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GRK1 (G protein-coupled receptor kinase 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6011
Gene nameGene Name - the full gene name approved by the HGNC.
G protein-coupled receptor kinase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GRK1
SynonymsGene synonyms aliases
GPRK1, RHOK, RK
ChromosomeChromosome number
13
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q34
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs570621429 C>A,T Pathogenic Missense variant, coding sequence variant
rs777094000 T>A Pathogenic Coding sequence variant, missense variant
rs1594580431 C>T Likely-pathogenic Stop gained, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT714089 hsa-miR-148a-5p HITS-CLIP 19536157
MIRT714088 hsa-miR-5584-3p HITS-CLIP 19536157
MIRT714087 hsa-miR-5009-3p HITS-CLIP 19536157
MIRT714086 hsa-miR-3124-3p HITS-CLIP 19536157
MIRT714085 hsa-miR-4437 HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0004672 Function Protein kinase activity TAS 1656454, 9147475
GO:0004703 Function G protein-coupled receptor kinase activity IEA
GO:0005524 Function ATP binding IEA
GO:0007601 Process Visual perception IEA
GO:0008277 Process Regulation of G protein-coupled receptor signaling pathway TAS 1656454
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q15835
Protein name Rhodopsin kinase GRK1 (RK) (EC 2.7.11.14) (G protein-coupled receptor kinase 1)
Protein function Retina-specific kinase involved in the signal turnoff via phosphorylation of rhodopsin (RHO), the G protein- coupled receptor that initiates the phototransduction cascade (PubMed:15946941). This rapid desensitization is essential for scotopic vi
PDB 5AFP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00615 RGS
57 → 174
Regulator of G protein signaling domain
 Domain
PF00069 Pkinase
190 → 455
Protein kinase domain
 Domain
Sequence
Sequence length 563
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Chemokine signaling pathway
Endocytosis
Phototransduction 		  Inactivation, recovery and regulation of the phototransduction cascade
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Congenital stationary night blindness Congenital stationary night blindness rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911, rs122456133, rs122456134, rs122456135, rs2147483647, rs104893789, rs104893790, rs104893796, rs121918582, rs104893740, rs80359870, rs387906862, rs786205113, rs772011426, rs281875234, rs794726685, rs387907138, rs773126191, rs770066665, rs794726686, rs397509379, rs397509380, rs61750168, rs281865186, rs281865194, rs150115958, rs786205852, rs786205853, rs786205854, rs778390089, rs869312176, rs879253773, rs879253774, rs886039559, rs886039560, rs886043488, rs1057518829, rs104893793, rs1553186509, rs61751398, rs781463257, rs531851447, rs770380556, rs748046539, rs1555418784, rs1555424166, rs781610444, rs1555424849, rs1555966753, rs1555967281, rs1557106008, rs1557107192, rs1557107417, rs1557108147, rs1557109796, rs1557109912, rs1557110046, rs1557110192, rs1557110499, rs1557110988, rs372529012, rs374913800, rs1410075831, rs766780281, rs1555967031, rs1566945534, rs777989874, rs782581701, rs1485132228, rs1567728372, rs1567725425, rs150441866, rs1358925739, rs779821510, rs1590998813, rs1594580431, rs777168556, rs763546583, rs1290420698, rs765645888, rs1596029830, rs1602180478, rs1602180791, rs1602181006, rs1602181043, rs1602181253, rs1602627593, rs782740998, rs1602630650, rs1602639607, rs1602641426, rs1602644716, rs1602658505, rs1602628429, rs2065841382, rs1596017653, rs769355168, rs1578278438, rs984572250, rs775166854, rs2065717735
Myopia Severe myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Oguchi disease Oguchi disease, OGUCHI DISEASE 2, Oguchi Disease 1 rs587776778, rs777094000, rs570621429, rs201153410, rs397514681, rs397514682, rs587777209, rs1594580431, rs1574942567, rs370713047, rs748680704, rs2049829612, rs2049830881, rs761138317, rs753470112, rs2049858551, rs1441327018, rs2049935254, rs995065177, rs137877289, rs765070399, rs2049992612, rs2049994399 19753316, 9020843, 17070587, 9020843
Unknown
Disease name Disease term dbSNP ID References
Hypoplasia of optic disc Hypoplasia of optic disc
Night blindness Night blindness, congenital stationary
Nyctalopia Nyctalopia
Strabismus Strabismus

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