Gene Gene information from NCBI Gene database.
Entrez ID 28964
Gene name GIT ArfGAP 1
Gene symbol GIT1
Synonyms (NCBI Gene)
p95-APP1
Chromosome 17
Chromosome location 17q11.2
miRNA miRNA information provided by mirtarbase database.
181
miRTarBase ID miRNA Experiments Reference
MIRT025756 hsa-miR-7-5p Microarray 19073608
MIRT042200 hsa-miR-484 CLASH 23622248
MIRT054625 hsa-miR-149-5p ImmunofluorescenceImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot 24608434
MIRT054625 hsa-miR-149-5p ImmunofluorescenceImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot 24608434
MIRT438167 hsa-miR-491-5p ImmunofluorescenceImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 24335959
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
84
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0001771 Process Immunological synapse formation IEA
GO:0001957 Process Intramembranous ossification IEA
GO:0001957 Process Intramembranous ossification ISS
GO:0005096 Function GTPase activator activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608434 4272 ENSG00000108262
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2X7
Protein name ARF GTPase-activating protein GIT1 (ARF GAP GIT1) (Cool-associated and tyrosine-phosphorylated protein 1) (CAT-1) (CAT1) (G protein-coupled receptor kinase-interactor 1) (GRK-interacting protein 1) (p95-APP1)
Protein function GTPase-activating protein for ADP ribosylation factor family members, including ARF1. Multidomain scaffold protein that interacts with numerous proteins and therefore participates in many cellular functions, including receptor internalization, f
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01412 ArfGap 1 120 Putative GTPase activating protein for Arf Domain
PF12796 Ank_2 137 229 Ankyrin repeats (3 copies) Repeat
PF08518 GIT_SHD 264 292 Spa2 homology domain (SHD) of GIT Family
PF08518 GIT_SHD 328 356 Spa2 homology domain (SHD) of GIT Family
PF16559 GIT_CC 409 474 GIT coiled-coil Rho guanine nucleotide exchange factor Coiled-coil
PF12205 GIT1_C 638 754 G protein-coupled receptor kinase-interacting protein 1 C term Domain
Sequence
MSRKGPRAEVCADCSAPDPGWASISRGVLVCDECCSVHRSLGRHISIVKHLRHSAWPPTL
LQMVHTLASNGANSIWEHSLLDPAQVQSGRRKANPQDKVHPIKSEFIRAKYQMLAFVHKL

PCRDDDGVTAKDLSKQLHSSVRTGNLETCLRLLSLGAQANFFHPEKGTTPLHVAAKAGQT
LQAELLVVYGADPGSPDVNGRTPIDYARQAGHHELAERLVECQYELTDR
LAFYLCGRKPD
HKNGHYIIPQMADSLDLSELAKAAKKKLQALSNRLFEELAMDVYDEVDRRENDAVWLATQ
NHSTLVTERSAVPFLPVNPEYSATRNQGRQKLARFNAREFATLIIDILSEAKRRQQGKSL
SSPTDNLELSLRSQSDLDDQHDYDSVASDEDTDQEPLRSTGATRSNRARSMDSSDLSDGA
VTLQEYLELKKALATSEAKVQQLMKVNSSLSDELRRLQREIHKLQAENLQLRQP
PGPVPT
PPLPSERAEHTPMAPGGSTHRRDRQAFSMYEPGSALKPFGGPPGDELTTRLQPFHSTELE
DDAIYSVHVPAGLYRIRKGVSASAVPFTPSSPLLSCSQEGSRHTSKLSRHGSGADSDYEN
TQSGDPLLGLEGKRFLELGKEEDFHPELESLDGDLDPGLPSTEDVILKTEQVTKNIQELL
RAAQEFKHDSFVPCSEKIHLAVTEMASLFPKRPALEPVRSSLRLLNASAYRLQSECRKTV
PPEPGAPVDFQLLTQQVIQCAYDIAKAAKQLVTI
TTREKKQ
Sequence length 761
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis
Regulation of actin cytoskeleton
Epithelial cell signaling in Helicobacter pylori infection
  Ephrin signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
16
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Uncertain significance rs2150826248 RCV001843818
GIT1-related disorder Likely benign; Benign rs2033389151, rs369202718, rs148402352, rs199698909, rs544991985, rs201810676, rs2033121800, rs113144830, rs555497918, rs144464404, rs141462052, rs147244911, rs768782252, rs78783041, rs182492370 RCV003921500
RCV003929767
RCV003904128
RCV003951879
RCV003961771
RCV003961836
RCV003917220
RCV003931483
RCV003939572
RCV003914495
RCV003926897
RCV003949227
RCV003967106
RCV003915996
RCV003968115
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adrenocortical Carcinoma Associate 36994687
Alzheimer Disease Associate 32233750
Attention Deficit Disorder with Hyperactivity Associate 22897819, 28948080, 33115496
Breast Neoplasms Associate 24608434, 35318302
Carcinogenesis Associate 37943661
Carcinoma Hepatocellular Associate 23325601, 25794709, 26188902
Carcinoma Hepatocellular Stimulate 36994687
Carcinoma Non Small Cell Lung Associate 26283050, 26462147
Carcinoma Squamous Cell Associate 36994687
Colorectal Neoplasms Associate 23325601, 24040099, 25794709