RAB3GAP1 - RAB3 GTPase activating protein catalytic subunit 1 Gene

Also Known as P130; MARTS2; WARBM1; RAB3GAP; RAB3GAP130

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22930

About RAB3GAP1

Cytogenetic location: 2q21.3 Genomic coordinates (GRCh38): 2:135,052,292-135,176,396 (from NCBI)

This gene has 25 transcripts (splice variants), 207 orthologues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 16.8), thyroid (RPKM 15.9) and 25 other tissues.

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 mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

RAB3GAP1 Products (2)

mRNA	Protein	Name
NM_001172435.2	NP_001165906.1	rab3 GTPase-activating protein catalytic subunit isoform 1
NM_012233.3	NP_036365.1	rab3 GTPase-activating protein catalytic subunit isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	9030515	GOA
enables GTPase activator activity	IMP IMP: Inferred from mutant phenotype	24891604	GOA
contributes to guanyl-nucleotide exchange factor activity	IMP IMP: Inferred from mutant phenotype	24891604	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22337587	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	10859313	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in brain development	IMP IMP: Inferred from mutant phenotype	20512159	GOA
involved in camera-type eye development	IMP IMP: Inferred from mutant phenotype	20512159	GOA
involved in establishment of protein localization to endoplasmic reticulum membrane	IMP IMP: Inferred from mutant phenotype	24891604	GOA
involved in face morphogenesis	IMP IMP: Inferred from mutant phenotype	20512159	GOA
involved in hypothalamus development	IMP IMP: Inferred from mutant phenotype	20512159	GOA
acts upstream of or within lipid droplet organization	IMP IMP: Inferred from mutant phenotype	24239381	GOA
involved in positive regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	24891604	GOA
involved in positive regulation of autophagosome assembly	IMP IMP: Inferred from mutant phenotype	25495476	GOA
involved in positive regulation of endoplasmic reticulum tubular network organization	IMP IMP: Inferred from mutant phenotype	24891604	GOA
involved in positive regulation of protein lipidation	IMP IMP: Inferred from mutant phenotype	25495476	GOA
involved in regulation of GTPase activity	IDA IDA: Inferred from direct assay	10859313	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	25495476	GOA
located in endoplasmic reticulum tubular network	IDA IDA: Inferred from direct assay	24891604	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	25495476	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	24891604	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RAB3GAP1 Protein Structure

Rab3-GTPase_cat

0
200
400
600
800
981 a.a.

Protein Preferred Names	Protein Names
rab3 GTPase-activating protein catalytic subunit	RAB3 GTPase activating protein subunit 1 (catalytic)

Related Diseases

Diseases	Alias
Warburg Micro Syndrome 1	Warburg Micro Syndrome Micro Syndrome Warbm WARBM1 Warburg Sjo Fledelius Syndrome Warburg-Sjo-Fledelius Syndrome Micro Syndrome 1 Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Martsolf Syndrome 2	MARTS2
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Martsolf Syndrome 1	Martsolf Syndrome Cataract-Intellectual Disability-Hypogonadism Syndrome MARTS1 Marts Cataract-Mental Retardation-Hypogonadism Martsolf
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Hypertrichosis
Movement Disease	Movement Disorders Movement Disorder
Spasticity
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Spastic Diplegia	Diplegic Infantile Cerebral Palsy Little'S Disease Cerebral Palsy Cerebral Spastic Infantile Paralysis Infantile Diplegic Cerebral Palsy Infantile Spastic Cerebral Palsy Littles Disease Spastic Cerebral Palsy
Rab18 Deficiency
Warburg Micro Syndrome 2	WARBM2 Micro Syndrome 2
Warburg Micro Syndrome 4	WARBM4 Micro Syndrome 4
Warburg Micro Syndrome 3	WARBM3 Micro Syndrome 3
Irregular Astigmatism
Megaesophagus	Esophageal Achalasia
Spastic Cerebral Palsy	Palsy, Cerebral, Spastic Infantile Hemiplegia Nos Postnatal Infantile Hemiplegia Nos Congenital Spastic Hemiplegia Spastic Hemiplegic Cerebral Palsy Congenital Hemiplegia Nos Hemiplegic Cerebral Palsy Hemiplegic Infantile Cerebral Palsy
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Corneal Ectasia
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Corneal Dystrophy, Posterior Polymorphous, 1	Posterior Polymorphous Corneal Dystrophy Ppcd Maumenee Corneal Dystrophy Posterior Polymorphous Corneal Dystrophy 1 PPCD1 Corneal Dystrophy, Hereditary Polymorphous Posterior Corneal Endothelial Dystrophy 1, Autosomal Dominant Schlichting Dystrophy Ched1 Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly Ched1, Formerly Hereditary Polymorphus Posterior Corneal Dystrophy Posterior Polymorphous Dystrophy Hereditary Polymorphous Posterior Corneal Dystrophy Dystrophy, Corneal, Posterior Polymorphous Dystrophy, Corneal, Posterior Polymorphous, Type 1 Polymorphous Corneal Dystrophy Corneal Endothelial Dystrophy 2
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Lens Disease	Lens Diseases
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Polymicrogyria	Pmg
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability
Fuchs' Endothelial Dystrophy	Fuchs Endothelial Corneal Dystrophy Fuchs Endothelial Dystrophy Fuchs Dystrophy Fced Fuchs' Corneal Dystrophy Fuchs' Endothelial Corneal Dystrophy Fuchs Atrophy Fuchs Corneal Dystrophy Endoepithelial Corneal Dystrophy Fecd Late Hereditary Endothelial Dystrophy Corneal Dystrophy, Fuchs Endothelial Dystrophy, Corneal, Fuchs Endothelial Corneal Dystrophy, Fuchs' Endothelial, 1
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11559	RAB3GAP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RAB3GAP1	VGNC	VGNC:45286
Macaca mulatta	RAB3GAP1	VGNC	VGNC:76498
Bos taurus	RAB3GAP1	VGNC	VGNC:33653
Felis catus	RAB3GAP1	VGNC	VGNC:107611
Rattus norvegicus	RAB3GAP1	RGD	RGD:1306487
Mus musculus	RAB3GAP1	MGD	MGI:2445001
Others	RAB3GAP1	NCBI