Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RAB3GAP1 Gene

Aliases for RAB3GAP1 Gene

  • RAB3 GTPase Activating Protein Subunit 1 (Catalytic) 2 3
  • RAB3 GTPase-Activating Protein 130 KDa Subunit 3 4
  • Rab3-GAP P130 3 4
  • RAB3GAP 3 4
  • RAB3GAP130 3
  • KIAA0066 4
  • Rab3-GAP 4
  • WARBM1 3
  • P130 3

External Ids for RAB3GAP1 Gene

Previous GeneCards Identifiers for RAB3GAP1 Gene

  • GC02P135645
  • GC02U900802
  • GC02P135526
  • GC02P135809
  • GC02P127801

Summaries for RAB3GAP1 Gene

Entrez Gene Summary for RAB3GAP1 Gene

  • 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]

GeneCards Summary for RAB3GAP1 Gene

RAB3GAP1 (RAB3 GTPase Activating Protein Subunit 1 (Catalytic)) is a Protein Coding gene. Diseases associated with RAB3GAP1 include warburg micro syndrome 1 and cataract - intellectual disability - hypogonadism. GO annotations related to this gene include GTPase activator activity and Rab guanyl-nucleotide exchange factor activity.

UniProtKB/Swiss-Prot for RAB3GAP1 Gene

  • Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.

Gene Wiki entry for RAB3GAP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB3GAP1 Gene

Genomics for RAB3GAP1 Gene

Regulatory Elements for RAB3GAP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RAB3GAP1 Gene

Chromosome:
2
Start:
135,052,265 bp from pter
End:
135,176,394 bp from pter
Size:
124,130 bases
Orientation:
Plus strand

Genomic View for RAB3GAP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAB3GAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB3GAP1 Gene

Proteins for RAB3GAP1 Gene

  • Protein details for RAB3GAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15042-RB3GP_HUMAN
    Recommended name:
    Rab3 GTPase-activating protein catalytic subunit
    Protein Accession:
    Q15042
    Secondary Accessions:
    • A6H8Z3
    • C9J837
    • Q659F5
    • Q8TBB4

    Protein attributes for RAB3GAP1 Gene

    Size:
    981 amino acids
    Molecular mass:
    110524 Da
    Quaternary structure:
    • The Rab3 GTPase-activating complex is a heterodimer composed of RAB3GAP and RAB3-GAP150. The Rab3 GTPase-activating complex interacts with DMXL2 (By similarity).
    SequenceCaution:
    • Sequence=BC071602; Type=Frameshift; Positions=211; Evidence={ECO:0000305}; Sequence=CAH56411.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for RAB3GAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB3GAP1 Gene

Proteomics data for RAB3GAP1 Gene at MOPED

Post-translational modifications for RAB3GAP1 Gene

  • Ubiquitination at Lys 38, Lys 46, Lys 50, Lys 197, Lys 316, Lys 338, Lys 896, and Lys 965
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB3GAP1 Gene

Antibody Products

No data available for DME Specific Peptides for RAB3GAP1 Gene

Domains & Families for RAB3GAP1 Gene

Protein Domains for RAB3GAP1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q15042

UniProtKB/Swiss-Prot:

RB3GP_HUMAN :
  • Belongs to the Rab3-GAP catalytic subunit family.
Family:
  • Belongs to the Rab3-GAP catalytic subunit family.
genes like me logo Genes that share domains with RAB3GAP1: view

No data available for Gene Families for RAB3GAP1 Gene

Function for RAB3GAP1 Gene

Molecular function for RAB3GAP1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=75 uM for GTP-loaded RAB3A {ECO:0000269 PubMed:10859313};
UniProtKB/Swiss-Prot Function:
Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.

Gene Ontology (GO) - Molecular Function for RAB3GAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IMP 24891604
GO:0017112 contributes_to Rab guanyl-nucleotide exchange factor activity IMP 24891604
GO:0017137 Rab GTPase binding IPI 10859313
genes like me logo Genes that share ontologies with RAB3GAP1: view

Phenotypes for RAB3GAP1 Gene

MGI mutant phenotypes for RAB3GAP1:
inferred from 1 alleles
GenomeRNAi human phenotypes for RAB3GAP1:
genes like me logo Genes that share phenotypes with RAB3GAP1: view

Animal Models for RAB3GAP1 Gene

MGI Knock Outs for RAB3GAP1:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAB3GAP1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RAB3GAP1 Gene

Localization for RAB3GAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB3GAP1 Gene

Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB3GAP1 Gene COMPARTMENTS Subcellular localization image for RAB3GAP1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
cytosol 2

Gene Ontology (GO) - Cellular Components for RAB3GAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA 25495476
GO:0005811 lipid particle IDA 25495476
GO:0043234 protein complex IDA 24891604
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with RAB3GAP1: view

Pathways & Interactions for RAB3GAP1 Gene

SuperPathways for RAB3GAP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RAB3GAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007420 brain development IMP 20512159
GO:0010628 positive regulation of gene expression IEA --
GO:0021854 hypothalamus development IMP 20512159
GO:0034389 lipid particle organization IMP 24239381
GO:0043010 camera-type eye development IMP 20512159
genes like me logo Genes that share ontologies with RAB3GAP1: view

No data available for Pathways by source and SIGNOR curated interactions for RAB3GAP1 Gene

Drugs & Compounds for RAB3GAP1 Gene

(1) Drugs for RAB3GAP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for RAB3GAP1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gdp
gtp
Partial agonist, Agonist
genes like me logo Genes that share compounds with RAB3GAP1: view

Transcripts for RAB3GAP1 Gene

mRNA/cDNA for RAB3GAP1 Gene

(6) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RAB3GAP1 Gene

RAB3 GTPase activating protein subunit 1 (catalytic):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAB3GAP1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB3GAP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16
SP1:
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:

Relevant External Links for RAB3GAP1 Gene

GeneLoc Exon Structure for
RAB3GAP1
ECgene alternative splicing isoforms for
RAB3GAP1

Expression for RAB3GAP1 Gene

mRNA expression in normal human tissues for RAB3GAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAB3GAP1 Gene

This gene is overexpressed in Heart (20.2) and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB3GAP1 Gene



SOURCE GeneReport for Unigene cluster for RAB3GAP1 Gene Hs.306327

mRNA Expression by UniProt/SwissProt for RAB3GAP1 Gene

Q15042-RB3GP_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with RAB3GAP1: view

Protein tissue co-expression partners for RAB3GAP1 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for RAB3GAP1 Gene

Orthologs for RAB3GAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB3GAP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAB3GAP1 35
  • 91.95 (n)
  • 95.21 (a)
RAB3GAP1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB3GAP1 35
  • 92.86 (n)
  • 95.03 (a)
RAB3GAP1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab3gap1 35
  • 87.11 (n)
  • 93.16 (a)
Rab3gap1 16
Rab3gap1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAB3GAP1 35
  • 99.63 (n)
  • 99.7 (a)
RAB3GAP1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB3GAP1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB3GAP1 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB3GAP1 35
  • 80.26 (n)
  • 87.28 (a)
RAB3GAP1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB3GAP1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab3gap1 35
  • 72.39 (n)
  • 79.73 (a)
zebrafish
(Danio rerio)
Actinopterygii rab3gap1 35
  • 66.8 (n)
  • 74.3 (a)
rab3gap1 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31935 35
  • 46.76 (n)
  • 37.12 (a)
CG31935 36
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rbg-1 35
  • 44.86 (n)
  • 30.52 (a)
rbg-1 36
  • 25 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for RAB3GAP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAB3GAP1 Gene

ENSEMBL:
Gene Tree for RAB3GAP1 (if available)
TreeFam:
Gene Tree for RAB3GAP1 (if available)

Paralogs for RAB3GAP1 Gene

No data available for Paralogs for RAB3GAP1 Gene

Variants for RAB3GAP1 Gene

Sequence variations from dbSNP and Humsavar for RAB3GAP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs935614 -- 135,175,150(+) GAATA(A/G)GTGTG intron-variant
rs1031575 -- 135,100,360(+) GGCCT(A/G)TAGCC intron-variant
rs1059031 -- 135,071,398(+) AGTTT(G/T)GTTTC intron-variant
rs1116499 -- 135,158,682(-) TTTCC(A/C)CCTAG intron-variant
rs1869829 -- 135,119,992(-) ATTAA(C/T)GAATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB3GAP1 Gene

Variant ID Type Subtype PubMed ID
nsv834386 CNV Gain 17160897

Variation tolerance for RAB3GAP1 Gene

Residual Variation Intolerance Score: 13.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.86; 86.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB3GAP1 Gene

HapMap Linkage Disequilibrium report
RAB3GAP1
Human Gene Mutation Database (HGMD)
RAB3GAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB3GAP1 Gene

Disorders for RAB3GAP1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RAB3GAP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
warburg micro syndrome 1
  • micro syndrome
cataract - intellectual disability - hypogonadism
  • martsolf syndrome
warburg micro syndrome
  • micro syndrome
spastic diplegia
  • infantile diplegic cerebral palsy
martsolf syndrome
  • cataract mental retardation hypogonadism
- elite association

UniProtKB/Swiss-Prot

RB3GP_HUMAN
  • Warburg micro syndrome 1 (WARBM1) [MIM:600118]: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. {ECO:0000269 PubMed:15696165}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAB3GAP1

Genetic Association Database (GAD)
RAB3GAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB3GAP1
genes like me logo Genes that share disorders with RAB3GAP1: view

No data available for Genatlas for RAB3GAP1 Gene

Publications for RAB3GAP1 Gene

  1. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. (PMID: 15696165) Aligianis I.A. … Maher E.R. (Nat. Genet. 2005) 2 23 67
  2. Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins. (PMID: 9030515) Fukui K. … Takai Y. (J. Biol. Chem. 1997) 2 23 67
  3. Acoustic trauma evokes hyperactivity and changes in gene expression in guinea-pig auditory brainstem. (PMID: 20525074) Dong S. … Robertson D. (Eur. J. Neurosci. 2010) 23 67
  4. Changes in neuronal activity and gene expression in guinea-pig auditory brainstem after unilateral partial hearing loss. (PMID: 19356697) Dong S. … Robertson D. (Neuroscience 2009) 23 67
  5. Phenotypic variability in Micro syndrome: report of new cases. (PMID: 18286824) Abdel-Salam G.M. … Aligianis I.A. (Genet. Couns. 2007) 23 67

Products for RAB3GAP1 Gene

Sources for RAB3GAP1 Gene

Back to Top

Content