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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GIT1
GIT ArfGAP 1
Chromosome 17 · 17q11.2
NCBI Gene: 28964Ensembl: ENSG00000108262.17HGNC: HGNC:4272UniProt: Q59FC3
146PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of microtubule nucleationmitotic spindle poleprotein bindingmembraneneurodegenerative diseasegenetic disorderdevelopmental disorder of mental healthneoplasm
✦AI Summary

GIT1 (GIT ArfGAP 1) is a multidomain scaffold protein that functions as a GTPase-activating protein for ADP-ribosylation factor (ARF) family members 1. It regulates diverse cellular processes through protein-protein interactions and serves as a scaffold that recruits signaling proteins to specific cellular locations 1. In cell migration and adhesion, GIT1 recruits MEK1/ERK to focal adhesions via a Src-dependent pathway after EGF stimulation, promoting cell migration 2. It coordinates with myosin MYO18A and PAK2 to transport protein complexes from focal adhesions to the leading edge 3. In neuronal development, GIT1 recruits GEFs like ARHGEF7/β-PIX to synaptic membranes, locally activating RAC1 for dendritic spine morphogenesis and synapse formation 4. It also regulates GABAergic inhibitory synaptic transmission by coordinating RAC1 and PAK1 activity at GABAergic synapses 4. Clinically, GIT1 dysregulation contributes to cancer progression. MAT2B/GIT1 complexes activate MEK/ERK signaling to promote growth in liver and colon cancer 2. GIT1 has also been identified as a candidate disease gene in genetic disease studies 5, with potential involvement in neurodevelopmental disorders through dysregulated MAPK and Rac signaling 4.

Sources cited
1
GIT1 functions as a GTPase activating protein (GAP) for ARF family members and serves as a multidomain scaffold protein
PMID: 28981399
2
MAT2B and GIT1 form a scaffold complex that recruits and activates MEK1/ERK to promote growth in liver and colon cancer
PMID: 23325601
3
GIT1 functions in a complex with MYO18A, PAK2, and βPIX to transport protein complexes from focal adhesions to the leading edge
PMID: 28942352
4
GIT1 signaling involves small GTPases and MAPK pathways dysregulated in neurodevelopmental disorders and cancer; GIT1 recruits GEFs for RAC1 activation in synaptic development
PMID: 35712080
5
GIT1 identified as a candidate disease gene in genetic disease screening studies
PMID: 28600779
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.32Weak
genetic disorderOpen Targets
0.19Weak
developmental disorder of mental healthOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
attention deficit hyperactivity disorderOpen Targets
0.08Suggestive
Deltaretrovirus InfectionsOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
chronic lymphocytic leukemiaOpen Targets
0.08Suggestive
medullary thyroid gland carcinomaOpen Targets
0.07Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
rheumatoid arthritisOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.07Suggestive
lung cancerOpen Targets
0.07Suggestive
low tension glaucomaOpen Targets
0.07Suggestive
Pathogenic Variants2
NM_014030.4(GIT1):c.1094-1_1096delPathogenic
GIT1-related disorder
★☆☆☆2025
NM_014030.4(GIT1):c.1541dup (p.Ala515fs)Pathogenic
GIT1-related disorder
★☆☆☆2025→ Residue 515
View on ClinVar ↗
Related Genes
GRK4Protein interaction100%GRK5Protein interaction100%GRK6Protein interaction100%PXNProtein interaction100%LPXNProtein interaction100%SCRIBProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
86%
Ovary
67%
Heart
66%
Bone Marrow
63%
Liver
28%
Gene Interaction Network
Click a node to explore
GIT1GRK4GRK5GRK6PXNLPXNSCRIB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q59FC3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.10–0.26]
RankingsWhere GIT1 stands among ~20K protein-coding genes
  • #3,106of 20,598
    Most Researched146 · top quartile
  • #4,273of 5,498
    Most Pathogenic Variants2
  • #815of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedGIT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
MYO18A: An unusual myosin.
PMID: 28942352
Adv Biol Regul · 2018
0.90
3
The Arf-GAP and protein scaffold Cat1/Git1 as a multifaceted regulator of cancer progression.
PMID: 28981399
Small GTPases · 2020
0.80
4
MAT2B-GIT1 interplay activates MEK1/ERK 1 and 2 to induce growth in human liver and colon cancer.
PMID: 23325601
Hepatology · 2013
0.70
5
Association study of GIT1 gene with attention-deficit hyperactivity disorder in Brazilian children and adolescents.
PMID: 22897819
Genes Brain Behav · 2012
0.60