GIT1 (GIT ArfGAP 1)

2012-12-01  

Identity

HGNC
GIT1
LOCATION
17q11.2
LOCUSID
28964
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 28964
MIM: 608434
HGNC: 4272
Ensembl: ENSG00000108262

Variants:

dbSNP: 28964
ClinVar: 28964
TCGA: ENSG00000108262
COSMIC: GIT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108262ENST00000225394Q9Y2X7
ENSG00000108262ENST00000335356E7EVC2
ENSG00000108262ENST00000394869Q9Y2X7
ENSG00000108262ENST00000577466K7EIX6
ENSG00000108262ENST00000578266J3QL89
ENSG00000108262ENST00000578670J3QQI0
ENSG00000108262ENST00000579937J3QRU8
ENSG00000108262ENST00000581348A0A0C4DGN6
ENSG00000108262ENST00000583413K7EN79
ENSG00000108262ENST00000585148J3QLH1

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Regulation of actin cytoskeletonKEGGko04810
Epithelial cell signaling in Helicobacter pylori infectionKEGGko05120
Regulation of actin cytoskeletonKEGGhsa04810
Epithelial cell signaling in Helicobacter pylori infectionKEGGhsa05120
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
EPH-Ephrin signalingREACTOMER-HSA-2682334
Ephrin signalingREACTOMER-HSA-3928664

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
153832762004A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease.145
165980762006The multifunctional GIT family of proteins.111
118961972002GIT1 functions in a motile, multi-molecular signaling complex that regulates protrusive activity and cell migration.88
243359592014miRNA-491-5p and GIT1 serve as modulators and biomarkers for oral squamous cell carcinoma invasion and metastasis.68
246084342014MicroRNA-149 targets GIT1 to suppress integrin signaling and breast cancer metastasis.53
108969542000The GIT family of ADP-ribosylation factor GTPase-activating proteins. Functional diversity of GIT2 through alternative splicing.49
174290732007Induction of vascular permeability: beta PIX and GIT1 scaffold the activation of extracellular signal-regulated kinase by PAK.39
214992682011GIT1 is associated with ADHD in humans and ADHD-like behaviors in mice.39
159231892005GIT1 is a scaffold for ERK1/2 activation in focal adhesions.38
145230242003GIT1 mediates Src-dependent activation of phospholipase Cgamma by angiotensin II and epidermal growth factor.35

Citation

Dessen P

GIT1 (GIT ArfGAP 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53101/git1