LOCUS       NM_004929               2533 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens calbindin 1 (CALB1), transcript variant 1, mRNA.
ACCESSION   NM_004929
VERSION     NM_004929.4
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 2533)
  AUTHORS   Attig,J., Pape,J., Doglio,L., Kazachenka,A., Ottina,E., Young,G.R.,
            Enfield,K.S., Aramburu,I.V., Ng,K.W., Faulkner,N., Bolland,W.,
            Papayannopoulos,V., Swanton,C. and Kassiotis,G.
  TITLE     Human endogenous retrovirus onco-exaptation counters cancer cell
            senescence through calbindin
  JOURNAL   J Clin Invest 133 (14), e164397 (2023)
   PUBMED   37192000
  REMARK    GeneRIF: Human endogenous retrovirus onco-exaptation counters
            cancer cell senescence through calbindin.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2533)
  AUTHORS   Raynard,C., Tessier,N., Huna,A., Warnier,M., Flaman,J.M., Van
            Coppenolle,F., Ducreux,S., Martin,N. and Bernard,D.
  TITLE     Expression of the Calcium-Binding Protein CALB1 Is Induced and
            Controls Intracellular Ca2+ Levels in Senescent Cells
  JOURNAL   Int J Mol Sci 23 (16), 9376 (2022)
   PUBMED   36012633
  REMARK    GeneRIF: Expression of the Calcium-Binding Protein CALB1 Is Induced
            and Controls Intracellular Ca(2+) Levels in Senescent Cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2533)
  AUTHORS   Castrogiovanni,P., Sanfilippo,C., Imbesi,R., Maugeri,G., Lo
            Furno,D., Tibullo,D., Castorina,A., Musumeci,G. and Di Rosa,M.
  TITLE     Brain CHID1 Expression Correlates with NRGN and CALB1 in Healthy
            Subjects and AD Patients
  JOURNAL   Cells 10 (4), 882 (2021)
   PUBMED   33924468
  REMARK    GeneRIF: Brain CHID1 Expression Correlates with NRGN and CALB1 in
            Healthy Subjects and AD Patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2533)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2533)
  AUTHORS   Opperman,L.A., Saunders,T.J., Bruns,D.E., Boyd,J.C., Mills,S.E. and
            Bruns,M.E.
  TITLE     Estrogen inhibits calbindin-D28k expression in mouse uterus
  JOURNAL   Endocrinology 130 (3), 1728-1735 (1992)
   PUBMED   1537319
REFERENCE   6  (bases 1 to 2533)
  AUTHORS   Liu,A.Y. and Abraham,B.A.
  TITLE     Subtractive cloning of a hybrid human endogenous retrovirus and
            calbindin gene in the prostate cell line PC3
  JOURNAL   Cancer Res 51 (15), 4107-4110 (1991)
   PUBMED   1713126
REFERENCE   7  (bases 1 to 2533)
  AUTHORS   Parmentier,M., Passage,E., Vassart,G. and Mattei,M.G.
  TITLE     The human calbindin D28k (CALB1) and calretinin (CALB2) genes are
            located at 8q21.3----q22.1 and 16q22----q23, respectively,
            suggesting a common duplication with the carbonic anhydrase isozyme
            loci
  JOURNAL   Cytogenet Cell Genet 57 (1), 41-43 (1991)
   PUBMED   1906795
REFERENCE   8  (bases 1 to 2533)
  AUTHORS   Parmentier,M., De Vijlder,J.J., Muir,E., Szpirer,C., Islam,M.Q.,
            Geurts van Kessel,A., Lawson,D.E. and Vassart,G.
  TITLE     The human calbindin 27-kDa gene: structural organization of the 5'
            and 3' regions, chromosomal assignment, and restriction fragment
            length polymorphism
  JOURNAL   Genomics 4 (3), 309-319 (1989)
   PUBMED   2565876
REFERENCE   9  (bases 1 to 2533)
  AUTHORS   Seto-Ohshima,A., Emson,P.C., Lawson,E., Mountjoy,C.Q. and
            Carrasco,L.H.
  TITLE     Loss of matrix calcium-binding protein-containing neurons in
            Huntington's disease
  JOURNAL   Lancet 1 (8597), 1252-1255 (1988)
   PUBMED   2897519
REFERENCE   10 (bases 1 to 2533)
  AUTHORS   Parmentier,M., Lawson,D.E. and Vassart,G.
  TITLE     Human 27-kDa calbindin complementary DNA sequence. Evolutionary and
            functional implications
  JOURNAL   Eur J Biochem 170 (1-2), 207-215 (1987)
   PUBMED   3691519
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020864.1 and BX537530.1.
            
            On Nov 23, 2018 this sequence version replaced NM_004929.3.
            
            Summary: The protein encoded by this gene is a member of the
            calcium-binding protein superfamily that includes calmodulin and
            troponin C. Originally described as a 27 kDa protein, it is now
            known to be a 28 kDa protein. It contains four active
            calcium-binding domains, and has two modified domains that are
            thought to have lost their calcium binding capability. This protein
            is thought to buffer entry of calcium upon stimulation of glutamate
            receptors. Depletion of this protein was noted in patients with
            Huntington disease. [provided by RefSeq, Jan 2015].
            
            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 :: SRR3476690.751007.1,
                                           SRR3476690.76913.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265431.7/ ENSP00000265431.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1205              BC020864.1         1-1205
            1206-2533           BX537530.1         4065-5392
FEATURES             Location/Qualifiers
     source          1..2533
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.3"
     gene            1..2533
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /note="calbindin 1"
                     /db_xref="GeneID:793"
                     /db_xref="HGNC:HGNC:1434"
                     /db_xref="MIM:114050"
     exon            1..261
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /inference="alignment:Splign:2.1.0"
     CDS             183..968
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /note="isoform 1 is encoded by transcript variant 1;
                     calbindin 1, (28kD); RTVL-H protein; calbindin D28;
                     vitamin D-dependent calcium-binding protein, avian-type;
                     calbindin 1, 28kDa; calbindin 27; calbindin-D28k"
                     /codon_start=1
                     /product="calbindin isoform 1"
                     /protein_id="NP_004920.1"
                     /db_xref="CCDS:CCDS6251.1"
                     /db_xref="GeneID:793"
                     /db_xref="HGNC:HGNC:1434"
                     /db_xref="MIM:114050"
                     /translation="MAESHLQSSLITASQFFEIWLHFDADGSGYLEGKELQNLIQELQ
                     QARKKAGLELSPEMKTFVDQYGQRDDGKIGIVELAHVLPTEENFLLLFRCQQLKSCEE
                     FMKTWRKYDTDHSGFIETEELKNFLKDLLEKANKTVDDTKLAEYTDLMLKLFDSNNDG
                     KLELTEMARLLPVQENFLLKFQGIKMCGKEFNKAFELYDQDGNGYIDENELDALLKDL
                     CEKNKQDLDINNITTYKKNIMALSDGGKLYRTDLALILCAGDN"
     exon            262..338
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /inference="alignment:Splign:2.1.0"
     exon            339..413
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /inference="alignment:Splign:2.1.0"
     exon            414..497
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /inference="alignment:Splign:2.1.0"
     exon            498..554
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /inference="alignment:Splign:2.1.0"
     exon            555..632
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /inference="alignment:Splign:2.1.0"
     exon            633..688
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /inference="alignment:Splign:2.1.0"
     exon            689..728
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /inference="alignment:Splign:2.1.0"
     exon            729..782
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /inference="alignment:Splign:2.1.0"
     exon            783..854
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /inference="alignment:Splign:2.1.0"
     exon            855..2533
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1744..1749
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /note="hexamer: ATTAAA"
     polyA_site      1763
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /note="major polyA site"
     regulatory      2511..2516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
                     /note="hexamer: AATAAA"
     polyA_site      2533
                     /gene="CALB1"
                     /gene_synonym="CALB; D-28K"
ORIGIN      
        1 agggagagaa ctctggagga acgctgagct gagcagcacc gaggacagcg cccggcagcg
       61 cccgcgccca ggtctccctc cgcagccctg actcgcgcac acgctgagct tttgctcact
      121 ccccctcgcg cggacacaga cacacgcata ttcacacacc cagacacaca ccccgctgta
      181 caatggcaga atcccacctg cagtcatccc tcatcacagc ctcacagttt ttcgagatct
      241 ggctccattt cgacgctgac ggaagtggtt acctggaagg aaaggagctg cagaacttga
      301 tccaggagct ccagcaggcg cgaaagaagg ctggattgga gttatcacct gaaatgaaaa
      361 cttttgtgga tcagtatggg caaagagatg atggaaaaat aggaattgta gagttggctc
      421 acgtattacc cacagaagag aatttcctgc tgctcttccg atgccagcag ctgaagtcct
      481 gtgaggaatt catgaagaca tggagaaaat atgatactga ccacagtggc ttcatagaaa
      541 ctgaggagct taagaacttt ctaaaggacc tgctagaaaa agcaaacaag actgttgatg
      601 acacaaaatt agccgagtat acagacctaa tgctgaaact atttgattca aataatgatg
      661 ggaagctgga attaactgag atggccaggt tactaccagt gcaggagaat tttcttctta
      721 aattccaggg aatcaaaatg tgtgggaaag agttcaataa ggcttttgag ctgtatgatc
      781 aggacggcaa tggatacata gatgaaaatg aactggatgc tttactgaag gatctgtgcg
      841 agaagaataa acaggatctg gatattaata atattacaac atacaagaag aacataatgg
      901 ctttgtcgga tggagggaag ctgtaccgaa cggatcttgc tcttattctc tgtgctgggg
      961 ataactagag ttggtggccg caaccacttg ctagtgatac actgtatcta aaaaataact
     1021 gtgcactata agggagtagg ctgtattttc ttttatatct gtaaatttaa ctgcatatag
     1081 ataattatcc aggatgtgtg gctcattctt ttcagcttgt ttctatactg tttgtaatat
     1141 acagtttttg taaccatatg attgaaaaga agaaagtcta tgcttaggcc agtcagtaca
     1201 cccaatttta aaaaataaca tattcttgct ttcacaaata tagttgaaca agatttccct
     1261 aaaaattcca ccaggattaa tctctaaaat tctagtctct gatttgcaaa tgcacatttg
     1321 tcactgaata atggaattat gtataacaag ccaaacattc ttattttaga caaccataga
     1381 actgtcccac aaaatatttc taagcttatt tctaactatt aggaggaatg tgcttttcca
     1441 tctaaaatac tcaccaaaat atagttaatt gtggctttat gaagttaaca gtctcattac
     1501 agatttagtt taccaatcaa cagcatgtct actgcttgga tccatacaaa actatcggtt
     1561 caagttgatg tgacaaggga agggagcacc agatgacaca taaatctgtc tgattctatg
     1621 cctgtatttc caacaaactt actgtcagag aatatgacct aaatccattt tctaaactgt
     1681 tttcatgtgt tgcaaattat tctagtcaac tgctgtttta tgtcatactc tgtgtaatct
     1741 ctgattaaat ttaatatact gcatatcctg gtgtctagtt tgcatacttc ctggattttc
     1801 tttctatgta gaactgttca tttccaccaa gggtatctgc tgcctctgaa aatatttttt
     1861 tctagctata acaactctat tttttactac ataattaaat tttaatgtaa aattcatagc
     1921 atcctgatta ttgaatgtta tatcatcaat acttttgtgt attctgtgga ttctatattt
     1981 catattgaga tcagcattca aaatagttct atttctatct gcaaatagtt tcaaatgagt
     2041 ttaaaaaaat aacatctgaa aagaaatgct aatgtaatca tttatcttat ctagcaagaa
     2101 gattctaaaa cattctttaa catacatcta agtcagtttc acatatttgt agctagaata
     2161 tcctatactg gttatagttg atatgtaaca gttggtgatt ttagatttct ttgattgtga
     2221 aacagggagc tatgagagat gtgtccatgt gaaatttaca gttactgcct aggagttaat
     2281 gatcgttctg ggtcagcttg aatgtcccca ttctataaat tcaacactta ttttctgaat
     2341 tcataaaaat aaccaaaaaa tgtgagctat aatgtttccc tcaagaacaa acagaaacga
     2401 gatttgccaa aaactaaaat tcaacaaatg atgttgagtg ggagattggc tttgccttta
     2461 gcgtgtaaat ggaagcactg ccattagact gaatttaact actaagaata aataaagaag
     2521 aaaataacct taa
//
