Aliases for RABGAP1 Gene

Aliases for RABGAP1 Gene

  • RAB GTPase Activating Protein 1 2 3 5
  • Rab6 GTPase Activating Protein (GAP And Centrosome-Associated) 2 3
  • Rab6 GTPase-Activating Protein GAPCenA 3 4
  • GAP And Centrosome-Associated Protein 3 4
  • Rab GTPase-Activating Protein 1 3 4
  • TBC1 Domain Family, Member 11 2 3
  • TBC1D11 2 3
  • Rab6 GTPase Activating Protein, GAPCenA 3
  • GAPCENA 3
  • RABGAP1 5
  • GAPCenA 2

External Ids for RABGAP1 Gene

Previous GeneCards Identifiers for RABGAP1 Gene

  • GC09P121079
  • GC09P122782
  • GC09P124743
  • GC09P125703
  • GC09P095318

Summaries for RABGAP1 Gene

GeneCards Summary for RABGAP1 Gene

RABGAP1 (RAB GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with RABGAP1 include Warburg Micro Syndrome and Warburg Micro Syndrome 1. Among its related pathways are TBC/RABGAPs and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and Rab GTPase binding. An important paralog of this gene is RABGAP1L.

UniProtKB/Swiss-Prot Summary for RABGAP1 Gene

  • May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition.

Additional gene information for RABGAP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RABGAP1 Gene

Genomics for RABGAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RABGAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RABGAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RABGAP1

Top Transcription factor binding sites by QIAGEN in the RABGAP1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • CUTL1
  • E47
  • GATA-1
  • Hand1
  • HEN1
  • HNF-3beta
  • Pax-5
  • SRY

Genomic Locations for RABGAP1 Gene

Genomic Locations for RABGAP1 Gene
chr9:122,931,640-123,104,869
(GRCh38/hg38)
Size:
173,230 bases
Orientation:
Plus strand
chr9:125,703,112-125,867,147
(GRCh37/hg19)
Size:
164,036 bases
Orientation:
Plus strand

Genomic View for RABGAP1 Gene

Genes around RABGAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RABGAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RABGAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RABGAP1 Gene

Proteins for RABGAP1 Gene

  • Protein details for RABGAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3P9-RBGP1_HUMAN
    Recommended name:
    Rab GTPase-activating protein 1
    Protein Accession:
    Q9Y3P9
    Secondary Accessions:
    • B9A6L2
    • Q05CW2
    • Q6ZMY1
    • Q9HA28
    • Q9P0E2
    • Q9UG67

    Protein attributes for RABGAP1 Gene

    Size:
    1069 amino acids
    Molecular mass:
    121737 Da
    Quaternary structure:
    • Interacts with RAB6A and tubulin gamma.
    SequenceCaution:
    • Sequence=AAF28917.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH20609.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH54492.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AK022408; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=CAB40267.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RABGAP1 Gene

    Alternative splice isoforms for RABGAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RABGAP1 Gene

Post-translational modifications for RABGAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RABGAP1 Gene

Domains & Families for RABGAP1 Gene

Gene Families for RABGAP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RABGAP1 Gene

InterPro:
Blocks:
  • Phosphotyrosine interaction domain
  • RabGAP/TBC domain
ProtoNet:

Suggested Antigen Peptide Sequences for RABGAP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53389, highly similar to Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA (B7Z2B4_HUMAN)
  • TBC1 domain family, member 11 (B9A6L2_HUMAN)
  • Rab6 GTPase-activating protein GAPCenA (RBGP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y3P9

UniProtKB/Swiss-Prot:

RBGP1_HUMAN :
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
genes like me logo Genes that share domains with RABGAP1: view

Function for RABGAP1 Gene

Molecular function for RABGAP1 Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition.

Phenotypes From GWAS Catalog for RABGAP1 Gene

Gene Ontology (GO) - Molecular Function for RABGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0005096 GTPase activator activity IEA,IDA 17562788
GO:0005515 protein binding IPI 20562859
GO:0015631 tubulin binding TAS 10202141
GO:0017137 Rab GTPase binding IPI 17562788
genes like me logo Genes that share ontologies with RABGAP1: view
genes like me logo Genes that share phenotypes with RABGAP1: view

Animal Models for RABGAP1 Gene

MGI Knock Outs for RABGAP1:
  • Rabgap1 Rabgap1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for RABGAP1 Gene

miRTarBase miRNAs that target RABGAP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RABGAP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RABGAP1 Gene

Localization for RABGAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RABGAP1 Gene

Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Predominantly cytosolic but also associated with the centrosome. {ECO:0000269 PubMed:10202141}.

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 RABGAP1 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RABGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome TAS 10202141
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with RABGAP1: view

Pathways & Interactions for RABGAP1 Gene

genes like me logo Genes that share pathways with RABGAP1: view

Pathways by source for RABGAP1 Gene

1 BioSystems pathway for RABGAP1 Gene
3 Reactome pathways for RABGAP1 Gene

Gene Ontology (GO) - Biological Process for RABGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0007049 cell cycle IEA --
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA --
GO:0043087 regulation of GTPase activity IDA 17562788
genes like me logo Genes that share ontologies with RABGAP1: view

No data available for SIGNOR curated interactions for RABGAP1 Gene

Drugs & Compounds for RABGAP1 Gene

No Compound Related Data Available

Transcripts for RABGAP1 Gene

mRNA/cDNA for RABGAP1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RABGAP1

Alternative Splicing Database (ASD) splice patterns (SP) for RABGAP1 Gene

No ASD Table

Relevant External Links for RABGAP1 Gene

GeneLoc Exon Structure for
RABGAP1

Expression for RABGAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RABGAP1 Gene

Protein differential expression in normal tissues from HIPED for RABGAP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.9) and Lymph node (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RABGAP1 Gene



Protein tissue co-expression partners for RABGAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RABGAP1

SOURCE GeneReport for Unigene cluster for RABGAP1 Gene:

Hs.271341

Evidence on tissue expression from TISSUES for RABGAP1 Gene

  • Nervous system(4.5)
  • Blood(4.4)
  • Muscle(2.2)
  • Kidney(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with RABGAP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RABGAP1 Gene

Orthologs for RABGAP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RABGAP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RABGAP1 30 31
  • 99.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 99 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia RABGAP1 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RABGAP1 30 31
  • 94.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RABGAP1 30 31
  • 94.36 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rabgap1 30 17 31
  • 91.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rabgap1 30
  • 90.77 (n)
Chicken
(Gallus gallus)
Aves RABGAP1 30 31
  • 82.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RABGAP1 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rabgap1 30
  • 75.07 (n)
Zebrafish
(Danio rerio)
Actinopterygii RABGAP1 31
  • 83 (a)
OneToOne
LOC559632 30
  • 72.71 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta GapcenA 30
  • 49.73 (n)
CG7112 31
  • 34 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007332 30
  • 47.78 (n)
Worm
(Caenorhabditis elegans)
Secernentea tbc-11 30 31
  • 49.47 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP5 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToMany
Species where no ortholog for RABGAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 RABGAP1 Gene

ENSEMBL:
Gene Tree for RABGAP1 (if available)
TreeFam:
Gene Tree for RABGAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RABGAP1: view image

Paralogs for RABGAP1 Gene

(5) SIMAP similar genes for RABGAP1 Gene using alignment to 4 proteins:

  • RBGP1_HUMAN
  • B5MCD9_HUMAN
  • B7Z2B4_HUMAN
  • C9JGR5_HUMAN
genes like me logo Genes that share paralogs with RABGAP1: view

Variants for RABGAP1 Gene

Additional dbSNP identifiers (rs#s) for RABGAP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RABGAP1 Gene

Variant ID Type Subtype PubMed ID
esv2659860 CNV deletion 23128226
esv3621686 CNV loss 21293372
nsv1110060 CNV deletion 24896259
nsv517807 CNV loss 19592680
nsv831717 CNV gain 17160897
nsv972805 CNV duplication 23825009

Variation tolerance for RABGAP1 Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.40; 42.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RABGAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RABGAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RABGAP1 Gene

Disorders for RABGAP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RABGAP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
warburg micro syndrome
  • micro syndrome
warburg micro syndrome 1
  • warbm1
charcot-marie-tooth disease, type 4h
  • cmt4h
martsolf syndrome
  • cataract-mental retardation-hypogonadism
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RABGAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RABGAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RABGAP1 Gene

Publications for RABGAP1 Gene

  1. Characterization of GAPCenA, a GTPase activating protein for Rab6, part of which associates with the centrosome. (PMID: 10202141) Cuif MH … Goud B (The EMBO journal 1999) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2009) 3 4
  4. A role for the Rab6A' GTPase in the inactivation of the Mad2-spindle checkpoint. (PMID: 16395330) Miserey-Lenkei S … Goud B (The EMBO journal 2006) 4 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for RABGAP1 Gene

Sources for RABGAP1 Gene