LOCUS       NM_006198                534 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens Purkinje cell protein 4 (PCP4), mRNA.
ACCESSION   NM_006198
VERSION     NM_006198.3
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 534)
  AUTHORS   Hu,D., Dong,X., Wang,Q., Liu,M., Luo,S., Meng,Z., Feng,Z., Zhou,W.
            and Song,W.
  TITLE     PCP4 Promotes Alzheimer's Disease Pathogenesis by Affecting
            Amyloid-beta Protein Precursor Processing
  JOURNAL   J Alzheimers Dis 94 (2), 737-750 (2023)
   PUBMED   37302034
  REMARK    GeneRIF: PCP4 Promotes Alzheimer's Disease Pathogenesis by
            Affecting Amyloid-beta Protein Precursor Processing.
REFERENCE   2  (bases 1 to 534)
  AUTHORS   He,W., Shi,X., Guo,Z., Wang,H., Kang,M. and Lv,Z.
  TITLE     Circ_0019693 promotes osteogenic differentiation of bone marrow
            mesenchymal stem cell and enhances osteogenesis-coupled
            angiogenesis via regulating microRNA-942-5p-targeted purkinje cell
            protein 4 in the development of osteoporosis
  JOURNAL   Bioengineered 13 (2), 2181-2193 (2022)
   PUBMED   35030971
  REMARK    GeneRIF: Circ_0019693 promotes osteogenic differentiation of bone
            marrow mesenchymal stem cell and enhances osteogenesis-coupled
            angiogenesis via regulating microRNA-942-5p-targeted purkinje cell
            protein 4 in the development of osteoporosis.
REFERENCE   3  (bases 1 to 534)
  AUTHORS   Kitazono,I., Hamada,T., Yoshimura,T., Kirishima,M., Yokoyama,S.,
            Akahane,T. and Tanimoto,A.
  TITLE     PCP4/PEP19 downregulates neurite outgrowth via transcriptional
            regulation of Ascl1 and NeuroD1 expression in human neuroblastoma
            M17 cells
  JOURNAL   Lab Invest 100 (12), 1551-1563 (2020)
   PUBMED   32641824
  REMARK    GeneRIF: PCP4/PEP19 downregulates neurite outgrowth via
            transcriptional regulation of Ascl1 and NeuroD1 expression in human
            neuroblastoma M17 cells.
REFERENCE   4  (bases 1 to 534)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 534)
  AUTHORS   He,L., Lee,G.T., Zhou,H., Buhimschi,I.A., Buhimschi,C.S.,
            Weiner,C.P. and Mason,C.W.
  TITLE     Expression, Regulation, and Function of the Calmodulin Accessory
            Protein PCP4/PEP-19 in Myometrium
  JOURNAL   Reprod Sci 26 (12), 1650-1660 (2019)
   PUBMED   30744532
  REMARK    GeneRIF: Compared to other CaM regulatory proteins, PCP4/PEP-19
            transcripts were more abundant in human myometrium. The expression
            of PCP4/PEP-19 was lowest in myometrium of women with preterm
            pregnancy and chorioamnionitis.
REFERENCE   6  (bases 1 to 534)
  AUTHORS   Putkey,J.A., Kleerekoper,Q., Gaertner,T.R. and Waxham,M.N.
  TITLE     A new role for IQ motif proteins in regulating calmodulin function
  JOURNAL   J Biol Chem 278 (50), 49667-49670 (2003)
   PUBMED   14551202
  REMARK    GeneRIF: PEP-19 has the potential to alter the Ca2+-binding
            dynamics of free CaM and CaM that is bound to other target proteins
REFERENCE   7  (bases 1 to 534)
  AUTHORS   Utal,A.K., Stopka,A.L., Roy,M. and Coleman,P.D.
  TITLE     PEP-19 immunohistochemistry defines the basal ganglia and
            associated structures in the adult human brain, and is dramatically
            reduced in Huntington's disease
  JOURNAL   Neuroscience 86 (4), 1055-1063 (1998)
   PUBMED   9697113
  REMARK    Erratum:[Neuroscience 1999;88(3):993]
REFERENCE   8  (bases 1 to 534)
  AUTHORS   Hubert,R.S. and Korenberg,J.R.
  TITLE     PCP4 maps between D21S345 and P31P10SP6 on chromosome
            21q22.2-->q22.3
  JOURNAL   Cytogenet Cell Genet 78 (1), 44-45 (1997)
   PUBMED   9345904
REFERENCE   9  (bases 1 to 534)
  AUTHORS   Chen,H., Bouras,C. and Antonarakis,S.E.
  TITLE     Cloning of the cDNA for a human homolog of the rat PEP-19 gene and
            mapping to chromosome 21q22.2-q22.3
  JOURNAL   Hum Genet 98 (6), 672-677 (1996)
   PUBMED   8931698
REFERENCE   10 (bases 1 to 534)
  AUTHORS   Cabin,D.E., Gardiner,K. and Reeves,R.H.
  TITLE     Molecular genetic characterization and comparative mapping of the
            human PCP4 gene
  JOURNAL   Somat Cell Mol Genet 22 (3), 167-175 (1996)
   PUBMED   8914602
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            U52969.1 and BQ287895.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006198.2.
            
            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 :: AK289964.1, U52969.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328619.10/ ENSP00000329403.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-513               U52969.1           18-530
            514-534             BQ287895.1         16-36               c
FEATURES             Location/Qualifiers
     source          1..534
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.2"
     gene            1..534
                     /gene="PCP4"
                     /gene_synonym="PEP-19"
                     /note="Purkinje cell protein 4"
                     /db_xref="GeneID:5121"
                     /db_xref="HGNC:HGNC:8742"
                     /db_xref="MIM:601629"
     exon            1..73
                     /gene="PCP4"
                     /gene_synonym="PEP-19"
                     /inference="alignment:Splign:2.1.0"
     CDS             65..253
                     /gene="PCP4"
                     /gene_synonym="PEP-19"
                     /note="brain specific polypeptide PEP19; brain-specific
                     antigen PCP-4; brain-specific polypeptide PEP-19"
                     /codon_start=1
                     /product="calmodulin regulator protein PCP4"
                     /protein_id="NP_006189.2"
                     /db_xref="CCDS:CCDS33563.1"
                     /db_xref="GeneID:5121"
                     /db_xref="HGNC:HGNC:8742"
                     /db_xref="MIM:601629"
                     /translation="MSERQGAGATNGKDKTSGENDGQKKVQEEFDIDMDAPETERAAV
                     AIQSQFRKFQKKKAGSQS"
     exon            74..125
                     /gene="PCP4"
                     /gene_synonym="PEP-19"
                     /inference="alignment:Splign:2.1.0"
     exon            126..534
                     /gene="PCP4"
                     /gene_synonym="PEP-19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      514..519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCP4"
                     /gene_synonym="PEP-19"
                     /note="hexamer: AATGAA"
     polyA_site      534
                     /gene="PCP4"
                     /gene_synonym="PEP-19"
                     /note="major polyA site"
ORIGIN      
        1 agcgacccct gagcagtgtt ctctgtgctg agcggcggga ctgagctgtt gagttagagc
       61 caacatgagt gagcgacaag gtgctggggc aaccaatgga aaagacaaga catctggtga
      121 aaatgatgga cagaagaaag ttcaagaaga atttgacatt gacatggatg caccagagac
      181 agaacgtgca gcggtggcca ttcagtctca gttcagaaaa ttccagaaga agaaggctgg
      241 gtctcagtcc tagtgggaga accccctcct agtccacctg aaaacaccaa attcaaccat
      301 catctgtcaa gaaattaaaa gaacaacacc ctagagagaa gtcatccaca cacaatccac
      361 acacgcatag caaacctcca atgcatgtac agaaacctgt gatatttata cccttgtagg
      421 aaggtataga caatggaatt gtgagtagct taatctctat gtttctctcc attttcattc
      481 ctcctgcaac tattttcctt gatgttgtaa taaaatgaag ttacgatgag tgaa
//
