• Gene id: 28964

Gene Summary

• Gene Symbol: GIT1   Gene   UCSC   Ensembl
• Gene name: GIT ArfGAP 1
• Alternate names: ARF GTPase-activating protein GIT1, ARF GAP GIT1, CAT-1, CAT1, G protein-coupled receptor kinase interacting ArfGAP 1, G protein-coupled receptor kinase-interactor 1, GRK-interacting protein 1, cool-associated and tyrosine-phosphorylated protein 1,
• Gene location: 17q11.2 (29589647: 29573474)     Exons: 21     NC_000017.11
• OMIM: 608434

Protein Summary

• Protein general information: Q9Y2X7  
  • 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)
  • Length: 761  
  • Mass: 84341
• Sequence:

  MSRKGPRAEVCADCSAPDPGWASISRGVLVCDECCSVHRSLGRHISIVKHLRHSAWPPTLLQMVHTLASNGANSI
  WEHSLLDPAQVQSGRRKANPQDKVHPIKSEFIRAKYQMLAFVHKLPCRDDDGVTAKDLSKQLHSSVRTGNLETCL
  RLLSLGAQANFFHPEKGTTPLHVAAKAGQTLQAELLVVYGADPGSPDVNGRTPIDYARQAGHHELAERLVECQYE
  LTDRLAFYLCGRKPDHKNGHYIIPQMADSLDLSELAKAAKKKLQALSNRLFEELAMDVYDEVDRRENDAVWLATQ
  NHSTLVTERSAVPFLPVNPEYSATRNQGRQKLARFNAREFATLIIDILSEAKRRQQGKSLSSPTDNLELSLRSQS
  DLDDQHDYDSVASDEDTDQEPLRSTGATRSNRARSMDSSDLSDGAVTLQEYLELKKALATSEAKVQQLMKVNSSL
  SDELRRLQREIHKLQAENLQLRQPPGPVPTPPLPSERAEHTPMAPGGSTHRRDRQAFSMYEPGSALKPFGGPPGD
  ELTTRLQPFHSTELEDDAIYSVHVPAGLYRIRKGVSASAVPFTPSSPLLSCSQEGSRHTSKLSRHGSGADSDYEN
  TQSGDPLLGLEGKRFLELGKEEDFHPELESLDGDLDPGLPSTEDVILKTEQVTKNIQELLRAAQEFKHDSFVPCS
  EKIHLAVTEMASLFPKRPALEPVRSSLRLLNASAYRLQSECRKTVPPEPGAPVDFQLLTQQVIQCAYDIAKAAKQ
  LVTITTREKKQ

• Structural information:
  • Protein Domains: (1..12-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR037278  IPR001164   IPR038508  IPR032352  IPR022018  IPR013724  
  • Prosite: PS50297 PS50088 PS50115
  • STRING: ENSP00000378338
• Other Databases: GeneCards:  GIT1  Malacards:  GIT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032465	regulation of cytokinesis	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008277	regulation of G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048013	ephrin receptor signaling pathway	IEA	biological process
GO:0099171	presynaptic modulation of chemical synaptic transmission	IEA	biological process
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0044305	calyx of Held	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04810	Regulation of actin cytoskeleton
hsa05120	Epithelial cell signaling in Helicobacter pylori infection

Diseases

Associated diseases	References
Attention deficit hyperactivity disorder	PMID:21499268
Huntington's disease	PMID:15383276
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray