Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6011
Gene name	G protein-coupled receptor kinase 1
Gene symbol	GRK1
Synonyms (NCBI Gene)	GPRK1RHOKRK
Chromosome	13
Chromosome location	13q34
Summary	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

Show/Hide all (3)

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

Show/Hide all (70)

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
MIRT714084	hsa-miR-3685	HITS-CLIP	19536157
MIRT714083	hsa-miR-384	HITS-CLIP	19536157
MIRT495798	hsa-miR-4695-5p	PAR-CLIP	23446348
MIRT495797	hsa-miR-4705	PAR-CLIP	23446348
MIRT495796	hsa-miR-4459	PAR-CLIP	23446348
MIRT495795	hsa-miR-2467-5p	PAR-CLIP	23446348
MIRT495794	hsa-miR-873-5p	PAR-CLIP	23446348
MIRT495793	hsa-miR-1286	PAR-CLIP	23446348
MIRT495792	hsa-miR-4722-5p	PAR-CLIP	23446348
MIRT495790	hsa-miR-5587-5p	PAR-CLIP	23446348
MIRT495798	hsa-miR-4695-5p	PAR-CLIP	22291592
MIRT495797	hsa-miR-4705	PAR-CLIP	22291592
MIRT495796	hsa-miR-4459	PAR-CLIP	22291592
MIRT495795	hsa-miR-2467-5p	PAR-CLIP	22291592
MIRT495794	hsa-miR-873-5p	PAR-CLIP	22291592
MIRT495793	hsa-miR-1286	PAR-CLIP	22291592
MIRT495792	hsa-miR-4722-5p	PAR-CLIP	22291592
MIRT495791	hsa-miR-7106-3p	PAR-CLIP	22291592
MIRT495790	hsa-miR-5587-5p	PAR-CLIP	22291592
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
MIRT714084	hsa-miR-3685	HITS-CLIP	19536157
MIRT714083	hsa-miR-384	HITS-CLIP	19536157
MIRT495798	hsa-miR-4695-5p	PAR-CLIP	23446348
MIRT495797	hsa-miR-4705	PAR-CLIP	23446348
MIRT495796	hsa-miR-4459	PAR-CLIP	23446348
MIRT495795	hsa-miR-2467-5p	PAR-CLIP	23446348
MIRT495794	hsa-miR-873-5p	PAR-CLIP	23446348
MIRT495793	hsa-miR-1286	PAR-CLIP	23446348
MIRT495792	hsa-miR-4722-5p	PAR-CLIP	23446348
MIRT495790	hsa-miR-5587-5p	PAR-CLIP	23446348
MIRT495798	hsa-miR-4695-5p	PAR-CLIP	22291592
MIRT495797	hsa-miR-4705	PAR-CLIP	22291592
MIRT495796	hsa-miR-4459	PAR-CLIP	22291592
MIRT495795	hsa-miR-2467-5p	PAR-CLIP	22291592
MIRT495794	hsa-miR-873-5p	PAR-CLIP	22291592
MIRT495793	hsa-miR-1286	PAR-CLIP	22291592
MIRT495792	hsa-miR-4722-5p	PAR-CLIP	22291592
MIRT495791	hsa-miR-7106-3p	PAR-CLIP	22291592
MIRT495790	hsa-miR-5587-5p	PAR-CLIP	22291592
MIRT1034919	hsa-miR-1273f	CLIP-seq
MIRT1034920	hsa-miR-143	CLIP-seq
MIRT1034921	hsa-miR-4264	CLIP-seq
MIRT1034922	hsa-miR-4276	CLIP-seq
MIRT1034923	hsa-miR-4534	CLIP-seq
MIRT1034924	hsa-miR-4708-5p	CLIP-seq
MIRT1034925	hsa-miR-4770	CLIP-seq
MIRT1034926	hsa-miR-4797-3p	CLIP-seq
MIRT1034927	hsa-miR-654-3p	CLIP-seq
MIRT1034928	hsa-miR-942	CLIP-seq
MIRT2006869	hsa-miR-1238	CLIP-seq
MIRT2006870	hsa-miR-4691-5p	CLIP-seq
MIRT2543189	hsa-miR-1226	CLIP-seq
MIRT2543190	hsa-miR-210	CLIP-seq
MIRT2543191	hsa-miR-338-3p	CLIP-seq
MIRT2543192	hsa-miR-4467	CLIP-seq
MIRT2543193	hsa-miR-634	CLIP-seq
MIRT2543189	hsa-miR-1226	CLIP-seq
MIRT2543190	hsa-miR-210	CLIP-seq
MIRT2543191	hsa-miR-338-3p	CLIP-seq
MIRT2543192	hsa-miR-4467	CLIP-seq
MIRT2543193	hsa-miR-634	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	TAS	1656454, 9147475
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004703	Function	G protein-coupled receptor kinase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9020843
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	IEA
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	TAS	1656454
GO:0009416	Process	Response to light stimulus	IEA
GO:0009966	Process	Regulation of signal transduction	IBA
GO:0016020	Component	Membrane	IEA
GO:0016056	Process	G protein-coupled opsin signaling pathway	TAS	1656454, 9147475
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0022400	Process	Regulation of opsin-mediated signaling pathway	IDA	15946941
GO:0022400	Process	Regulation of opsin-mediated signaling pathway	IEA
GO:0022400	Process	Regulation of opsin-mediated signaling pathway	TAS
GO:0042995	Component	Cell projection	IEA
GO:0046777	Process	Protein autophosphorylation	IMP	15946941
GO:0050254	Function	Rhodopsin kinase activity	IBA
GO:0050254	Function	Rhodopsin kinase activity	IDA	15946941
GO:0050254	Function	Rhodopsin kinase activity	IEA
GO:0050254	Function	Rhodopsin kinase activity	TAS
GO:0097381	Component	Photoreceptor disc membrane	TAS

MIM	HGNC	e!Ensembl
180381	10013	ENSG00000185974

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

Tissue specificity

TISSUE SPECIFICITY: Retinal-specific. Expressed in rods and cones cells. {ECO:0000269|PubMed:11717351}.

Sequence

MDFGSLETVVANSAFIAARGSFDGSSSQPSRDKKYLAKLKLPPLSKCESLRDSLSLEFES
VCLEQPIGKKLFQQFLQSAEKHLPALELWKDIEDYDTADNDLQPQKAQTILAQYLDPQAK
LFCSFLDEGIVAKFKEGPVEIQDGLFQPLLQATLAHLGQAPFQEYLGSLYFLRFLQWKWL
EAQPMGEDWFLDFRVLGKGGFGEVSACQMKATGKLYACKKLNKKRLKKRKGYQGAMVEKK
ILMKVHSRFIVSLAYAFETKADLCLVMTIMNGGDIRYHIYNVNEENPGFPEPRALFYTAQ
IICGLEHLHQRRIVYRDLKPENVLLDNDGNVRISDLGLAVELLDGQSKTKGYAGTPGFMA
PELLQGEEYDFSVDYFALGVTLYEMIAARGPFRARGEKVENKELKHRIISEPVKYPDKFS
QASKDFCEALLEKDPEKRLGFRDETCDKLRAHPLFKDLNWRQLEAGMLMPPFIPDSKTVY
AKDIQDVGAFSTVKGVAFDKTDTEFFQEFATGNCPIPWQEEMIETGIFGELNVWRSDGQM
PDDMKGISGGSSSSSKSGMCLVS

Sequence length

563

Interactions

View interactions

	KEGG		Reactome
	Chemokine signaling pathway Endocytosis Phototransduction		Inactivation, recovery and regulation of the phototransduction cascade

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital stationary night blindness	Likely pathogenic	rs1594580431	RCV000787607	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oguchi disease-2	Likely pathogenic; Pathogenic	rs2049829935, rs777094000, rs570621429, rs1594580431, rs370713047, rs748680704, rs2049829612, rs2049830881, rs761138317, rs753470112, rs2049858551, rs1441327018, rs2049935254, rs995065177, rs137877289 View all (3 more)	RCV003164470 RCV000013884 RCV000013886 RCV001175404 RCV001175403 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs777094000, rs748680704, rs765070399	RCV004814891 RCV004794487 RCV004813724	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GRK1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oguchi disease	Uncertain significance	ClinVar CTD, ClinGen, Disgenet, GWAS catalog, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OGUCHI DISEASE 2	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	24067103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	36713456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34199025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital stationary night blindness	Congenital stationary night blindness	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalitis	Encephalitis	LHGDN	16478881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	16478881	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	BEFREE	12601058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS 12 (disorder)	Leber Congenital Amaurosis	BEFREE	23740938		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17187367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	BEFREE	9020843, 9501174		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oguchi disease	Oguchi Disease	BEFREE	12601058, 16319817, 17070587, 17765441, 19753316, 22419846, 27511724, 9020843, 9419375, 9501174		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oguchi disease	Oguchi disease	Pubtator	16319817, 19753316, 22419846, 22959359, 35246075, 35549688	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oguchi disease	Oguchi Disease	ORPHANET_DG	19753316, 9020843		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oguchi disease	Oguchi Disease	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oguchi disease	Oguchi Disease	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oguchi Disease 1	Oguchi disease	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
OGUCHI DISEASE 2	Oguchi Disease	UNIPROT_DG	17070587, 9020843		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OGUCHI DISEASE 2	Oguchi Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OGUCHI DISEASE 2	Oguchi Disease	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal detachment	Pubtator	16319817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30280954, 9268593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10094932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

GRK1 (G protein-coupled receptor kinase 1)