LOCUS       NM_002143               1412 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens hippocalcin (HPCA), mRNA.
ACCESSION   NM_002143
VERSION     NM_002143.3
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 1412)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1412)
  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   3  (bases 1 to 1412)
  AUTHORS   Kang,M.J., Park,S.Y. and Han,J.S.
  TITLE     MicroRNA-24-3p regulates neuronal differentiation by controlling
            hippocalcin expression
  JOURNAL   Cell Mol Life Sci 76 (22), 4569-4580 (2019)
   PUBMED   31486848
  REMARK    GeneRIF: MiR-24-3p is an important miRNA that regulates neuronal
            differentiation by controlling HPCA expression.
REFERENCE   4  (bases 1 to 1412)
  AUTHORS   Atasu,B., Hanagasi,H., Bilgic,B., Pak,M., Erginel-Unaltuna,N.,
            Hauser,A.K., Guven,G., Simon-Sanchez,J., Heutink,P., Gasser,T. and
            Lohmann,E.
  TITLE     HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype
  JOURNAL   Mov Disord 33 (8), 1354-1358 (2018)
   PUBMED   30145809
  REMARK    GeneRIF: HPCA mutations lead to recessively inherited dystonia
REFERENCE   5  (bases 1 to 1412)
  AUTHORS   Helassa,N., Antonyuk,S.V., Lian,L.Y., Haynes,L.P. and Burgoyne,R.D.
  TITLE     Biophysical and functional characterization of hippocalcin mutants
            responsible for human dystonia
  JOURNAL   Hum Mol Genet 26 (13), 2426-2435 (2017)
   PUBMED   28398555
  REMARK    GeneRIF: hippocalcin forms oligomers upon calcium binding and
            directly interacts with VGCCs. The dystonia-causing mutations did
            not affect protein stability or folding. In common for both T71N
            and A190T mutants was an impaired calcium-dependent oligomerisation
            and increased intracellular calcium influx after KCl
            depolarisation.
REFERENCE   6  (bases 1 to 1412)
  AUTHORS   Takamatsu,K., Kobayashi,M., Saitoh,S., Fujishiro,M. and Noguchi,T.
  TITLE     Molecular cloning of human hippocalcin cDNA and chromosomal mapping
            of its gene
  JOURNAL   Biochem Biophys Res Commun 200 (1), 606-611 (1994)
   PUBMED   8166736
REFERENCE   7  (bases 1 to 1412)
  AUTHORS   Kobayashi,M., Takamatsu,K., Saitoh,S. and Noguchi,T.
  TITLE     Myristoylation of hippocalcin is linked to its calcium-dependent
            membrane association properties
  JOURNAL   J Biol Chem 268 (25), 18898-18904 (1993)
   PUBMED   8360179
REFERENCE   8  (bases 1 to 1412)
  AUTHORS   Kobayashi,M., Takamatsu,K., Saitoh,S., Miura,M. and Noguchi,T.
  TITLE     Molecular cloning of hippocalcin, a novel calcium-binding protein
            of the recoverin family exclusively expressed in hippocampus
  JOURNAL   Biochem Biophys Res Commun 189 (1), 511-517 (1992)
   PUBMED   1280427
  REMARK    Erratum:[Biochem Biophys Res Commun. 1993 Oct 29;196(2):1017. doi:
            10.1006/bbrc.1993.2351.. PMID: 8240319]
REFERENCE   9  (bases 1 to 1412)
  AUTHORS   Fletcher,N.A.
  TITLE     The genetics of idiopathic torsion dystonia
  JOURNAL   J Med Genet 27 (7), 409-412 (1990)
   PUBMED   2203908
  REMARK    Review article
REFERENCE   10 (bases 1 to 1412)
  AUTHORS   Gimenez-Roldan,S., Delgado,G., Marin,M., Villanueva,J.A. and
            Mateo,D.
  TITLE     Hereditary torsion dystonia in gypsies
  JOURNAL   Adv Neurol 50, 73-81 (1988)
   PUBMED   3400517
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC114493.3 and BC001777.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002143.2.
            
            Summary: The protein encoded by this gene is a member of
            neuron-specific calcium-binding proteins family found in the retina
            and brain. This protein is associated with the plasma membrane. It
            has similarities to proteins located in the photoreceptor cells
            that regulate photosignal transduction in a calcium-sensitive
            manner. This protein displays recoverin activity and a
            calcium-dependent inhibition of rhodopsin kinase. It is identical
            to the rat and mouse hippocalcin proteins and thought to play an
            important role in neurons of the central nervous system in a number
            of species. [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 :: SRR3476690.170379.1,
                                           SRR3476690.961056.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373467.4/ ENSP00000362566.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AC114493.3         121511-121516
            7-1412              BC001777.1         1-1406
FEATURES             Location/Qualifiers
     source          1..1412
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     gene            1..1412
                     /gene="HPCA"
                     /gene_synonym="BDR2; DYT2"
                     /note="hippocalcin"
                     /db_xref="GeneID:3208"
                     /db_xref="HGNC:HGNC:5144"
                     /db_xref="MIM:142622"
     exon            1..25
                     /gene="HPCA"
                     /gene_synonym="BDR2; DYT2"
                     /inference="alignment:Splign:2.1.0"
     exon            26..424
                     /gene="HPCA"
                     /gene_synonym="BDR2; DYT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             47..628
                     /gene="HPCA"
                     /gene_synonym="BDR2; DYT2"
                     /note="calcium-binding protein BDR-2; dystonia 2, torsion
                     (autosomal recessive)"
                     /codon_start=1
                     /product="neuron-specific calcium-binding protein
                     hippocalcin"
                     /protein_id="NP_002134.2"
                     /db_xref="CCDS:CCDS370.1"
                     /db_xref="GeneID:3208"
                     /db_xref="HGNC:HGNC:5144"
                     /db_xref="MIM:142622"
                     /translation="MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILN
                     VDEFKKIYANFFPYGDASKFAEHVFRTFDTNSDGTIDFREFIIALSVTSRGRLEQKLM
                     WAFSMYDLDGNGYISREEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNN
                     DGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF"
     exon            425..530
                     /gene="HPCA"
                     /gene_synonym="BDR2; DYT2"
                     /inference="alignment:Splign:2.1.0"
     exon            531..1412
                     /gene="HPCA"
                     /gene_synonym="BDR2; DYT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1391..1396
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPCA"
                     /gene_synonym="BDR2; DYT2"
                     /note="hexamer: AATAAA"
     polyA_site      1412
                     /gene="HPCA"
                     /gene_synonym="BDR2; DYT2"
                     /note="major polyA site"
ORIGIN      
        1 gcagtcggtg tctccgcgtc gctgggtggg acttggctcg gcggccatgg gcaagcagaa
       61 cagcaagctg cggcccgaga tgttgcagga cctgcgagag aacacagagt tctcagagct
      121 ggagctgcag gagtggtaca agggcttcct caaggactgc cccacaggaa tcctcaatgt
      181 ggatgagttc aagaagatct acgccaactt ctttccctat ggtgacgcct ccaagtttgc
      241 cgagcacgtc ttccgcacct ttgacaccaa cagcgatggc accatagact ttcgggagtt
      301 catcattgcg ctgagcgtga cctcgcgcgg ccgcctggag cagaagctca tgtgggcctt
      361 cagcatgtat gacctggacg gcaacggcta catcagccgg gaggagatgc tggagatcgt
      421 gcaggccatt tacaagatgg tttcgtccgt gatgaagatg ccggaggacg agtcgacccc
      481 ggaaaagagg actgagaaaa tcttccgcca aatggacaca aacaacgacg gcaagctgtc
      541 cttggaggag ttcatccgcg gggccaaaag cgacccgtcc atcgtgcgtc tgctgcagtg
      601 cgaccccagc agcgcctccc agttctgaga ggagccaggt tccccttcct ccctcccttc
      661 accggccccc tcccggctct tagcttccac tcccttgtgt gtattctggc tgggggccag
      721 attggggaag cccttctccc cgggtctgcc ctgtgggggg cttccggaaa agggaaccct
      781 gcggtacccc caggccaaag caagtaagcg gttagcaccc cccaatccca gaggcaacaa
      841 tagagacaca ggctgggttg gtctgcccct cagtcaggcc cccttaccca cccaccagcc
      901 ccaaggcccg acccctcccc caaaggggca gtccccttct tgcaggtctc agcttgcggg
      961 gtggggggag tcatgcccag gggaggagac tttttatctg gaggggagag aaggattcta
     1021 ggggtgtgga gttggagaaa gaggcttcct tgagccaccc ttcccacccc agcccttgct
     1081 ggtccctagg ccaagccacc aagtgaaacc ttccaggata ctagcccgcc agctgtgggc
     1141 cccagaaagc cagcctgcct tttagcactt ggatacacac agacccacgg agctctctgt
     1201 gtttggcctc tcacacacac acaggcccat agacagatgg gcagatgcac ccagagcccc
     1261 atgcacagtg tcctgcgtgg gaaagagaca cggtccccct ggctgagccc ctgtcctccc
     1321 ctctgtcccc ccaaccgccc cccctgcatg cagccaaatg gagcatctct gttcttttta
     1381 ataatttcag aataaagtct catttcagtg ca
//
