Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
28964
Gene name Gene Name - the full gene name approved by the HGNC.
GIT ArfGAP 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GIT1
Synonyms (NCBI Gene) Gene synonyms aliases
p95-APP1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q11.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025756 hsa-miR-7-5p Microarray 19073608
MIRT042200 hsa-miR-484 CLASH 23622248
MIRT054625 hsa-miR-149-5p Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 24608434
MIRT054625 hsa-miR-149-5p Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 24608434
MIRT438167 hsa-miR-491-5p Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 24335959
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001957 Process Intramembranous ossification ISS
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 15182672, 15383276, 16628223, 16717130, 16787945, 18369319, 19041750, 21295525, 21706016, 21900206, 23108400, 23455922, 25852190, 31980649
GO:0005739 Component Mitochondrion IDA
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608434 4272 ENSG00000108262
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention Deficit Disorder, Attention deficit hyperactivity disorder rs786205019 21499268
Associations from Text Mining
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