LOCUS       NM_001900                755 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens cystatin D (CST5), mRNA.
ACCESSION   NM_001900
VERSION     NM_001900.5
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 755)
  AUTHORS   Hill,L.J., Di Pietro,V., Hazeldine,J., Davies,D., Toman,E.,
            Logan,A. and Belli,A.
  TITLE     Cystatin D (CST5): An ultra-early inflammatory biomarker of
            traumatic brain injury
  JOURNAL   Sci Rep 7 (1), 5002 (2017)
   PUBMED   28694499
  REMARK    GeneRIF: CST5 has demonstrated the ability to differentiate between
            severely traumatic brain injury (TBI) patients and those with
            either mild or no brain injury within the first hour highlighting
            it as new TBI biomarker.
            Erratum:[Sci Rep. 2018 Mar 12;8(1):4572. doi:
            10.1038/s41598-018-22951-0.. PMID: 29531266]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 755)
  AUTHORS   Ferrer-Mayorga,G., Alvarez-Diaz,S., Valle,N., De Las Rivas,J.,
            Mendes,M., Barderas,R., Canals,F., Tapia,O., Casal,J.I., Lafarga,M.
            and Munoz,A.
  TITLE     Cystatin D locates in the nucleus at sites of active transcription
            and modulates gene and protein expression
  JOURNAL   J Biol Chem 290 (44), 26533-26548 (2015)
   PUBMED   26364852
  REMARK    GeneRIF: These results support an unanticipated role of cystatin D
            in the cell nucleus, controlling the transcription of specific
            genes involved in crucial cellular functions, which may mediate its
            protective action in colon cancer.
REFERENCE   3  (bases 1 to 755)
  AUTHORS   Hunten,S. and Hermeking,H.
  TITLE     p53 directly activates cystatin D/CST5 to mediate
            mesenchymal-epithelial transition: a possible link to tumor
            suppression by vitamin D3
  JOURNAL   Oncotarget 6 (18), 15842-15856 (2015)
   PUBMED   26158294
  REMARK    GeneRIF: Results imply CST5 as an important mediator of tumor
            suppression by p53 in colorectal cancer.
REFERENCE   4  (bases 1 to 755)
  AUTHORS   Ordonez-Moran,P., Alvarez-Diaz,S., Valle,N., Larriba,M.J.,
            Bonilla,F. and Munoz,A.
  TITLE     The effects of 1,25-dihydroxyvitamin D3 on colon cancer cells
            depend on RhoA-ROCK-p38MAPK-MSK signaling
  JOURNAL   J Steroid Biochem Mol Biol 121 (1-2), 355-361 (2010)
   PUBMED   20223287
  REMARK    GeneRIF: activation of the RhoA-ROCK-p38MAPK-MSK signaling pathway
            is essential for the regulation of the phenotype and of the
            CST5/cystatin D candidate tumor suppressor and other target genes
            by 1,25(OH)2D3 in colon cancer cells
REFERENCE   5  (bases 1 to 755)
  AUTHORS   Alvarez-Diaz,S., Valle,N., Garcia,J.M., Pena,C., Freije,J.M.,
            Quesada,V., Astudillo,A., Bonilla,F., Lopez-Otin,C. and Munoz,A.
  TITLE     Cystatin D is a candidate tumor suppressor gene induced by vitamin
            D in human colon cancer cells
  JOURNAL   J Clin Invest 119 (8), 2343-2358 (2009)
   PUBMED   19662683
  REMARK    GeneRIF: Cystatin D is a candidate tumor suppressor gene induced by
            vitamin D in human colon cancer cells.
REFERENCE   6  (bases 1 to 755)
  AUTHORS   Dickinson,D.P., Zhao,Y., Thiesse,M. and Siciliano,M.J.
  TITLE     Direct mapping of seven genes encoding human type 2 cystatins to a
            single site located at 20p11.2
  JOURNAL   Genomics 24 (1), 172-175 (1994)
   PUBMED   7896273
REFERENCE   7  (bases 1 to 755)
  AUTHORS   Balbin,M., Hall,A., Grubb,A., Mason,R.W., Lopez-Otin,C. and
            Abrahamson,M.
  TITLE     Structural and functional characterization of two allelic variants
            of human cystatin D sharing a characteristic inhibition spectrum
            against mammalian cysteine proteinases
  JOURNAL   J Biol Chem 269 (37), 23156-23162 (1994)
   PUBMED   8083219
REFERENCE   8  (bases 1 to 755)
  AUTHORS   Dickinson,D.P., Thiesse,M., Dempsey,L.D. and Millar,S.J.
  TITLE     Genomic cloning, physical mapping, and expression of human type 2
            cystatin genes
  JOURNAL   Crit Rev Oral Biol Med 4 (3-4), 573-580 (1993)
   PUBMED   7690606
REFERENCE   9  (bases 1 to 755)
  AUTHORS   Freije,J.P., Abrahamson,M., Olafsson,I., Velasco,G., Grubb,A. and
            Lopez-Otin,C.
  TITLE     Structure and expression of the gene encoding cystatin D, a novel
            human cysteine proteinase inhibitor
  JOURNAL   J Biol Chem 266 (30), 20538-20543 (1991)
   PUBMED   1939105
REFERENCE   10 (bases 1 to 755)
  AUTHORS   Saitoh,E., Isemura,S., Sanada,K., Kim,H.S., Smithies,O. and
            Maeda,N.
  TITLE     Cystatin superfamily. Evidence that family II cystatin genes are
            evolutionarily related to family III cystatin genes
  JOURNAL   Biol Chem Hoppe Seyler 369 Suppl, 191-197 (1988)
   PUBMED   3202964
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL591074.10, CB985957.1 and
            BC062678.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001900.4.
            
            Summary: The cystatin superfamily encompasses proteins that contain
            multiple cystatin-like sequences. Some of the members are active
            cysteine protease inhibitors, while others have lost or perhaps
            never acquired this inhibitory activity. There are three inhibitory
            families in the superfamily, including the type 1 cystatins
            (stefins), type 2 cystatins and the kininogens. The type 2 cystatin
            proteins are a class of cysteine proteinase inhibitors found in a
            variety of human fluids and secretions. The cystatin locus on
            chromosome 20 contains the majority of the type 2 cystatin genes
            and pseudogenes. This gene is located in the cystatin locus and
            encodes a protein found in saliva and tears. The encoded protein
            may play a protective role against proteinases present in the oral
            cavity. [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 :: BP334786.1, BC062678.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304710.5/ ENSP00000307132.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AL591074.10        170011-170015       c
            6-14                CB985957.1         4-12
            15-754              BC062678.1         7-746
            755-755             AL591074.10        166201-166201       c
FEATURES             Location/Qualifiers
     source          1..755
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..755
                     /gene="CST5"
                     /note="cystatin D"
                     /db_xref="GeneID:1473"
                     /db_xref="HGNC:HGNC:2477"
                     /db_xref="MIM:123858"
     exon            1..303
                     /gene="CST5"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..501
                     /gene="CST5"
                     /note="cystatin 5; cysteine-proteinase inhibitor"
                     /codon_start=1
                     /product="cystatin-D precursor"
                     /protein_id="NP_001891.2"
                     /db_xref="CCDS:CCDS13162.1"
                     /db_xref="GeneID:1473"
                     /db_xref="HGNC:HGNC:2477"
                     /db_xref="MIM:123858"
                     /translation="MMWPMHTPLLLLTALMVAVAGSASAQSRTLAGGIHATDLNDKSV
                     QCALDFAISEYNKVINKDEYYSRPLQVMAAYQQIVGGVNYYFNVKFGRTTCTKSQPNL
                     DNCPFNDQPKLKEEEFCSFQINEVPWEDKISILNYKCRKV"
     exon            304..417
                     /gene="CST5"
                     /inference="alignment:Splign:2.1.0"
     exon            418..755
                     /gene="CST5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      737..742
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CST5"
                     /note="hexamer: ATTAAA"
     polyA_site      755
                     /gene="CST5"
                     /note="major polyA site"
ORIGIN      
        1 gcttcctgcc tcagccttct gctgctttgc tctctgggag atccagctcc ttgctctgtg
       61 tcccagtaga acatgatgtg gcccatgcac accccactgc tgctgctgac tgccttgatg
      121 gtggccgtgg ccgggagtgc ctcggcccaa tctaggacct tggcaggtgg catccatgcc
      181 acagacctca atgacaagag tgtgcagtgt gccctggact ttgccatcag cgagtacaac
      241 aaggtcatta ataaggatga gtactacagc cgccctctgc aggtgatggc tgcctaccag
      301 cagatcgtgg gtggggtgaa ctactacttc aatgtgaagt tcggtcgaac cacatgcacc
      361 aagtcccagc ccaacttgga caactgtccc ttcaatgacc agccaaaact gaaagaggaa
      421 gagttctgct ctttccagat caatgaagtt ccctgggagg ataaaatttc cattctgaac
      481 tacaagtgcc ggaaagtcta ggggtctgtg caaggcctgt cacactgacc acctcctact
      541 cccaccccct gtagtgctcc cacccctgga ctggtggccc ccaccctggg ggaggtctcc
      601 tcatgcgcct gcaccaggag acagacacag aaggtggcag gaggcctttg ttgctcagca
      661 ggaggctctg cccttgctcc ttccttcttg cttctcatag ccccagtgtg cagtgcacac
      721 tctcccacct cctgcaatta aacagtagca ttgcc
//
