AiPD: Autoinhibited Protein Database

Q86VV4

Gene name	RANBP3L
Protein name	Ran-binding protein 3-like
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:202151
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-317 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-317 (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 Q86VV4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86VV4-F1	Predicted				AlphaFoldDB

373 variants for Q86VV4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3235281 rs766784714	3	T>S		No	ClinGen ExAC gnomAD
rs761014036 CA3235280	4	I>T		No	ClinGen ExAC gnomAD
CA3235278 rs772233115	5	P>L		No	ClinGen ExAC gnomAD
CA359604470 rs555708030	5	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3235279 rs555708030	5	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3235277 rs748154461	7	K>N		No	ClinGen ExAC gnomAD
CA359604444 rs1319003227	9	S>N		No	ClinGen gnomAD
rs1579813593 CA359604426	11	H>L		No	ClinGen Ensembl
rs768607542 CA3235275	12	L>V		No	ClinGen ExAC gnomAD
rs369444875 COSM78391 CA3235274	13	P>L	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3235272 rs755849987	14	G>A		No	ClinGen ExAC gnomAD
CA3235273 rs779840724	14	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3235271 rs200700462	15	S>N		No	ClinGen ExAC gnomAD
rs923828851 CA359604401	16	L>*		No	ClinGen TOPMed
rs923828851 CA117397791	16	L>W		No	ClinGen TOPMed
CA359604392 rs1360843940	17	H>Y		No	ClinGen gnomAD
rs573322389 CA3235269	18	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3235268 rs751137610	18	T>I		No	ClinGen ExAC gnomAD
CA359604358 rs1166047917	19	C>Y		No	ClinGen TOPMed gnomAD
CA359604284 rs1486852879	24	Q>*		No	ClinGen gnomAD
rs755548569 CA3235266	25	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs199744327 CA359604248	27	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3235263 rs760916007	27	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3235264 rs199744327	27	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773531788 CA3235262	28	R>*		No	ClinGen ExAC TOPMed gnomAD
CA359604235 rs1245217748	28	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	30	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751764442 CA3235238	34	V>A		No	ClinGen ExAC gnomAD
TCGA novel	34	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3235237 rs764229043	36	A>T		No	ClinGen ExAC gnomAD
CA3235236 rs762993867	37	Q>*		No	ClinGen ExAC gnomAD
CA3235234 rs769641358	39	I>M		No	ClinGen ExAC TOPMed gnomAD
CA359490330 rs1263650466	39	I>T		No	ClinGen TOPMed
CA359490344 rs1196281797	39	I>V		No	ClinGen TOPMed gnomAD
CA3235233 rs776296794	41	V>A		No	ClinGen ExAC TOPMed gnomAD
rs776296794 CA3235232	41	V>D		No	ClinGen ExAC TOPMed gnomAD
CA3235231 rs555540890	42	F>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3235230 rs555540890	42	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3235229 rs201701912	44	K>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	44	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771757035 CA3235228	46	E>K		No	ClinGen ExAC gnomAD
rs747682597 CA3235227	47	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	49	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773091173 CA3235212	54	E>K		No	ClinGen ExAC gnomAD
rs773091173 CA3235213	54	E>Q		No	ClinGen ExAC gnomAD
rs1395512595 CA359489529	56	T>I		No	ClinGen TOPMed gnomAD
CA359489540 rs1395512595	56	T>N		No	ClinGen TOPMed gnomAD
COSM1543623 CA359489527 rs1400416220	57	L>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA117011988 rs547460207	58	Y>*		No	ClinGen Ensembl
CA359489427 rs1579720377	61	A>E		No	ClinGen Ensembl
rs756147056 CA117011987	63	P>S		No	ClinGen gnomAD
rs771881859 CA3235211	64	E>*		No	ClinGen ExAC TOPMed gnomAD
CA117011948 rs527887201	64	E>A		No	ClinGen Ensembl
rs374882075 CA117011947	65	C>R		No	ClinGen ESP gnomAD
CA3235198 rs753766600	68	F>S		No	ClinGen ExAC gnomAD
rs143793202 CA3235197	69	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA117011946 rs143793202	69	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1035480 CA359488428	70	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3235196 VAR_037557 rs1035480	70	T>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773141846 CA3235195	71	K>E		No	ClinGen ExAC gnomAD
rs761427287 CA3235193	72	R>C		No	ClinGen ExAC gnomAD
rs199694826 CA3235192	72	R>H	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA359488344 rs1424197263	73	V>L		No	ClinGen TOPMed
rs774935712 CA3235189	74	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3235190 COSM265358 rs146572714	74	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA359488272 rs1414751460	75	S>A		No	ClinGen TOPMed
CA359488269 rs1280234337	75	S>F		No	ClinGen gnomAD
rs1288724829 CA359488242	76	S>A		No	ClinGen gnomAD
CA3235187 rs747450419	77	S>P		No	ClinGen ExAC TOPMed gnomAD
rs747450419 CA117011945	77	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1340210614 CA359488093	81	H>Y		No	ClinGen gnomAD
TCGA novel	85	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	89	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3235186 rs778125250	89	G>E		No	ClinGen ExAC gnomAD
CA3235159 rs781256470	90	V>A		No	ClinGen ExAC gnomAD
rs1208938556 CA359485532	93	N>Y		No	ClinGen gnomAD
CA359485496 rs1489165384	94	N>T		No	ClinGen gnomAD
rs980376610 CA117011493	96	F>C		No	ClinGen gnomAD
TCGA novel	97	M>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3235155 rs762685212	98	T>I		No	ClinGen ExAC gnomAD
rs763730697 CA3235156	98	T>S		No	ClinGen ExAC gnomAD
CA359485349 rs1228410032	101	L>F		No	ClinGen gnomAD
CA359485333 rs1473588579	102	V>E		No	ClinGen TOPMed
rs752337102 CA3235154	102	V>L		No	ClinGen ExAC gnomAD
rs201055317 CA3235153	103	Q>P		No	ClinGen 1000Genomes ExAC
CA117011491 rs553690078	106	V>A		No	ClinGen gnomAD
rs553690078 CA359485260	106	V>G		No	ClinGen gnomAD
CA3235152 rs759018425	106	V>I		No	ClinGen ExAC gnomAD
CA3235151 rs776068342	108	I>L		No	ClinGen ExAC gnomAD
CA359485216 rs1453487781	109	K>Q		No	ClinGen gnomAD
VAR_037558 CA3235150 rs35433829	111	A>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs555248176 CA3235149	113	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
CA3235126 rs775949714	115	P>L		No	ClinGen ExAC gnomAD
rs746022159 CA3235124	120	K>E		No	ClinGen ExAC gnomAD
rs1367715683 CA359484133	121	H>R		No	ClinGen TOPMed
rs781346555 CA3235123	121	H>Y		No	ClinGen ExAC gnomAD
rs770906030 CA3235122	122	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3235121 rs747038144	124	R>K		No	ClinGen ExAC gnomAD
rs747038144 CA359484063	124	R>T		No	ClinGen ExAC gnomAD
rs777544107 CA3235120	126	A>P		No	ClinGen ExAC gnomAD
CA3235118 rs532457215	129	Q>R		No	ClinGen ExAC gnomAD
rs778609640 CA3235117	132	Q>E		No	ClinGen ExAC gnomAD
rs1329833940 CA359483823	133	A>T		No	ClinGen TOPMed
rs1174736629 CA359483802	133	A>V		No	ClinGen TOPMed gnomAD
CA117011453 rs267600614	134	R>*		No	ClinGen TOPMed gnomAD
rs150799200 COSM1437228 CA3235116	134	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs753415295 CA3235115	138	K>*		No	ClinGen ExAC gnomAD
CA3235114 rs202109062	138	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	139	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1453500646 CA359483703	139	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1180375219 CA359483649	141	K>E		No	ClinGen gnomAD
CA359483627 rs1189160107	142	T>I		No	ClinGen TOPMed
rs1561109315 CA359483597	143	F>C		No	ClinGen Ensembl
rs1266646903 CA359483508	147	A>E		No	ClinGen TOPMed
rs763516242 CA3235110	151	C>Y		No	ClinGen ExAC gnomAD
rs569339369 CA3235109	153	T>A		No	ClinGen ExAC gnomAD
rs569339369 CA117011452	153	T>P		No	ClinGen ExAC gnomAD
rs569339369 CA359483394	153	T>S		No	ClinGen ExAC gnomAD
CA359483371 rs1377683123	154	K>E		No	ClinGen TOPMed
rs1044508909 CA117011451	154	K>N		No	ClinGen Ensembl
rs1472064198 CA359483343	155	E>K		No	ClinGen TOPMed
TCGA novel	157	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753320710	157	T>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA359483210 rs1248123877	160	K>Q		No	ClinGen gnomAD
rs1313738198 CA359482183	161	I>V		No	ClinGen gnomAD
rs963301080 CA117011158	162	S>A		No	ClinGen Ensembl
CA117011157 rs767069945	162	S>C		No	ClinGen ExAC
CA3235091 rs767069945	162	S>F		No	ClinGen ExAC
rs758987512 CA3235090	163	E>K		No	ClinGen ExAC TOPMed gnomAD
rs868080304 CA117011156	164	G>R		No	ClinGen Ensembl
rs753243098 CA3235089	166	S>Y		No	ClinGen ExAC gnomAD
rs765768147 CA3235088	169	L>F		No	ClinGen ExAC gnomAD
rs759951786 CA3235087	171	E>V		No	ClinGen ExAC TOPMed gnomAD
CA359481810 rs1384180632	172	N>T		No	ClinGen gnomAD
rs776963502 CA359481781	173	L>F		No	ClinGen ExAC gnomAD
CA359481804 rs1156693848	173	L>V		No	ClinGen gnomAD
CA3235084 rs760882149	176	A>T		No	ClinGen ExAC gnomAD
rs773175345 CA3235083	176	A>V		No	ClinGen ExAC gnomAD
rs1264879858 CA359481674	178	I>N		No	ClinGen gnomAD
rs868141616 CA117011154	179	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA359481515 rs1359039035	184	T>I		No	ClinGen gnomAD
CA3235079 rs369501998	186	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA359481462 rs369501998	186	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3235078 rs376483705	186	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA359481426 rs1280274590	187	D>E		No	ClinGen gnomAD
CA359481434 rs1353871853	187	D>Y		No	ClinGen gnomAD
rs950749795 COSM1666425 CA117011151	190	G>C	eye [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA359481360 rs950749795	190	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	191	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA117011150 rs997462579	192	T>S		No	ClinGen TOPMed
rs1191548791 CA359481256	195	G>E		No	ClinGen TOPMed
CA359453588 rs1170734498	198	P>R		No	ClinGen gnomAD
CA359453592 rs1401788907	198	P>T		No	ClinGen gnomAD
rs1409058579 CA359453585	199	N>D		No	ClinGen gnomAD
rs1416930077 CA359453580	199	N>K		No	ClinGen gnomAD
rs1033329670 CA117011038	199	N>S		No	ClinGen Ensembl
rs1166585785 CA359453579	200	E>K		No	ClinGen gnomAD
CA117011037 rs924175718	203	C>R		No	ClinGen TOPMed gnomAD
rs376890834 CA3235061	203	C>Y		No	ClinGen ESP ExAC gnomAD
rs1579691711 CA359453539	205	F>S		No	ClinGen Ensembl
rs768609500 CA3235059	206	K>T		No	ClinGen ExAC gnomAD
rs143608109 CA3235058	207	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA359453508 rs1210754022	209	S>I		No	ClinGen TOPMed gnomAD
TCGA novel	209	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359453506 rs1348262548	209	S>R		No	ClinGen gnomAD
CA359453503 rs1302615905	210	S>A		No	ClinGen gnomAD
rs917039922 CA117011035	211	N>T		No	ClinGen TOPMed
rs1378992697 CA359453473	214	F>C		No	ClinGen gnomAD
rs138050892 CA3235055	215	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3235053 rs369530524	216	E>G		No	ClinGen ESP ExAC gnomAD
CA3235054 rs780964105	216	E>K		No	ClinGen ExAC gnomAD
rs1335716850 CA359453458	217	N>D		No	ClinGen gnomAD
CA359453447 rs1416548668	218	M>T		No	ClinGen TOPMed gnomAD
TCGA novel	220	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359032384 CA359453435	220	E>Q		No	ClinGen TOPMed
TCGA novel	221	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1453180990 CA359453421	222	V>I		No	ClinGen gnomAD
rs1160410667 CA359453311	224	G>D		No	ClinGen gnomAD
CA359453301 rs1405930745	225	T>I		No	ClinGen TOPMed gnomAD
CA359453278 rs1227853885	227	K>N		No	ClinGen gnomAD
CA359453265 rs1579682774	229	T>P		No	ClinGen Ensembl
CA359453248 rs1257070021	230	Q>*		No	ClinGen gnomAD
CA359453241 rs1449514717	230	Q>R		No	ClinGen TOPMed
rs770741477 CA3235033	231	P>L		No	ClinGen ExAC gnomAD
rs772913076 CA3235031	232	Q>*		No	ClinGen ExAC gnomAD
CA3235032 rs772913076	232	Q>E		No	ClinGen ExAC gnomAD
rs771603279 CA3235030	233	L>F		No	ClinGen ExAC gnomAD
rs1286422523 CA359453135	235	N>K		No	ClinGen gnomAD
CA3235028 rs780587007	236	D>V		No	ClinGen ExAC TOPMed gnomAD
rs749796789 CA3235029	236	D>Y		No	ClinGen ExAC gnomAD
rs202231727 CA3235026	238	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA359453082 rs1579682521	239	A>D		No	ClinGen Ensembl
CA3235025 rs781467794	240	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1579682473 CA359453065	240	K>N		No	ClinGen Ensembl
CA359453076 rs781467794	240	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs932247292 CA117010739	242	K>T		No	ClinGen TOPMed
rs1431245459 CA359453030	243	P>L		No	ClinGen gnomAD
CA117010738 rs979555296	243	P>T		No	ClinGen TOPMed gnomAD
rs1364479289 CA359452992	246	S>F		No	ClinGen gnomAD
rs757485595 CA3235024	246	S>P		No	ClinGen ExAC TOPMed gnomAD
CA359452990 rs1364479289	246	S>Y		No	ClinGen gnomAD
rs1289782239 CA359452978	247	I>M		No	ClinGen gnomAD
CA3235023 rs751770258	248	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3235021 rs150084810	249	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1461967752 CA359452946	250	F>I		No	ClinGen gnomAD
CA3235020 rs752630263	250	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1579682215 CA359452934	251	P>S		No	ClinGen Ensembl
CA3235019 rs371570640	253	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA359452906 rs1162994917	253	N>T		No	ClinGen gnomAD
rs759509502 CA3235018	255	L>*		No	ClinGen ExAC gnomAD
rs759509502 CA359452838	255	L>S		No	ClinGen ExAC gnomAD
CA359452823 rs1484892191	256	S>T		No	ClinGen TOPMed gnomAD
CA3235015 rs760468586	257	S>*		No	ClinGen ExAC gnomAD
CA3235016 rs200661750	257	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1240484541 CA359452073	259	T>A		No	ClinGen TOPMed
rs758503610 CA359452052	260	D>A		No	ClinGen ExAC TOPMed gnomAD
rs758503610 CA3234999	260	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1370892271 CA359452037	261	S>A		No	ClinGen gnomAD
rs749286998 CA3234998	261	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	261	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3234996 rs1029027038	262	I>V		No	ClinGen TOPMed
rs765166715 CA3234994	265	T>I		No	ClinGen ExAC gnomAD
CA359451956 rs1397503022	266	S>Y		No	ClinGen gnomAD
TCGA novel	267	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359451940 rs1460306623	268	I>T		No	ClinGen gnomAD
TCGA novel	269	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292124805 CA359451916	270	S>P		No	ClinGen TOPMed gnomAD
rs16902872 CA3234992	271	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3234991 VAR_037559 rs16902872	271	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3234990 rs760520055	273	A>V		No	ClinGen ExAC gnomAD
CA3234989 rs772832582	274	F>L		No	ClinGen ExAC gnomAD
CA3234988 rs767229854	274	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	278	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359451823 rs1579680528	279	S>P		No	ClinGen Ensembl
rs773924279 CA3234986	280	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1437226 CA3234985 rs375831153	280	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs777092323 CA3234982	282	C>W		No	ClinGen ExAC gnomAD
rs760103930 CA3234983	282	C>Y		No	ClinGen ExAC gnomAD
CA117010702 rs904536484	287	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3234980 rs747426433	288	D>E		No	ClinGen ExAC TOPMed gnomAD
rs542748729 CA3234981	288	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1561098240 CA359451715	289	V>I		No	ClinGen Ensembl
CA359451703 rs1346127800	290	I>L		No	ClinGen TOPMed
rs777963813 CA3234979	290	I>T		No	ClinGen ExAC gnomAD
rs542961290 CA359451641	295	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542961290 CA3234977	295	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754918885 CA359451618	297	H>L		No	ClinGen ExAC TOPMed gnomAD
CA3234975 rs754918885	297	H>R		No	ClinGen ExAC TOPMed gnomAD
rs748263110 CA3234976	297	H>Y		No	ClinGen ExAC gnomAD
rs755075624 CA3234974	300	L>I		No	ClinGen ExAC
CA359451563 rs1373576153	301	K>N		No	ClinGen gnomAD
TCGA novel	301	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1159447952 CA359451254	302	I>M		No	ClinGen TOPMed
rs1389507679 CA359451220	305	K>E		No	ClinGen TOPMed
rs1373033846 CA359451204	306	L>R		No	ClinGen gnomAD
rs1187183644 CA359451180	308	I>L		No	ClinGen TOPMed gnomAD
rs1187183644 CA359451181	308	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	312	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359451073 rs1350810403	313	T>R		No	ClinGen TOPMed
CA117010577 rs997829127	314	Q>*		No	ClinGen TOPMed
CA3234939 rs139003586	317	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1213129318 CA359451004	318	E>Q		No	ClinGen gnomAD
CA359450969 rs749462134	320	G>C		No	ClinGen ExAC gnomAD
CA3234938 rs749462134	320	G>S		No	ClinGen ExAC gnomAD
CA3234937 rs145127212	323	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA359450919 rs145127212	323	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	324	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147755255 CA3234934	325	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1295085815 CA359450857	327	N>S		No	ClinGen gnomAD
CA359450843 rs1236464429	328	D>G		No	ClinGen gnomAD
rs757172110 CA3234933	329	T>I		No	ClinGen ExAC TOPMed gnomAD
rs757172110 CA359450818	329	T>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	331	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1291822622 CA359450794	331	S>N		No	ClinGen TOPMed
CA117010576 rs893627737	332	T>I		No	ClinGen TOPMed gnomAD
COSM482764 rs746839639 CA3234932	333	D>Y	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs146583992 CA3234930	334	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1410912410 CA359450733	335	G>R		No	ClinGen gnomAD
CA359450716 rs1396281957	336	T>I		No	ClinGen gnomAD
CA3234912 rs142846323	342	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA359450578 rs1485850751	343	M>T		No	ClinGen gnomAD
CA3234910 rs577932970	344	R>C		No	ClinGen ExAC TOPMed gnomAD
rs148931743 CA117010428	344	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs753288741 CA3234909	345	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1284417476 CA359450559	346	Q>P		No	ClinGen gnomAD
rs1222702853 CA359450551	347	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1294693751 CA359450545	348	S>N		No	ClinGen gnomAD
CA117010427 rs916881538	352	I>T		No	ClinGen TOPMed
CA3234906 rs752106917	353	L>F		No	ClinGen ExAC gnomAD
rs149771572 CA3234905	354	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1200282143 CA359450501	355	S>N		No	ClinGen TOPMed
CA3234904 rs763388998	356	K>*		No	ClinGen ExAC gnomAD
rs370111272 CA3234903	357	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA359450488 rs1579671337	357	L>V		No	ClinGen Ensembl
rs202164664 CA117010426	358	W>C		No	ClinGen 1000Genomes gnomAD
rs765410973 CA3234902	361	M>T		No	ClinGen ExAC gnomAD
rs759738550 CA3234901	364	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA117010425 rs776589950	365	R>K		No	ClinGen ExAC TOPMed gnomAD
CA3234900 rs776589950	365	R>T		No	ClinGen ExAC TOPMed gnomAD
rs771032968 CA3234899	366	A>E		No	ClinGen ExAC TOPMed gnomAD
rs936198212 CA117010424	371	V>I		No	ClinGen Ensembl
rs375516541 CA3234898	372	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773106667 CA3234897	372	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1463130586 CA359450375	373	I>T		No	ClinGen gnomAD
rs1579671048 CA359450363	375	A>G		No	ClinGen Ensembl
rs1274471270 CA359450359	376	T>A		No	ClinGen gnomAD
rs771943952 CA3234896	378	L>S		No	ClinGen ExAC gnomAD
rs747964100 CA3234895	379	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778700442 CA3234894	380	D>G		No	ClinGen ExAC gnomAD
rs1364710289 CA359450321	381	Y>*		No	ClinGen TOPMed gnomAD
rs1226891186 CA359450323	381	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA359450300 rs1386599206	384	K>R		No	ClinGen gnomAD
TCGA novel	386	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779496425 CA3234891	389	Q>K		No	ClinGen ExAC gnomAD
rs1354943113 CA359449925	390	A>S		No	ClinGen gnomAD
rs1167712618 CA359449922	390	A>V		No	ClinGen gnomAD
CA359449917 rs1447650220	391	S>T		No	ClinGen TOPMed gnomAD
rs1193723531 CA359449902	393	Q>H		No	ClinGen gnomAD
rs779733522 CA3234873	393	Q>K		No	ClinGen ExAC gnomAD
rs1453212240 CA359449899	394	D>H		No	ClinGen gnomAD
TCGA novel	394	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359449887 rs1264870972	395	T>I		No	ClinGen gnomAD
CA359449866 rs1252318815	398	L>F		No	ClinGen gnomAD
rs141789924 CA3234871	399	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780784115 CA3234870	402	I>V		No	ClinGen ExAC gnomAD
CA3234869 rs758989266	403	H>Q		No	ClinGen ExAC gnomAD
CA3234868 rs748678869	405	R>C		No	ClinGen ExAC TOPMed gnomAD
CA359449824 rs748678869	405	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3234867 rs779215618	405	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1393415752 CA359449805	408	A>V		No	ClinGen gnomAD
CA3234866 rs755343699	409	L>R		No	ClinGen ExAC gnomAD
TCGA novel	411	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359449773 rs1190650174	413	N>D		No	ClinGen gnomAD
rs1009682485 CA117010159	413	N>S		No	ClinGen TOPMed
rs754060353 CA3234865	414	K>E		No	ClinGen ExAC gnomAD
rs140641940 CA3234864	414	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359449739 rs750513007	417	D>E		No	ClinGen ExAC gnomAD
rs1400241511 CA359449738	418	V>I		No	ClinGen TOPMed
CA117010154 rs750097213	419	N>K		No	ClinGen Ensembl
rs767569976 CA3234861	423	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1216831923 CA359449690	425	S>P		No	ClinGen Ensembl
CA3234860 rs761721546	428	A>V		No	ClinGen ExAC gnomAD
CA359449664 rs1339972933	429	Q>*		No	ClinGen Ensembl
rs147215462 CA3234859	430	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1260009430 CA359449646	431	L>F		No	ClinGen gnomAD
rs756606263 CA3234856	433	C>S		No	ClinGen ExAC gnomAD
rs769576272 CA3234855	433	C>W		No	ClinGen ExAC TOPMed gnomAD
CA3234854 rs745462557	434	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA359449630 rs745462557	434	E>Q		No	ClinGen ExAC gnomAD
rs748647142 CA3234851	438	E>D		No	ClinGen ExAC gnomAD
rs770563642 CA3234852	438	E>K		No	ClinGen ExAC gnomAD
rs1050619263 CA117010136	439	N>S		No	ClinGen Ensembl
rs1357181581 CA359449564	442	D>E		No	ClinGen gnomAD
rs779457084 CA3234850	442	D>H		No	ClinGen ExAC gnomAD
rs779457084 CA359449570	442	D>N		No	ClinGen ExAC gnomAD
CA359449553 rs1215084252	444	I>F		No	ClinGen TOPMed
CA3234849 rs755395918	445	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3234848 rs145254521	446	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3234847 rs145254521	446	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA359449541 rs1395446288	446	V>I		No	ClinGen gnomAD
CA359449520 rs1159799613	449	N>T		No	ClinGen gnomAD
rs904382272 CA117010129	450	G>E		No	ClinGen Ensembl
rs749741922 CA3234830	454	S>C		No	ClinGen ExAC
rs1472643881 CA359449452	457	T>I		No	ClinGen gnomAD
rs754638549	459	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1334675314 CA359449434	460	Q>*		No	ClinGen Ensembl
rs770112171 CA3234826	461	S>L		No	ClinGen ExAC gnomAD
CA359449427 rs1561088775	461	S>P		No	ClinGen Ensembl
CA359449419 rs1209255129	462	V>A		No	ClinGen TOPMed
CA359449415 rs1247556969	463	A>S		No	ClinGen gnomAD
CA3234824 rs781414705	463	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1470000287 CA359449401	465	S>*		No	ClinGen gnomAD
TCGA novel	465	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q86VV4

1 regional properties for Q86VV4

Type	Name	Position	InterPro Accession
domain	Ran binding domain	280 - 406	IPR000156

Functions

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

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nuclear pore	A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined.

1 GO annotations of molecular function

Name	Definition
SMAD binding	Binding to a SMAD signaling protein.

5 GO annotations of biological process

Name	Definition
mesenchymal cell differentiation involved in bone development	The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesenchymal cells of bone as it progresses from its formation to the mature state.
negative regulation of osteoblast differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation.
positive regulation of myoblast differentiation	Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
protein export from nucleus	The directed movement of a protein from the nucleus into the cytoplasm.
regulation of catalytic activity	Any process that modulates the activity of an enzyme.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43487	RANBP1	Ran-specific GTPase-activating protein	Homo sapiens (Human)	PR
Q9LMK7	RANBP1A	Ran-binding protein 1 homolog a	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8RWG8	RANBP1B	Ran-binding protein 1 homolog b	Arabidopsis thaliana (Mouse-ear cress)	PR
P92985	POX1	Ran-binding protein 1 homolog c	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MTTIPRKGSS	HLPGSLHTCK	LKLQEDRRQQ	EKSVIAQPIF	VFEKGEQTFK	RPAEDTLYEA
70	80	90	100	110	120
AEPECNGFPT	KRVRSSSFTF	HITDSQSQGV	RKNNVFMTSA	LVQSSVDIKS	AEQGPVKHSK
130	140	150	160	170	180
HVIRPAILQL	PQARSCAKVR	KTFGHKALES	CKTKEKTNNK	ISEGNSYLLS	ENLSRARISV
190	200	210	220	230	240
QLSTNQDFLG	ATSVGCQPNE	DKCSFKSCSS	NFVFGENMVE	RVLGTQKLTQ	PQLENDSYAK
250	260	270	280	290	300
EKPFKSIPKF	PVNFLSSRTD	SIKNTSLIES	AAAFSSQPSR	KCLLEKIDVI	TGEETEHNVL
310	320	330	340	350	360
KINCKLFIFN	KTTQSWIERG	RGTLRLNDTA	STDCGTLQSR	LIMRNQGSLR	LILNSKLWAQ
370	380	390	400	410	420
MKIQRANHKN	VRITATDLED	YSIKIFLIQA	SAQDTAYLYA	AIHHRLVALQ	SFNKQRDVNQ
430	440	450	460
AESLSETAQQ	LNCESCDENE	DDFIQVTKNG	SDPSSWTHRQ	SVACS