GIT1 GIT ArfGAP 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pan-cancer analysis of the oncogenic effects of G-protein-coupled receptor kinase-interacting protein-1 and validation on liver hepatocellular carcinoma.
Title: Pan-cancer analysis of the oncogenic effects of G-protein-coupled receptor kinase-interacting protein-1 and validation on liver hepatocellular carcinoma.
GIT1 protects against breast cancer growth through negative regulation of Notch.
Title: GIT1 protects against breast cancer growth through negative regulation of Notch.
Exosomal miR-122-5p inhibits tumorigenicity of gastric cancer by downregulating GIT1.
Title: Exosomal miR-122-5p inhibits tumorigenicity of gastric cancer by downregulating GIT1.
GIT1 overexpression promotes epithelial-mesenchymal transition and predicts poor prognosis in hepatocellular carcinoma.
Title: GIT1 overexpression promotes epithelial-mesenchymal transition and predicts poor prognosis in hepatocellular carcinoma.
mir760 targets GIT1 to inhibit cell growth and promote apoptosis in gastric cancer cells
Title: MicroRNA-760 acts as a tumor suppressor in gastric cancer development via inhibiting G-protein-coupled receptor kinase interacting protein-1 transcription.
a positive role for GIT1 by modulating the Notch/NF-kappaB signals which promoting paracrine of bone mesenchymal stem cells to enhance angiogenesis and fracture healing
Title: GIT1 regulates angiogenic factor secretion in bone marrow mesenchymal stem cells via NF-κB/Notch signalling to promote angiogenesis.
Induced association of beta-PIX with GIT1 is essential for the stimulation of intestinal epithelial restitution by activating Rac1, and this signaling pathway is tightly regulated by cellular polyamines.
Title: β-PIX plays an important role in regulation of intestinal epithelial restitution by interacting with GIT1 and Rac1 after wounding.
Alternative RNA splicing of the G protein-coupled receptor kinase-interacting protein 1 (GIT1) gene is associated with treatment-induced neuroendocrine prostate cancer (t-NEPC) and reprograms its function involving focal adhesions (FA)-mediated signaling and cell processes, which may contribute to t-NEPC development.
Title: Alternative RNA splicing of the GIT1 gene is associated with neuroendocrine prostate cancer.
There is significant interaction effects of the GIT1 and DRD4 gene variants on impulsivity in Attention Deficit Hyperactivity Disorder.
Title: Interaction effects of GIT1 and DRD4 gene variants on continuous performance test variables in patients with ADHD.
We show that GIT1, which also contains an ANK domain, inhibits the Notch1-Dll4 signaling pathway by competing with Notch1 ANK domain for binding to RBP-J in stalk cells
Title: G-Protein-Coupled Receptor-2-Interacting Protein-1 Controls Stalk Cell Fate by Inhibiting Delta-like 4-Notch1 Signaling.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH35980 (e-PCR)
- UniSTS:84228

MARC_2897-2898:991933656:1 (e-PCR)
- UniSTS:230972

RH12426 (e-PCR)
- UniSTS:29776

RH39387 (e-PCR)
- UniSTS:90034

GIT1_9564 (e-PCR)
- UniSTS:468439

G17968 (e-PCR)
- UniSTS:29436

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 more info	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 more info	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

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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)

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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)

NM_001085454.2 → NP_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:137 → 165

ANK; ANK repeat [structural motif]

cd08846
Location:1 → 111

ArfGap_GIT1; GIT1 GTPase activating protein for Arf

pfam08518
Location:337 → 365

GIT_SHD; Spa2 homology domain (SHD) of GIT

pfam12205
Location:649 → 763

GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term

pfam12796
Location:137 → 229

Ank_2; Ankyrin repeats (3 copies)

pfam16559
Location:418 → 482

GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor
NM_014030.4 → NP_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:137 → 165

ANK; ANK repeat [structural motif]

cd08846
Location:1 → 111

ArfGap_GIT1; GIT1 GTPase activating protein for Arf

pfam08518
Location:328 → 356

GIT_SHD; Spa2 homology domain (SHD) of GIT

pfam12205
Location:640 → 754

GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term

pfam12796
Location:137 → 229

Ank_2; Ankyrin repeats (3 copies)

pfam16559
Location:409 → 473

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

29573475..29589648 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q59FC3

Conserved Domains (7) summary

smart00105
Location:3 → 124

ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF

cd00204
Location:123 → 220

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:328 → 356

GIT_SHD; Spa2 homology domain (SHD) of GIT

pfam12205
Location:640 → 761

GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term

pfam12796
Location:137 → 229

Ank_2; Ankyrin repeats (3 copies)

pfam16559
Location:409 → 473

GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor

sd00045
Location:137 → 165

ANK; ANK repeat [structural motif]
XM_011524684.3 → XP_011522986.1 ARF GTPase-activating protein GIT1 isoform X1

UniProtKB/TrEMBL

Q59FC3

Conserved Domains (7) summary

smart00105
Location:3 → 124

ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF

cd00204
Location:123 → 220

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:337 → 365

GIT_SHD; Spa2 homology domain (SHD) of GIT

pfam12205
Location:649 → 770

GIT1_C; G protein-coupled receptor kinase-interacting protein 1 C term

pfam12796
Location:137 → 229

Ank_2; Ankyrin repeats (3 copies)

pfam16559
Location:418 → 482

GIT_CC; GIT coiled-coil Rho guanine nucleotide exchange factor

sd00045
Location:137 → 165

ANK; ANK repeat [structural motif]
XM_047435858.1 → XP_047291814.1 ARF GTPase-activating protein GIT1 isoform X3