LOCUS       NM_004058               1537 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens calcyphosine (CAPS), transcript variant 1, mRNA.
ACCESSION   NM_004058 XM_005259656
VERSION     NM_004058.5
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 1537)
  AUTHORS   Zhu,Z., Wang,J., Tan,J., Yao,Y.L., He,Z.C., Xie,X.Q., Yan,Z.X.,
            Fu,W.J., Liu,Q., Wang,Y.X., Luo,T. and Bian,X.W.
  TITLE     Calcyphosine promotes the proliferation of glioma cells and serves
            as a potential therapeutic target
  JOURNAL   J Pathol 255 (4), 374-386 (2021)
   PUBMED   34370292
  REMARK    GeneRIF: Calcyphosine promotes the proliferation of glioma cells
            and serves as a potential therapeutic target.
REFERENCE   2  (bases 1 to 1537)
  AUTHORS   Pan,H., Xiang,H., Wang,J., Wei,Z., Zhou,Y., Liu,B., Li,T., Ma,X.,
            Cao,Y. and Wang,B.
  TITLE     CAPS Mutations Are Potentially Associated with Unexplained
            Recurrent Pregnancy Loss
  JOURNAL   Am J Pathol 189 (1), 124-131 (2019)
   PUBMED   30339840
  REMARK    GeneRIF: The results indicated that the autosomal recessive
            homozygous mutation, p.Leu127Trpfs, in CAPS might be a maternal
            effect causative mutation of RPL pathogenesis.
REFERENCE   3  (bases 1 to 1537)
  AUTHORS   Orvedahl,A., Sumpter,R. Jr., Xiao,G., Ng,A., Zou,Z., Tang,Y.,
            Narimatsu,M., Gilpin,C., Sun,Q., Roth,M., Forst,C.V., Wrana,J.L.,
            Zhang,Y.E., Luby-Phelps,K., Xavier,R.J., Xie,Y. and Levine,B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   4  (bases 1 to 1537)
  AUTHORS   Pinheiro,A.P., Bulik,C.M., Thornton,L.M., Sullivan,P.F., Root,T.L.,
            Bloss,C.S., Berrettini,W.H., Schork,N.J., Kaye,W.H., Bergen,A.W.,
            Magistretti,P., Brandt,H., Crawford,S., Crow,S., Fichter,M.M.,
            Goldman,D., Halmi,K.A., Johnson,C., Kaplan,A.S., Keel,P.K.,
            Klump,K.L., La Via,M., Mitchell,J.E., Strober,M., Rotondo,A.,
            Treasure,J. and Woodside,D.B.
  TITLE     Association study of 182 candidate genes in anorexia nervosa
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 153B (5), 1070-1080 (2010)
   PUBMED   20468064
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1537)
  AUTHORS   Dong,H., Lou,Z., Xu,X., Su,D., Zhou,X., Li,X. and Bartlam,M.
  TITLE     Crystallization and preliminary crystallographic analysis of
            recombinant human calcyphosine
  JOURNAL   Protein Pept Lett 16 (3), 339-341 (2009)
   PUBMED   19275752
  REMARK    GeneRIF: The calcyphosine crystal diffracted to 2.8 A and belonged
            to space group P2(1)2(1)2, with the unit cell parameters a=70.39 A,
            b=132.02 A, c=46.20 A.
REFERENCE   6  (bases 1 to 1537)
  AUTHORS   Li,Z., Huang,C., Bai,S., Pan,X., Zhou,R., Wei,Y. and Zhao,X.
  TITLE     Prognostic evaluation of epidermal fatty acid-binding protein and
            calcyphosine, two proteins implicated in endometrial cancer using a
            proteomic approach
  JOURNAL   Int J Cancer 123 (10), 2377-2383 (2008)
   PUBMED   18729184
  REMARK    GeneRIF: Results demonstrated the ubiquitous overexpressions of
            E-FABP and CAPS in EC and the correlations to the clinicopathologic
            parameters. CAPS might be a potential prognostic factor for
            survival in patients with EC
REFERENCE   7  (bases 1 to 1537)
  AUTHORS   Burgess,J.A., Lescuyer,P., Hainard,A., Burkhard,P.R., Turck,N.,
            Michel,P., Rossier,J.S., Reymond,F., Hochstrasser,D.F. and
            Sanchez,J.C.
  TITLE     Identification of brain cell death associated proteins in human
            post-mortem cerebrospinal fluid
  JOURNAL   J Proteome Res 5 (7), 1674-1681 (2006)
   PUBMED   16823975
REFERENCE   8  (bases 1 to 1537)
  AUTHORS   El Housni,H., Radulescu,A., Lecocq,R., Dumont,J.E. and
            Christophe,D.
  TITLE     Cloning and sequence analysis of human calcyphosine complementary
            DNA
  JOURNAL   Biochim Biophys Acta 1352 (3), 249-252 (1997)
   PUBMED   9224948
REFERENCE   9  (bases 1 to 1537)
  AUTHORS   Clement,S., Dumont,J.E. and Schurmans,S.
  TITLE     Loss of calcyphosine gene expression in mouse and other rodents
  JOURNAL   Biochem Biophys Res Commun 232 (2), 407-413 (1997)
   PUBMED   9125191
REFERENCE   10 (bases 1 to 1537)
  AUTHORS   Lefort,A., Passage,E., Libert,F., Szpirer,J., Vassart,G. and
            Mattei,M.G.
  TITLE     Localization of human calcyphosine gene (CAPS) to the p13.3 region
            of chromosome 19 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 54 (3-4), 154-155 (1990)
   PUBMED   2265558
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK226026.1, BC011961.1, BU689238.1 and AW510425.1.
            
            On Sep 15, 2018 this sequence version replaced NM_004058.4.
            
            Summary: This gene encodes a calcium-binding protein, which may
            play a role in the regulation of ion transport. A similar protein
            was first described as a potentially important regulatory protein
            in the dog thyroid and was termed as R2D5 antigen in rabbit.
            Alternative splicing of this gene generates two transcript
            variants. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) 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 :: SRR3476690.961546.1, BC080599.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000588776.8/ ENSP00000465883.2
            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
            1-151               AK226026.1         73-223
            152-908             BC011961.1         1-757
            909-1201            BU689238.1         19-311              c
            1202-1537           AW510425.1         5-340               c
FEATURES             Location/Qualifiers
     source          1..1537
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1537
                     /gene="CAPS"
                     /gene_synonym="CAPS1"
                     /note="calcyphosine"
                     /db_xref="GeneID:828"
                     /db_xref="HGNC:HGNC:1487"
                     /db_xref="MIM:114212"
     exon            1..56
                     /gene="CAPS"
                     /gene_synonym="CAPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            57..161
                     /gene="CAPS"
                     /gene_synonym="CAPS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..648
                     /gene="CAPS"
                     /gene_synonym="CAPS1"
                     /note="isoform a is encoded by transcript variant 1;
                     calcyphosine 1; thyroid protein p24; epididymis secretory
                     sperm binding protein"
                     /codon_start=1
                     /product="calcyphosin isoform a"
                     /protein_id="NP_004049.3"
                     /db_xref="CCDS:CCDS12156.3"
                     /db_xref="GeneID:828"
                     /db_xref="HGNC:HGNC:1487"
                     /db_xref="MIM:114212"
                     /translation="MDAVDATMEKLRAQCLSRGASGIQGLARFFRQLDRDGSRSLDAD
                     EFRQGLAKLGLVLDQAEAEGVCRKWDRNGSGTLDLEEFLRALRPPMSQAREAVIAAAF
                     AKLDRSGDGVVTVDDLRGVYSGRAHPKVRSGEWTEDEVLRRFLDNFDSSEKDGQVTLA
                     EFQDYYSGVSASMNTDEEFVAMMTSAWQL"
     exon            162..339
                     /gene="CAPS"
                     /gene_synonym="CAPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            340..546
                     /gene="CAPS"
                     /gene_synonym="CAPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            547..1537
                     /gene="CAPS"
                     /gene_synonym="CAPS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1178..1183
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPS"
                     /gene_synonym="CAPS1"
                     /note="hexamer: AATAAA"
     polyA_site      1203
                     /gene="CAPS"
                     /gene_synonym="CAPS1"
                     /note="major polyA site"
     regulatory      1494..1499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPS"
                     /gene_synonym="CAPS1"
                     /note="hexamer: AATACA"
     polyA_site      1537
                     /gene="CAPS"
                     /gene_synonym="CAPS1"
                     /note="major polyA site"
ORIGIN      
        1 acaacacagc taacacaagg ccccgcaggc aggactctgg gacagacgca ggccagctgc
       61 ccagagccca gaccaagcat ggacgccgtg gatgccacca tggagaaact ccgggcacag
      121 tgcctgtccc gcggggcctc gggcatccag ggcctggcca ggtttttccg ccaactagac
      181 cgggacggga gcagatccct ggacgctgat gagttccggc agggtctggc caaactcggg
      241 ctggtgctgg accaggcgga ggcagagggt gtgtgcagga agtgggaccg caatggcagc
      301 gggacgctgg atctggagga gttccttcgg gcgctgcggc cccccatgtc ccaggcccgg
      361 gaggctgtca tcgcagctgc atttgccaag ctggaccgca gtggggacgg cgtcgtgacg
      421 gtggacgacc tccgcggggt gtacagtggc cgtgcccacc ccaaggtgcg cagtggggag
      481 tggaccgagg acgaggtgct gcgccgcttc ctggacaact tcgactcctc tgagaaggac
      541 gggcaggtca cactggcgga attccaggac tactacagcg gcgtgagtgc ctccatgaac
      601 acggatgagg agttcgtggc catgatgacc agtgcctggc agctgtgagc agctccggct
      661 cagccctgct gccctggcct gtcactcccc acccctgccg gagacctccc ttccctgggc
      721 cccttctctc ctgggcagcc acaccacaga gcggggaggg gcaggtgggg gaatggaggc
      781 tgcaggactg gctagaccag gtccctgccg gtccaccagg cggaggtggg acaaaggtcc
      841 taacaggagt cactggctca ggaccccagg gagaaacgct ctccccaccc acgccatgct
      901 gaccagagat cttgcagccc ctgtggatgc ccccgccgag gtcccccgat ccccgcaccc
      961 ggactgctgc tccctgcccc tcccttgcgg gtcccccagg aagccaggtg accccaggtg
     1021 ggaggctgtg tgtggaggcc atcctggaag gaagtttaga cctgcccagg tgtggagcga
     1081 ggggcacagg ggcatcctaa cctcagaaac tgaaataaag cctttgaaaa aaaaatctgt
     1141 aaaacatcaa cccccaatca gaagatggca aatggggaat aaaaatagca ggtaacatgt
     1201 ccagcgggcc cagtatctac attctggtga gcggcccgag gctgggagct ctgggcgggg
     1261 gcagaccggc ggggccttgc agcaggggtg ggggtaaagt gcgggtggtg gtggagagaa
     1321 cagggctgtg gctggacccc agcactggtg acacgctggg tgggagcatg aggccccagg
     1381 ctgctggagg tcctcgcccg gggaggtgga ggccgttcct ggtcaggggc ttcctgaggc
     1441 ccctggggca tgcagaggcc agggttttag ttaaaagttt aatgtagttc ccaaatacat
     1501 ttcatatgac aatcttacat aaatgttcca aaacaca
//
