I		No	ClinGen ExAC gnomAD
rs1242345594 CA377748830	157	T>I		No	ClinGen TOPMed gnomAD
rs1589457970 CA377748814	159	K>E		No	ClinGen Ensembl
TCGA novel	160	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779926546 CA5625864	163	I>T		No	ClinGen ExAC gnomAD
rs1408641431 CA377748768	163	I>V		No	ClinGen gnomAD
rs758371131 CA5625863	165	F>V		No	ClinGen ExAC gnomAD
TCGA novel	167	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363583190 CA377748708	168	N>I		No	ClinGen Ensembl
rs1564936503 CA377748701 COSM199126	169	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs892248579 CA212571262	184	V>F		No	ClinGen TOPMed
rs1369506807 CA377748464	191	M>I		No	ClinGen gnomAD
CA212570675 rs1031070245	196	K>T		No	ClinGen gnomAD
CA212570672 rs865924299	197	W>L		No	ClinGen Ensembl
CA5625842 rs746774440	199	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5625841 rs779871451	200	S>T		No	ClinGen ExAC gnomAD
rs1253453097 CA377748196	202	V>A		No	ClinGen gnomAD
rs758316077 CA5625840	202	V>M		No	ClinGen ExAC TOPMed gnomAD
CA377748191 rs1208022569	203	K>Q		No	ClinGen TOPMed gnomAD
rs1228425609 CA377748150	204	F>L		No	ClinGen gnomAD
rs750263428 CA5625839 COSM1188012	204	F>Y	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1374286118 CA377748122	206	D>A		No	ClinGen TOPMed
TCGA novel	207	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212570659 rs954438246	210	K>E		No	ClinGen Ensembl
rs778925290 CA5625838	210	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	213	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377748010 rs1332030582	214	P>A		No	ClinGen gnomAD
rs764384887 CA5625835	214	P>R		No	ClinGen ExAC gnomAD
CA377748011 rs1332030582	214	P>T		No	ClinGen gnomAD
rs753102000 CA5625833	218	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	218	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775076724 CA5625805	223	W>C		No	ClinGen ExAC gnomAD
CA5625804 rs771743487	227	F>C		No	ClinGen ExAC gnomAD
CA5625802 rs774255753	232	M>L		No	ClinGen ExAC gnomAD
TCGA novel	233	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	238	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1564933834 CA377747051	238	G>D		No	ClinGen Ensembl
CA377747006 rs1448803578	242	M>V		No	ClinGen gnomAD
rs746208229 CA212567781	245	M>I		No	ClinGen gnomAD
TCGA novel	254	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5625798 rs573721065	256	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA212567770 rs950145276	257	K>R		No	ClinGen TOPMed
CA5625797 rs748257507	258	E>K		No	ClinGen ExAC gnomAD
CA377746741 rs1183568172	261	M>T		No	ClinGen gnomAD
rs781519950 CA5625796	262	D>N		No	ClinGen ExAC TOPMed gnomAD
CA377746721 rs1250499731	262	D>V		No	ClinGen gnomAD
rs1589453844 CA377746262	277	V>G		No	ClinGen Ensembl
rs779362271 CA377746240	278	H>L		No	ClinGen ExAC TOPMed gnomAD
CA5625769 rs779362271	278	H>R		No	ClinGen ExAC TOPMed gnomAD
CA377746249 rs1479684807	278	H>Y		No	ClinGen TOPMed
CA377746194 rs1252805337	280	D>V		No	ClinGen TOPMed
CA5625768 rs757810989	287	H>N		No	ClinGen ExAC gnomAD
CA377746056 rs752193971	288	P>A		No	ClinGen ExAC gnomAD
CA5625767 rs752193971	288	P>S		No	ClinGen ExAC gnomAD
CA377746028 rs767125607	291	F>I		No	ClinGen ExAC TOPMed gnomAD
rs767125607 CA5625766	291	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5625764 rs751169466	295	I>T		No	ClinGen ExAC gnomAD
rs866360161 CA212567073	298	G>E		No	ClinGen Ensembl
rs879086581 CA212567070	300	Q>R		No	ClinGen Ensembl
CA212567068 rs374850131	302	F>L		No	ClinGen ESP TOPMed
CA377745868 rs1365214266	305	S>C		No	ClinGen gnomAD
rs370403938 CA212567066	307	I>V		No	ClinGen ESP TOPMed gnomAD
rs1387751441 CA377745843	308	V>I		No	ClinGen gnomAD
rs1318497769 CA377745838	309	I>V		No	ClinGen gnomAD
CA377745832 rs1589453800	310	I>V		No	ClinGen Ensembl
CA377745824 rs1363929521	311	V>I		No	ClinGen gnomAD
rs1488031085 COSM428223 CA377745807	313	M>I	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1174903581 CA377745812	313	M>V		No	ClinGen gnomAD
CA5625760 rs769828797	315	E>G		No	ClinGen ExAC gnomAD
rs1426834919 CA377745763	319	T>S		No	ClinGen gnomAD
CA5625759 rs761899880	320	E>A		No	ClinGen ExAC gnomAD
rs761703623 CA377745660	324	M>L		No	ClinGen ExAC gnomAD
rs761703623 CA5625734	324	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1244480532 CA377745635	326	S>N		No	ClinGen TOPMed
CA5625731 rs760779762	327	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763970696 CA5625732	327	T>P		No	ClinGen ExAC
rs1293450937 CA377745604	329	I>T		No	ClinGen gnomAD
rs1444759202 CA377745609	329	I>V		No	ClinGen TOPMed
rs1456761493 CA377745575	332	Y>H		No	ClinGen TOPMed gnomAD
CA377745545 rs1430078764	335	T>A		No	ClinGen TOPMed
CA377745541 rs1326896260	335	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1428777980 CA377745436	345	S>N		No	ClinGen gnomAD
CA5625727 rs774565465	345	S>R		No	ClinGen ExAC gnomAD
CA377745425 rs1169950922	346	L>Q		No	ClinGen gnomAD
CA377745422 rs1169950922	346	L>R		No	ClinGen gnomAD
CA5625725 rs749640145	347	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1468186019 CA377745402	348	A>V		No	ClinGen TOPMed
CA377745397 rs1334736612	349	R>T		No	ClinGen TOPMed
rs1234781868 CA377744822	358	Q>H		No	ClinGen gnomAD
TCGA novel	359	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294826438 CA377744818	359	M>T		No	ClinGen Ensembl
rs199687837 CA212563876	361	I>T		No	ClinGen gnomAD
CA5625705 rs773496562	361	I>V		No	ClinGen ExAC gnomAD
rs1266490620 CA377744774	365	L>R	Variant assessed as Somatic; 9.274e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1333223953 CA377744770	366	I>T		No	ClinGen TOPMed
CA377744761 rs1357262044	367	P>L		No	ClinGen TOPMed
CA377744757 rs1589451352	368	A>G		No	ClinGen Ensembl
CA5625704 rs770317909	369	M>L		No	ClinGen ExAC gnomAD
CA377744751 rs1469715330	369	M>T		No	ClinGen gnomAD
CA377744753 rs770317909	369	M>V		No	ClinGen ExAC gnomAD
CA377744742 rs1233420071	370	V>A		No	ClinGen gnomAD
CA5625703 rs748669589	370	V>L		No	ClinGen ExAC gnomAD
rs1564931620 CA377744740	371	C>S		No	ClinGen Ensembl
rs1326507136 CA377744736	371	C>Y		No	ClinGen gnomAD
rs757923908 CA5625701	372	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5625700 rs745393138	373	T>A		No	ClinGen ExAC TOPMed gnomAD
CA377744724 rs1330882044	373	T>I		No	ClinGen TOPMed gnomAD
rs778678704 CA5625699	376	F>L		No	ClinGen ExAC gnomAD
rs757019178 CA5625698	377	I>V		No	ClinGen ExAC TOPMed gnomAD
rs200437634 CA5625697	378	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	379	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs11551241 CA212563853	381	A>S		No	ClinGen gnomAD
rs11551241 CA377744673	381	A>T		No	ClinGen gnomAD
CA5625696 rs763864099	382	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1159359448 CA377744667	382	I>T		No	ClinGen gnomAD
rs755945636 CA5625695	383	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA377744662 rs1477781932	383	Y>H		No	ClinGen gnomAD
TCGA novel	384	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377744644 rs1301243995	385	H>R		No	ClinGen gnomAD
CA377744628 rs1385561939	388	R>G		No	ClinGen gnomAD
TCGA novel	389	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201204611 CA212563847	389	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	391	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212563846 rs891991743	394	T>A		No	ClinGen TOPMed
CA5625694 rs752522052	394	T>R		No	ClinGen ExAC gnomAD
CA212563840 rs965542937	395	M>T		No	ClinGen gnomAD
CA377744124 rs1174535878	396	V>M		No	ClinGen gnomAD
CA5625677 rs770614241	397	A>V		No	ClinGen ExAC gnomAD
CA5625675 rs777497827	398	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5625674 rs755819136	402	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1271316694	405	V>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA377744062 rs1372912299	405	V>I		No	ClinGen TOPMed
CA377744053 rs1338825681	406	I>T		No	ClinGen gnomAD
CA5625673 rs752524997	406	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1314989177 CA377744048	407	L>F		No	ClinGen gnomAD
CA5625672 rs781079968	412	V>I		No	ClinGen ExAC gnomAD
rs1370191801 CA377744007	414	T>A		No	ClinGen gnomAD
CA5625671 rs754953961	415	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	416	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751623216 CA5625670	417	G>S		No	ClinGen ExAC gnomAD
CA377743971 rs766509352	420	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	424	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	426	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212559689 rs950884960	429	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA212559684 rs376285496	431	N>I		No	ClinGen ESP gnomAD
CA212559685 rs376285496	431	N>S		No	ClinGen ESP gnomAD
rs1250638882 CA377743874	435	R>C		No	ClinGen gnomAD
rs762042642 CA5625665	435	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5625664 rs777185537	436	P>L		No	ClinGen ExAC TOPMed gnomAD
CA212559674 rs919328053	437	I>V		No	ClinGen TOPMed gnomAD
rs867212091 CA212559661	438	P>L		No	ClinGen Ensembl
rs1332759983 CA377743854	439	E>Q		No	ClinGen gnomAD
TCGA novel	441	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	443	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377743783 rs1461487411	446	P>S		No	ClinGen gnomAD
rs138586600 CA5625640	447	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1396797587 CA377743768	449	I>V		No	ClinGen gnomAD
CA377743753 rs1245785059	451	C>G		No	ClinGen TOPMed
CA377743657 rs1453000354	465	M>T		No	ClinGen gnomAD
CA212557804 rs375390871	468	I>V		No	ClinGen ESP TOPMed
CA212557789 rs78133254	473	W>C		No	ClinGen Ensembl
rs1243498398 CA377743571	475	Y>C		No	ClinGen TOPMed
CA377743548 rs1281943798	478	Y>C		No	ClinGen TOPMed
TCGA novel	479	Y>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1052272150 CA212557785	481	Y>C		No	ClinGen Ensembl
TCGA novel	483	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377743505 rs1362103992	484	M>T		No	ClinGen TOPMed gnomAD
rs201327892 CA5625609	493	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377743449 rs1456319534	493	I>V		No	ClinGen TOPMed
rs781665888 CA5625607	495	T>P		No	ClinGen ExAC gnomAD
CA377743432 rs1174597063	496	V>I		No	ClinGen TOPMed gnomAD
CA5625606 rs755298088	498	V>M		No	ClinGen ExAC gnomAD
CA212557740 rs778114771	500	I>V		No	ClinGen Ensembl
CA212557737 rs74475979	501	V>L		No	ClinGen Ensembl
CA212557733 rs112249832	502	C>Y		No	ClinGen Ensembl
rs766891663 CA5625604	503	T>A		No	ClinGen ExAC TOPMed gnomAD
rs12779720 CA377743320	513	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5625600 rs763713674	513	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs12779720 CA377743319	513	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	516	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1237962662 CA377743286	516	W>R		No	ClinGen gnomAD
rs1333624667 CA377743269	518	S>N		No	ClinGen gnomAD
rs1309530554 CA377743254	520	L>F		No	ClinGen gnomAD
CA212557497 rs74815049	525	T>A		No	ClinGen gnomAD
rs759346625 CA5625574	527	I>V		No	ClinGen ExAC TOPMed gnomAD
CA377743207 rs1463059943	528	Y>D		No	ClinGen gnomAD
rs774340208 CA5625573	531	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	532	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377743137 rs1365779968	537	Y>C		No	ClinGen gnomAD
CA377743141 rs1468739115	537	Y>H		No	ClinGen gnomAD
TCGA novel	549	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410406105 CA377743026	550	S>L		No	ClinGen TOPMed
TCGA novel	552	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779420941 CA5625558	557	A>S		No	ClinGen ExAC gnomAD
CA5625557 COSM267582 rs755612180	557	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA377742973 rs1444820544	558	V>L		No	ClinGen TOPMed gnomAD
CA377742951 rs1347605787	561	T>A		No	ClinGen gnomAD
rs1236977939 CA377742926	565	I>V		No	ClinGen TOPMed gnomAD
rs1349173998 CA377742918	566	M>L		No	ClinGen gnomAD
CA377742916 rs1341975301	566	M>T		No	ClinGen TOPMed
TCGA novel	567	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5625544 rs775702774	569	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs541930272 CA212555540	570	I>F		No	ClinGen Ensembl
CA5625540 rs757756647	576	S>G		No	ClinGen ExAC gnomAD
CA212555495 rs779175925	576	S>I		No	ClinGen gnomAD
TCGA novel	577	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150067149 CA212555480	580	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150067149 CA5625539	580	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1437726380 CA377742804	581	K>N		No	ClinGen TOPMed
rs947371600 CA212555473	582	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs780637447 CA5625538	584	T>S		No	ClinGen ExAC gnomAD
rs754525319 CA5625537	585	N>I		No	ClinGen ExAC gnomAD

No associated diseases with Q9HD45

No regional properties for Q9HD45

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9HD45

Functions

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

2 GO annotations of cellular component

Name	Definition
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
protein localization to membrane	A process in which a protein is transported to, or maintained in, a specific location in a membrane.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9ET30	Tm9sf3	Transmembrane 9 superfamily member 3	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MRPLPGALGV	AAAAALWLLL	LLLPRTRADE	HEHTYQDKEE	VVLWMNTVGP	YHNRQETYKY
70	80	90	100	110	120
FSLPFCVGSK	KSISHYHETL	GEALQGVELE	FSGLDIKFKD	DVMPATYCEI	DLDKEKRDAF
130	140	150	160	170	180
VYAIKNHYWY	QMYIDDLPIW	GIVGEADENG	EDYYLWTYKK	LEIGFNGNRI	VDVNLTSEGK
190	200	210	220	230	240
VKLVPNTKIQ	MSYSVKWKKS	DVKFEDRFDK	YLDPSFFQHR	IHWFSIFNSF	MMVIFLVGLV
250	260	270	280	290	300
SMILMRTLRK	DYARYSKEEE	MDDMDRDLGD	EYGWKQVHGD	VFRPSSHPLI	FSSLIGSGCQ
310	320	330	340	350	360
IFAVSLIVII	VAMIEDLYTE	RGSMLSTAIF	VYAATSPVNG	YFGGSLYARQ	GGRRWIKQMF
370	380	390	400	410	420
IGAFLIPAMV	CGTAFFINFI	AIYYHASRAI	PFGTMVAVCC	ICFFVILPLN	LVGTILGRNL
430	440	450	460	470	480
SGQPNFPCRV	NAVPRPIPEK	KWFMEPAVIV	CLGGILPFGS	IFIEMYFIFT	SFWAYKIYYV
490	500	510	520	530	540
YGFMMLVLVI	LCIVTVCVTI	VCTYFLLNAE	DYRWQWTSFL	SAASTAIYVY	MYSFYYYFFK
550	560	570	580
TKMYGLFQTS	FYFGYMAVFS	TALGIMCGAI	GYMGTSAFVR	KIYTNVKID