LOCUS       NM_002929               4233 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.
ACCESSION   NM_002929
VERSION     NM_002929.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4233)
  AUTHORS   Baksheeva,V.E., Baldin,A.V., Zalevsky,A.O., Nazipova,A.A.,
            Kazakov,A.S., Vladimirov,V.I., Gorokhovets,N.V., Devred,F.,
            Philippov,P.P., Bazhin,A.V., Golovin,A.V., Zamyatnin,A.A. Jr.,
            Zinchenko,D.V., Tsvetkov,P.O., Permyakov,S.E. and Zernii,E.Y.
  TITLE     Disulfide Dimerization of Neuronal Calcium Sensor-1: Implications
            for Zinc and Redox Signaling
  JOURNAL   Int J Mol Sci 22 (22), 12602 (2021)
   PUBMED   34830487
  REMARK    GeneRIF: Disulfide Dimerization of Neuronal Calcium Sensor-1:
            Implications for Zinc and Redox Signaling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4233)
  AUTHORS   Targa,A., Larrimore,K.E., Wong,C.K., Chong,Y.L., Fung,R., Lee,J.,
            Choi,H. and Rancati,G.
  TITLE     Non-genetic and genetic rewiring underlie adaptation to hypomorphic
            alleles of an essential gene
  JOURNAL   EMBO J 40 (21), e107839 (2021)
   PUBMED   34528284
  REMARK    GeneRIF: Non-genetic and genetic rewiring underlie adaptation to
            hypomorphic alleles of an essential gene.
REFERENCE   3  (bases 1 to 4233)
  AUTHORS   Poulter,J.A., Gravett,M.S.C., Taylor,R.L., Fujinami,K., De
            Zaeytijd,J., Bellingham,J., Rehman,A.U., Hayashi,T., Kondo,M.,
            Rehman,A., Ansar,M., Donnelly,D., Toomes,C., Ali,M., De Baere,E.,
            Leroy,B.P., Davies,N.P., Henderson,R.H., Webster,A.R., Rivolta,C.,
            Zeitz,C., Mahroo,O.A., Arno,G., Black,G.C.M., McKibbin,M.,
            Harris,S.A., Khan,K.N. and Inglehearn,C.F.
  CONSRTM   UK Inherited Retinal Disease Consortium, Genomics England Research
            Consortium
  TITLE     New variants and in silico analyses in GRK1 associated Oguchi
            disease
  JOURNAL   Hum Mutat 42 (2), 164-176 (2021)
   PUBMED   33252155
  REMARK    GeneRIF: New variants and in silico analyses in GRK1 associated
            Oguchi disease.
REFERENCE   4  (bases 1 to 4233)
  AUTHORS   Ballios,B.G., Weisbrod,D., Kohly,R., Muni,R.H., Wright,T. and
            Yan,P.
  TITLE     Wide-field true-colour imaging and clinical characterization of a
            novel GRK1 mutation in Oguchi disease
  JOURNAL   Doc Ophthalmol 141 (2), 181-185 (2020)
   PUBMED   32146548
  REMARK    GeneRIF: Wide-field true-colour imaging and clinical
            characterization of a novel GRK1 mutation in Oguchi disease.
REFERENCE   5  (bases 1 to 4233)
  AUTHORS   Mucciolo,D.P., Sodi,A., Murro,V., Passerini,I., Palchetti,S.,
            Pelo,E., Virgili,G. and Rizzo,S.
  TITLE     A novel GRK1 mutation in an Italian patient with Oguchi disease
  JOURNAL   Ophthalmic Genet 39 (1), 137-138 (2018)
   PUBMED   28511019
  REMARK    GeneRIF: In conclusion, in the present report, a novel missense
            mutation in GRK1 gene in homozygous state was reported in an
            Italian patient affected with Oguchi disease.
REFERENCE   6  (bases 1 to 4233)
  AUTHORS   Yamamoto,S., Sippel,K.C., Berson,E.L. and Dryja,T.P.
  TITLE     Defects in the rhodopsin kinase gene in the Oguchi form of
            stationary night blindness
  JOURNAL   Nat Genet 15 (2), 175-178 (1997)
   PUBMED   9020843
REFERENCE   7  (bases 1 to 4233)
  AUTHORS   Khani,S.C., Abitbol,M., Yamamoto,S., Maravic-Magovcevic,I. and
            Dryja,T.P.
  TITLE     Characterization and chromosomal localization of the gene for human
            rhodopsin kinase
  JOURNAL   Genomics 35 (3), 571-576 (1996)
   PUBMED   8812493
REFERENCE   8  (bases 1 to 4233)
  AUTHORS   Ohguro,H., Rudnicka-Nawrot,M., Buczylko,J., Zhao,X., Taylor,J.A.,
            Walsh,K.A. and Palczewski,K.
  TITLE     Structural and enzymatic aspects of rhodopsin phosphorylation
  JOURNAL   J Biol Chem 271 (9), 5215-5224 (1996)
   PUBMED   8617805
REFERENCE   9  (bases 1 to 4233)
  AUTHORS   Palczewski,K., Buczylko,J., Van Hooser,P., Carr,S.A.,
            Huddleston,M.J. and Crabb,J.W.
  TITLE     Identification of the autophosphorylation sites in rhodopsin kinase
  JOURNAL   J Biol Chem 267 (26), 18991-18998 (1992)
   PUBMED   1527025
REFERENCE   10 (bases 1 to 4233)
  AUTHORS   Lorenz,W., Inglese,J., Palczewski,K., Onorato,J.J., Caron,M.G. and
            Lefkowitz,R.J.
  TITLE     The receptor kinase family: primary structure of rhodopsin kinase
            reveals similarities to the beta-adrenergic receptor kinase
  JOURNAL   Proc Natl Acad Sci U S A 88 (19), 8715-8719 (1991)
   PUBMED   1656454
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX537316.2 and AC187648.1.
            
            On Nov 23, 2018 this sequence version replaced NM_002929.2.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK289912.1, U63973.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335678.7/ ENSP00000334876.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-867               BX537316.2         20042-20908
            868-995             BX537316.2         22510-22637
            996-1153            BX537316.2         24322-24479
            1154-1237           AC187648.1         40639-40722         c
            1238-1362           AC187648.1         32453-32577         c
            1363-1564           AC187648.1         30711-30912         c
            1565-4233           AC187648.1         26060-28728         c
FEATURES             Location/Qualifiers
     source          1..4233
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..4233
                     /gene="GRK1"
                     /gene_synonym="GPRK1; RHOK; RK"
                     /note="G protein-coupled receptor kinase 1"
                     /db_xref="GeneID:6011"
                     /db_xref="HGNC:HGNC:10013"
                     /db_xref="MIM:180381"
     exon            1..867
                     /gene="GRK1"
                     /gene_synonym="GPRK1; RHOK; RK"
                     /inference="alignment:Splign:2.1.0"
     CDS             169..1860
                     /gene="GRK1"
                     /gene_synonym="GPRK1; RHOK; RK"
                     /EC_number="2.7.11.14"
                     /codon_start=1
                     /product="rhodopsin kinase GRK1"
                     /protein_id="NP_002920.1"
                     /db_xref="CCDS:CCDS81785.1"
                     /db_xref="GeneID:6011"
                     /db_xref="HGNC:HGNC:10013"
                     /db_xref="MIM:180381"
                     /translation="MDFGSLETVVANSAFIAARGSFDGSSSQPSRDKKYLAKLKLPPL
                     SKCESLRDSLSLEFESVCLEQPIGKKLFQQFLQSAEKHLPALELWKDIEDYDTADNDL
                     QPQKAQTILAQYLDPQAKLFCSFLDEGIVAKFKEGPVEIQDGLFQPLLQATLAHLGQA
                     PFQEYLGSLYFLRFLQWKWLEAQPMGEDWFLDFRVLGKGGFGEVSACQMKATGKLYAC
                     KKLNKKRLKKRKGYQGAMVEKKILMKVHSRFIVSLAYAFETKADLCLVMTIMNGGDIR
                     YHIYNVNEENPGFPEPRALFYTAQIICGLEHLHQRRIVYRDLKPENVLLDNDGNVRIS
                     DLGLAVELLDGQSKTKGYAGTPGFMAPELLQGEEYDFSVDYFALGVTLYEMIAARGPF
                     RARGEKVENKELKHRIISEPVKYPDKFSQASKDFCEALLEKDPEKRLGFRDETCDKLR
                     AHPLFKDLNWRQLEAGMLMPPFIPDSKTVYAKDIQDVGAFSTVKGVAFDKTDTEFFQE
                     FATGNCPIPWQEEMIETGIFGELNVWRSDGQMPDDMKGISGGSSSSSKSGMCLVS"
     exon            868..995
                     /gene="GRK1"
                     /gene_synonym="GPRK1; RHOK; RK"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1153
                     /gene="GRK1"
                     /gene_synonym="GPRK1; RHOK; RK"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1237
                     /gene="GRK1"
                     /gene_synonym="GPRK1; RHOK; RK"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1362
                     /gene="GRK1"
                     /gene_synonym="GPRK1; RHOK; RK"
                     /inference="alignment:Splign:2.1.0"
     exon            1363..1564
                     /gene="GRK1"
                     /gene_synonym="GPRK1; RHOK; RK"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..4233
                     /gene="GRK1"
                     /gene_synonym="GPRK1; RHOK; RK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4210..4215
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRK1"
                     /gene_synonym="GPRK1; RHOK; RK"
                     /note="hexamer: AATAAA"
     polyA_site      4233
                     /gene="GRK1"
                     /gene_synonym="GPRK1; RHOK; RK"
                     /note="major polyA site"
ORIGIN      
        1 agtggtcccc aggaaccctc gacagggcca gggcgtctct ctcgtccagc aagggcaggg
       61 acgggccaca ggccaagggc agcagtcagg cctgctctgt ctgtgaacgc tcccggcttg
      121 gcctcggctg atgggccctc acgcctgaag cgggcaggaa gctccgggat ggatttcggg
      181 tctttggaga ccgtggtggc caactctgcc ttcatcgccg cccgaggcag ctttgacggc
      241 agcagctccc aaccctcccg ggacaagaag tacctggcca agctcaagct gcccccgctg
      301 tccaagtgtg agtccctccg cgacagcctc agcctggagt ttgagagtgt gtgcttggag
      361 cagcccatcg gcaagaagct ctttcagcag ttcctacaat cggcagagaa gcacctgccg
      421 gccctggagc tctggaaaga catcgaggac tatgacacgg cagacaatga cctccagcca
      481 cagaaggccc agaccatcct ggcccagtac ctggaccccc aggccaaact cttctgcagc
      541 ttcctggatg aggggatagt ggcgaagttt aaggaggggc ctgtggagat ccaggacggg
      601 ctcttccagc ccctgctgca ggccaccctg gcacacctgg gccaagcccc cttccaggag
      661 tacctgggca gcctgtactt cctgaggttc ctgcagtgga agtggctgga agcccagccc
      721 atgggggagg actggttcct ggacttcagg gtcctaggga aagggggctt cggggaggtg
      781 tcggcctgcc agatgaaggc gaccggcaag ctgtatgcct gcaagaagct gaacaagaag
      841 cggctgaaga agaggaaggg ctaccagggt gctatggtgg agaagaagat tctgatgaaa
      901 gtacacagca ggttcatcgt gtctctggcc tatgcgtttg aaaccaaagc cgacctctgt
      961 ctggtgatga ccatcatgaa cggaggtgac atcaggtacc acatctacaa cgtgaatgag
     1021 gagaaccctg gcttcccgga gccgcgcgcc ctcttctaca cggcgcagat catctgcggc
     1081 ctggagcacc tgcaccagag gcggatcgtc taccgcgacc tcaagcccga gaacgtgctg
     1141 ctggacaatg acggcaatgt ccggatctct gaccttgggc tggccgtgga gctgctggac
     1201 ggacagagca agaccaaggg ctacgcaggg accccaggtt tcatggcccc cgagctcctg
     1261 cagggcgagg agtacgactt ctccgtggac tactttgccc tgggggtcac cctgtatgag
     1321 atgattgcgg ccagaggacc cttccgagcc cgtggagaga aggtggagaa caaggagctg
     1381 aagcaccgga tcatctcaga gcccgtgaag taccctgata agttcagcca ggccagcaag
     1441 gacttctgcg aggcgctgct ggagaaggac ccggagaagc gcctggggtt cagagatgag
     1501 acctgcgaca agctccgtgc ccaccccctc ttcaaggacc ttaactggag gcagctggag
     1561 gctgggatgc tgatgccccc tttcatccca gactccaaaa ctgtctacgc aaaggatatt
     1621 caggacgtgg gtgccttttc caccgtcaaa ggtgtggcct ttgacaaaac agacacagaa
     1681 ttctttcagg aatttgccac tggcaactgc cccatcccct ggcaggagga gatgatcgag
     1741 acgggcatct ttggcgagct gaacgtgtgg cgctcggacg gtcagatgcc ggacgacatg
     1801 aagggcatct ccgggggctc cagctcctcg tccaagtcag ggatgtgtct ggtttcctag
     1861 gtgacgcccc agagtccacg tggaggaaaa ggacccatac ggctcgatgg gggccgcctg
     1921 cctccgtggt gccagcctgg ggtctgctag caaggggaca cgtggttccc tccacccagg
     1981 tccccatcac gccatctcct tgcggcccaa ggaggagaaa gcccacatcg gcctgagccg
     2041 ccagacgcac atgctggtgc cgtgagcccc cgactgcata tttcacgtct tttgctccat
     2101 ctcactgaga agacataaga tgctctccag agggagtaag ccaaaaatct acaaactctt
     2161 agggagcctc ctgcattggt gattgaccaa ccgtgtggtc aggggcagag actcggtttt
     2221 ggcctcccaa gaccttagcc attggcttcc cagagccacg ctcctcagcg ggaggtgcac
     2281 ggtggccagg tcaggggtca gtgaaccctg gccgcagccc ctggccccac tggggagggc
     2341 tggacctcgc cccccccagg tccctctgtg caggctcctg acttccaggg tgcccgggcc
     2401 ctgtgctggt ggcctgcacg ccacatggtc ccctgcaccc tgcggcgccg tggtcctctg
     2461 cacactgggg caccatggtc ccctgcactc cggggtgcca tggtccacat ctgccaggcg
     2521 caggctctgt tgggctgttg ggaggagggg agcgggtgtg gagtctgggg gtctcagtgc
     2581 atcttggggt ctccttatct cagggtgtcc agctgacggc agctggtgca aagttcccac
     2641 ccctgagctg gggagctgaa aatgttttct gtcttgaccc tgagtcccgg aagcacctca
     2701 gctgctcttg gcgggcaaag ccaggaccgt ttgctctctg accctcctcc ccactggggc
     2761 tggtccgtct catctcccag gggacacttc aggccacggg ccttgtgcat agggacagag
     2821 ctccttgctg caacccctct ctgtgttccc agtagcagca gcactggagt cctaaagcca
     2881 tagcccggga agacactcac agcccacctt ctcatacagc tcggccccac ccacaatgca
     2941 cctggcattt ccaactgcac tttgaacact gaaggttccc caaatgcttt gtgtgtttta
     3001 actgcaggaa gttagttctg ttgcaactgc ctccaggaca cactccctct tgagggccgg
     3061 cggtgctggc ctgggttcca tggcctcagc agccggctca gagggagtgc atccaagccg
     3121 cagggaagca gtggtgatgg gcggcctgag gactcctttc cagagagggc ctctgagctc
     3181 cttttaggaa agaacttcct ttgagccccg gccactgttg taccagtggg agaagaagcc
     3241 tgaccctgcc acatgtggtc acggggagag aagatggtag gacgtccccg tgagccttgg
     3301 ggcagagctg gtggtagaaa gaagccctgt ctactctaat ttggtgagag gggccgcggc
     3361 aagtggctga tgatgtgact gatggagaca gggtggcttg ggaaggtccc acttgggggt
     3421 gtcacgtcct gcagggagtg gaagagatgg atcctccgta gcctggactg gtgggtctcg
     3481 gcctctctcc cagaaatggc agagacagct gcctgagagt cagtgctgca gtgggcaggg
     3541 cctatgccct cacagtcctc aggctgccag gtcgtcctct tcctgttggg gagaagagga
     3601 ccctggcaat ccacaatttt ggagatttgc tggctgcagc caaaatgggg acccaactcc
     3661 ctcctatgtg gttttagagc ttctggaggg aagataggcc acgcccctgg gtgaggagca
     3721 cgtcttccca cagatcctaa gtcggccaca ccctgggtga ggagcacgtc ttcccatagg
     3781 tcccacgtca gccacaccct gggtgaggag cacgtcttcc catagatccc acatcggcca
     3841 caccctgggt gaggagcatg tcttcccata gatcccacgt cggccacacc ctgggtgagg
     3901 agcacgtctt cccatagatc ccacatcggc cacaccctgg gtgaggagca tgtcttccca
     3961 tagatcccac gtcggccaca ccctgggtga ggagcacgtc ttcccataga tcccacgtcg
     4021 gccacaccct gggtgaggag catgtcttcc catagaaccc acgtcggcca caccctgggt
     4081 gaggagcacg tcttcccaca gatctcaaca gaactccaca tcgtctggtt ttgtggagac
     4141 tttcatatgt cctgtcaagt tgcctcatgc acctgcagac tgttcttggg aagcaaacct
     4201 ggactgcaaa ataaacctcc cggcctcctc ctg
//
