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Reviewed, UniProtKB/Swiss-Prot Q15835 (RK_HUMAN)

Last modified June 16, 2009. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Rhodopsin kinase
      Short name=RK
    EC=2.7.11.14
Alternative name(s):
    G protein-coupled receptor kinase 1
Gene names
Name: GRK1
Synonyms: RHOK
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length563 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Phosphorylates rhodopsin thereby initiating its deactivation.

Catalytic activity

ATP + [rhodopsin] = ADP + [rhodopsin] phosphate.

Subcellular location

Membrane; Lipid-anchor.

Tissue specificity

Retina and pineal gland By similarity.

Post-translational modification

Autophosphorylated By similarity.

Farnesylation is required for full activity By similarity.

Involvement in disease

Defects in GRK1 are a cause of congenital stationary night blindness Oguchi type (CSNBO) [MIM:258100]; also known as Oguchi disease. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. CSNBO is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation. Ref.5 Ref.6

Sequence similarities

Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily.

Contains 1 AGC-kinase C-terminal domain.

Contains 1 protein kinase domain.

Contains 1 RGS domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 560560Rhodopsin kinase
PRO_0000024375
Propeptide561 – 5633Removed in mature form By similarity
PRO_0000024376

Regions

Domain58 – 175118RGS
Domain190 – 455266Protein kinase
Domain456 – 52166AGC-kinase C-terminal
Nucleotide binding196 – 2049ATP By similarity
Region1 – 189189N-terminal
Region456 – 563108C-terminal

Sites

Active site3171Proton acceptor By similarity
Binding site2191ATP By similarity

Amino acid modifications

Modified residue211Phosphoserine; by autocatalysis By similarity
Modified residue4911Phosphoserine; by autocatalysis By similarity
Modified residue4921Phosphothreonine; by autocatalysis By similarity
Modified residue5601Cysteine methyl ester By similarity
Lipidation5601S-farnesyl cysteine By similarity

Natural variations

Natural variant1361E → Q in one patient with autosomal dominant retinitis pigmentosa; probably not pathogenic. Ref.4
VAR_008283
Natural variant2981T → M in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance. Ref.4
VAR_008284
Natural variant3301N → S in patients with autosomal dominant retinitis pigmentosa; probably not pathogenic. Ref.4
VAR_008285
Natural variant3801V → D in CSNBO. Ref.5
VAR_006215
Natural variant3911P → H in CSNBO. Ref.6
VAR_037904
Natural variant4381R → H in one patient with autosomal dominant retinitis pigmentosa; probably not pathogenic. Ref.4
VAR_008286
Natural variant5141C → S in one patient with autosomal dominant retinitis pigmentosa; probably not pathogenic. Ref.4
VAR_008287
Natural variant5221M → T in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance. Ref.4
VAR_008288
Natural variant5361S → L in one patient with autosomal dominant retinitis pigmentosa; probably not pathogenic. Ref.4
VAR_008289

Sequences

Sequence LengthMass (Da)Tools
Q15835-1 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 1244DCB97D40F53D

FASTA56363,526
        10         20         30         40         50         60 
MDFGSLETVV ANSAFIAARG SFDGSSSQPS RDKKYLAKLK LPPLSKCESL RDSLSLEFES 

        70         80         90        100        110        120 
VCLEQPIGKK LFQQFLQSAE KHLPALELWK DIEDYDTADN DLQPQKAQTI LAQYLDPQAK 

       130        140        150        160        170        180 
LFCSFLDEGI VAKFKEGPVE IQDGLFQPLL QATLAHLGQA PFQEYLGSLY FLRFLQWKWL 

       190        200        210        220        230        240 
EAQPMGEDWF LDFRVLGKGG FGEVSACQMK ATGKLYACKK LNKKRLKKRK GYQGAMVEKK 

       250        260        270        280        290        300 
ILMKVHSRFI VSLAYAFETK ADLCLVMTIM NGGDIRYHIY NVNEENPGFP EPRALFYTAQ 

       310        320        330        340        350        360 
IICGLEHLHQ RRIVYRDLKP ENVLLDNDGN VRISDLGLAV ELLDGQSKTK GYAGTPGFMA 

       370        380        390        400        410        420 
PELLQGEEYD FSVDYFALGV TLYEMIAARG PFRARGEKVE NKELKHRIIS EPVKYPDKFS 

       430        440        450        460        470        480 
QASKDFCEAL LEKDPEKRLG FRDETCDKLR AHPLFKDLNW RQLEAGMLMP PFIPDSKTVY 

       490        500        510        520        530        540 
AKDIQDVGAF STVKGVAFDK TDTEFFQEFA TGNCPIPWQE EMIETGIFGE LNVWRSDGQM 

       550        560 
PDDMKGISGG SSSSSKSGMC LVS 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning and localization of rhodopsin kinase in the mammalian pineal."
Zhao X., Haeseleer F., Fariss R.N., Huang J., Baehr W., Milam A.H., Palczewski K.
Vis. Neurosci. 14:225-232(1997) [PubMed: 9147475] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Retina.
[2]"Characterization and chromosomal localization of the gene for human rhodopsin kinase."
Khani S.C., Abitbol M., Yamamoto S., Maravic-Magovcevic I., Dryja T.P.
Genomics 35:571-576(1996) [PubMed: 8812493] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Corpus callosum.
[4]"Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa."
Yamamoto S., Khani S.C., Berson E.L., Dryja T.P.
Exp. Eye Res. 65:249-253(1997) [PubMed: 9268593] [Abstract]
Cited for: VARIANTS GLN-136; MET-298; SER-330; HIS-438; SER-514; THR-522 AND LEU-536.
[5]"Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness."
Yamamoto S., Sippel K.C., Berson E.L., Dryja T.P.
Nat. Genet. 15:175-178(1997) [PubMed: 9020843] [Abstract]
Cited for: VARIANT CSNBO ASP-380.
[6]"A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses."
Hayashi T., Gekka T., Takeuchi T., Goto-Omoto S., Kitahara K.
Ophthalmology 114:134-141(2007) [PubMed: 17070587] [Abstract]
Cited for: VARIANT CSNBO HIS-391.
+Additional computationally mapped references.

Web resources

Mutations of the RHOK gene

Retina International's Scientific Newsletter

Cross-references

Sequence databases

U63973 mRNA. Translation: AAB05929.1.
L77503 mRNA. Translation: AAG50439.1.
L77502 expand/collapse EMBL AC list , L77496, L77497, L77498, L77499, L77500, L77501 Genomic DNA. Translation: AAT00534.2.
AK289912 mRNA. Translation: BAF82601.1.
IPIIPI00019980.
RefSeqNP_002920.1.
UniGeneHs.103501

3D structure databases

HSSPHSSP built from PDB template 1GZK based on UniProtKB P31751.
ModBaseSearch...

PTM databases

PhosphoSiteQ15835.

Proteomic databases

PRIDEQ15835.

Genome annotation databases

EnsemblENSG00000185974. Homo sapiens. [Contig view]
GeneID6011.
KEGGhsa:6011.

Organism-specific databases

GeneCardsGC13P113369.
H-InvDBHIX0037605.
HIX0060255.
HGNCHGNC:10013. GRK1.
MIM180381. gene.
258100. phenotype.
Orphanet75382. Oguchi disease.
PharmGKBPA34391.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ15835.
HOVERGENQ15835.

Enzyme and pathway databases

BRENDA2.7.11.14. 247.
Pathway_Interaction_DBcone_pathway. Visual signal transduction: Cones.
rhodopsin_pathway. Visual signal transduction: Rods.

Gene expression databases

CleanExHS_GRK1.

Family and domain databases

InterProIPR000961. AGC-kinase_C.
IPR000239. GPCR_kinase.
IPR000719. Prot_kinase_core.
IPR017441. Protein_kinase_ATP_BS.
IPR000342. Regulat_G_prot_signal.
IPR017442. Se/Thr_pkinase-rel.
IPR008271. Ser_thr_pkin_AS.
IPR002290. Ser_thr_pkinase.
[Graphical view]
PfamPF00069. Pkinase. 1 hit.
PF00615. RGS. 1 hit.
[Graphical view]
PRINTSPR00717. GPCRKINASE.
ProDomPD000001. Prot_kinase. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00315. RGS. 1 hit.
SM00133. S_TK_X. 1 hit.
SM00220. S_TKc. 1 hit.
[Graphical view]
PROSITEPS51285. AGC_KINASE_CTER. 1 hit.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
PS50132. RGS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio23453.
SOURCESearch...

Entry information

Entry nameRK_HUMAN
AccessionPrimary (citable) accession number: Q15835
Secondary accession number(s): Q53X14
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: June 16, 2009
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human and mouse protein kinases

Human and mouse protein kinases: classification and index

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents