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... See more...

Aliases for RAB3GAP1 Gene

Aliases for RAB3GAP1 Gene

  • RAB3 GTPase Activating Protein Catalytic Subunit 1 2 3 5
  • RAB3GAP 2 3 4
  • RAB3 GTPase Activating Protein Subunit 1 (Catalytic) 2 3
  • Rab3 GTPase-Activating Protein Catalytic Subunit 3 4
  • RAB3 GTPase-Activating Protein 130 KDa Subunit 3 4
  • Rab3-GAP P130 3 4
  • RAB3GAP130 2 3
  • KIAA0066 2 4
  • WARBM1 2 3
  • RAB3GAP1 5
  • Rab3-GAP 4
  • 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 RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab guanyl-nucleotide exchange factor activity.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for RAB3GAP1 Gene

Genomics for RAB3GAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB3GAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J135051 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.3 1279 3.9 BCLAF1 SP1 ZNF207 MYC NCOR1 SSRP1 POLR2A NFIC ZBTB10 YY1 HSALNG0019045 RAB3GAP1 CCNT2 UBXN4 MAP3K19 MCM6 DARS1 ZRANB3 HSALNG0019046
GH02J135050 Enhancer 0.7 ENCODE 250.7 -1.3 -1337 0.5 NCOR1 TAL1 ZFP91 ATF1 EHMT2 HMG20A TEAD4 DPF2 ARID1B NFATC3 HSALNG0019045 RAB3GAP1 MAP3K19
GH02J135149 Enhancer 1 Ensembl ENCODE 11 +99.2 99205 3 CEBPA FOXA1 KLF11 HOMEZ ZNF217 THAP11 FOXA2 KDM6A CTBP1 SAP130 MAP3K19 RAB3GAP1 HSALNG0019048 SNORA40B ZRANB3
GH02J135797 Enhancer 0.9 Ensembl ENCODE 9.6 +745.7 745720 1.6 ZNF654 MYC CEBPA ATF3 REST CTCF CEBPB TRIM22 BHLHE40 MNT DARS1 LCT-AS1 LCT MCM6 MAP3K19 RAB3GAP1 UBXN4 HSALNG0019075 HSALNG0019076
GH02J135004 Enhancer 0.7 Ensembl 11.5 -47.8 -47781 0.8 BCLAF1 ZNF654 CTCF REST TRIM22 KLF9 RAD21 SMC3 TCF7L2 MBD1 MAP3K19 RAB3GAP1 SNORA40B R3HDM1 ZRANB3 DARS1 MCM6 piR-57337-024 HSALNG0019043 MK280269-038
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB3GAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB3GAP1

Top Transcription factor binding sites by QIAGEN in the RAB3GAP1 gene promoter:
  • aMEF-2
  • CUTL1
  • FOXC1
  • FOXO1
  • FOXO1a
  • LCR-F1
  • MEF-2
  • MEF-2A
  • POU2F1
  • STAT5A

Genomic Locations for RAB3GAP1 Gene

Latest Assembly
chr2:135,052,281-135,176,667
(GRCh38/hg38)
Size:
124,387 bases
Orientation:
Plus strand

Previous Assembly
chr2:135,809,862-135,928,280
(GRCh37/hg19 by Entrez Gene)
Size:
118,419 bases
Orientation:
Plus strand

chr2:135,809,835-135,933,964
(GRCh37/hg19 by Ensembl)
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). Interacts with LMAN1 (PubMed:22337587).
    SequenceCaution:
    • Sequence=BC071602; Type=Frameshift; 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 Lys38, Lys46, Lys50, Lys197, Lys316, Lys338, Lys896, and Lys965
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB3GAP1 Gene

Antibodies for research

No data available for DME Specific Peptides for RAB3GAP1 Gene

Domains & Families for RAB3GAP1 Gene

Gene Families for RAB3GAP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RAB3GAP1 Gene

InterPro:

Suggested Antigen Peptide Sequences for RAB3GAP1 Gene

GenScript: Design optimal peptide antigens:
  • RAB3 GTPase activating protein subunit 1 (Catalytic), isoform CRA_d (B9A6J2_HUMAN)
  • RAB3 GTPase activating protein subunit 1 (Catalytic), isoform CRA_a (D3DP75_HUMAN)
  • Rab3-GAP p130 (RB3GP_HUMAN)

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

Function for RAB3GAP1 Gene

Molecular function for RAB3GAP1 Gene

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.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=75 uM for GTP-loaded RAB3A {ECO:0000269|PubMed:10859313};

Phenotypes From GWAS Catalog for RAB3GAP1 Gene

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 IBA,IMP 24891604
GO:0005515 protein binding IPI 22337587
GO:0031267 small GTPase binding IPI 10859313
genes like me logo Genes that share ontologies with RAB3GAP1: view
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB3GAP1

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
endoplasmic reticulum 5
cytosol 5
extracellular 4
golgi apparatus 4
nucleus 3
endosome 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

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 droplet 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:0021854 hypothalamus development IMP 20512159
GO:0034389 lipid droplet organization IMP 24239381
GO:0043010 camera-type eye development IMP 20512159
GO:0043087 regulation of GTPase activity IDA 10859313
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

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB3GAP1

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

Expression for RAB3GAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for RAB3GAP1 Gene



Protein tissue co-expression partners for RAB3GAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Nervous system(4.4)
  • Liver(4.3)
  • Bone marrow(4.2)
  • Kidney(2.3)
  • Adrenal gland(2.2)
  • Eye(2.2)
  • Muscle(2.2)
  • Heart(2.2)
  • Skin(2.2)
  • Pancreas(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
Regions:
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 for research

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 29 30
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB3GAP1 29 30
  • 92.86 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB3GAP1 29 30
  • 91.95 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB3GAP1 30
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab3gap1 29 16 30
  • 87.11 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB3GAP1 30
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAB3GAP1 29 30
  • 80.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB3GAP1 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab3gap1 29
  • 72.39 (n)
Zebrafish
(Danio rerio)
Actinopterygii rab3gap1 29 30
  • 66.8 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG31935 29 30
  • 46.76 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea rbg-1 29 30
  • 44.86 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToOne
Species where no ortholog for RAB3GAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RAB3GAP1: view image
Alliance of Genome Resources:
Additional Orthologs for RAB3GAP1

Paralogs for RAB3GAP1 Gene

No data available for Paralogs for RAB3GAP1 Gene

Variants for RAB3GAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB3GAP1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1029183 Uncertain Significance: Warburg micro syndrome 1 135,133,910(+) A/G
NM_012233.3(RAB3GAP1):c.1376A>G (p.Lys459Arg)
MISSENSE
1047919 Pathogenic: Warburg micro syndrome 1 135,135,317(+) C/T
NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter)
NONSENSE
892873 Uncertain Significance: Warburg micro syndrome 1 135,052,304(+) C/T
NM_012233.3(RAB3GAP1):c.-4C>T
FIVE_PRIME_UTR
892874 Uncertain Significance: Warburg micro syndrome 1 135,052,446(+) T/C
NM_012233.3(RAB3GAP1):c.35T>C (p.Phe12Ser)
MISSENSE
892913 Uncertain Significance: Warburg micro syndrome 1 135,163,035(+) G/A
NM_012233.3(RAB3GAP1):c.2540G>A (p.Arg847Gln)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB3GAP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for RAB3GAP1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for RAB3GAP1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for RAB3GAP1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
warburg micro syndrome 1
  • warbm1
martsolf syndrome
  • cataract-mental retardation-hypogonadism
hypertrichosis
movement disease
  • movement disorder
rigidity and multifocal seizure syndrome, lethal neonatal
  • rmfsl
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for 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 IA … Maher ER (Nature genetics 2005) 2 3 4 22 72
  2. Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins. (PMID: 9030515) Fukui K … Takai Y (The Journal of biological chemistry 1997) 2 3 4 22
  3. Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP. (PMID: 10859313) Clabecq A … Darchen F (The Journal of biological chemistry 2000) 3 4 22
  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 (The Journal of biological chemistry 1998) 3 4 22
  5. Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. (PMID: 23420520) Handley MT … Aligianis IA (Human mutation 2013) 3 72

Products for RAB3GAP1 Gene

Sources for RAB3GAP1 Gene