Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22930
Gene name	RAB3 GTPase activating protein catalytic subunit 1
Gene symbol	RAB3GAP1
Synonyms (NCBI Gene)	MARTS2P130RAB3GAPRAB3GAP130WARBM1
Chromosome	2
Chromosome location	2q21.3
Summary	This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein media

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137853052	C>G,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs145829300	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs267606996	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs532964185	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs577915245	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs587776651	G>A	Pathogenic	Splice donor variant
rs587777152	G>A	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs587777153	->GCTCTCAGATATGGAGTCT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587777154	A>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777155	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs730882183	A>G	Pathogenic	Splice acceptor variant
rs730882184	AAAGGAT>TTATTA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs752667359	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs764260054	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766629205	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs772842361	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs794727324	ACCTT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886043201	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886043202	ACTG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064794536	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1231893162	->C	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1282248700	GT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1553437083	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553444644	->T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553444935	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1558782178	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558792168	A>G	Pathogenic	Splice acceptor variant
rs1558792256	C>G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558805900	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1573578824	GTCACTG>TTA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030289	hsa-miR-26b-5p	Microarray	19088304
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT447652	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT447651	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT447650	hsa-miR-5582-5p	PAR-CLIP	22100165
MIRT447649	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT447648	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT447647	hsa-miR-2116-5p	PAR-CLIP	22100165
MIRT447646	hsa-miR-22-5p	PAR-CLIP	22100165
MIRT447645	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447643	hsa-miR-3672	PAR-CLIP	22100165
MIRT447644	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT447642	hsa-miR-4677-5p	PAR-CLIP	22100165
MIRT447652	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT447651	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT447650	hsa-miR-5582-5p	PAR-CLIP	22100165
MIRT447649	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT447648	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT447647	hsa-miR-2116-5p	PAR-CLIP	22100165
MIRT447646	hsa-miR-22-5p	PAR-CLIP	22100165
MIRT447645	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447643	hsa-miR-3672	PAR-CLIP	22100165
MIRT447644	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT447642	hsa-miR-4677-5p	PAR-CLIP	22100165
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT447652	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT447651	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT447650	hsa-miR-5582-5p	PAR-CLIP	22100165
MIRT447649	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT447648	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT447647	hsa-miR-2116-5p	PAR-CLIP	22100165
MIRT447646	hsa-miR-22-5p	PAR-CLIP	22100165
MIRT447645	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447643	hsa-miR-3672	PAR-CLIP	22100165
MIRT447644	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT447642	hsa-miR-4677-5p	PAR-CLIP	22100165
MIRT447652	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT447651	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT447650	hsa-miR-5582-5p	PAR-CLIP	22100165
MIRT447649	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT447648	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT447647	hsa-miR-2116-5p	PAR-CLIP	22100165
MIRT447646	hsa-miR-22-5p	PAR-CLIP	22100165
MIRT447645	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447643	hsa-miR-3672	PAR-CLIP	22100165
MIRT447644	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT447642	hsa-miR-4677-5p	PAR-CLIP	22100165
MIRT1284403	hsa-miR-155	CLIP-seq
MIRT1284404	hsa-miR-2964a-5p	CLIP-seq
MIRT1284405	hsa-miR-3127-5p	CLIP-seq
MIRT1284406	hsa-miR-3146	CLIP-seq
MIRT1284407	hsa-miR-3192	CLIP-seq
MIRT1284408	hsa-miR-3199	CLIP-seq
MIRT1284409	hsa-miR-3918	CLIP-seq
MIRT1284410	hsa-miR-4314	CLIP-seq
MIRT1284411	hsa-miR-4646-5p	CLIP-seq
MIRT1284412	hsa-miR-4786-3p	CLIP-seq
MIRT1284413	hsa-miR-4793-5p	CLIP-seq
MIRT1284414	hsa-miR-548ac	CLIP-seq
MIRT1284415	hsa-miR-548ae	CLIP-seq
MIRT1284416	hsa-miR-548aj	CLIP-seq
MIRT1284417	hsa-miR-548am	CLIP-seq
MIRT1284418	hsa-miR-548d-3p	CLIP-seq
MIRT1284419	hsa-miR-548x	CLIP-seq
MIRT1284420	hsa-miR-548z	CLIP-seq
MIRT1284421	hsa-miR-1263	CLIP-seq
MIRT1284422	hsa-miR-1470	CLIP-seq
MIRT1284423	hsa-miR-154	CLIP-seq
MIRT1284424	hsa-miR-2467-3p	CLIP-seq
MIRT1284425	hsa-miR-3123	CLIP-seq
MIRT1284405	hsa-miR-3127-5p	CLIP-seq
MIRT1284426	hsa-miR-361-5p	CLIP-seq
MIRT1284427	hsa-miR-3617	CLIP-seq
MIRT1284428	hsa-miR-3657	CLIP-seq
MIRT1284429	hsa-miR-3664-3p	CLIP-seq
MIRT1284430	hsa-miR-374c	CLIP-seq
MIRT1284409	hsa-miR-3918	CLIP-seq
MIRT1284431	hsa-miR-4287	CLIP-seq
MIRT1284432	hsa-miR-4292	CLIP-seq
MIRT1284433	hsa-miR-4308	CLIP-seq
MIRT1284434	hsa-miR-4469	CLIP-seq
MIRT1284435	hsa-miR-4667-3p	CLIP-seq
MIRT1284436	hsa-miR-4669	CLIP-seq
MIRT1284437	hsa-miR-4685-3p	CLIP-seq
MIRT1284438	hsa-miR-4724-3p	CLIP-seq
MIRT1284439	hsa-miR-485-5p	CLIP-seq
MIRT1284440	hsa-miR-548c-3p	CLIP-seq
MIRT1284441	hsa-miR-582-5p	CLIP-seq
MIRT1284442	hsa-miR-592	CLIP-seq
MIRT1284443	hsa-miR-599	CLIP-seq
MIRT1284444	hsa-miR-641	CLIP-seq
MIRT1284445	hsa-miR-642a	CLIP-seq
MIRT1284446	hsa-miR-655	CLIP-seq
MIRT1921706	hsa-miR-520d-5p	CLIP-seq
MIRT1921707	hsa-miR-524-5p	CLIP-seq
MIRT1284425	hsa-miR-3123	CLIP-seq
MIRT1284439	hsa-miR-485-5p	CLIP-seq
MIRT2084465	hsa-miR-507	CLIP-seq
MIRT2084466	hsa-miR-557	CLIP-seq
MIRT2309566	hsa-miR-101	CLIP-seq
MIRT2309567	hsa-miR-144	CLIP-seq
MIRT2309568	hsa-miR-1912	CLIP-seq
MIRT2309569	hsa-miR-3130-5p	CLIP-seq
MIRT1284426	hsa-miR-361-5p	CLIP-seq
MIRT2309570	hsa-miR-3619-3p	CLIP-seq
MIRT2309571	hsa-miR-377	CLIP-seq
MIRT2309572	hsa-miR-448	CLIP-seq
MIRT2309573	hsa-miR-4482	CLIP-seq
MIRT2309574	hsa-miR-4520a-5p	CLIP-seq
MIRT2309575	hsa-miR-4520b-5p	CLIP-seq
MIRT2309576	hsa-miR-4776-5p	CLIP-seq
MIRT2309577	hsa-miR-4800-5p	CLIP-seq
MIRT2309578	hsa-miR-656	CLIP-seq
MIRT2393350	hsa-miR-450b-5p	CLIP-seq
MIRT2084465	hsa-miR-507	CLIP-seq
MIRT2084466	hsa-miR-557	CLIP-seq
MIRT2432409	hsa-miR-3200-5p	CLIP-seq
MIRT2432410	hsa-miR-4424	CLIP-seq
MIRT2393350	hsa-miR-450b-5p	CLIP-seq
MIRT2432411	hsa-miR-4666-5p	CLIP-seq
MIRT2432412	hsa-miR-4682	CLIP-seq
MIRT2084465	hsa-miR-507	CLIP-seq
MIRT2084466	hsa-miR-557	CLIP-seq
MIRT1284441	hsa-miR-582-5p	CLIP-seq
MIRT2432413	hsa-miR-935	CLIP-seq
MIRT2457626	hsa-miR-1290	CLIP-seq
MIRT2457627	hsa-miR-3167	CLIP-seq
MIRT2457628	hsa-miR-876-5p	CLIP-seq
MIRT1284423	hsa-miR-154	CLIP-seq
MIRT1284404	hsa-miR-2964a-5p	CLIP-seq
MIRT2606320	hsa-miR-3129-3p	CLIP-seq
MIRT2606321	hsa-miR-3152-3p	CLIP-seq
MIRT2606322	hsa-miR-342-3p	CLIP-seq
MIRT1284426	hsa-miR-361-5p	CLIP-seq
MIRT1284427	hsa-miR-3617	CLIP-seq
MIRT2606323	hsa-miR-3670	CLIP-seq
MIRT1284430	hsa-miR-374c	CLIP-seq
MIRT2606324	hsa-miR-3921	CLIP-seq
MIRT2606325	hsa-miR-4311	CLIP-seq
MIRT2606326	hsa-miR-4489	CLIP-seq
MIRT2606327	hsa-miR-4643	CLIP-seq
MIRT2606328	hsa-miR-4653-5p	CLIP-seq
MIRT2606329	hsa-miR-466	CLIP-seq
MIRT2432411	hsa-miR-4666-5p	CLIP-seq
MIRT2606330	hsa-miR-4731-3p	CLIP-seq
MIRT2606331	hsa-miR-4738-3p	CLIP-seq
MIRT1284412	hsa-miR-4786-3p	CLIP-seq
MIRT1284413	hsa-miR-4793-5p	CLIP-seq
MIRT2606332	hsa-miR-4801	CLIP-seq
MIRT2606333	hsa-miR-500a	CLIP-seq
MIRT2606334	hsa-miR-526b	CLIP-seq
MIRT2606335	hsa-miR-548p	CLIP-seq
MIRT1284441	hsa-miR-582-5p	CLIP-seq
MIRT2606336	hsa-miR-586	CLIP-seq
MIRT2606337	hsa-miR-593	CLIP-seq
MIRT2606338	hsa-miR-602	CLIP-seq
MIRT1284444	hsa-miR-641	CLIP-seq
MIRT2606339	hsa-miR-648	CLIP-seq
MIRT1284446	hsa-miR-655	CLIP-seq
MIRT2606340	hsa-miR-888	CLIP-seq
MIRT2432413	hsa-miR-935	CLIP-seq
MIRT1284404	hsa-miR-2964a-5p	CLIP-seq
MIRT2606320	hsa-miR-3129-3p	CLIP-seq
MIRT2606321	hsa-miR-3152-3p	CLIP-seq
MIRT2606322	hsa-miR-342-3p	CLIP-seq
MIRT1284426	hsa-miR-361-5p	CLIP-seq
MIRT1284427	hsa-miR-3617	CLIP-seq
MIRT2606323	hsa-miR-3670	CLIP-seq
MIRT2606324	hsa-miR-3921	CLIP-seq
MIRT2606326	hsa-miR-4489	CLIP-seq
MIRT2606327	hsa-miR-4643	CLIP-seq
MIRT2606328	hsa-miR-4653-5p	CLIP-seq
MIRT2606329	hsa-miR-466	CLIP-seq
MIRT2689253	hsa-miR-4686	CLIP-seq
MIRT2606330	hsa-miR-4731-3p	CLIP-seq
MIRT2606331	hsa-miR-4738-3p	CLIP-seq
MIRT1284412	hsa-miR-4786-3p	CLIP-seq
MIRT1284413	hsa-miR-4793-5p	CLIP-seq
MIRT2606332	hsa-miR-4801	CLIP-seq
MIRT1284439	hsa-miR-485-5p	CLIP-seq
MIRT2606333	hsa-miR-500a	CLIP-seq
MIRT2606334	hsa-miR-526b	CLIP-seq
MIRT2606335	hsa-miR-548p	CLIP-seq
MIRT2606336	hsa-miR-586	CLIP-seq
MIRT2606337	hsa-miR-593	CLIP-seq
MIRT2606338	hsa-miR-602	CLIP-seq
MIRT1284444	hsa-miR-641	CLIP-seq
MIRT2606339	hsa-miR-648	CLIP-seq
MIRT2606340	hsa-miR-888	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	26063829
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	24891604
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	9030515, 10859313, 16923123
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	IMP	24891604
GO:0005515	Function	Protein binding	IPI	22337587
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA	25495476
GO:0005794	Component	Golgi apparatus	IEA
GO:0005801	Component	Cis-Golgi network	IDA	26063829
GO:0005811	Component	Lipid droplet	IDA	25495476
GO:0005829	Component	Cytosol	TAS
GO:0007420	Process	Brain development	IBA
GO:0007420	Process	Brain development	IMP	20512159
GO:0021854	Process	Hypothalamus development	IMP	20512159
GO:0031267	Function	Small GTPase binding	IPI	10859313, 24891604
GO:0032482	Process	Rab protein signal transduction	ISS
GO:0032991	Component	Protein-containing complex	IDA	24891604
GO:0034389	Process	Lipid droplet organization	IMP	24239381
GO:0043010	Process	Camera-type eye development	IMP	20512159
GO:0043087	Process	Regulation of GTPase activity	IDA	10859313
GO:0043547	Process	Positive regulation of GTPase activity	IMP	24891604
GO:0048172	Process	Regulation of short-term neuronal synaptic plasticity	ISS
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0060325	Process	Face morphogenesis	IMP	20512159
GO:0061646	Process	Positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071782	Component	Endoplasmic reticulum tubular network	IDA	24891604
GO:0097051	Process	Establishment of protein localization to endoplasmic reticulum membrane	IMP	24891604
GO:0098794	Component	Postsynapse	IEA
GO:1903061	Process	Positive regulation of protein lipidation	IMP	25495476
GO:1903233	Process	Regulation of calcium ion-dependent exocytosis of neurotransmitter	ISS
GO:1903373	Process	Positive regulation of endoplasmic reticulum tubular network organization	IMP	24891604
GO:2000786	Process	Positive regulation of autophagosome assembly	IBA
GO:2000786	Process	Positive regulation of autophagosome assembly	IMP	25495476

MIM	HGNC	e!Ensembl
602536	17063	ENSG00000115839

Q15042

Protein name

Rab3 GTPase-activating protein catalytic subunit (RAB3 GTPase-activating protein 130 kDa subunit) (Rab3-GAP p130) (Rab3-GAP)

Protein function

Catalytic subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and

PDB

8VYB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13890	Rab3-GTPase_cat	612 → 769	Rab3 GTPase-activating protein catalytic subunit	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9030515}.

Sequence

MAADSEPESEVFEITDFTTASEWERFISKVEEVLNDWKLIGNSLGKPLEKGIFTSGTWEE
KSDEISFADFKFSVTHHYLVQESTDKEGKDELLEDVVPQSMQDLLGMNNDFPPRAHCLVR
WYGLREFVVIAPAAHSDAVLSESKCNLLLSSVSIALGNTGCQVPLFVQIHHKWRRMYVGE
CQGPGVRTDFEMVHLRKVPNQYTHLSGLLDIFKSKIGCPLTPLPPVSIAIRFTYVLQDWQ
QYFWPQQPPDIDALVGGEVGGLEFGKLPFGACEDPISELHLATTWPHLTEGIIVDNDVYS
DLDPIQAPHWSVRVRKAENPQCLLGDFVTEFFKICRRKESTDEILGRSAFEEEGKETADI
THALSKLTEPASVPIHKLSVSNMVHTAKKKIRKHRGVEESPLNNDVLNTILLFLFPDAVS
EKPLDGTTSTDNNNPPSESEDYNLYNQFKSAPSDSLTYKLALCLCMINFYHGGLKGVAHL
WQEFVLEMRFRWENNFLIPGLASGPPDLRCCLLHQKLQMLNCCIERKKARDEGKKTSASD
VTNIYPGDAGKAGDQLVPDNLKETDKEKGEVGKSWDSWSDSEEEFFECLSDTEELKGNGQ
ESGKKGGPKEMANLRPEGRLYQHGKLTLLHNGEPLYIPVTQEPAPMTEDLLEEQSEVLAK
LGTSAEGAHLRARMQSACLLSDMESFKAANPGCSLEDFVRWYSPRDYIEEEVIDEKGNVV
LKGELSARMKIPSNMWVEAWETAKPIPARRQRRLFDDTREAEKVLHYLAIQKPADLARHL
LPCVIHAAVLKVKEEESLENISSVKKIIKQIISHSSKVLHFPNPEDKKLEEIIHQITNVE
ALIARARSLKAKFGTEKCEQEEEKEDLERFVSCLLEQPEVLVTGAGRGHAGRIIHKLFVN
AQRAAAMTPPEEELKRMGSPEERRQNSVSDFPPPAGREFILRTTVPRPAPYSKALPQRMY
SVLTKEDFRLAGAFSSDTSFF

Sequence length

981

Interactions

View interactions

	Reactome
			COPI-independent Golgi-to-ER retrograde traffic RAB GEFs exchange GTP for GDP on RABs

212

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Martsolf syndrome	Pathogenic	rs1553437083	RCV000656358
Martsolf syndrome 2	Pathogenic	rs2105001159, rs2104916488, rs2468283673, rs1553437083, rs532964185	RCV001532876 RCV005397356 RCV004577425 RCV001532875 RCV002507142
RAB3GAP1-related disorder	Likely pathogenic; Pathogenic	rs1224313284, rs2468214371, rs1064794536, rs752667359, rs749616608	RCV003388364 RCV004528716 RCV004527590 RCV003155253 RCV005057614
Warburg micro syndrome	Likely pathogenic	rs2104879312	RCV001559329
Warburg micro syndrome 1	Pathogenic; Likely pathogenic	rs1691647986, rs587777152, rs587777153, rs587777154, rs587777155, rs2104983369, rs2104943498, rs2104916488, rs766629205, rs797045905, rs757393692, rs730882182, rs730882183, rs587776651, rs137853052 View all (21 more)	RCV001352678 RCV000087133 RCV000087134 RCV000087135 RCV000087136 RCV001532877 RCV001823456 RCV005397356 RCV000985082 RCV000194301 RCV003403955 RCV000007472 RCV000007473 RCV000007474 RCV000007475 RCV000007476 RCV000007477 RCV000007478 RCV002790031 RCV003152814 RCV003152847 RCV003485936 RCV003334446 RCV003388707 RCV003397204 RCV003984998 RCV000500968 RCV000625952 RCV000656360 RCV000680080 RCV000679853 RCV000761455 RCV000761456 RCV000790401 RCV000985081 RCV000984501

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs6729072	RCV005914562
Amenorrhea	Uncertain significance; Benign; Likely benign	rs756956146, rs150478342	RCV001849741 RCV001849339
Cervical cancer	Benign	rs76927619	RCV005889241
Clear cell carcinoma of kidney	Benign	rs76927619	RCV005889242
Colon adenocarcinoma	Benign	rs76927619	RCV005889240
Familial cancer of breast	Benign	rs6729072	RCV005914561
Gastric cancer	Benign	rs6729072	RCV005914565
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs6729072, rs114901298, rs76927619	RCV005914566 RCV005889237 RCV005889244
Sarcoma	Benign	rs6729072, rs76927619	RCV005914564 RCV005889243
Thymoma	Benign; Likely benign	rs6729072, rs114901298, rs749330659	RCV005914567 RCV005889238 RCV005926231
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs114901298, rs76927619	RCV005889239 RCV005889245
Uveal melanoma	Benign	rs6729072	RCV005914563

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	34130600
Ataxia	Associate	34130600
Bone Diseases Metabolic	Associate	25332050
Brain Diseases	Associate	34130600
Breast Neoplasms	Associate	27512948
Carcinoma Papillary	Associate	36553631
Cardiomyopathies	Associate	27764520
Cataract	Associate	16532399, 36553631
Chediak Higashi Syndrome	Associate	34130600
Colorectal Neoplasms	Associate	32303675
Corneal Diseases	Associate	21979947
Deafness	Associate	28944914
Death Sudden Cardiac	Associate	23593153
Frontotemporal Dementia	Associate	34130600
Gaucher Disease	Associate	34130600
Gerstmann Straussler Scheinker Disease	Associate	34130600
Glaucoma	Associate	28575017
Glycogen Storage Disease	Associate	34130600
Huntington Disease	Associate	34130600
Hypertrichosis	Associate	33910511
Hypogonadism	Associate	16532399, 28944914
Intellectual Disability	Associate	16532399
Keratoconus	Associate	21979947, 28207827
Martsolf syndrome	Associate	16532399
Neurodegenerative Diseases	Associate	21473985
Neuronal Ceroid Lipofuscinoses	Associate	34130600
Niemann Pick Disease Type A	Associate	34130600
Parkinson Disease	Associate	34130600
Pathological Conditions Anatomical	Associate	16532399
Peripheral Nervous System Diseases	Associate	27764520
Skin Abnormalities	Associate	28944914
Thyroid Cancer Papillary	Associate	32065787
Tongue Fissured	Associate	33910511
Warburg Sjo Fledelius syndrome	Associate	16532399, 20512159, 21473985, 27764520, 33466118, 33910511, 36553631
Warburg Sjo Fledelius syndrome	Inhibit	25332050

RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1)