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Aliases for RAB3GAP1 Gene

Aliases for RAB3GAP1 Gene

  • RAB3 GTPase Activating Protein Catalytic Subunit 1 2 3 5
  • 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
  • Rab3 GTPase-Activating Protein Catalytic Subunit 3
  • 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 Catalytic Subunit 1) is a Protein Coding gene. Diseases associated with RAB3GAP1 include Warburg Micro Syndrome 1 and Martsolf Syndrome. Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB3GAP1 Gene

Genomics for RAB3GAP1 Gene

Regulatory Elements for RAB3GAP1 Gene

Enhancers for RAB3GAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G135797 1.1 Ensembl ENCODE 9.6 +745.4 745436 0.6 PKNOX1 ATF1 RB1 SIN3A ARID4B RAD21 EGR1 ZNF143 CREM EGR2 LOC100507600 LCT MCM6 MAP3K19 RAB3GAP1 DARS GC02M135782 GC02M135811 ENSG00000200664
GH02G135149 0.9 ENCODE 11 +99.2 99222 3.0 FOXA2 ARID4B YBX1 ZSCAN9 RARA FOS THAP11 SP5 CEBPB KAT8 MAP3K19 RAB3GAP1 GC02M135137 PIR52405
GH02G135124 0.7 ENCODE 11 +73.4 73434 2.4 PKNOX1 L3MBTL2 JUN MAFG CEBPB CEBPG ZEB2 EP300 FOSL1 MAFF RAB3GAP1 MAP3K19 ZRANB3 GC02P135137
GH02G135092 0.6 ENCODE 11.5 +41.6 41570 1.7 ELF3 FEZF1 HNF4A ATF2 ZNF843 PPARG MAP3K19 RAB3GAP1 ENSG00000208308 ZRANB3 GC02P135137
GH02G135794 0.7 Ensembl ENCODE 9.6 +742.7 742664 1.1 EGR1 NRF1 ZBTB33 DARS LOC100507600 LCT MAP3K19 RAB3GAP1 MCM6 UBXN4 GC02M135782 GC02M135811 ENSG00000200664
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB3GAP1 on UCSC Golden Path with GeneCards custom track

Promoters for RAB3GAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000123496 335 1601 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

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

Genes around RAB3GAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB3GAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for RAB3GAP1 Gene

  • Ubiquitination at isoforms=338, Lys46, Lys50, Lys197, isoforms=3, 4316, isoforms=3, 4338, isoforms=3, 4896, and isoforms=3, 4965
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB3GAP1 Gene

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:0005085 guanyl-nucleotide exchange factor activity TAS --
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

genes like me logo Genes that share phenotypes with RAB3GAP1: view

Human Phenotype Ontology for RAB3GAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAB3GAP1 Gene

MGI Knock Outs for RAB3GAP1:

Animal Model Products

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB3GAP1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 4
nucleus 2

Gene Ontology (GO) - Cellular Components for RAB3GAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IDA 25495476
GO:0005811 lipid particle IDA 25495476
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RAB3GAP1: view

Pathways & Interactions for RAB3GAP1 Gene

genes like me logo Genes that share pathways with RAB3GAP1: view

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 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
genes like me logo Genes that share compounds with RAB3GAP1: view

Transcripts for RAB3GAP1 Gene

mRNA/cDNA for RAB3GAP1 Gene

(4) 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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RAB3GAP1 Gene



Protein tissue co-expression partners for RAB3GAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAB3GAP1 Gene:

RAB3GAP1

SOURCE GeneReport for Unigene cluster for RAB3GAP1 Gene:

Hs.306327

mRNA Expression by UniProt/SwissProt for RAB3GAP1 Gene:

Q15042-RB3GP_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RAB3GAP1 Gene

  • Liver(4.3)
  • Nervous system(4.3)
  • Bone marrow(4.2)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB3GAP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • scalp
  • skull
  • tongue
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with RAB3GAP1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia RAB3GAP1 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia RAB3GAP1 34 35
  • 92.86 (n)
cow
(Bos Taurus)
Mammalia RAB3GAP1 34 35
  • 91.95 (n)
oppossum
(Monodelphis domestica)
Mammalia RAB3GAP1 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab3gap1 34 16 35
  • 87.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAB3GAP1 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB3GAP1 34 35
  • 80.26 (n)
lizard
(Anolis carolinensis)
Reptilia RAB3GAP1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab3gap1 34
  • 72.39 (n)
zebrafish
(Danio rerio)
Actinopterygii rab3gap1 34 35
  • 66.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31935 34 35
  • 46.76 (n)
worm
(Caenorhabditis elegans)
Secernentea rbg-1 34 35
  • 44.86 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToOne
Species where no ortholog for RAB3GAP1 was found in the sources mined by GeneCards:
  • 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
rs137853052 Pathogenic 135,150,456(+) ACCTT(C/T)GAGCA nc-transcript-variant, reference, stop-gained
rs137853053 Pathogenic 135,135,743(+) TCCTG(A/G)AGTGA nc-transcript-variant, reference, stop-gained
rs267606996 Pathogenic 135,133,944(+) TTTTA(A/C)CATGG nc-transcript-variant, reference, stop-gained
rs587776651 Pathogenic 135,120,919(+) TCCAG(A/G)TGAGA splice-donor-variant
rs587777152 Pathogenic 135,126,250(+) TATTC(A/G)TAAGT splice-donor-variant

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

Variant ID Type Subtype PubMed ID
esv3592568 CNV loss 21293372
esv3592571 CNV loss 21293372
nsv583171 CNV loss 21841781
nsv834386 CNV gain 17160897
nsv979128 CNV duplication 23825009

Variation tolerance for RAB3GAP1 Gene

Residual Variation Intolerance Score: 14% 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

Human Gene Mutation Database (HGMD)
RAB3GAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB3GAP1

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

Disorders for RAB3GAP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
warburg micro syndrome 1
  • micro syndrome
martsolf syndrome
  • cataract-intellectual disability-hypogonadism syndrome
warburg micro syndrome
  • micro syndrome
corneal ectasia
spastic diplegia
  • cerebral palsy
- elite association - COSMIC cancer census association via MalaCards

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 3 4 22 64
  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 3 4 22 64
  3. Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP. (PMID: 10859313) Clabecq A. … Darchen F. (J. Biol. Chem. 2000) 3 4 22 64
  4. Localization of the Rab3 small G protein regulators in nerve terminals and their involvement in Ca2+-dependent exocytosis. (PMID: 9852129) Oishi H. … Takai Y. (J. Biol. Chem. 1998) 3 4 22 64
  5. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3 46 64

Products for RAB3GAP1 Gene

Sources for RAB3GAP1 Gene

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