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Aliases for GIT1 Gene

Aliases for GIT1 Gene

  • GIT ArfGAP 1 2 3 5
  • G Protein-Coupled Receptor Kinase Interacting ArfGAP 1 2 3
  • Cool-Associated And Tyrosine-Phosphorylated Protein 1 3 4
  • G Protein-Coupled Receptor Kinase-Interactor 1 3 4
  • GRK-Interacting Protein 1 3 4
  • ARF GAP GIT1 3 4
  • CAT-1 3 4
  • CAT1 3 4
  • G Protein-Coupled Receptor Kinase Interactor 1 2
  • ARF GTPase-Activating Protein GIT1 3

External Ids for GIT1 Gene

Previous GeneCards Identifiers for GIT1 Gene

  • GC17M027560
  • GC17M029800
  • GC17M027752
  • GC17M028046
  • GC17M024924
  • GC17M027900
  • GC17M024109

Summaries for GIT1 Gene

GeneCards Summary for GIT1 Gene

GIT1 (GIT ArfGAP 1) is a Protein Coding gene. Diseases associated with GIT1 include Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb and Chromosome 17Q11.2 Deletion Syndrome. Among its related pathways are Arf6 signaling events and Adhesion. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is GIT2.

UniProtKB/Swiss-Prot for GIT1 Gene

  • GTPase-activating protein for the ADP ribosylation factor family. May serve as a scaffold to bring together molecules to form signaling modules controlling vesicle trafficking, adhesion and cytoskeletal organization. Increases the speed of cell migration, as well as the size and rate of formation of protrusions, possibly by targeting PAK1 to adhesions and the leading edge of lamellipodia. Sequesters inactive non-tyrosine-phosphorylated paxillin in cytoplasmic complexes. Involved in the regulation of cytokinesis; the function may involve SDCCAG3 and PTPN13 (By similarity).

Gene Wiki entry for GIT1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GIT1 Gene

Genomics for GIT1 Gene

Regulatory Elements for GIT1 Gene

Enhancers for GIT1 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
GH17G028715 1.7 Ensembl ENCODE dbSUPER 3.7 +871.1 871131 14.4 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 PROCA1 SARM1 ANKRD13B ENSG00000264577 SDF2 TMEM199 NEK8 NUFIP2 RPL23A ENSG00000265474
GH17G028841 1.1 ENCODE 3.8 +751.7 751688 2.1 HDGF CREB3L1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF207 SP3 REST TRAF4 TAOK1 GIT1 ENSG00000238516 ENSG00000264138
GH17G029586 1.7 FANTOM5 ENCODE dbSUPER 2 +3.5 3452 8.4 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 TP53I13 CORO6 ANKRD13B LRRC37BP1 ENSG00000258472 TBC1D29 EFCAB5 GIT1 ENSG00000264647
GH17G029212 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.7 +381.1 381142 1.3 HDGF HDAC1 PKNOX1 PTBP1 KLF17 INSM2 SIN3A NFXL1 SCRT2 ZNF143 MYO18A CRYBA1 TIAF1 TAOK1 NEK8 GIT1 TWF1P1
GH17G029175 1.8 FANTOM5 ENCODE dbSUPER 1.3 +415.4 415437 5.7 MLX CREB3L1 AGO1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 MYO18A TIAF1 ENSG00000265474 TLCD1 TRAF4 GIT1 ENSG00000263709
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GIT1 on UCSC Golden Path with GeneCards custom track

Promoters for GIT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000092891 554 1001 CREB3L1 SIN3A ETS1 GLIS2 ZNF143 KLF7 SP3 TSHZ1 REST ZNF610

Genomic Location for GIT1 Gene

Chromosome:
17
Start:
29,573,469 bp from pter
End:
29,594,054 bp from pter
Size:
20,586 bases
Orientation:
Minus strand

Genomic View for GIT1 Gene

Genes around GIT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GIT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GIT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GIT1 Gene

Proteins for GIT1 Gene

  • Protein details for GIT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2X7-GIT1_HUMAN
    Recommended name:
    ARF GTPase-activating protein GIT1
    Protein Accession:
    Q9Y2X7
    Secondary Accessions:
    • B4DGU9
    • B4DSV3
    • Q86SS0
    • Q9BRJ4

    Protein attributes for GIT1 Gene

    Size:
    761 amino acids
    Molecular mass:
    84341 Da
    Quaternary structure:
    • Interacts with G protein-coupled receptor kinases: GRK2, PPFIA1 and PPFIA4. Interacts with ARHGEF6/alpha-PIX, with ARHGEF7/beta-PIX, with PXN/paxillin and with PTK2/FAK1 (By similarity). Component of cytoplasmic complexes, which also contain PXN, ARHGEF6 and PAK1. Interacts with TGFB1I1. Interacts with SCRIB. Interacts with SDCCAG3 (PubMed:23108400).
    SequenceCaution:
    • Sequence=AAH48196.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for GIT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GIT1 Gene

Post-translational modifications for GIT1 Gene

  • Phosphorylated on tyrosine residues by PTK2/FAK1 and SRC in growing fibroblasts. Tyrosine-phosphorylation is increased following cell spreading on fibronectin, decreased in cells arrested in mitosis and increased in the ensuing G1 phase (By similarity).
  • Ubiquitination at Lys49
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GIT1 (GIT1)
  • Abcam antibodies for GIT1

No data available for DME Specific Peptides for GIT1 Gene

Domains & Families for GIT1 Gene

Gene Families for GIT1 Gene

Suggested Antigen Peptide Sequences for GIT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2X7

UniProtKB/Swiss-Prot:

GIT1_HUMAN :
  • The paxillin-binding domain is masked in the full-length protein and is regulated by ARHGEF6.
Domain:
  • The paxillin-binding domain is masked in the full-length protein and is regulated by ARHGEF6.
genes like me logo Genes that share domains with GIT1: view

Function for GIT1 Gene

Molecular function for GIT1 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein for the ADP ribosylation factor family. May serve as a scaffold to bring together molecules to form signaling modules controlling vesicle trafficking, adhesion and cytoskeletal organization. Increases the speed of cell migration, as well as the size and rate of formation of protrusions, possibly by targeting PAK1 to adhesions and the leading edge of lamellipodia. Sequesters inactive non-tyrosine-phosphorylated paxillin in cytoplasmic complexes. Involved in the regulation of cytokinesis; the function may involve SDCCAG3 and PTPN13 (By similarity).

Gene Ontology (GO) - Molecular Function for GIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 15182672
GO:0032403 protein complex binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GIT1: view
genes like me logo Genes that share phenotypes with GIT1: view

Animal Models for GIT1 Gene

MGI Knock Outs for GIT1:

Animal Model Products

CRISPR Products

miRNA for GIT1 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GIT1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GIT1 Gene

Localization for GIT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GIT1 Gene

Cytoplasm. Note=Cycles between at least 3 distinct intracellular compartments, including focal adhesions, cytoplasmic complexes and membrane protrusions. During cell migration, when cells detach, moves from the adhesions into the cytoplasmic complexes towards the leading edge, while, when cells adhere, it is found in vinculin-containing adhesions. Recruitment to adhesions may be mediated by active tyrosine-phosphorylated paxillin.

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 GIT1 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
endosome 1

Gene Ontology (GO) - Cellular Components for GIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with GIT1: view

Pathways & Interactions for GIT1 Gene

genes like me logo Genes that share pathways with GIT1: view

SIGNOR curated interactions for GIT1 Gene

Activates:
Other effect:

Gene Ontology (GO) - Biological Process for GIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway TAS 9826657
GO:0032465 regulation of cytokinesis IDA 23108400
GO:0043547 positive regulation of GTPase activity IEA --
GO:0048013 ephrin receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with GIT1: view

Drugs & Compounds for GIT1 Gene

(2) Drugs for GIT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for GIT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GIT1: view

Transcripts for GIT1 Gene

Unigene Clusters for GIT1 Gene

G protein-coupled receptor kinase interacting ArfGAP 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GIT1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GIT1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^
SP1: - - - - - - -
SP2: - - - - - - - -
SP3:
SP4: - - - - -
SP5: - - - - -
SP6: - - - -
SP7:
SP8:
SP9: - -
SP10: -
SP11: - - - - -
SP12:

ExUns: 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for GIT1 Gene

GeneLoc Exon Structure for
GIT1
ECgene alternative splicing isoforms for
GIT1

Expression for GIT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GIT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GIT1 Gene

This gene is overexpressed in Brain (12.0), Peripheral blood mononuclear cells (10.0), and Frontal cortex (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GIT1 Gene



Protein tissue co-expression partners for GIT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GIT1 Gene:

GIT1

SOURCE GeneReport for Unigene cluster for GIT1 Gene:

Hs.514051

Evidence on tissue expression from TISSUES for GIT1 Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Blood(4.3)
  • Liver(4.2)
  • Muscle(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with GIT1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GIT1 Gene

Orthologs for GIT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GIT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GIT1 34 35
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia GIT1 34 35
  • 92.65 (n)
dog
(Canis familiaris)
Mammalia GIT1 34 35
  • 92.16 (n)
rat
(Rattus norvegicus)
Mammalia Git1 34
  • 90.3 (n)
mouse
(Mus musculus)
Mammalia Git1 34 16 35
  • 90.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves GIT1 34 35
  • 80.9 (n)
lizard
(Anolis carolinensis)
Reptilia GIT1 35
  • 81 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii git1 35
  • 76 (a)
OneToOne
LOC568935 34
  • 70.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16728 36
  • 44 (a)
Git 35
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F14F3.2 36
  • 34 (a)
git-1 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToMany
Species where no ortholog for GIT1 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GIT1 Gene

ENSEMBL:
Gene Tree for GIT1 (if available)
TreeFam:
Gene Tree for GIT1 (if available)

Paralogs for GIT1 Gene

Paralogs for GIT1 Gene

genes like me logo Genes that share paralogs with GIT1: view

Variants for GIT1 Gene

Sequence variations from dbSNP and Humsavar for GIT1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000175695 -- 29,576,336(+) GTGTG(C/T)GCTCC reference, missense
rs1000196818 -- 29,591,122(+) TGAGA(C/T)GGGAG intron-variant, upstream-variant-2KB
rs1000227959 -- 29,576,095(+) AGCAG(G/T)GACGT reference, missense
rs1000500862 -- 29,581,774(+) CCAGC(C/T)GGTCA reference, missense
rs1000551274 -- 29,574,498(+) GTGGG(A/G)GACAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GIT1 Gene

Variant ID Type Subtype PubMed ID
esv25114 CNV loss 19812545
nsv1072727 CNV deletion 25765185
nsv1121933 CNV deletion 24896259
nsv521557 CNV loss 19592680
nsv526524 CNV loss 19592680
nsv833409 CNV gain 17160897

Variation tolerance for GIT1 Gene

Residual Variation Intolerance Score: 5.12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GIT1 Gene

Human Gene Mutation Database (HGMD)
GIT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GIT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GIT1 Gene

Disorders for GIT1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GIT1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chromosome 17q11.2 deletion syndrome, 1.4-mb
  • chromosome 17q11.2 deletion syndrome, 1.4mb
chromosome 17q11.2 deletion syndrome
  • chromosome 17q11.2 deletion syndrome, 1.4mb
attention deficit-hyperactivity disorder
  • attention deficit hyperactivity disorder
- elite association - COSMIC cancer census association via MalaCards
Search GIT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GIT1

Genetic Association Database (GAD)
GIT1
Human Genome Epidemiology (HuGE) Navigator
GIT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GIT1
genes like me logo Genes that share disorders with GIT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GIT1 Gene

Publications for GIT1 Gene

  1. The GIT family of ADP-ribosylation factor GTPase-activating proteins. Functional diversity of GIT2 through alternative splicing. (PMID: 10896954) Premont R.T. … Lefkowitz R.J. (J. Biol. Chem. 2000) 2 3 4 22 64
  2. Beta2-adrenergic receptor regulation by GIT1, a G protein-coupled receptor kinase-associated ADP ribosylation factor GTPase-activating protein. (PMID: 9826657) Premont R.T. … Lefkowitz R.J. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 22 64
  3. Mammalian Scribble forms a tight complex with the betaPIX exchange factor. (PMID: 15182672) Audebert S. … Borg J.-P. (Curr. Biol. 2004) 3 4 22 64
  4. GIT1 functions in a motile, multi-molecular signaling complex that regulates protrusive activity and cell migration. (PMID: 11896197) Manabe R. … Horwitz A.R. (J. Cell Sci. 2002) 3 4 22 64
  5. The serologically defined colon cancer antigen-3 interacts with the protein tyrosine phosphatase PTPN13 and is involved in the regulation of cytokinesis. (PMID: 23108400) Hagemann N. … Erdmann K.S. (Oncogene 2013) 3 4 64

Products for GIT1 Gene

Sources for GIT1 Gene

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