ENSG00000185974


Homo sapiens

Features
Gene ID: ENSG00000185974
  
Biological name :GRK1
  
Synonyms : G protein-coupled receptor kinase 1 / GRK1 / Q15835
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: 1
Band: q34
Gene start: 113667155
Gene end: 113737735
  
Corresponding Affymetrix probe sets: 208041_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000334876
NCBI entrez gene - 6011     See in Manteia.
OMIM - 180381
RefSeq - NM_002929
RefSeq - XM_017020684
RefSeq Peptide - NP_002920
swissprot - Q15835
Ensembl - ENSG00000185974
  
Related genetic diseases (OMIM): 613411 - Oguchi disease-2, 613411
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 grk1aENSDARG00000058803Danio rerio
 Grk1ENSMUSG00000031450Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GRK6 / P43250 / G protein-coupled receptor kinase 6ENSG0000019805547
GRK4 / P32298 / G protein-coupled receptor kinase 4ENSG0000012538847
GRK5 / P34947 / G protein-coupled receptor kinase 5ENSG0000019887347
GRK7 / Q8WTQ7 / G protein-coupled receptor kinase 7ENSG0000011412445
GRK2 / P25098 / G protein-coupled receptor kinase 2ENSG0000017302033
GRK3 / P35626 / G protein-coupled receptor kinase 3ENSG0000010007732


Protein motifs (from Interpro)
Interpro ID Name
 IPR000239  GPCR kinase
 IPR000719  Protein kinase domain
 IPR000961  AGC-kinase, C-terminal
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR016137  RGS domain
 IPR017441  Protein kinase, ATP binding site
 IPR032965  Rhodopsin kinase
 IPR036305  RGS domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0008277 regulation of G-protein coupled receptor protein signaling pathway TAS
 biological_processGO:0016056 rhodopsin mediated signaling pathway TAS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0022400 regulation of rhodopsin mediated signaling pathway IDA
 biological_processGO:0046777 protein autophosphorylation IMP
 biological_processGO:0050896 response to stimulus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0097381 photoreceptor disc membrane TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity TAS
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0004703 G-protein coupled receptor kinase activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0050254 rhodopsin kinase activity IDA


Pathways (from Reactome)
Pathway description
Inactivation, recovery and regulation of the phototransduction cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0007642 Congenital stationary night blindness 
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 HP:0007663 Decreased central vision 
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 HP:0007766 Hypoplastic optic disks 
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 HP:0008002 Macular pigmentary changes 
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 HP:0011003 Severe Myopia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000109047 RCVRN / P35243 / recoverin  / complex / reaction
 ENSG00000163914 RHO / P08100 / rhodopsin  / reaction






 

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