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

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 name Gene Name - the full gene name approved by the HGNC.	G protein-coupled receptor kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GRK1
Synonyms (NCBI Gene) Gene synonyms aliases	GPRK1, RHOK, RK
Chromosome Chromosome number	13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	13q34
Summary Summary 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

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(11)

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
GO:0016056	Process	Rhodopsin mediated signaling pathway	TAS	1656454, 9147475
GO:0022400	Process	Regulation of rhodopsin mediated signaling pathway	IDA	15946941
GO:0022400	Process	Regulation of rhodopsin mediated signaling pathway	TAS
GO:0046777	Process	Protein autophosphorylation	IMP	15946941
GO:0050254	Function	Rhodopsin kinase activity	IDA	15946941
GO:0097381	Component	Photoreceptor disc membrane	TAS

MIM	HGNC	e!Ensembl
180381	10013	ENSG00000185974

Protein

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

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

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Congenital stationary night blindness	Congenital stationary night blindness	rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911 View all (100 more)
Myopia	Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
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 View all (8 more)	19753316, 9020843, 17070587

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Oguchi Disease	Oguchi disease-2, Oguchi disease			GenCC

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining
Carcinoma Embryonal	Associate	36713456
Carcinoma Hepatocellular	Associate	34199025
Encephalitis	Associate	16478881
Glut1 Deficiency Syndrome	Associate	16478881
Oguchi disease	Associate	16319817, 19753316, 22419846, 22959359, 35246075, 35549688
Retinal Diseases	Associate	16319817

GRK1 (G protein-coupled receptor kinase 1)