RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1)

Gene

• Entrez ID: 22930
• Gene name: RAB3 GTPase activating protein catalytic subunit 1
• Gene symbol: RAB3GAP1
• Synonyms (NCBI Gene): MARTS2, P130, RAB3GAP, RAB3GAP130, WARBM1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 602536
• HGNC: 17063
• e!Ensembl: ENSG00000115839

Protein

• UniProt ID: 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

Pathways

Reactome:

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Martsolf syndrome	Pathogenic	rs1553437083	RCV000656358	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Martsolf syndrome 2	Pathogenic	rs2105001159, rs2104916488, rs2468283673, rs1553437083, rs532964185	RCV001532876 RCV005397356 RCV004577425 RCV001532875 RCV002507142	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RAB3GAP1-related disorder	Likely pathogenic; Pathogenic	rs1224313284, rs2468214371, rs1064794536, rs752667359, rs749616608	RCV003388364 RCV004528716 RCV004527590 RCV003155253 RCV005057614	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Warburg micro syndrome	Likely pathogenic	rs2104879312	RCV001559329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Warburg micro syndrome 1	Pathogenic; Likely pathogenic	rs1691647986, rs587777152, rs587777153, rs587777154, rs587777155, rs2104983369, rs2104943498, rs2104916488, rs766629205, rs797045905, rs757393692, rs730882182, rs730882183, rs587776651, rs137853052, rs137853053, rs267606996, rs730882184, rs1558805679, rs779312077, rs2468221175, rs1573623087, rs2468278781, rs2468179387, rs2468218576, rs2468291953, rs1064794536, rs1553444644, rs532964185, rs1558782178, rs1558792256, rs1558792168, rs1558805900, rs1573585099, rs764260054, rs1573584395	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amenorrhea	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APERT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL MICROPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MALFORMATION SYNDROMES PREDOMINANTLY AFFECTING FACIAL APPEARANCE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOPHTHALMOS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTORCHIDISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLOCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOLDENHAR SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRICHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOBIUS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WARBURG SJO FLEDELIUS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27980054		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	25332050	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10621854, 11506494		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27512948	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10621854		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24045973		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	27764520		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	27764520	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	16532399, 36553631	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	24239381		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract-intellectual disability-hypogonadism syndrome	Cataract-intellectual disability-hypogonadism syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	14667936, 22710723, 23250421		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32303675	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal disease	Pubtator	21979947	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness	Deafness	Pubtator	28944914	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	23209189		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15696165, 20512159, 23176487, 23420520		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31830929		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31830929		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	28575017	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12727859, 9927060		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12727859, 9927060		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	Hypertrichosis	Pubtator	33910511	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	Pubtator	16532399, 28944914	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	28944914		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	16532399	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18413245		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	21979947, 23387289, 23833071, 25675348		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	21979947, 28207827	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19533683		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31830929		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24045973		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23531191, 23853093		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10621854, 12727859, 22333593, 22895052		★☆☆☆☆ Found in Text Mining only
Martsolf syndrome	Martsolf syndrome	Pubtator	16532399	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Martsolf syndrome	Martsolf Syndrome	BEFREE	18413245, 20967465		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Martsolf syndrome	Martsolf Syndrome	CLINVAR_DG	23420520		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Martsolf syndrome	Martsolf Syndrome	ORPHANET_DG	23420520		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	BEFREE	28192409		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18413245		★☆☆☆☆ Found in Text Mining only
Micro syndrome	Micro Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	30730599		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	15696165, 20512159, 23176487, 23420520		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30730599		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10621854, 18211953, 20406986, 22595804, 23531191, 23853093, 24045973, 27121059, 27966456, 9192669, 9766653		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23209189		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21473985	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	25332050		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	24045973		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	28677370		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	27764520		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	27764520	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	27764520		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23531191, 23853093		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	12454024, 12612064, 14508520, 15231644, 16061792, 16465443, 17006760, 17531812, 18211953, 20451864, 21875955, 23686316, 23853093, 24045973, 27750399, 27966456, 28289097, 28973440, 30166342, 30213853, 8084002, 8706005, 9556498		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31849731		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	17006760		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Abnormalities	Skin abnormalities	Pubtator	28944914	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	20406986, 9192669		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10621854		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32065787	Associate	★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg Micro Syndrome	BEFREE	15696165, 16532399, 18413245, 20512159, 20967465, 23124039, 23176487, 24239381, 25332050, 26421802, 27764520, 28677370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Warburg Sjo Fledelius syndrome	Warburg Micro Syndrome	GENOMICS_ENGLAND_DG	15696165, 20512159, 21473985, 26421802		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	16532399, 20512159, 21473985, 27764520, 33466118, 33910511, 36553631	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Warburg Sjo Fledelius syndrome	Warburg Micro Syndrome	ORPHANET_DG	23420520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	25332050	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Warburg Sjo Fledelius syndrome	Warburg Micro Syndrome	CLINVAR_DG	26421802		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Warburg Sjo Fledelius syndrome	Warburg Micro Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations