LOCUS       NM_002597               1234 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens phosducin (PDC), transcript variant 1, mRNA.
ACCESSION   NM_002597
VERSION     NM_002597.5
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 1234)
  AUTHORS   Piotrowska,U., Adler,G. and Kozicki,I.
  TITLE     Phosducin regulates secretory activity in TT line of thyroid
            parafollicular C cells
  JOURNAL   Horm Metab Res 47 (2), 114-118 (2015)
   PUBMED   25153685
  REMARK    GeneRIF: Phosducin regulates secretory activity in TT line of
            thyroid parafollicular C cells.
REFERENCE   2  (bases 1 to 1234)
  AUTHORS   Palatini,P., Ceolotto,G., Ragazzo,F., Mos,L., Santonastaso,M.,
            Zanata,G., Saladini,F. and Casiglia,E.
  CONSRTM   HARVEST Study Investigators
  TITLE     Phosducin rs12402521 polymorphism predicts development of
            hypertension in young subjects with overweight or obesity
  JOURNAL   Nutr Metab Cardiovasc Dis 23 (4), 323-329 (2013)
   PUBMED   22365573
  REMARK    GeneRIF: Data suggest that phosducin rs12402521 polymorphism is an
            important genetic predictor of obesity-related hypertension.
REFERENCE   3  (bases 1 to 1234)
  AUTHORS   Broeckel,U., Stoll,M. and Hein,L.
  TITLE     The identification of phosducin as a novel candidate gene for
            hypertension and its role in sympathetic activation
  JOURNAL   Curr Opin Nephrol Hypertens 20 (2), 118-124 (2011)
   PUBMED   21191291
  REMARK    GeneRIF: identification of Pdc as a gene for stress-induced
            hypertension offers new insights into the relationship between
            sympathetic nervous system activation, blood pressure regulation
            and genetic factors
            Review article
REFERENCE   4  (bases 1 to 1234)
  AUTHORS   Piotrowska,U. and Adler,G.
  TITLE     Phosducin and monomeric beta-actin have common epitope recognized
            by anti-phosducin antibodies
  JOURNAL   Immunol Lett 134 (1), 62-68 (2010)
   PUBMED   20804785
  REMARK    GeneRIF: Data suggest that the existence of a common epitope on the
            molecules of phosducin and beta-actin may reflect a topological
            similarity of a small region of their surfaces.
REFERENCE   5  (bases 1 to 1234)
  AUTHORS   Beetz,N., Harrison,M.D., Brede,M., Zong,X., Urbanski,M.J.,
            Sietmann,A., Kaufling,J., Lorkowski,S., Barrot,M., Seeliger,M.W.,
            Vieira-Coelho,M.A., Hamet,P., Gaudet,D., Seda,O., Tremblay,J.,
            Kotchen,T.A., Kaldunski,M., Nusing,R., Szabo,B., Jacob,H.J.,
            Cowley,A.W. Jr., Biel,M., Stoll,M., Lohse,M.J., Broeckel,U. and
            Hein,L.
  TITLE     Phosducin influences sympathetic activity and prevents
            stress-induced hypertension in humans and mice
  JOURNAL   J Clin Invest 119 (12), 3597-3612 (2009)
   PUBMED   19959875
  REMARK    GeneRIF: Candidate gene-based association studies in 2 different
            populations revealed several SNPs in the PDC gene to be associated
            with stress-dependent blood pressure phenotypes.
            Erratum:[J Clin Invest. 2011 Jan 4;121(1):454. Lorkowski, Stefan
            [added]]
REFERENCE   6  (bases 1 to 1234)
  AUTHORS   Hawes,B.E., Touhara,K., Kurose,H., Lefkowitz,R.J. and Inglese,J.
  TITLE     Determination of the G beta gamma-binding domain of phosducin. A
            regulatable modulator of G beta gamma signaling
  JOURNAL   J Biol Chem 269 (47), 29825-29830 (1994)
   PUBMED   7961975
REFERENCE   7  (bases 1 to 1234)
  AUTHORS   Abe,T., Kikuchi,T. and Shinohara,T.
  TITLE     The sequence of the human phosducin gene (PDC) and its 5'-flanking
            region
  JOURNAL   Genomics 19 (2), 369-372 (1994)
   PUBMED   8188267
REFERENCE   8  (bases 1 to 1234)
  AUTHORS   Lee,R.H., Brown,B.M. and Lolley,R.N.
  TITLE     Protein kinase A phosphorylates retinal phosducin on serine 73 in
            situ
  JOURNAL   J Biol Chem 265 (26), 15860-15866 (1990)
   PUBMED   2394752
REFERENCE   9  (bases 1 to 1234)
  AUTHORS   Watanabe,Y., Kawasaki,K., Miki,N. and Kuo,C.H.
  TITLE     Isolation and analysis of the human MEKA gene encoding a
            retina-specific protein
  JOURNAL   Biochem Biophys Res Commun 170 (2), 951-956 (1990)
   PUBMED   2383274
REFERENCE   10 (bases 1 to 1234)
  AUTHORS   Abe,T., Nakabayashi,H., Tamada,H., Takagi,T., Sakuragi,S.,
            Yamaki,K. and Shinohara,T.
  TITLE     Analysis of the human, bovine and rat 33-kDa proteins and cDNA in
            retina and pineal gland
  JOURNAL   Gene 91 (2), 209-215 (1990)
   PUBMED   2210381
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL663036.5, EL945964.1,
            BC093839.1, BM715757.1 and BM674109.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002597.4.
            
            Summary: This gene encodes a phosphoprotein, which is located in
            the outer and inner segments of the rod cells in the retina. This
            protein may participate in the regulation of visual
            phototransduction or in the integration of photoreceptor
            metabolism. It modulates the phototransduction cascade by
            interacting with the beta and gamma subunits of the retinal
            G-protein transducin. This gene is a potential candidate gene for
            retinitis pigmentosa and Usher syndrome type II. Alternatively
            spliced transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1), also known as PHD, represents
            the longer transcript, and encodes the longer isoform (a).
            
            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 :: M33478.1, AL712565.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000391997.3/ ENSP00000375855.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AL663036.5         4943-4948           c
            7-394               EL945964.1         5-392
            395-912             BC093839.1         182-699
            913-1081            BM715757.1         483-651
            1082-1234           BM674109.1         19-171              c
FEATURES             Location/Qualifiers
     source          1..1234
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.1"
     gene            1..1234
                     /gene="PDC"
                     /gene_synonym="MEKA; PHD; PhLOP; PhLP"
                     /note="phosducin"
                     /db_xref="GeneID:5132"
                     /db_xref="HGNC:HGNC:8759"
                     /db_xref="MIM:171490"
     exon            1..56
                     /gene="PDC"
                     /gene_synonym="MEKA; PHD; PhLOP; PhLP"
                     /inference="alignment:Splign:2.1.0"
     exon            57..141
                     /gene="PDC"
                     /gene_synonym="MEKA; PHD; PhLOP; PhLP"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..821
                     /gene="PDC"
                     /gene_synonym="MEKA; PHD; PhLOP; PhLP"
                     /note="isoform a is encoded by transcript variant 1; G
                     beta gamma binding protein; phosducin-like orphan protein;
                     33 kDa phototransducing protein"
                     /codon_start=1
                     /product="phosducin isoform a"
                     /protein_id="NP_002588.3"
                     /db_xref="CCDS:CCDS1370.1"
                     /db_xref="GeneID:5132"
                     /db_xref="HGNC:HGNC:8759"
                     /db_xref="MIM:171490"
                     /translation="MEEAKSQSLEEDFEGQATHTGPKGVINDWRKFKLESQDSDSIPP
                     SKKEILRQMSSPQSRNGKDSKERVSRKMSIQEYELIHKEKEDENCLRKYRRQCMQDMH
                     QKLSFGPRYGFVYELETGKQFLETIEKELKITTIVVHIYEDGIKGCDALNSSLTCLAA
                     EYPIVKFCKIKASNTGAGDRFSLDVLPTLLIYKGGELISNFISVAEQFAEEFFAGDVE
                     SFLNEYGLLPEREVHVLEHTKIEEEDVE"
     exon            142..293
                     /gene="PDC"
                     /gene_synonym="MEKA; PHD; PhLOP; PhLP"
                     /inference="alignment:Splign:2.1.0"
     exon            294..1234
                     /gene="PDC"
                     /gene_synonym="MEKA; PHD; PhLOP; PhLP"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agtagacagg gattctcacc cactcaacaa ggacaccagg cacagagatc caaactatta
       61 tatcaaatcc agtccctaaa atggaagaag ccaaaagcca aagtttggag gaagactttg
      121 aaggacaggc cacacataca ggacccaaag gagtaataaa tgattggaga aagtttaaat
      181 tagagagtca agacagtgat tcaattccac ctagcaagaa ggagattctc aggcaaatgt
      241 cttctcctca gagtaggaat ggcaaagatt caaaggaacg agtcagcaga aagatgagca
      301 ttcaagaata tgaactaatc cataaagaga aagaggatga aaactgcctt cgtaaatacc
      361 gtagacagtg tatgcaggat atgcaccaga agctgagttt tgggcctaga tatgggtttg
      421 tgtatgagct ggaaactgga aagcaattcc tagaaacaat tgaaaaggaa ctgaagatca
      481 ccacaattgt tgttcacatt tatgaagatg gtattaaggg ttgtgatgct ctaaacagta
      541 gtttaacatg ccttgcagca gaatacccta tagttaagtt ttgtaaaata aaagcttcga
      601 atacaggtgc tggggaccgc ttttccttag atgtacttcc tacactgctc atctataaag
      661 gtggggaact cataagcaat tttattagtg ttgctgaaca gtttgctgaa gaattttttg
      721 ctggggatgt ggagtctttc ctaaatgaat atgggttact acctgaaaga gaggtacatg
      781 tcctagagca taccaaaata gaagaagaag atgttgaatg aagattcact atgtcaatat
      841 ctcatgttta tcctttaggt attggatgat ggttttggta gtatctatat tgctttagtg
      901 aacacagagt atgggcacgg ctatgctaac ttgacaaaaa tgactgatgc aacaatcgag
      961 ttattagcat ttcttagtat tagttactca aattgataca atgcttgact acaaaacaga
     1021 gctgtcttca gcaacattat tagtagacaa agaggatgtg gataatatta tgacattttt
     1081 caaaaatccc tttcaagtta tgttttgtct tttttactcc attttccctc atcactgtta
     1141 ttatttggac ttttcaaatt acattattca ttataatttt ctttgtgtaa taaaaatgaa
     1201 atctcatgag aaaataaatt ttctatttga agtc
//
