1. Gene
  2. GRK1 - G protein-coupled receptor kinase 1 Gene

GRK1 - G protein-coupled receptor kinase 1 Gene

Homo sapiens

Also known as RK; RHOK; GPRK1

Gene ID: 6011 | Gene type: protein coding

About GRK1

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:113,648,199-113,737,736 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele, 228 orthologues, 7 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

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 cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008]

GRK1 Products(1)

mRNA Protein Name
NM_002929.3 NP_002920.1 rhodopsin kinase GRK1

GRK1 Protein Structure

RGS

RGS: Regulator of G protein signaling domain (58 - 174)

Pkinase

Pkinase: Protein kinase domain (194 - 443)

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  • 563 a.a.
Protein Preferred Names Protein Names

rhodopsin kinase GRK1

Related Diseases

Diseases Alias
Oguchi Disease 2

Oguchi Disease-2

CSNBO2

Night Blindness, Congenital Stationary, Oguchi Type 2

Congenital Stationary Night Blindness Oguchi Type 2

Oguchi Disease

Stationary Night Blindness, Oguchi Type

Congenital Stationary Night Blindness, Oguchi Type

Oguchi Syndrome

Oguchis Disease

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

Night Blindness

Nyctalopia

Enhanced S-Cone Syndrome

Goldmann-Favre Syndrome

ESCS

Favre Hyaloideoretinal Degeneration

Retinoschisis With Early Hemeralopia

Retinoschisis With Early Nyctalopia

Enhanced S Cone Syndrome

S-Cone Syndrome, Enhanced

Oguchi Disease 1

Oguchi Disease-1

CSNBO1

Night Blindness, Congenital Stationary, Oguchi Type 1

Congenital Stationary Night Blindness Oguchi Type 1

Oguchi Disease

Prothrombin Thrombophilia

Prothrombin G20210a Thrombophilia

Hyperprothrombinemia

Retinoschisis 1, X-Linked, Juvenile

Retinoschisis

X-Linked Retinoschisis

X-Linked Juvenile Retinoschisis

RS1

XLRS1

X-Linked Juvenile Retinoschisis 1

Xlrs

Retinoschisis, X-Linked

Rs

Congenital X-Linked Retinoschisis

Degenerative Retinoschisis

Juvenile Retinoschisis

Xjr

Retinoschisis Juvenile X-Linked 1

Retinoschisis, Juvenile, X-Linked

Retinoschisis, Degenerative

Leber Congenital Amaurosis 1

LCA1

Amaurosis Congenita Of Leber I

Lca

Retinal Blindness, Congenital

Crb

Leber Congenital Amaurosis Type I

Leber Congenital Amaurosis, Type 1

Amaurosis Congenita Of Leber, Type 1

Prolonged Electroretinal Response Suppression

Bradyopsia

PERRS

Abnormal Threshold Of Rods

Abnormal Dark Adaptation Curve

Myasthenic Syndrome, Congenital, 3a, Slow-Channel

Congenital Myasthenic Syndrome 3a

CMS3A

Congenital Myasthenic Syndrome 3a, Slow-Channel

Myasthenic Syndrome, Congenital, Type 3a, Slow-Channel

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Retinal Degeneration

Degeneration Of Retina

Retinitis Pigmentosa 45

RP45

Retinitis Pigmentosa, Type 45

Leber Congenital Amaurosis 12

LCA12

Leber Congenital Amaurosis, Type 12

Retinitis Pigmentosa 2

RP2

X-Linked Retinitis Pigmentosa 2

Xlrp2

Xlrp-2

Retinitis Pigmentosa-2

Retinitis Pigmentosa, Type 2

Fundus Albipunctatus

Retinitis Punctata Albescens

Pigmentary Retinal Dystrophy

RPA

Albipunctate Retinal Dystrophy

Lauber'S Disease

FALBI

Fa

Leber Congenital Amaurosis 10

LCA10

Leber Congenital Amaurosis, Type 10

Retinitis Pigmentosa 3

RP3

Retinitis Pigmentosa 15

Rp15

Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women

Cone-Rod Degeneration, X-Linked

Retinitis Pigmentosa Type 15

X-Linked Cone-Rod Degeneration

X-Linked Retinitis Pigmentosa 3

Xlrp3

Xlrp-3

Retinitis Pigmentosa-3

Retinitis Pigmentosa, Type 3

Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3

Color Blindness

Color Vision Defect

Blindness Color

Colour Blindness

Colour Vision Deficiency

Color Vision Deficiency

Color Vision Defects

Defective Color Vision

Vision Defect, Color

Color-Vision Disease

Dyschromatopsia

Eye Degenerative Disease
Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Stargardt Disease

Stargardt Disease 1

Stargardt Macular Dystrophy

Stargardt Disease-1

Juvenile Onset Macular Degeneration

Stargardt Macular Degeneration

Juvenile Macular Degeneration

Macular Dystrophy With Flecks, Type 1

Stgd

Fundus Flavimaculatus

Stargardt 1

Stargardts Disease

Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

Vitelliform Macular Dystrophy

Best Disease

Juvenile-Onset Vitelliform Macular Dystrophy

Macular Dystrophy, Vitelliform

Best Macular Dystrophy

Vitelliform Dystrophy

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Usher Syndrome Type 2

Ush2

Usher Syndrome Type Ii

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus GRK1 VGNC VGNC:62717
Macaca mulatta GRK1 VGNC VGNC:73160
Rattus norvegicus GRK1 RGD RGD:619712
Canis familiaris GRK1 VGNC VGNC:41501
Mus musculus GRK1 MGD MGI:1345146
Bos taurus GRK1 VGNC VGNC:29654