AiPD: Autoinhibited Protein Database

O75121

Gene name	MFAP3L (KIAA0626, HSD-39, HSD39)
Protein name	Microfibrillar-associated protein 3-like
Names	Testis development protein NYD-SP9
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9848
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

284-378 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

284-378 (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 O75121

Entry ID	Method	Resolution	Chain	Position	Source
AF-O75121-F1	Predicted				AlphaFoldDB

282 variants for O75121

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1375869515 COSM1053209 CA358755392	3	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA358755373 rs201918347	3	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3139268 rs201918347	3	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs764992942 CA3139267	4	L>W		No	ClinGen ExAC gnomAD
CA3139266 rs761639424	7	H>P		No	ClinGen ExAC TOPMed gnomAD
rs761639424 CA358755297	7	H>R		No	ClinGen ExAC TOPMed gnomAD
CA358755224 rs1465010082	10	V>L		No	ClinGen gnomAD
rs768342093 CA3139264	11	C>Y		No	ClinGen ExAC gnomAD
CA358755191 rs891964630	12	F>L		No	ClinGen TOPMed
CA109977494 rs891964630	12	F>V		No	ClinGen TOPMed
CA3139262 rs537747814	13	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1428579342 CA358755150	14	P>L		No	ClinGen TOPMed
TCGA novel	19	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1001023494 CA109977470	22	V>I		No	ClinGen Ensembl
CA3139258 rs771263749	24	T>I		No	ClinGen ExAC TOPMed gnomAD
rs771263749 CA3139259	24	T>S		No	ClinGen ExAC TOPMed gnomAD
rs547471341 CA3139254	28	A>S		No	ClinGen ExAC gnomAD
rs547471341 CA3139253	28	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3139251 rs750428007	31	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1296698214 CA358754690	34	S>N		No	ClinGen TOPMed
CA3139250 rs765218220	37	N>D		No	ClinGen ExAC gnomAD
rs1356456863 CA358754618	38	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA358754612 rs1356456863	38	G>V		No	ClinGen TOPMed gnomAD
CA3139249 rs200175417	39	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1402203116 CA358754564	40	N>K		No	ClinGen gnomAD
rs753611160 CA3139248	40	N>S		No	ClinGen ExAC TOPMed gnomAD
rs149673902 CA358754559 COSM371926	41	V>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3139247 rs149673902	41	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3139246 rs78090926	42	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358754529 rs1560980188	42	V>G		No	ClinGen Ensembl
CA358754508 rs139454409	44	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3139244 rs139454409	44	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs759040793 CA3139243	46	V>G		No	ClinGen ExAC gnomAD
rs546733917 CA3139241	48	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749615419 CA3139240	50	I>V		No	ClinGen ExAC gnomAD
rs773585276 CA3139239	52	R>K		No	ClinGen ExAC TOPMed gnomAD
CA3139237 rs534559156	54	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1420089390 CA358754392	54	D>G		No	ClinGen TOPMed
rs770162716 CA109977369	54	D>N		No	ClinGen ExAC TOPMed gnomAD
rs770162716 CA3139238	54	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA3139234 rs747073734	58	V>A		No	ClinGen ExAC gnomAD
rs368188871 CA3139235	58	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368188871 CA3139236	58	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	60	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3139233 rs778729005	62	N>D		No	ClinGen ExAC gnomAD
TCGA novel	65	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757155911 CA3139232	68	C>G		No	ClinGen ExAC gnomAD
CA358754221 rs757155911	68	C>R		No	ClinGen ExAC gnomAD
CA358754201 rs1296864566	71	Y>H		No	ClinGen gnomAD
CA358754175 rs1362364547	74	P>L		No	ClinGen gnomAD
rs1396303491 CA358754154	77	Q>H		No	ClinGen gnomAD
CA358754126 rs1161095389	81	Y>H		No	ClinGen gnomAD
rs1195186331 CA358754101	84	I>S		No	ClinGen TOPMed gnomAD
rs1195186331 CA358754102	84	I>T		No	ClinGen TOPMed gnomAD
rs767140737 CA3139227	84	I>V		No	ClinGen ExAC gnomAD
CA3139223 rs754250161	92	E>D		No	ClinGen TOPMed
CA358754038 rs1188083610	93	D>E		No	ClinGen TOPMed gnomAD
rs766825695 CA3139222	95	K>E		No	ClinGen ExAC gnomAD
rs763467684 COSM460654 CA3139221	96	E>K	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA109977264 rs966000796	97	R>S		No	ClinGen Ensembl
rs1356046713 CA358753975	98	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	103	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358749402 rs1368292174	104	M>V		No	ClinGen TOPMed
CA3139199 rs777070867	105	H>N		No	ClinGen ExAC gnomAD
CA3139197 rs760906723	106	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	108	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150502329 CA3139195	108	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA109969373 rs746556765	114	K>R		No	ClinGen Ensembl
CA358749279 rs1257747132	116	S>A		No	ClinGen TOPMed
CA109969362 rs779408117	118	S>L		No	ClinGen Ensembl
CA358749234 rs777699021	120	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1289780275 CA358749168	126	V>M		No	ClinGen gnomAD
CA358749142 rs970110580	128	S>C		No	ClinGen TOPMed
CA109969322 rs970110580	128	S>Y		No	ClinGen TOPMed
rs780916164 CA3139190	129	N>D		No	ClinGen ExAC TOPMed gnomAD
rs754706345 CA3139189	130	I>V		No	ClinGen ExAC gnomAD
CA358749115 rs1431023325	131	Y>C		No	ClinGen gnomAD
TCGA novel	132	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375301592 CA3139186	134	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs765843964 CA3139184	136	N>S		No	ClinGen ExAC gnomAD
rs986071436 CA109969228 COSM248781	141	R>H	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1261697991 CA358748916	142	V>I		No	ClinGen TOPMed gnomAD
CA109969205 rs370619460	143	I>V		No	ClinGen ESP
rs1411658074 CA358748864	145	T>A		No	ClinGen gnomAD
rs764605954 CA3139181	145	T>S		No	ClinGen ExAC gnomAD
rs775852125 CA3139179	146	S>C		No	ClinGen ExAC gnomAD
rs760919791 CA3139180	146	S>T		No	ClinGen ExAC gnomAD
CA358748765 rs1280762576	151	V>D		No	ClinGen TOPMed
rs1341834971 CA358748749	152	Y>C		No	ClinGen TOPMed
TCGA novel	153	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759663336 CA3139177	155	V>I		No	ClinGen ExAC gnomAD
rs1218794555 CA358748683	156	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA358748584 rs1581442964	162	T>P		No	ClinGen Ensembl
rs1273579280 CA358748573	163	I>L		No	ClinGen gnomAD
rs1273579280 CA358748571	163	I>V		No	ClinGen gnomAD
rs146135699 CA3139175	164	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	165	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3139174 rs377472445	165	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1365981077 CA358748470	169	I>V		No	ClinGen gnomAD
rs781075953 CA3139173	170	T>P		No	ClinGen ExAC gnomAD
rs202167757 CA3139171	171	R>C		No	ClinGen 1000Genomes ExAC gnomAD
COSM1158165 CA3139170 rs779772218	171	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3139169 rs757922344	174	M>I		No	ClinGen ExAC gnomAD
rs749984776 CA3139168	175	M>I		No	ClinGen ExAC gnomAD
rs1451493555 CA358748412	175	M>R		No	ClinGen TOPMed
rs569504276 CA3139167	176	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA358748388 rs1186202496	178	H>L		No	ClinGen gnomAD
TCGA novel	180	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3139165 rs142955967	184	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1671435 CA109969071 rs200622205	185	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1319657092 CA358748327	187	N>S		No	ClinGen gnomAD
rs764506878 CA3139164	189	F>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	191	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215065488 CA358748290	192	T>I		No	ClinGen gnomAD
rs750004623 CA109969058	193	E>K		No	ClinGen gnomAD
rs1164728016 CA358748280	194	G>S		No	ClinGen TOPMed
rs1348481095 CA358748207	204	I>F		No	ClinGen gnomAD
CA3139160 COSM1428562 rs759625030	205	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1055702833 CA109969012	207	R>H		No	ClinGen Ensembl
TCGA novel	207	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA109969000 rs548398093	211	I>V		No	ClinGen 1000Genomes
CA358748158 rs1581442245	212	T>P		No	ClinGen Ensembl
CA3139159 rs774533195	214	A>T		No	ClinGen ExAC TOPMed gnomAD
CA358748142 rs1176719871	214	A>V		No	ClinGen gnomAD
TCGA novel	217	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1045944963 CA109968968	227	T>I		No	ClinGen Ensembl
CA358747973 rs1581442112	227	T>P		No	ClinGen Ensembl
CA109968966 rs971464649	228	M>R		No	ClinGen Ensembl
TCGA novel	229	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768422205 CA3139155	231	A>P		No	ClinGen ExAC gnomAD
rs768422205 CA109968944	231	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775108319 CA3139153	232	R>C		No	ClinGen ExAC gnomAD
rs1246565821 CA358747876 COSM276063	232	R>H	pancreas large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3139152 rs771779329	233	Y>H		No	ClinGen ExAC gnomAD
rs536326972 CA109968880	234	I>M		No	ClinGen 1000Genomes ExAC gnomAD
COSM1671434 CA109968878 rs972243484	235	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA358747791 rs1365842632	237	L>F		No	ClinGen gnomAD
rs1356101904 CA358747757	239	R>G		No	ClinGen TOPMed
rs778680999 CA3139150	239	R>S		No	ClinGen ExAC gnomAD
COSM368178 CA3139148 rs200379070	241	V>M	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC
rs1227048553 CA358747652	242	P>S		No	ClinGen TOPMed
CA3139146 rs201000129	244	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358747594 rs201000129	244	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3139147 rs371611847	244	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs755303677 CA3139143	245	P>R		No	ClinGen ExAC gnomAD
rs1423948446 CA358747458 COSM1618593	248	M>I	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA358747488 rs1444303083	248	M>L		No	ClinGen TOPMed
CA3139141 rs766572672	248	M>T		No	ClinGen ExAC gnomAD
rs913578151 CA109968814	249	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA358747371 rs1472333166	251	R>K		No	ClinGen TOPMed
TCGA novel	251	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773101411 CA3139139	253	I>V		No	ClinGen ExAC gnomAD
rs1249401861 CA358747311	254	M>V		No	ClinGen TOPMed gnomAD
rs764123825 CA3139138	257	I>M		No	ClinGen ExAC gnomAD
rs760481483 CA3139136	260	V>L		No	ClinGen ExAC gnomAD
rs565533680 CA3139134	261	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3139135 rs775480164	261	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3139133 rs745656390	262	G>R		No	ClinGen ExAC TOPMed gnomAD
CA109968746 rs79533874	264	E>G		No	ClinGen Ensembl
CA358747080 rs1157479489	264	E>K		No	ClinGen TOPMed
rs1409735740 CA358746901	271	V>G		No	ClinGen gnomAD
rs1286895776 CA358746915	271	V>L		No	ClinGen gnomAD
rs199802014 CA109968729	273	H>R		No	ClinGen Ensembl
rs1380611275 CA358746849	274	T>A		No	ClinGen gnomAD
rs1464054654 CA358746833	275	P>A		No	ClinGen gnomAD
rs1464054654 CA358746830	275	P>S		No	ClinGen gnomAD
rs1464054654 CA358746835	275	P>T		No	ClinGen gnomAD
CA109968709 rs1030668423	277	G>S		No	ClinGen Ensembl
rs975993027 CA109968697	278	Q>K		No	ClinGen TOPMed gnomAD
rs755624426 CA3139128	278	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3139127 rs748642926	279	E>K		No	ClinGen ExAC gnomAD
rs746378548 CA109968664	280	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs376999753 CA3139126	281	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258115163 CA358746693	282	D>E		No	ClinGen gnomAD
rs755391499 CA3139125	283	R>K		No	ClinGen ExAC TOPMed
CA109968631 rs1012099842	283	R>S		No	ClinGen gnomAD
rs145684048 CA3139124	284	D>G		No	ClinGen ESP ExAC gnomAD
CA358746544 rs1460308068	287	Y>C		No	ClinGen TOPMed gnomAD
CA3139123 rs766593294	288	T>I		No	ClinGen ExAC gnomAD
rs1262630545 CA358746489	288	T>P		No	ClinGen gnomAD
CA3139120 rs765283300	289	I>M		No	ClinGen ExAC TOPMed gnomAD
rs750539749 CA3139121	289	I>S		No	ClinGen ExAC gnomAD
rs373773015 CA3139122	289	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761925552 CA3139119	290	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1201160877 CA358746369	291	N>D		No	ClinGen TOPMed
rs1394844140 CA358746362	291	N>I		No	ClinGen gnomAD
rs759421553 COSM1428560 CA3139116	295	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3139117 rs184358631	295	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA358746221 rs1458181081	297	D>A		No	ClinGen gnomAD
rs532086492 CA358746231	297	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532086492 CA3139114	297	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1458181081 CA358746215	297	D>V		No	ClinGen gnomAD
rs546376627 CA109968550	298	S>C		No	ClinGen ExAC TOPMed gnomAD
rs546376627 CA3139112	298	S>F		No	ClinGen ExAC TOPMed gnomAD
rs762739606 CA3139113	298	S>P		No	ClinGen ExAC gnomAD
CA109968551 rs546376627	298	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs769254312 CA3139111	299	P>S		No	ClinGen ExAC gnomAD
CA3139109 rs781562203	301	A>S		No	ClinGen ExAC gnomAD
rs781562203 CA3139110	301	A>T		No	ClinGen ExAC gnomAD
CA3139108 rs544525337	302	D>E		No	ClinGen ExAC
CA358746075 rs1189366302	303	S>T		No	ClinGen gnomAD
CA109968519 rs960028016	303	S>W		No	ClinGen TOPMed
CA3139106 rs377059924	304	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779194317 CA3139104	305	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3139103 rs779194317	305	A>T		No	ClinGen ExAC TOPMed gnomAD
rs138731776 CA3139101	307	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs751518047 CA3139098	310	E>K		No	ClinGen ExAC gnomAD
rs1362434565 CA358745912	311	Q>K		No	ClinGen gnomAD
rs941791341 CA109968442	311	Q>L		No	ClinGen Ensembl
rs1445606623 CA358745840	316	A>D		No	ClinGen TOPMed gnomAD
CA358745842 rs1317152008	316	A>S		No	ClinGen gnomAD
rs899677532 CA358745833	317	I>F		No	ClinGen TOPMed gnomAD
rs899677532 CA109968436	317	I>V		No	ClinGen TOPMed gnomAD
rs1392586836 CA358745811	318	K>N		No	ClinGen TOPMed gnomAD
rs140886353 CA3139095 COSM3392771	323	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1390639442 CA358745772	323	P>S		No	ClinGen TOPMed gnomAD
CA358745774 rs1390639442	323	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	328	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs559405996 CA3139092	329	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA3139091 rs776080666	330	A>V		No	ClinGen ExAC TOPMed gnomAD
CA358745674 rs1434880576	331	D>G		No	ClinGen TOPMed
rs747565582 CA3139089	332	D>A		No	ClinGen ExAC gnomAD
TCGA novel	332	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA109968361 rs1052525298	334	E>K		No	ClinGen TOPMed
rs1339402974 CA358745609	335	G>V		No	ClinGen gnomAD
CA358745598 rs1172389283	336	G>A		No	ClinGen TOPMed
rs1233500832 CA358745591	337	Q>E		No	ClinGen gnomAD
CA3139085 rs746232455	340	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1404044118 CA358745536	341	K>Q		No	ClinGen gnomAD
rs147638184 CA3139083	343	V>A		No	ClinGen ESP ExAC gnomAD
rs1394407680 CA358745480	344	E>G		No	ClinGen gnomAD
CA358745471 rs1167478603	345	E>K		No	ClinGen gnomAD
CA3139081 rs540620680	348	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA109968326 rs913085794	348	L>V		No	ClinGen Ensembl
CA3139079 rs576425047	349	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs61997061 CA3139078	350	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61997061 CA3139077	350	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs992891088 CA109968296	352	H>R		No	ClinGen TOPMed gnomAD
rs761478591 CA3139074	353	S>A		No	ClinGen ExAC gnomAD
rs1001544423 CA109968255	354	P>L		No	ClinGen Ensembl
rs776243508 COSM321670 CA3139073	354	P>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3139070 rs377317381	355	E>K		No	ClinGen ESP TOPMed
TCGA novel	355	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA109968229 rs372967020	356	T>S		No	ClinGen ESP TOPMed gnomAD
CA3139069 rs536930834	357	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs776037790 CA3139068	358	E>K		No	ClinGen ExAC gnomAD
rs746227083 CA3139066	359	P>A		No	ClinGen ExAC TOPMed gnomAD
CA358745215 rs749560164	362	D>H		No	ClinGen ExAC TOPMed gnomAD
CA358745217 rs749560164	362	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3139063 rs749560164	362	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA358745190 rs1477317597	364	T>A		No	ClinGen TOPMed
CA3139061 rs369159449	364	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA358745178 rs1458809311	365	S>P		No	ClinGen TOPMed
rs780144342 CA3139059	366	T>A		No	ClinGen ExAC TOPMed gnomAD
rs191559223 CA3139056	367	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1232749940 CA358745139	368	L>I		No	ClinGen TOPMed gnomAD
rs372563344 CA109968103	369	T>I		No	ClinGen ESP TOPMed
CA3139055 rs756972584	370	S>C		No	ClinGen ExAC TOPMed gnomAD
CA358745105 rs1253514146	371	E>K		No	ClinGen gnomAD
rs1329512084 CA358745063	374	T>A		No	ClinGen gnomAD
CA358745056 rs1269633741	374	T>I		No	ClinGen gnomAD
rs369043041 CA3139053	377	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375869260 CA3139051	381	K>E		No	ClinGen ESP ExAC gnomAD
rs767944252 COSM124424 CA3139050	384	P>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1560961244 CA358744832	389	E>K		No	ClinGen Ensembl
CA358744802 rs1238112471	391	T>A		No	ClinGen gnomAD
CA358744794 rs1263296183	391	T>R		No	ClinGen TOPMed
rs774685370 CA3139048	395	V>G		No	ClinGen ExAC gnomAD
CA109968057 rs771390953	397	H>L		No	ClinGen ExAC TOPMed gnomAD
CA3139047 rs771390953	397	H>P		No	ClinGen ExAC TOPMed gnomAD
rs1474087345 CA358744695	397	H>Q		No	ClinGen gnomAD
rs1485316438 CA358744683	398	D>A		No	ClinGen TOPMed
rs1005728609 CA109968041	399	K>R		No	ClinGen gnomAD
rs1464965887 CA358744618	402	C>Y		No	ClinGen gnomAD
rs143878233 CA3139045	404	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1290384838 CA358744512	406	E>D		No	ClinGen gnomAD
CA3139043 rs748269579	406	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3139041 rs372648387	408	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs781284115 CA3139042	408	H>Y		No	ClinGen ExAC gnomAD
CA109967990 rs892189392	409	V>A		No	ClinGen TOPMed gnomAD
CA358744453 rs1581438216	409	V>I		No	ClinGen Ensembl
rs745858308 CA3139040	410	V>S		No	ClinGen ExAC gnomAD

No associated diseases with O75121

2 regional properties for O75121

Type	Name	Position	InterPro Accession
domain	Ubiquitin-conjugating enzyme E2	30 - 175	IPR000608
active_site	Ubiquitin-conjugating enzyme, active site	103 - 118	IPR023313

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Nucleus Cytoplasm	Mainly localized in the nucleus (PubMed:24735981)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

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

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q28103	MFAP3	Microfibril-associated glycoprotein 3	Bos taurus (Bovine)	PR
Q922T2	Mfap3	Microfibril-associated glycoprotein 3	Mus musculus (Mouse)	PR
Q9D3X9	Mfap3l	Microfibrillar-associated protein 3-like	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDRLKSHLTV	CFLPSVPFLI	LVSTLATAKS	VTNSTLNGTN	VVLGSVPVII	ARTDHIIVKE
70	80	90	100	110	120
GNSALINCSV	YGIPDPQFKW	YNSIGKLLKE	EEDEKERGGG	KWQMHDSGLL	NITKVSFSDR
130	140	150	160	170	180
GKYTCVASNI	YGTVNNTVTL	RVIFTSGDMG	VYYMVVCLVA	FTIVMVLNIT	RLCMMSSHLK
190	200	210	220	230	240
KTEKAINEFF	RTEGAEKLQK	AFEIAKRIPI	ITSAKTLELA	KVTQFKTMEF	ARYIEELARS
250	260	270	280	290	300
VPLPPLIMNC	RTIMEEIMEV	VGLEEQGQNF	VRHTPEGQEA	ADRDEVYTIP	NSLKRSDSPA
310	320	330	340	350	360
ADSDASSLHE	QPQQIAIKVS	VHPQSKKEHA	DDQEGGQFEV	KDVEETELSA	EHSPETAEPS
370	380	390	400
TDVTSTELTS	EEPTPVEVPD	KVLPPAYLEA	TEPAVTHDKN	TCIIYESHV