GIT1 Gene (Protein Coding)

GIT ArfGAP 1

GC17M029573
GIFtS:
44
See more...

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
  • ARF GTPase-Activating Protein GIT1 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
  • GIT1 5

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 Progressive Myoclonus Epilepsy 7 and Blind Loop Syndrome. Among its related pathways are Insulin receptor recycling and EPH-Ephrin signaling. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is GIT2.

UniProtKB/Swiss-Prot Summary 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 ENTR1 and PTPN13 (By similarity).

Gene Wiki entry for GIT1 Gene

Additional gene information for GIT1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GIT1 Gene

Genomics for GIT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GIT1 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 GIT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GIT1

Top Transcription factor binding sites by QIAGEN in the GIT1 gene promoter:
  • AP-1
  • ATF-2
  • c-Ets-1
  • c-Jun
  • HEN1
  • HTF
  • Nkx6-1
  • PPAR-gamma1
  • PPAR-gamma2
  • Spz1

Genomic Locations for GIT1 Gene

Latest Assembly
chr17:29,573,475-29,594,054
(GRCh38/hg38)
Size:
20,580 bases
Orientation:
Minus strand

Previous Assembly
chr17:27,900,493-27,916,666
(GRCh37/hg19 by Entrez Gene)
Size:
16,174 bases
Orientation:
Minus strand

chr17:27,900,487-27,921,072
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for GIT1 Gene

Proteins for GIT1 Gene

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  • 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 (via N- and C-terminus) with ENTR1 (via N-terminus); this interaction is direct (PubMed:23108400). Found in a complex with ENTR1, PTPN13 and GIT1 (PubMed:23108400). Interacts with YWHAZ (By similarity).
    SequenceCaution:
    • Sequence=AAH48196.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for GIT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GIT1 Gene

Protein Expression for GIT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Other Protein References for GIT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GIT1 Gene

Domains & Families for GIT1 Gene

Gene Families for GIT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GIT1 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • HIV Rev interacting protein signature
  • Spa2 homology (SHD) of GIT

Suggested Antigen Peptide Sequences for GIT1 Gene

GenScript: Design optimal peptide antigens:
  • GRK-interacting protein 1 (GIT1_HUMAN)
  • GIT1 protein (Q6PIN6_HUMAN)
  • GIT1 protein (Q9BSI3_HUMAN)

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

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  6. Cell Lines for research

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 ENTR1 and PTPN13 (By similarity).

Phenotypes From GWAS Catalog for GIT1 Gene

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 IEA,IPI 15182672
GO:0044877 protein-containing 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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GIT1

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
mitochondrion 4
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endosome 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Focal adhesion sites (3)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol IDA,TAS --
GO:0005925 focal adhesion IDA --
GO:0016020 membrane HDA 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:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for GIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001957 intramembranous ossification ISS --
GO:0007420 brain development IEA --
GO:0007626 locomotory behavior IEA --
GO:0008277 regulation of G protein-coupled receptor signaling pathway TAS 9826657
GO:0032465 regulation of cytokinesis IDA 23108400
genes like me logo Genes that share ontologies with GIT1: view

Drugs & Compounds for GIT1 Gene

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(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

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mRNA/cDNA for GIT1 Gene

2 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
15 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 GIT1

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

Expression for GIT1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for GIT1 Gene
mRNA expression by GTEx for GIT1 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for GIT1 Gene



Protein tissue co-expression partners for GIT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Blood(4.5)
  • Liver(4.4)
  • Muscle(2.6)
  • Kidney(2.5)
  • Skin(2.4)
  • Heart(2.4)
  • Intestine(2.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with GIT1: view

Primer products for research

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 29 30
  • 99.44 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GIT1 29 30
  • 92.65 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GIT1 29 30
  • 92.16 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Git1 29
  • 90.3 (n)
Mouse
(Mus musculus)
 Mammalia Git1 29 16 30
  • 90.09 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 83 (a)
 OneToMany
-- 30
  • 68 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves GIT1 29 30
  • 80.9 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GIT1 30
  • 81 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii git1 30
  • 76 (a)
 OneToOne
LOC568935 29
  • 70.95 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG16728 31
  • 44 (a)
Git 30
  • 38 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea F14F3.2 31
  • 34 (a)
git-1 30
  • 29 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 31 (a)
 OneToMany
Species where no ortholog for GIT1 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)
  • 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 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GIT1: view image
Alliance of Genome Resources:
Additional Orthologs for GIT1

Paralogs for GIT1 Gene

Paralogs for GIT1 Gene

(12) SIMAP similar genes for GIT1 Gene using alignment to 11 proteins:

  • GIT1_HUMAN
  • E7EVC2_HUMAN
  • J3QL89_HUMAN
  • J3QLH1_HUMAN
  • J3QQI0_HUMAN
  • J3QRU8_HUMAN
  • K7EIX6_HUMAN
  • K7EN79_HUMAN
  • L0R865_HUMAN
  • Q6PIN6_HUMAN
  • Q9BSI3_HUMAN
genes like me logo Genes that share paralogs with GIT1: view

Variants for GIT1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GIT1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs144787773 Likely Benign: not provided 29,576,980(-) A/C
NM_014030.4(GIT1):c.1110T>G (p.Ser370=) 		SYNONYMOUS
rs182492370 Benign: not provided 29,582,689(-) C/T
NM_014030.4(GIT1):c.405+9G>A 		INTRON
rs78783041 Benign: not provided 29,582,975(-) G/A
NM_014030.4(GIT1):c.249C>T (p.Pro83=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GIT1 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 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)

Additional Variant Information for GIT1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for GIT1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GIT1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
progressive myoclonus epilepsy 7
  • epm7
blind loop syndrome
  • bacterial overgrowth syndrome
pneumatosis cystoides intestinalis
attention deficit-hyperactivity disorder
  • adhd
non-syndromic x-linked intellectual disability
  • non-specific x-linked mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search GIT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GIT1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 RT … Lefkowitz RJ (The Journal of biological chemistry 2000) 2 3 4 22
  2. beta2-Adrenergic receptor regulation by GIT1, a G protein-coupled receptor kinase-associated ADP ribosylation factor GTPase-activating protein. (PMID: 9826657) Premont RT … Lefkowitz RJ (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 22
  3. Mammalian Scribble forms a tight complex with the betaPIX exchange factor. (PMID: 15182672) Audebert S … Borg JP (Current biology : CB 2004) 3 4 22
  4. GIT1 functions in a motile, multi-molecular signaling complex that regulates protrusive activity and cell migration. (PMID: 11896197) Manabe R … Horwitz AR (Journal of cell science 2002) 3 4 22
  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 KS (Oncogene 2013) 3 4

ExternalLinks

View latest publications for GIT1 gene in Mastermind

Products for GIT1 Gene

  • Addgene plasmids for GIT1

Sources for GIT1 Gene