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    GIT1 GIT ArfGAP 1 [ Homo sapiens (human) ]

    Gene ID: 28964, updated on 17-Jun-2024

    Summary

    Official Symbol
    GIT1provided by HGNC
    Official Full Name
    GIT ArfGAP 1provided by HGNC
    Primary source
    HGNC:HGNC:4272
    See related
    Ensembl:ENSG00000108262 MIM:608434; AllianceGenome:HGNC:4272
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p95-APP1
    Summary
    Enables gamma-tubulin binding activity. Involved in positive regulation of microtubule nucleation and regulation of cytokinesis. Located in several cellular components, including focal adhesion; microtubule cytoskeleton; and mitochondrion. Implicated in attention deficit hyperactivity disorder. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 58.9), brain (RPKM 28.4) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GIT1 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (29573475..29589648, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (30516351..30532526, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27900493..27916666, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TAO kinase 1 Neighboring gene uncharacterized LOC124904148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27896259-27896759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8376 Neighboring gene abhydrolase domain containing 15 Neighboring gene tumor protein p53 inducible protein 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27911138-27911952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27911953-27912765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27914948-27915847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8377 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27916747-27917646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11982 Neighboring gene ankyrin repeat domain 13B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27940429-27941292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27942158-27943021 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8384 Neighboring gene Sharpr-MPRA regulatory region 12866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8385 Neighboring gene coronin 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables gamma-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell redox homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ephrin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intramembranous ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of glycolytic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of inflammatory response to wounding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of interleukin-1 beta production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of microtubule nucleation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in presynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of ARF protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cytokinesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of synaptic vesicle exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic vesicle recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in calyx of Held IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in focal adhesion HDA PubMed 
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
     
    located_in lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in postsynapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ARF GTPase-activating protein GIT1
    Names
    ARF GAP GIT1
    CAT-1
    CAT1
    G protein-coupled receptor kinase interacting ArfGAP 1
    G protein-coupled receptor kinase-interactor 1
    GRK-interacting protein 1
    cool-associated and tyrosine-phosphorylated protein 1
    NP_001078923.1
    NP_054749.2
    XP_011522986.1
    XP_011522987.1
    XP_047291814.1
    XP_054171844.1
    XP_054171845.1
    XP_054171846.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001085454.2NP_001078923.1  ARF GTPase-activating protein GIT1 isoform 1

      See identical proteins and their annotated locations for NP_001078923.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB209537, AC104564, BC006227, CF994106
      Consensus CDS
      CCDS42290.1
      UniProtKB/TrEMBL
      Q59FC3
      Related
      ENSP00000378338.3, ENST00000394869.7
      Conserved Domains (6) summary
      sd00045
      Location:137165
      ANK; ANK repeat [structural motif]
      cd08846
      Location:1111
      ArfGap_GIT1; GIT1 GTPase activating protein for Arf
      pfam08518
      Location:337365
      GIT_SHD; Spa2 homology domain (SHD) of GIT
      pfam12205
      Location:649763
      GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
      pfam12796
      Location:137229
      Ank_2; Ankyrin repeats (3 copies)
      pfam16559
      Location:418482
      GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
    2. NM_014030.4NP_054749.2  ARF GTPase-activating protein GIT1 isoform 2

      See identical proteins and their annotated locations for NP_054749.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AC104564, AF124490, AK024826, BM984210, CF994106, DR001908
      Consensus CDS
      CCDS11250.1
      UniProtKB/Swiss-Prot
      B4DGU9, B4DSV3, Q86SS0, Q9BRJ4, Q9Y2X7
      UniProtKB/TrEMBL
      Q59FC3
      Related
      ENSP00000225394.3, ENST00000225394.8
      Conserved Domains (6) summary
      sd00045
      Location:137165
      ANK; ANK repeat [structural motif]
      cd08846
      Location:1111
      ArfGap_GIT1; GIT1 GTPase activating protein for Arf
      pfam08518
      Location:328356
      GIT_SHD; Spa2 homology domain (SHD) of GIT
      pfam12205
      Location:640754
      GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
      pfam12796
      Location:137229
      Ank_2; Ankyrin repeats (3 copies)
      pfam16559
      Location:409473
      GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      29573475..29589648 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524685.3XP_011522987.1  ARF GTPase-activating protein GIT1 isoform X2

      UniProtKB/TrEMBL
      Q59FC3
      Conserved Domains (7) summary
      smart00105
      Location:3124
      ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
      cd00204
      Location:123220
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam08518
      Location:328356
      GIT_SHD; Spa2 homology domain (SHD) of GIT
      pfam12205
      Location:640761
      GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
      pfam12796
      Location:137229
      Ank_2; Ankyrin repeats (3 copies)
      pfam16559
      Location:409473
      GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
      sd00045
      Location:137165
      ANK; ANK repeat [structural motif]
    2. XM_011524684.3XP_011522986.1  ARF GTPase-activating protein GIT1 isoform X1

      UniProtKB/TrEMBL
      Q59FC3
      Conserved Domains (7) summary
      smart00105
      Location:3124
      ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
      cd00204
      Location:123220
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam08518
      Location:337365
      GIT_SHD; Spa2 homology domain (SHD) of GIT
      pfam12205
      Location:649770
      GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
      pfam12796
      Location:137229
      Ank_2; Ankyrin repeats (3 copies)
      pfam16559
      Location:418482
      GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
      sd00045
      Location:137165
      ANK; ANK repeat [structural motif]
    3. XM_047435858.1XP_047291814.1  ARF GTPase-activating protein GIT1 isoform X3

      UniProtKB/TrEMBL
      Q59FC3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      30516351..30532526 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315870.1XP_054171845.1  ARF GTPase-activating protein GIT1 isoform X2

      UniProtKB/TrEMBL
      Q59FC3
    2. XM_054315869.1XP_054171844.1  ARF GTPase-activating protein GIT1 isoform X1

      UniProtKB/TrEMBL
      Q59FC3
    3. XM_054315871.1XP_054171846.1  ARF GTPase-activating protein GIT1 isoform X3

      UniProtKB/TrEMBL
      Q59FC3