LOCUS       NM_004414               2503 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant
            1, mRNA.
ACCESSION   NM_004414
VERSION     NM_004414.7
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 2503)
  AUTHORS   Shu,S., Cui,H., Liu,Z., Zhang,H., Yang,Y., Chen,X., Zeng,Z., Du,L.,
            Fu,M., Yang,Z., Wang,P., Wang,C., Gao,H., Yang,Q., Lin,X., Yang,T.,
            Chen,Z., Wu,S., Wang,X., Zhao,R., Hu,S. and Song,J.
  TITLE     Suppression of RCAN1 alleviated lipid accumulation and
            mitochondrial fission in diabetic cardiomyopathy
  JOURNAL   Metabolism 158, 155977 (2024)
   PUBMED   39053690
  REMARK    GeneRIF: Suppression of RCAN1 alleviated lipid accumulation and
            mitochondrial fission in diabetic cardiomyopathy.
REFERENCE   2  (bases 1 to 2503)
  AUTHORS   Yang,Z., Deng,X., Wen,D., Sun,L., An,R. and Xu,J.
  TITLE     Identification of RCAN1's role in hepatocellular carcinoma using
            single-cell analysis
  JOURNAL   BMC Cancer 24 (1), 1056 (2024)
   PUBMED   39192218
  REMARK    GeneRIF: Identification of RCAN1's role in hepatocellular carcinoma
            using single-cell analysis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2503)
  AUTHORS   Huang,X., Wang,Z., Song,M., Huan,H., Cai,Z., Wu,B., Shen,J.,
            Zhou,Y.L. and Shi,J.
  TITLE     CircIQGAP1 regulates RCAN1 and RCAN2 through the mechanism of ceRNA
            and promotes the growth of malignant glioma
  JOURNAL   Pharmacol Res 197, 106979 (2023)
   PUBMED   37918583
  REMARK    GeneRIF: CircIQGAP1 regulates RCAN1 and RCAN2 through the mechanism
            of ceRNA and promotes the growth of malignant glioma.
            Erratum:[Pharmacol Res. 2024 Jan;199:107021. doi:
            10.1016/j.phrs.2023.107021.. PMID: 38042685]
REFERENCE   4  (bases 1 to 2503)
  AUTHORS   Khanal,T., Rajan,N., Li,W., Liyanarachchi,S. and Ringel,M.D.
  TITLE     The RCAN1.4 Metastasis Suppressor Is Hypermethylated at Intron 1 in
            Thyroid Cancer
  JOURNAL   Thyroid 33 (8), 965-973 (2023)
   PUBMED   37051697
  REMARK    GeneRIF: The RCAN1.4 Metastasis Suppressor Is Hypermethylated at
            Intron 1 in Thyroid Cancer.
REFERENCE   5  (bases 1 to 2503)
  AUTHORS   Li,Y., Costiniti,V., Souza Bomfim,G.H., Neginskaya,M., Son,G.Y.,
            Rothermel,B., Pavlov,E. and Lacruz,R.S.
  TITLE     Overexpression of RCAN1, a Gene on Human Chromosome 21, Alters Cell
            Redox and Mitochondrial Function in Enamel Cells
  JOURNAL   Cells 11 (22), 3576 (2022)
   PUBMED   36429004
  REMARK    GeneRIF: Overexpression of RCAN1, a Gene on Human Chromosome 21,
            Alters Cell Redox and Mitochondrial Function in Enamel Cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2503)
  AUTHORS   Ermak,G., Morgan,T.E. and Davies,K.J.
  TITLE     Chronic overexpression of the calcineurin inhibitory gene DSCR1
            (Adapt78) is associated with Alzheimer's disease
  JOURNAL   J Biol Chem 276 (42), 38787-38794 (2001)
   PUBMED   11483593
REFERENCE   7  (bases 1 to 2503)
  AUTHORS   Fuentes,J.J., Genesca,L., Kingsbury,T.J., Cunningham,K.W.,
            Perez-Riba,M., Estivill,X. and de la Luna,S.
  TITLE     DSCR1, overexpressed in Down syndrome, is an inhibitor of
            calcineurin-mediated signaling pathways
  JOURNAL   Hum Mol Genet 9 (11), 1681-1690 (2000)
   PUBMED   10861295
  REMARK    GeneRIF: RCAN1 interacts with the catalytic subunit (calcineurin A)
            of the phosphatase calcineurin
REFERENCE   8  (bases 1 to 2503)
  AUTHORS   Rothermel,B., Vega,R.B., Yang,J., Wu,H., Bassel-Duby,R. and
            Williams,R.S.
  TITLE     A protein encoded within the Down syndrome critical region is
            enriched in striated muscles and inhibits calcineurin signaling
  JOURNAL   J Biol Chem 275 (12), 8719-8725 (2000)
   PUBMED   10722714
REFERENCE   9  (bases 1 to 2503)
  AUTHORS   Fuentes,J.J., Pritchard,M.A. and Estivill,X.
  TITLE     Genomic organization, alternative splicing, and expression patterns
            of the DSCR1 (Down syndrome candidate region 1) gene
  JOURNAL   Genomics 44 (3), 358-361 (1997)
   PUBMED   9325060
REFERENCE   10 (bases 1 to 2503)
  AUTHORS   Fuentes,J.J., Pritchard,M.A., Planas,A.M., Bosch,A., Ferrer,I. and
            Estivill,X.
  TITLE     A new human gene from the Down syndrome critical region encodes a
            proline-rich protein highly expressed in fetal brain and heart
  JOURNAL   Hum Mol Genet 4 (10), 1935-1944 (1995)
   PUBMED   8595418
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY325903.1 and AI079710.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004414.6.
            
            Summary: The protein encoded by this gene interacts with
            calcineurin A and inhibits calcineurin-dependent signaling
            pathways, possibly affecting central nervous system development.
            This gene is located in the minimal candidate region for the Down
            syndrome phenotype, and is overexpressed in the brain of Down
            syndrome fetuses. Chronic overexpression of this gene may lead to
            neurofibrillary tangles such as those associated with Alzheimer
            disease. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Nov 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: AY325903.1, AK092184.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313806.9/ ENSP00000320768.4
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2455              AY325903.1         22-2476
            2456-2503           AI079710.1         5-52                c
FEATURES             Location/Qualifiers
     source          1..2503
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.12"
     gene            1..2503
                     /gene="RCAN1"
                     /gene_synonym="ADAPT78; CSP1; DSC1; DSCR1; MCIP1; RCN1"
                     /note="regulator of calcineurin 1"
                     /db_xref="GeneID:1827"
                     /db_xref="HGNC:HGNC:3040"
                     /db_xref="MIM:602917"
     exon            1..354
                     /gene="RCAN1"
                     /gene_synonym="ADAPT78; CSP1; DSC1; DSCR1; MCIP1; RCN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             103..861
                     /gene="RCAN1"
                     /gene_synonym="ADAPT78; CSP1; DSC1; DSCR1; MCIP1; RCN1"
                     /note="isoform a is encoded by transcript variant 1; Down
                     syndrome candidate region 1; Down syndrome critical region
                     gene 1; myocyte-enriched calcineurin-interacting protein
                     1; modulatory calcineurin-interacting protein 1;
                     calcipressin-1; near DSCR proline-rich protein; calcium
                     and oxidant-inducible mRNA"
                     /codon_start=1
                     /product="calcipressin-1 isoform a"
                     /protein_id="NP_004405.3"
                     /db_xref="CCDS:CCDS13637.1"
                     /db_xref="GeneID:1827"
                     /db_xref="HGNC:HGNC:3040"
                     /db_xref="MIM:602917"
                     /translation="MEDGVAGPQLGAAAEAAEAAEARARPGVTLRPFAPLSGAAEADE
                     GGGDWSFIDCEMEEVDLQDLPSATIACHLDPRVFVDGLCRAKFESLFRTYDKDITFQY
                     FKSFKRVRINFSNPFSAADARLQLHKTEFLGKEMKLYFAQTLHIGSSHLAPPNPDKQF
                     LISPPASPPVGWKQVEDATPVINYDLLYAISKLGPGEKYELHAATDTTPSVVVHVCES
                     DQEKEEEEEMERMRRPKPKIIQTRRPEYTPIHLS"
     exon            355..528
                     /gene="RCAN1"
                     /gene_synonym="ADAPT78; CSP1; DSC1; DSCR1; MCIP1; RCN1"
                     /inference="alignment:Splign:2.1.0"
     exon            529..688
                     /gene="RCAN1"
                     /gene_synonym="ADAPT78; CSP1; DSC1; DSCR1; MCIP1; RCN1"
                     /inference="alignment:Splign:2.1.0"
     exon            689..2503
                     /gene="RCAN1"
                     /gene_synonym="ADAPT78; CSP1; DSC1; DSCR1; MCIP1; RCN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2429..2434
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RCAN1"
                     /gene_synonym="ADAPT78; CSP1; DSC1; DSCR1; MCIP1; RCN1"
                     /note="hexamer: AATAAA"
     polyA_site      2461
                     /gene="RCAN1"
                     /gene_synonym="ADAPT78; CSP1; DSC1; DSCR1; MCIP1; RCN1"
                     /note="major polyA site"
     regulatory      2481..2486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RCAN1"
                     /gene_synonym="ADAPT78; CSP1; DSC1; DSCR1; MCIP1; RCN1"
                     /note="hexamer: AATAAA"
     polyA_site      2503
                     /gene="RCAN1"
                     /gene_synonym="ADAPT78; CSP1; DSC1; DSCR1; MCIP1; RCN1"
ORIGIN      
        1 aacggcggag ccgccggccg ggcgcggacc ggagcgcgtg aggctccggc gcgcaagccc
       61 ggagcagccc gctggggcgc acagggtcgc gcgggcgcgg ggatggagga cggcgtggcc
      121 ggtccccagc tcggggccgc ggcggaggcg gcggaggcgg ccgaggcgcg agcgcggccc
      181 ggggtgacgc tgcggccctt cgcgcccctc tcgggggcgg ccgaggcgga cgagggcggc
      241 ggcgactgga gcttcattga ctgcgagatg gaggaggtgg acctgcagga cctgcccagc
      301 gccaccatcg cctgtcacct ggacccgcgc gtgttcgtgg acggcctgtg ccgggccaaa
      361 tttgagtccc tctttaggac gtatgacaag gacatcacct ttcagtattt taagagcttc
      421 aaacgagtca gaataaactt cagcaacccc ttctccgcag cagatgccag gctccagctg
      481 cataagactg agtttctggg aaaggaaatg aagttatatt ttgctcagac cttacacata
      541 ggaagctcac acctggctcc gccaaatcca gacaagcagt ttctgatctc ccctcccgcc
      601 tctccgccag tgggatggaa acaagtggaa gatgcgaccc cagtcataaa ctatgatctc
      661 ttatatgcca tctccaagct ggggccaggg gaaaagtatg aattgcacgc agcgactgac
      721 accactccca gcgtggtggt ccatgtatgt gagagtgatc aagagaagga ggaagaagag
      781 gaaatggaaa gaatgaggag acctaagcca aaaattatcc agaccaggag gccggagtac
      841 acgccgatcc acctcagctg aactggcacg cgacgaggac gcattccaaa tcatactcac
      901 gggaggaatc ttttactgtg gaggtggctg gtcacgactt cttcggaggt ggcagccgag
      961 atcggggtgg cagaaatccc agttcatgtt gctcagaaga gaatcaaggc cgtgtcccct
     1021 tgttctaatg ctgcacacca gttactgttc atggcacccg ggaatgactt gggccaatca
     1081 ctgagtttgt ggtgatcgca caaggacatt tgggactgtc ttgagaaaac agataatgat
     1141 agtgttttgt acttgttctt ttctggtagg ttctgtctgt gccaagggca ggttgatcag
     1201 tgagctcagg agagagcttc ctgtttctaa gtggcctgca ggggccactc tctactggta
     1261 ggaagaggta ccacaggaag ccgcctagtg cagagaggtt gtgaaaacag cagcaatgca
     1321 atgtggaaat tgtagcgttt cctttcttcc ctcatgttct catgtttgtg catgtatatt
     1381 actgatttac aagactaacc tttgttcgta tataaagtta caccgttgtt gttttacatc
     1441 ttttgggaag ccaggaaagc gtttggaaaa cgtatcacct ttcccagatt ctcggattct
     1501 cgactctttg caacagcact tgcttgcgga actcttcctg gaatgcattc actcagcatc
     1561 cccaaccgtg caacgtgtaa cttgtgcttt tgcaaaagaa gttgatctga aattcctctg
     1621 tagaatttag cttatacaat tcagagaata gcagtttcac tgccaacttt tagtgggtga
     1681 gaaattttag tttaggtgtt tgggatcgga cctcagtttc tgttgtttct tttatgtggt
     1741 ggtttctata catgaatcat agccaaaaac ttttttggaa actgttggtt gagatagttg
     1801 gttcttttac cccacgaaga catcaagata cacttgtaaa taaagctgat agcatatatt
     1861 catacctgtt gtacacttgg gtgaaaagta tggcagtggg agactaagat gtattaacct
     1921 acctgtgaat catatgttgt aggaaaagct gttcccatgt ctaacaggac ttgaattcaa
     1981 agcatgtcaa gtggatagta gatctgtggc gatatgagag ggatgcagtg cctttcccca
     2041 ttcattcctg atggaattgt tatactaggt taacatttgt aatttttttc tagttgtaat
     2101 gtgtatgtct ggtaaatagg tattatattt tggccttaca ataccgtaac aatgtttgtc
     2161 attttgaaat acttaatgcc aagtaacaat gcatgctttg gaaatttgga agatggtttt
     2221 attctttgag aagcaaatat gtttgcatta aatgctttga ttgttcatat caagaaattg
     2281 attgaacgtt ctcaaaccct gtttacggta cttggtaaga gggagccggt ttgggagaga
     2341 ccattgcatc gctgtccaag tgtttcttgt taagtgcttt taaactggag aggctaacct
     2401 caaaatattt tttttaactg cattctataa taaatgggca cagtatgctc cttacagaaa
     2461 agttgtcatt ttatttctag aataaatctg tgaaccttct aaa
//
