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GIT1 GIT ArfGAP 1 [ Homo sapiens (human) ]

Gene ID: 28964, updated on 29-Mar-2020

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
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
Expression
Broad expression in testis (RPKM 58.9), brain (RPKM 28.4) and 23 other tissues See more
Orthologs

Genomic context

See GIT1 in Genome Data Viewer
Location:
17q11.2
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (29573475..29589648, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27900487..27916610, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 15 Neighboring gene tumor protein p53 inducible protein 13 Neighboring gene ankyrin repeat domain 13B Neighboring gene coronin 6 Neighboring gene Sharpr-MPRA regulatory region 12866

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
presynaptic modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
regulation of G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
regulation of cytokinesis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
calyx of Held IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
focal adhesion HDA PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
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

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    Q9Y2X7
    UniProtKB/TrEMBL
    Q59FC3
    Related
    ENSP00000378338.3, ENST00000394869.7
    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: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
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]
  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
    Q9Y2X7
    Related
    ENSP00000225394.3, ENST00000225394.7
    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: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
    sd00045
    Location:137165
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024450734.1XP_024306502.1  ARF GTPase-activating protein GIT1 isoform X4

    Conserved Domains (5) summary
    cd00204
    Location:155252
    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 ...
    sd00045
    Location:158197
    ANK; ANK repeat [structural motif]
    pfam08518
    Location:360387
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:672786
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam16559
    Location:441505
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  2. XM_024450733.1XP_024306501.1  ARF GTPase-activating protein GIT1 isoform X3

    Conserved Domains (5) summary
    cd00204
    Location:155252
    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 ...
    sd00045
    Location:158197
    ANK; ANK repeat [structural motif]
    pfam08518
    Location:360387
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:672793
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam16559
    Location:441505
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  3. XM_024450732.1XP_024306500.1  ARF GTPase-activating protein GIT1 isoform X2

    Conserved Domains (5) summary
    cd00204
    Location:155252
    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 ...
    sd00045
    Location:158197
    ANK; ANK repeat [structural motif]
    pfam08518
    Location:369396
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:681795
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam16559
    Location:450514
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  4. XM_024450731.1XP_024306499.1  ARF GTPase-activating protein GIT1 isoform X1

    Conserved Domains (5) summary
    cd00204
    Location:155252
    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 ...
    sd00045
    Location:158197
    ANK; ANK repeat [structural motif]
    pfam08518
    Location:369396
    GIT_SHD; Spa2 homology domain (SHD) of GIT
    pfam12205
    Location:681802
    GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term
    pfam16559
    Location:450514
    GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
  5. XM_011524685.2XP_011522987.1  ARF GTPase-activating protein GIT1 isoform X6

    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]
  6. XM_011524684.2XP_011522986.1  ARF GTPase-activating protein GIT1 isoform X5

    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]
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