• Gene id: 6011

Gene Summary

• Gene Symbol: GRK1   Gene   UCSC   Ensembl
• Aliases: GPRK1, RHOK, RK
• Gene name: G protein-coupled receptor kinase 1
• Alternate names: rhodopsin kinase GRK1, rhodopsin kinase,
• Gene location: 13q34 (113645770: 113737735)     Exons: 8     NC_000013.11
• Gene summary(Entrez): This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to caus
• OMIM: 608252

Protein Summary

• Protein general information: Q15835  
  • Name: Rhodopsin kinase GRK1 (RK) (EC 2.7.11.14) (G protein coupled receptor kinase 1)
  • Length: 563  
  • Mass: 63526
  • Tissue specificity: Retinal-specific. Expressed in rods and cones cells. {ECO
• Sequence:

  MDFGSLETVVANSAFIAARGSFDGSSSQPSRDKKYLAKLKLPPLSKCESLRDSLSLEFESVCLEQPIGKKLFQQF
  LQSAEKHLPALELWKDIEDYDTADNDLQPQKAQTILAQYLDPQAKLFCSFLDEGIVAKFKEGPVEIQDGLFQPLL
  QATLAHLGQAPFQEYLGSLYFLRFLQWKWLEAQPMGEDWFLDFRVLGKGGFGEVSACQMKATGKLYACKKLNKKR
  LKKRKGYQGAMVEKKILMKVHSRFIVSLAYAFETKADLCLVMTIMNGGDIRYHIYNVNEENPGFPEPRALFYTAQ
  IICGLEHLHQRRIVYRDLKPENVLLDNDGNVRISDLGLAVELLDGQSKTKGYAGTPGFMAPELLQGEEYDFSVDY
  FALGVTLYEMIAARGPFRARGEKVENKELKHRIISEPVKYPDKFSQASKDFCEALLEKDPEKRLGFRDETCDKLR
  AHPLFKDLNWRQLEAGMLMPPFIPDSKTVYAKDIQDVGAFSTVKGVAFDKTDTEFFQEFATGNCPIPWQEEMIET
  GIFGELNVWRSDGQMPDDMKGISGGSSSSSKSGMCLVS

• Structural information:
  • Protein Domains: (58..17-)
    (/note="RGS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00171-)
    (190..45-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (456..52-)
    (/note="AGC-kinase-C-terminal")
  • Interpro: IPR000961  IPR000239  IPR032965  IPR037716  IPR011009   IPR000719  IPR017441  IPR016137  IPR036305  IPR008271  
  • Prosite: PS51285 PS00107 PS50011 PS00108 PS50132
  • CDD: cd05608
  • PDB: 5AFP
  • PDBsum: 5AFP
  • STRING: ENSP00000334876
• Other Databases: GeneCards:  GRK1  Malacards:  GRK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050254	rhodopsin kinase activity	IDA	molecular function
GO:0022400	regulation of rhodopsin mediated signaling pathway	IDA	biological process
GO:0046777	protein autophosphorylation	IMP	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004703	G protein-coupled receptor kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0022400	regulation of rhodopsin mediated signaling pathway	IEA	biological process
GO:0050254	rhodopsin kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0004672	protein kinase activity	TAS	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0007601	visual perception	TAS	biological process
GO:0008277	regulation of G protein-coupled receptor signaling pathway	TAS	biological process
GO:0016056	rhodopsin mediated signaling pathway	TAS	biological process
GO:0016056	rhodopsin mediated signaling pathway	TAS	biological process
GO:0050254	rhodopsin kinase activity	IEA	molecular function
GO:0022400	regulation of rhodopsin mediated signaling pathway	TAS	biological process
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04062	Chemokine signaling pathway
hsa04744	Phototransduction

Diseases

Associated diseases	References
Congenital stationary night blindness	KEGG:H00787
Congenital stationary night blindness	KEGG:H00787
Night blindness	PMID:9020843
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq