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Aliases for GAPVD1 Gene

Aliases for GAPVD1 Gene

  • GTPase Activating Protein And VPS9 Domains 1 2 3
  • GAPEX5 3 4 6
  • RAP6 3 4 6
  • Rab5-Activating Protein 6 3 4
  • KIAA1521 4 6
  • GAPex-5 3 4
  • GTPase-Activating Protein And VPS9 Domain-Containing Protein 1 3

External Ids for GAPVD1 Gene

Summaries for GAPVD1 Gene

GeneCards Summary for GAPVD1 Gene

GAPVD1 (GTPase Activating Protein And VPS9 Domains 1) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity and GTPase activating protein binding. An important paralog of this gene is RABGEF1.

UniProtKB/Swiss-Prot for GAPVD1 Gene

  • Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells. Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras.

Gene Wiki entry for GAPVD1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAPVD1 Gene

Genomics for GAPVD1 Gene

Genomic Location for GAPVD1 Gene

Start:
125,261,794 bp from pter
End:
125,367,207 bp from pter
Size:
105,414 bases
Orientation:
Plus strand

Genomic View for GAPVD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GAPVD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAPVD1 Gene

Regulatory Elements for GAPVD1 Gene

Proteins for GAPVD1 Gene

  • Protein details for GAPVD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14C86-GAPD1_HUMAN
    Recommended name:
    GTPase-activating protein and VPS9 domain-containing protein 1
    Protein Accession:
    Q14C86
    Secondary Accessions:
    • A8MYK3
    • B0QZ62
    • B0QZ63
    • B0QZ64
    • Q14C76
    • Q2Q1W1
    • Q8ND92
    • Q8WU86
    • Q96CZ4
    • Q9NXQ1
    • Q9P207
    • Q9Y4N0

    Protein attributes for GAPVD1 Gene

    Size:
    1478 amino acids
    Molecular mass:
    164980 Da
    Quaternary structure:
    • Interacts with TRIP10/CIP4 (By similarity). Interacts with RAB5A.
    SequenceCaution:
    • Sequence=AAH21119.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH21119.1; Type=Frameshift; Positions=742; Evidence={ECO:0000305}; Sequence=BAA90959.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA90959.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA96045.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GAPVD1 Gene

neXtProt entry for GAPVD1 Gene

Proteomics data for GAPVD1 Gene at MOPED

Post-translational modifications for GAPVD1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys24, Lys49, and Lys1327

No data available for DME Specific Peptides for GAPVD1 Gene

Domains for GAPVD1 Gene

Protein Domains for GAPVD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14C86

UniProtKB/Swiss-Prot:

GAPD1_HUMAN
Domain:
  • Contains 1 Ras-GAP domain.:
    • Q14C86
  • Contains 1 VPS9 domain.:
    • Q14C86
Family:
  • Belongs to the GAPVD1 family.:
    • Q14C86
genes like me logo Genes that share domains with GAPVD1: view

No data available for Gene Families for GAPVD1 Gene

Function for GAPVD1 Gene

Molecular function for GAPVD1 Gene

UniProtKB/Swiss-Prot Function: Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells. Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras.

Gene Ontology (GO) - Molecular Function for GAPVD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IMP 16410077
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding --
GO:0032794 GTPase activating protein binding IMP 16410077
genes like me logo Genes that share ontologies with GAPVD1: view

Phenotypes for GAPVD1 Gene

genes like me logo Genes that share phenotypes with GAPVD1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for GAPVD1 Gene

Localization for GAPVD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAPVD1 Gene

Membrane; Peripheral membrane protein. Endosome. Note=Recruited to the plasma membrane by TRIP10/CIP4 in response to insulin.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GAPVD1 Gene COMPARTMENTS Subcellular localization image for GAPVD1 gene
Compartment Confidence
cytosol 5
endosome 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for GAPVD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005768 endosome IEA --
GO:0005829 cytosol IDA 16410077
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GAPVD1: view

Pathways for GAPVD1 Gene

SuperPathways for GAPVD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GAPVD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0007165 signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IMP 16410077
GO:0051056 regulation of small GTPase mediated signal transduction --
GO:0051223 regulation of protein transport IMP 16410077
genes like me logo Genes that share ontologies with GAPVD1: view

No data available for Pathways by source for GAPVD1 Gene

Compounds for GAPVD1 Gene

(3) HMDB Compounds for GAPVD1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with GAPVD1: view

Transcripts for GAPVD1 Gene

Unigene Clusters for GAPVD1 Gene

GTPase activating protein and VPS9 domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GAPVD1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^
SP1: - - - -
SP2: - -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:

ExUns: 21a · 21b · 21c · 21d ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - -
SP6:
SP7: - -
SP8:

Relevant External Links for GAPVD1 Gene

GeneLoc Exon Structure for
GAPVD1
ECgene alternative splicing isoforms for
GAPVD1

Expression for GAPVD1 Gene

mRNA expression in normal human tissues for GAPVD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GAPVD1 Gene

SOURCE GeneReport for Unigene cluster for GAPVD1 Gene Hs.495134

genes like me logo Genes that share expressions with GAPVD1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GAPVD1 Gene

Orthologs for GAPVD1 Gene

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

Orthologs for GAPVD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GAPVD1 35
  • 99.77 (n)
  • 99.93 (a)
cow
(Bos Taurus)
Mammalia GAPVD1 35
  • 91.86 (n)
  • 98.8 (a)
GAPVD1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAPVD1 35
  • 94.16 (n)
  • 98.9 (a)
GAPVD1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gapvd1 35
  • 90.49 (n)
  • 97.91 (a)
Gapvd1 16
Gapvd1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GAPVD1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAPVD1 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gapvd1 35
  • 89.54 (n)
  • 97.53 (a)
chicken
(Gallus gallus)
Aves GAPVD1 35
  • 82.56 (n)
  • 93.77 (a)
GAPVD1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAPVD1 36
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9260 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gapvd1 35
  • 74.62 (n)
  • 87.17 (a)
Str.1904 35
zebrafish
(Danio rerio)
Actinopterygii gapvd1 35
  • 71.3 (n)
  • 80.46 (a)
gapvd1 36
  • 78 (a)
OneToMany
GAPVD1 (1 of 2) 36
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1657 36
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rme-6 36
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS9 36
  • 16 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3895 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1494 36
  • 32 (a)
OneToOne
Species with no ortholog for GAPVD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 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 GAPVD1 Gene

ENSEMBL:
Gene Tree for GAPVD1 (if available)
TreeFam:
Gene Tree for GAPVD1 (if available)

Paralogs for GAPVD1 Gene

Paralogs for GAPVD1 Gene

genes like me logo Genes that share paralogs with GAPVD1: view

Variants for GAPVD1 Gene

Sequence variations from dbSNP and Humsavar for GAPVD1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs15586 -- 125,364,649(-) TCTCT(A/C)TCTAG utr-variant-3-prime
rs171473 -- 125,282,435(+) cctgg(C/T)cTGAT intron-variant
rs359587 -- 125,296,098(-) ATAGC(A/T)AAATA intron-variant
rs359592 -- 125,285,007(-) CACTG(C/T)CCGAT intron-variant
rs359593 -- 125,285,306(-) ATATC(C/T)TTCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GAPVD1 Gene

Variant ID Type Subtype PubMed ID
esv2599223 CNV Insertion 19546169
esv1528230 CNV Insertion 17803354
nsv831722 CNV Gain 17160897
esv2739042 CNV Deletion 23290073

Relevant External Links for GAPVD1 Gene

HapMap Linkage Disequilibrium report
GAPVD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAPVD1 Gene

Disorders for GAPVD1 Gene

Relevant External Links for GAPVD1

Genetic Association Database (GAD)
GAPVD1
Human Genome Epidemiology (HuGE) Navigator
GAPVD1
genes like me logo Genes that share disorders with GAPVD1: view

No data available for UniProtKB/Swiss-Prot for GAPVD1 Gene

Publications for GAPVD1 Gene

  1. Rab5-activating protein 6, a novel endosomal protein with a role in endocytosis. (PMID: 16410077) Hunker C.M. … Barbieri M.A. (Biochem. Biophys. Res. Commun. 2006) 3 4 23
  2. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Large-scale characterization of HeLa cell nuclear phosphoproteins. (PMID: 15302935) Beausoleil S.A. … Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3
  5. Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. (PMID: 15324660) Jin J. … Pawson T. (Curr. Biol. 2004) 3

Products for GAPVD1 Gene

Sources for GAPVD1 Gene

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