AiPD: Autoinhibited Protein Database

B5MCN3

Gene name	SEC14L6
Protein name	Putative SEC14-like protein 6
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:730005
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-54 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-54 (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 B5MCN3

Entry ID	Method	Resolution	Chain	Position	Source
AF-B5MCN3-F1	Predicted				AlphaFoldDB

371 variants for B5MCN3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1390071595 CA411204356	2	S>N		No	ClinGen gnomAD
rs928248834 CA323220702	3	G>R		No	ClinGen TOPMed
CA323220699 rs981229020	5	V>A		No	ClinGen TOPMed gnomAD
rs1459528409 CA411204318	8	L>P		No	ClinGen TOPMed gnomAD
rs780656771 CA10183398	11	S>L		No	ClinGen ExAC TOPMed gnomAD
CA411204301 rs1167884993	11	S>P		No	ClinGen gnomAD
rs1188798952 CA411204294	12	Q>P		No	ClinGen gnomAD
CA323220697 rs976374679	15	S>L		No	ClinGen TOPMed gnomAD
CA323220695 rs915770677	18	Q>*		No	ClinGen TOPMed
rs974300926 CA323220690	18	Q>H		No	ClinGen TOPMed gnomAD
CA323216756 rs9608973	20	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411203455 rs118116676	20	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10183385 rs118116676	20	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs9608973 CA10183386	20	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1287854191 CA411203451	21	E>*		No	ClinGen gnomAD
CA10183384 rs774546122	21	E>G		No	ClinGen ExAC
TCGA novel	24	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs907017523 CA323216751	25	D>E		No	ClinGen Ensembl
rs141685013 CA10183383	29	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10183381 rs780783717	31	P>A		No	ClinGen ExAC gnomAD
CA323216712 rs376256586	31	P>L		No	ClinGen Ensembl
CA411203388 rs780783717	31	P>S		No	ClinGen ExAC gnomAD
CA411203380 rs1410559502	32	N>S		No	ClinGen gnomAD
CA10183380 rs770433093	33	P>L		No	ClinGen ExAC gnomAD
rs1163437077 CA411203366	34	D>E		No	ClinGen TOPMed
CA411203367 rs1473306644	34	D>G		No	ClinGen gnomAD
rs1414744456 CA411203362	35	D>N		No	ClinGen gnomAD
CA10183378 rs183206173	36	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560390689 CA10183379	36	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758236968 CA10183377	38	L>F		No	ClinGen ExAC gnomAD
CA10183376 rs748038979	40	R>C		No	ClinGen ExAC TOPMed gnomAD
rs372667798 CA10183375	40	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411203332 rs748038979	40	R>S		No	ClinGen ExAC TOPMed gnomAD
CA10183374 rs754760158	41	W>L		No	ClinGen ExAC
rs1226581967 CA411203318	42	L>F		No	ClinGen gnomAD
CA411203312 rs1280052549	43	Q>*		No	ClinGen gnomAD
rs5753190 CA411203310	43	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs5753190 CA411203311	43	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10183373 rs5753190	43	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765201906 CA411203215	45	R>L		No	ClinGen TOPMed gnomAD
rs765201906 CA323214802	45	R>Q		No	ClinGen TOPMed gnomAD
rs1322360002 CA411203220	45	R>W		No	ClinGen TOPMed gnomAD
rs1165525858 CA411203199 COSM3842474 COSM3842475	46	S>R	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA411203207 rs1389153643	46	S>T		No	ClinGen gnomAD
TCGA novel	48	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1425675070 CA411203128	51	K>N		No	ClinGen gnomAD
rs961447871 CA323214799	52	S>*		No	ClinGen TOPMed gnomAD
CA411203118 rs961447871	52	S>L		No	ClinGen TOPMed gnomAD
rs1385927560 CA411203122	52	S>P		No	ClinGen TOPMed
CA411203101 rs1186876825	53	E>D		No	ClinGen TOPMed gnomAD
CA411203074 rs1451617467	55	M>K		No	ClinGen gnomAD
CA411203078 rs1172124152	55	M>V		No	ClinGen TOPMed gnomAD
rs1283597141 CA411203049	57	R>K		No	ClinGen TOPMed
rs1445718548 CA411203051	57	R>W		No	ClinGen TOPMed
rs868711564 CA323214466	60	M>I		No	ClinGen Ensembl
CA323214469 rs981589415	60	M>L		No	ClinGen gnomAD
rs538798425 CA10183343	61	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411202854 rs747632610	63	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747632610 CA10183341	63	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs576084043 CA10183342	63	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10183340 rs768715092	65	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs768715092 CA10183339	65	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA411202826 rs768715092	65	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA10183338 rs749139287	67	D>G		No	ClinGen ExAC gnomAD
CA10183337 rs750682237	69	A>P		No	ClinGen ExAC TOPMed gnomAD
rs769666187 CA10183336	70	N>K		No	ClinGen ExAC
rs1355535801 CA411202693	73	A>T		No	ClinGen gnomAD
rs1333745483 CA411202682	73	A>V		No	ClinGen gnomAD
CA323214452 rs936968869	74	W>*		No	ClinGen TOPMed
CA411202644 rs1413017957	75	Q>*		No	ClinGen gnomAD
rs556277502 CA10183335	75	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781410023 CA411202620	76	P>A		No	ClinGen ExAC gnomAD
rs757299318 CA10183333	76	P>H		No	ClinGen ExAC TOPMed gnomAD
CA10183334 rs781410023	76	P>S		No	ClinGen ExAC gnomAD
rs1409254645 CA411202585	77	P>L		No	ClinGen TOPMed
rs1179865385 CA411202467	79	V>M		No	ClinGen gnomAD
rs566338547 CA411202451	80	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs566338547 CA10183314	80	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411202438 rs1331206643	81	R>W		No	ClinGen TOPMed
CA323214395 rs947221137	85	A>D		No	ClinGen TOPMed gnomAD
CA411202380 rs1207789650	85	A>T		No	ClinGen gnomAD
CA411202374 rs947221137	85	A>V		No	ClinGen TOPMed gnomAD
CA10183310 rs755389496	87	G>D		No	ClinGen ExAC gnomAD
CA10183311 rs779331658	87	G>S		No	ClinGen ExAC TOPMed gnomAD
CA411202344 rs1055728423	89	C>G		No	ClinGen TOPMed gnomAD
CA323214391 rs1055728423	89	C>R		No	ClinGen TOPMed gnomAD
CA10183308 rs767119945	90	G>S		No	ClinGen ExAC gnomAD
CA323214385 rs761508538	91	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA411202298 rs763730535	92	D>E		No	ClinGen ExAC TOPMed gnomAD
CA10183306 rs751127034	92	D>N		No	ClinGen ExAC gnomAD
CA411202300 rs1192413776	92	D>V		No	ClinGen TOPMed
TCGA novel	93	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs907972107 CA323214380	93	G>D		No	ClinGen gnomAD
CA10183304 rs532725817	93	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	94	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411202238 rs1349166712	99	W>*		No	ClinGen TOPMed gnomAD
rs149479913 CA10183303	102	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411202211 rs1386463413	103	V>L		No	ClinGen TOPMed
CA411202205 rs1385709504	104	G>*		No	ClinGen gnomAD
CA411202200 rs1029195295	105	S>C		No	ClinGen TOPMed gnomAD
CA323214372 rs1029195295	105	S>G		No	ClinGen TOPMed gnomAD
rs1447331804 CA411202199	105	S>I		No	ClinGen gnomAD
CA411202196 rs137955219 CA10183302	105	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs943833702 CA323214365	110	G>A		No	ClinGen TOPMed
rs1265312572 CA411202159	111	L>P		No	ClinGen gnomAD
CA411202148 rs1193866207	113	L>F		No	ClinGen TOPMed gnomAD
CA10183301 rs759316456	114	S>L		No	ClinGen ExAC gnomAD
rs1019303909 CA323214358	118	Q>*		No	ClinGen TOPMed
rs1019303909 CA323214360	118	Q>E		No	ClinGen TOPMed
rs1601886919 CA411202118	118	Q>P		No	ClinGen Ensembl
rs1293020362 CA411202107	119	E>D		No	ClinGen gnomAD
rs1273255556 CA411202099	120	L>F		No	ClinGen TOPMed
rs1298007945 CA411202089	122	R>T		No	ClinGen gnomAD
rs985350784 CA323214354	123	D>G		No	ClinGen TOPMed
rs1367072264 CA411202061	126	R>Q		No	ClinGen gnomAD
rs568733949 CA10183299	126	R>W		No	ClinGen ExAC TOPMed gnomAD
CA411202055 rs1265988045	127	S>N		No	ClinGen gnomAD
CA10183298 rs560957647	129	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA323214346 rs978205334	130	L>V		No	ClinGen TOPMed gnomAD
CA411202029 rs1427611854	131	L>F		No	ClinGen gnomAD
rs1170724183 CA411202025	132	L>M		No	ClinGen gnomAD
rs773354534 CA10183297	133	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1020046988 CA323214336	133	R>W		No	ClinGen TOPMed gnomAD
CA10183296 rs772150274	135	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1363219688 CA411201990	137	L>Q		No	ClinGen TOPMed
rs1384457737 CA411201988	138	Q>E		No	ClinGen TOPMed
CA10183295 rs748211105	138	Q>R		No	ClinGen ExAC gnomAD
rs1337873529 CA411201968	140	Q>H		No	ClinGen gnomAD
rs1253282580 CA411201960	141	K>N		No	ClinGen gnomAD
TCGA novel	142	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10183287 rs758042299	144	K>N		No	ClinGen ExAC gnomAD
CA10183286 rs5749118	145	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411200888 rs5749118	145	R>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411200891 rs5749118	145	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1179340986 CA411200875	146	V>L		No	ClinGen gnomAD
CA411200856 rs1159039640	147	E>G		No	ClinGen gnomAD
CA411200860 rs1437069935	147	E>K		No	ClinGen gnomAD
rs1437069935 CA411200865	147	E>Q		No	ClinGen gnomAD
rs1366077042 CA411200797	150	I>M		No	ClinGen gnomAD
CA10183285 rs61742115	151	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1416650076 CA411200792	151	A>T		No	ClinGen TOPMed
CA323214209 rs112798791	153	F>S		No	ClinGen Ensembl
CA411200749 rs1423598473	154	G>S		No	ClinGen gnomAD
rs972706955 CA323214208	155	L>F		No	ClinGen TOPMed
CA323214205 rs1049020865	156	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA323214203 rs994814781	158	L>Q		No	ClinGen gnomAD
rs1203491404 CA411200672	159	G>D		No	ClinGen gnomAD
rs1412643483 CA411200660	161	R>M		No	ClinGen TOPMed
rs1243725552 CA411200657	162	D>N		No	ClinGen TOPMed gnomAD
CA10183284 rs545283132	164	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1316717964 CA411200636	165	K>Q		No	ClinGen TOPMed gnomAD
rs1363805565 CA411200619	167	G>E		No	ClinGen gnomAD
rs1401966825 CA411200591	171	L>P		No	ClinGen gnomAD
CA411200585 rs1387686321	172	Q>R		No	ClinGen gnomAD
CA411199849 rs1601880916	175	F>L		No	ClinGen Ensembl
CA411199852 rs1166432370	175	F>S		No	ClinGen gnomAD
rs1169810635 CA411199843	176	S>L		No	ClinGen TOPMed
CA411199839 rs1476431281	177	A>V		No	ClinGen gnomAD
rs1030759714 CA323213301	178	L>F		No	ClinGen TOPMed gnomAD
CA323213299 rs112068496	181	N>T		No	ClinGen TOPMed gnomAD
CA411199740 rs1489826633	183	P>R		No	ClinGen gnomAD
CA323213287 rs1053610053	184	E>A		No	ClinGen TOPMed
CA411199704 rs1270995595	185	I>T		No	ClinGen gnomAD
CA411199691 rs1222862039	186	L>S		No	ClinGen gnomAD
CA411199669 rs1392925455	187	K>R		No	ClinGen gnomAD
TCGA novel	189	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335301150 CA411199611	190	I>T		No	ClinGen Ensembl
rs766718168 CA323213283	190	I>V		No	ClinGen Ensembl
rs1482611836 CA411199591	191	V>A		No	ClinGen gnomAD
CA323213218 rs983595070	194	A>V		No	ClinGen TOPMed
CA411199482 rs1601880527	195	P>S		No	ClinGen Ensembl
CA411199465 rs1568964762	196	K>N		No	ClinGen Ensembl
CA10183272 rs756516575	198	F>S		No	ClinGen ExAC
rs975759810 CA411199451	199	A>S		No	ClinGen TOPMed gnomAD
rs975759810 CA323213206	199	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	199	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411199446 rs1444848482	200	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA411199422 rs776611803	201	A>D		No	ClinGen TOPMed gnomAD
rs776611803 CA323213203	201	A>G		No	ClinGen TOPMed gnomAD
CA411199399 rs1373090054	203	N>D		No	ClinGen Ensembl
CA411199364 rs1293449884	205	V>A		No	ClinGen TOPMed
rs1336342264 CA411199346	206	K>M		No	ClinGen gnomAD
rs964589584 CA323213200	207	S>F		No	ClinGen TOPMed gnomAD
rs1468289713 CA411199335	207	S>P		No	ClinGen TOPMed gnomAD
rs1468289713 CA411199338	207	S>T		No	ClinGen TOPMed gnomAD
rs758093661 CA10183269	208	Y>F		No	ClinGen ExAC gnomAD
rs1177033729 CA411199321	208	Y>H		No	ClinGen gnomAD
CA323213194 rs911405863	209	M>V		No	ClinGen TOPMed gnomAD
rs1178685758 CA411199268	210	S>R		No	ClinGen gnomAD
CA10183268 rs752347895	211	E>K		No	ClinGen ExAC TOPMed gnomAD
CA323213184 rs770771225	212	E>D		No	ClinGen TOPMed gnomAD
rs1413011771 CA411199196	213	T>R		No	ClinGen TOPMed
CA10183267 rs746827312	214	R>C		No	ClinGen ExAC TOPMed gnomAD
CA323213165 rs754377152	214	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754377152 CA10183266	214	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746827312 CA323213180	214	R>S		No	ClinGen ExAC TOPMed gnomAD
CA10183265 rs753825877	215	R>G		No	ClinGen ExAC gnomAD
CA323213148 rs766210708	218	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10183264 rs766210708	218	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1225777715 CA411199076	221	G>E		No	ClinGen gnomAD
rs772822156 CA323213143	221	G>R		No	ClinGen gnomAD
CA10183246 rs780076327	223	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1301017452 CA411197108	223	N>K		No	ClinGen TOPMed gnomAD
CA10183245 rs756020726	224	W>R		No	ClinGen ExAC gnomAD
CA10183244 rs750315185	225	K>N		No	ClinGen ExAC gnomAD
CA411197074 rs1169384074	226	Q>*		No	ClinGen gnomAD
CA411197039 rs1421080076	228	L>Q		No	ClinGen gnomAD
CA10183243 rs767335252	230	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1432523380 CA411197004	231	F>L		No	ClinGen TOPMed
CA411196989 rs1268841690	232	I>L		No	ClinGen gnomAD
CA10183242 rs761532582	232	I>M		No	ClinGen ExAC TOPMed gnomAD
CA411196987 rs1268841690	232	I>V		No	ClinGen gnomAD
CA10183241 rs751796981	233	S>N		No	ClinGen ExAC
rs764210287 CA10183240	233	S>R		No	ClinGen ExAC gnomAD
CA411196961 rs1601875500	234	P>S		No	ClinGen Ensembl
CA411196939 rs1282053904	235	D>E		No	ClinGen TOPMed gnomAD
CA10183239 rs187889757	235	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411196922 rs1213444238	236	Q>H		No	ClinGen TOPMed gnomAD
rs556275669 CA10183237	239	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10183235 rs777212021	241	F>L		No	ClinGen ExAC gnomAD
rs113062064 CA10183236	241	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411196826 rs771434235	242	G>A		No	ClinGen ExAC TOPMed gnomAD
rs771434235 CA10183234	242	G>E		No	ClinGen ExAC TOPMed gnomAD
CA411196823 rs1297222952	243	G>R		No	ClinGen gnomAD
CA10183231 rs138934158	244	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10183229 rs183840901	245	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183840901 CA10183230	245	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs942327506 CA323207981	245	M>V		No	ClinGen gnomAD
CA411196764 rs755585089	246	T>I		No	ClinGen ExAC TOPMed gnomAD
rs755585089 CA10183227	246	T>N		No	ClinGen ExAC TOPMed gnomAD
CA10183228 rs779449364	246	T>P		No	ClinGen ExAC gnomAD
CA411196724 rs1414705960	248	P>L		No	ClinGen TOPMed
rs535344580 CA10183223	249	D>A		No	ClinGen 1000Genomes ExAC gnomAD
CA10183224 rs757105620	249	D>N		No	ClinGen ExAC TOPMed gnomAD
rs764418374 CA10183222	250	G>A		No	ClinGen ExAC gnomAD
CA10183221 rs758527801	251	N>K		No	ClinGen ExAC TOPMed gnomAD
CA10183220 rs752916951	252	P>S		No	ClinGen ExAC gnomAD
CA323207934 rs921192966	253	K>R		No	ClinGen TOPMed
CA10183219 rs765410801	255	L>V		No	ClinGen ExAC TOPMed gnomAD
rs759629933 CA10183218	256	T>I		No	ClinGen ExAC gnomAD
rs766985879 CA10183216	257	K>N		No	ClinGen ExAC gnomAD
TCGA novel	258	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10183201 rs765540596	259	N>K		No	ClinGen ExAC gnomAD
CA10183202 rs558758300	259	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538834258 CA10183198	261	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538834258 CA10183199	261	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773725890 CA10183196	262	G>A		No	ClinGen ExAC TOPMed gnomAD
rs773725890 CA411196383	262	G>D		No	ClinGen ExAC TOPMed gnomAD
CA411196394 rs761104491	262	G>R		No	ClinGen ExAC TOPMed gnomAD
rs761104491 CA10183197	262	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	262	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411196386 rs773725890	262	G>V		No	ClinGen ExAC TOPMed gnomAD
rs767781982 CA10183195	263	E>G		No	ClinGen ExAC gnomAD
CA10183193 rs569856768	264	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411196358 rs569856768	264	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	266	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	267	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568961593 CA411196260	268	Y>C		No	ClinGen Ensembl
CA411196224 rs1241569922	271	C>G		No	ClinGen gnomAD
CA10183189 rs549859955	272	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549859955 CA411196204	272	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411196178 rs1260943628	273	Q>P		No	ClinGen gnomAD
rs1274097335 CA411196151	274	V>G		No	ClinGen TOPMed
CA411196142 rs1352546331	275	R>T		No	ClinGen gnomAD
CA411196072 rs1245011414	279	E>A		No	ClinGen gnomAD
rs758183805 CA10183186	280	H>P		No	ClinGen ExAC TOPMed gnomAD
rs747969784 CA10183185	281	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10183183 rs755224940	282	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10183182 rs754062707	283	S>P		No	ClinGen ExAC gnomAD
CA411195952 rs1424429142	284	V>A		No	ClinGen TOPMed gnomAD
rs370963681 CA10183180	284	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1221461115 CA411195939	285	G>A		No	ClinGen TOPMed
rs1221461115 CA411195940	285	G>D		No	ClinGen TOPMed
rs567661196 CA10183178	286	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200755426 CA10183177	286	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1191148026 CA411195922	287	G>S		No	ClinGen TOPMed gnomAD
CA323207700 rs866549029	288	S>F		No	ClinGen Ensembl
rs759210752 CA10183174	288	S>P		No	ClinGen ExAC gnomAD
rs760216929 CA10183171	295	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772014266 CA10183169	297	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1229018979 CA411195672	298	F>L		No	ClinGen gnomAD
rs747938203 CA10183168	298	F>S		No	ClinGen ExAC TOPMed gnomAD
CA10183167 rs778868923	299	P>L		No	ClinGen ExAC TOPMed gnomAD
CA323207661 rs912969440	300	G>C		No	ClinGen TOPMed gnomAD
rs1404709800 CA411195654	300	G>D		No	ClinGen gnomAD
CA411195656 rs912969440	300	G>S		No	ClinGen TOPMed gnomAD
CA411195630 rs1364170751	302	V>L		No	ClinGen gnomAD
CA411195620 rs1325740934	303	L>H		No	ClinGen gnomAD
CA10183146 rs558818581	305	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411195532 rs1462823988	306	Q>R		No	ClinGen TOPMed
CA10183145 rs770029698	308	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10183144 rs745984133	310	D>E		No	ClinGen ExAC gnomAD
rs757246246 CA10183142	312	G>R		No	ClinGen ExAC TOPMed gnomAD
rs747520533 CA10183141	314	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1201263496 CA411195402	314	I>V		No	ClinGen gnomAD
CA10183139 rs758826578	315	G>D		No	ClinGen ExAC TOPMed gnomAD
rs765995692 CA10183137	316	F>S		No	ClinGen ExAC gnomAD
rs765995692 CA411195359	316	F>Y		No	ClinGen ExAC gnomAD
CA323207555 rs867598790	320	L>V		No	ClinGen gnomAD
rs1377959807 CA411195292	321	K>N		No	ClinGen gnomAD
rs750000205 CA10183135	322	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1015065877 CA411195285	322	T>I		No	ClinGen TOPMed gnomAD
rs1015065877 CA323207541	322	T>N		No	ClinGen TOPMed gnomAD
CA411195247 rs61730450 CA411195249 CA10183132	324	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1601874234 CA411195255	324	M>T		No	ClinGen Ensembl
CA639387942 rs1176779305	324	M>V		No	ClinGen gnomAD
rs1405574208 CA411195245	325	G>R		No	ClinGen gnomAD
CA10183130 COSM1484152 COSM444868 rs764125499	327	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs200236380 CA10183131	327	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10183129 rs762885388	329	R>K		No	ClinGen ExAC gnomAD
rs1371001054 CA411195183	329	R>S		No	ClinGen TOPMed gnomAD
rs1297527496 CA411195177	330	A>S		No	ClinGen gnomAD
rs775337255 CA10183128	331	R>K		No	ClinGen ExAC TOPMed gnomAD
CA323207516 rs560718005	333	M>I		No	ClinGen Ensembl
CA10183126 rs746133913	334	T>A		No	ClinGen ExAC gnomAD
rs747086516 CA10183123 CA10183124	335	E>D		No	ClinGen ExAC gnomAD
CA411195091 rs1242811069	336	V>A		No	ClinGen gnomAD
rs1476181998 CA411195083	337	L>P		No	ClinGen TOPMed
CA10183121 rs778290871	338	P>S		No	ClinGen ExAC gnomAD
CA411195059 rs1454087710	339	S>N		No	ClinGen TOPMed
CA411195045 rs1243859877	340	Q>*		No	ClinGen gnomAD
CA10183120 rs758881299	340	Q>R		No	ClinGen ExAC gnomAD
rs779361969 CA10183118	341	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10183117 rs567624094	341	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779361969 CA10183119	341	R>S		No	ClinGen ExAC TOPMed gnomAD
rs767066738 CA10183115	345	H>P		No	ClinGen ExAC gnomAD
rs547797736 CA10183114	346	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751086784 CA10183113	347	V>L		No	ClinGen ExAC TOPMed gnomAD
CA411194939 rs1413946041	348	P>S		No	ClinGen gnomAD
CA10183111 rs763007367	351	G>V		No	ClinGen ExAC TOPMed gnomAD
rs545275660 CA10183108	352	I>S		No	ClinGen ExAC gnomAD
rs1601873820 CA411194854	354	T>I		No	ClinGen Ensembl
CA10183106 rs771109595	354	T>P		No	ClinGen ExAC gnomAD
rs747139994 CA411194836	356	L>F		No	ClinGen ExAC TOPMed gnomAD
CA10183105 rs747139994	356	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1214065963 CA411194823	357	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1044172325 CA323207386	358	A>T		No	ClinGen TOPMed
rs779227994 CA10183100	359	G>D		No	ClinGen ExAC gnomAD
CA10183101 rs748689192	359	G>S		No	ClinGen ExAC TOPMed gnomAD
rs779227994 CA411194792	359	G>V		No	ClinGen ExAC gnomAD
rs769119097 CA10183099	360	S>G		No	ClinGen ExAC gnomAD
CA411194781 rs1300875748	360	S>I		No	ClinGen gnomAD
CA323207205 rs866036817	362	V>F		No	ClinGen TOPMed gnomAD
CA411194723 rs866036817	362	V>I		No	ClinGen TOPMed gnomAD
rs1385120577 CA411194697	364	R>K		No	ClinGen TOPMed gnomAD
rs1385120577 CA411194694	364	R>M		No	ClinGen TOPMed gnomAD
rs1044165457 CA323207202	365	F>I		No	ClinGen Ensembl
CA411194651 rs1420372045	367	N>I		No	ClinGen TOPMed
rs1420372045 CA411194653	367	N>S		No	ClinGen TOPMed
CA411194658 rs1268312563	367	N>Y		No	ClinGen gnomAD
CA411194630 rs1176878629	369	Y>H		No	ClinGen gnomAD
CA10183085 rs759541331	370	S>T		No	ClinGen ExAC TOPMed gnomAD
rs545306184 CA323207177	374	S>Y		No	ClinGen 1000Genomes TOPMed gnomAD
rs576294691 CA10183083	376	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1312629497 CA411194549	376	R>H		No	ClinGen TOPMed gnomAD
rs1312629497 CA411194547	376	R>L		No	ClinGen TOPMed gnomAD
CA411194541 rs1305817051	377	I>F		No	ClinGen gnomAD
rs1389369111 CA411194534	377	I>M		No	ClinGen gnomAD
CA323207165 rs1052293351	379	Y>C		No	ClinGen TOPMed gnomAD
CA323207170 rs1048037981	379	Y>H		No	ClinGen Ensembl
CA411194503 rs1432508231	380	T>A		No	ClinGen TOPMed
CA323207162 rs200443600 CA323207163	381	V>L		No	ClinGen ExAC TOPMed gnomAD
rs200443600 CA10183081	381	V>M		No	ClinGen ExAC TOPMed gnomAD
rs948129906 CA323207157	385	L>H		No	ClinGen TOPMed gnomAD
rs920510969 CA323207154	387	D>E		No	ClinGen TOPMed gnomAD
rs1486899643 CA411194352	391	M>I		No	ClinGen TOPMed
CA411194364 rs1467871728	391	M>V		No	ClinGen TOPMed gnomAD
CA411194341 rs1378624485	392	E>G		No	ClinGen gnomAD
TCGA novel	395	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411194294 rs1158859318	395	E>G		No	ClinGen gnomAD
rs1438014160 CA411194258	397	F>L		No	ClinGen gnomAD

No associated diseases with B5MCN3

3 regional properties for B5MCN3

Type	Name	Position	InterPro Accession
domain	CRAL-TRIO lipid binding domain	76 - 249	IPR001251
domain	GOLD domain	252 - 383	IPR009038
domain	CRAL/TRIO, N-terminal domain	34 - 59	IPR011074

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

26 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5SYC1	CLVS2	Clavesin-2	Homo sapiens (Human)	PR
Q9BTX7	TTPAL	Alpha-tocopherol transfer protein-like	Homo sapiens (Human)	PR
Q8IUQ0	CLVS1	Clavesin-1	Homo sapiens (Human)	PR
Q92503	SEC14L1	SEC14-like protein 1	Homo sapiens (Human)	PR
Q9UDX3	SEC14L4	SEC14-like protein 4	Homo sapiens (Human)	PR
Q8BG92	Clvs2	Clavesin-2	Mus musculus (Mouse)	PR
Q9D4C9	Clvs1	Clavesin-1	Mus musculus (Mouse)	PR
Q9D3D0	Ttpal	Alpha-tocopherol transfer protein-like	Mus musculus (Mouse)	PR
Q8R0F9	Sec14l4	SEC14-like protein 4	Mus musculus (Mouse)	PR
A6JFQ6	Clvs1	Clavesin-1	Rattus norvegicus (Rat)	PR
A6JUQ6	Clvs2	Clavesin-2	Rattus norvegicus (Rat)	PR
Q09270	C34C12.6	CRAL-TRIO domain-containing protein C34C12.6	Caenorhabditis elegans	PR
Q8GXC6	SFH5	Phosphatidylinositol/phosphatidylcholine transfer protein SFH5	Arabidopsis thaliana (Mouse-ear cress)	PR
F4IHJ0	SFH8	Phosphatidylinositol/phosphatidylcholine transfer protein SFH8	Arabidopsis thaliana (Mouse-ear cress)	PR
Q93ZE9	SFH3	Phosphatidylinositol/phosphatidylcholine transfer protein SFH3	Arabidopsis thaliana (Mouse-ear cress)	PR
F4JVA6	SFH6	Phosphatidylinositol/phosphatidylcholine transfer protein SFH6	Arabidopsis thaliana (Mouse-ear cress)	PR
F4J7S8	SFH9	Phosphatidylinositol/phosphatidylcholine transfer protein SFH9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q56WK6	PATL1	Patellin-1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q56Z59	PATL3	Patellin-3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q56ZI2	PATL2	Patellin-2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q94A34	SFH12	Phosphatidylinositol/phosphatidylcholine transfer protein SFH12	Arabidopsis thaliana (Mouse-ear cress)	PR
Q94C59	PATL4	Patellin-4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M0R2	PATL5	Patellin-5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SI13	SFH10	Phosphatidylinositol/phosphatidylcholine transfer protein SFH10	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SIW3	SFH7	Phosphatidylinositol/phosphatidylcholine transfer protein SFH7	Arabidopsis thaliana (Mouse-ear cress)	PR
Q5SPP0	clvs2	Clavesin-2	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MSGQVGDLSP	SQEKSLAQFR	ENIQDVLSAL	PNPDDYFLLR	WLQARSFDLQ	KSEDMLRKHM
70	80	90	100	110	120
EFRKQQDLAN	ILAWQPPEVV	RLYNANGICG	HDGEGSPVWY	HIVGSLDPKG	LLLSASKQEL
130	140	150	160	170	180
LRDSFRSCEL	LLRECELQSQ	KLGKRVEKII	AIFGLEGLGL	RDLWKPGIEL	LQEFFSALEA
190	200	210	220	230	240
NYPEILKSLI	VVRAPKLFAV	AFNLVKSYMS	EETRRKVVIL	GDNWKQELTK	FISPDQLPVE
250	260	270	280	290	300
FGGTMTDPDG	NPKCLTKINY	GGEVPKSYYL	CKQVRLQYEH	TRSVGRGSSL	QVENEILFPG
310	320	330	340	350	360
CVLRWQFASD	GGDIGFGVFL	KTKMGERQRA	REMTEVLPSQ	RYNAHMVPED	GILTCLQAGS
370	380	390
YVLRFYNTYS	LVHSKRISYT	VEVLLPDQTF	MEKMEKF