GIT1
ARF GTPase-activating protein GIT1
Also known as: GIT1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y2X7
- Gene
- GIT1
- Ensembl
- ENSG00000108262
- Chromosome
- 17
- Canonical length
- 761 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Focal adhesion sites,Mitochondria,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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, Jul 2025]
Canonical amino-acid sequenceUniProt
761 residues, UniProt reviewed canonical sequence.
>Q9Y2X7|GIT1
1 MSRKGPRAEV CADCSAPDPG WASISRGVLV CDECCSVHRS LGRHISIVKH LRHSAWPPTL
61 LQMVHTLASN GANSIWEHSL LDPAQVQSGR RKANPQDKVH PIKSEFIRAK YQMLAFVHKL
121 PCRDDDGVTA KDLSKQLHSS VRTGNLETCL RLLSLGAQAN FFHPEKGTTP LHVAAKAGQT
181 LQAELLVVYG ADPGSPDVNG RTPIDYARQA GHHELAERLV ECQYELTDRL AFYLCGRKPD
241 HKNGHYIIPQ MADSLDLSEL AKAAKKKLQA LSNRLFEELA MDVYDEVDRR ENDAVWLATQ
301 NHSTLVTERS AVPFLPVNPE YSATRNQGRQ KLARFNAREF ATLIIDILSE AKRRQQGKSL
361 SSPTDNLELS LRSQSDLDDQ HDYDSVASDE DTDQEPLRST GATRSNRARS MDSSDLSDGA
421 VTLQEYLELK KALATSEAKV QQLMKVNSSL SDELRRLQRE IHKLQAENLQ LRQPPGPVPT
481 PPLPSERAEH TPMAPGGSTH RRDRQAFSMY EPGSALKPFG GPPGDELTTR LQPFHSTELE
541 DDAIYSVHVP AGLYRIRKGV SASAVPFTPS SPLLSCSQEG SRHTSKLSRH GSGADSDYEN
601 TQSGDPLLGL EGKRFLELGK EEDFHPELES LDGDLDPGLP STEDVILKTE QVTKNIQELL
661 RAAQEFKHDS FVPCSEKIHL AVTEMASLFP KRPALEPVRS SLRLLNASAY RLQSECRKTV
721 PPEPGAPVDF QLLTQQVIQC AYDIAKAAKQ LVTITTREKK QLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GIT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 128 nTPM
Expression across tissuesHPA
Tissue
- hippocampal formation: 128 nTPM
- cerebral cortex: 109 nTPM
- basal ganglia: 95 nTPM
- amygdala: 94 nTPM
- testis: 83 nTPM
- cerebellum: 53 nTPM
Single-cell type
- late spermatids: 134 nCPM
- late primary spermatocytes: 99 nCPM
- early spermatids: 98 nCPM
- vascular endothelial cells: 51 nCPM
- lymphatic endothelial cells: 50 nCPM
- schwann cells: 48 nCPM
Immune cell
- intermediate monocyte: 2.5 nTPM
- NK-cell: 2.4 nTPM
- myeloid DC: 2.2 nTPM
- memory CD8 T-cell: 2.1 nTPM
- gdT-cell: 1.9 nTPM
- memory CD4 T-cell: 1.9 nTPM
Brain region
- cerebral cortex: 267 nTPM
- hippocampal formation: 225 nTPM
- basal ganglia: 199 nTPM
- amygdala: 179 nTPM
- white matter: 139 nTPM
- thalamus: 121 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GIT1.
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 127 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- GIT1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.22
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.06
- DepMap mean gene effect
- -0.18
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain development
- cell redox homeostasis
- cellular response to epidermal growth factor stimulus
- cellular response to lipopolysaccharide
- dendritic spine development
- ephrin receptor signaling pathway
- immunological synapse formation
- intramembranous ossification
- locomotory behavior
- motor learning
- negative regulation of glycolytic process
- negative regulation of inflammatory response to wounding
- negative regulation of interleukin-1 beta production
- neurotransmitter receptor localization to postsynaptic specialization membrane
- positive regulation of microtubule nucleation
- positive regulation of receptor catabolic process
- presynaptic modulation of chemical synaptic transmission
- regulation of ARF protein signal transduction
- regulation of cytokinesis
- regulation of G protein-coupled receptor signaling pathway
- regulation of synaptic vesicle exocytosis
- synaptic vesicle recycling
- negative regulation of ARF protein signal transduction
Molecular functions
- gamma-tubulin binding
- GTPase activator activity
- identical protein binding
- protein phosphatase binding
- protein tyrosine kinase binding
- protein-containing complex binding
- scaffold protein binding
- small GTPase binding
- structural constituent of postsynaptic specialization
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Arf GTPase activating protein
- Ankyrin repeat
- GIT, Spa2 homology (SHD) domain
- ARF GTPase-activating protein GIT1, C-terminal
- Arf GTPase-activating protein GIT1/2, coiled-coil domain
- Ankyrin repeat-containing domain superfamily
- ARFGAP/RecO-like zinc finger
- ArfGAP domain superfamily
- ARF GTPase-activating protein Git-like
- Putative GTPase activating protein for Arf
- Spa2 homology domain (SHD) of GIT
- G protein-coupled receptor kinase-interacting protein 1 C term
- Ankyrin repeats (3 copies)
- GIT coiled-coil Rho guanine nucleotide exchange factor
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GIT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GIT1 as an antibody target. Whether an autoantibody or antibody against GIT1 could matter depends on whether native GIT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GIT1 is annotated at the cell surface, where native GIT1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GIT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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