LOCUS       NM_000100                588 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens cystatin B (CSTB), mRNA.
ACCESSION   NM_000100
VERSION     NM_000100.4
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 588)
  AUTHORS   Ye,D., Duan,X., Guan,B., Yuan,J., Zhu,Y., Shi,J., Lu,Q. and Xu,G.
  TITLE     Biomarker cystatin B expression correlates with pathogenesis in
            cervical cancer
  JOURNAL   J Int Med Res 52 (3), 3000605241233959 (2024)
   PUBMED   38436260
  REMARK    GeneRIF: Biomarker cystatin B expression correlates with
            pathogenesis in cervical cancer.
REFERENCE   2  (bases 1 to 588)
  AUTHORS   Singh,S. and Hamalainen,R.H.
  TITLE     The Roles of Cystatin B in the Brain and Pathophysiological
            Mechanisms of Progressive Myoclonic Epilepsy Type 1
  JOURNAL   Cells 13 (2), 170 (2024)
   PUBMED   38247861
  REMARK    GeneRIF: The Roles of Cystatin B in the Brain and
            Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy
            Type 1.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 588)
  AUTHORS   Opsteen,S., Moylan,D., Taiwo,B.O., Robertson,K.R., Overton,E.T.,
            Cutter,G.R., Sabbaj,S., Heath,S.L. and Shacka,J.J.
  TITLE     Brief Report: Intracellular Cystatin B Levels Are Altered in
            HIV-Infected Participants With Respect to Neurocognitive Status and
            Antiretroviral Therapy
  JOURNAL   J Acquir Immune Defic Syndr 91 (5), 485-489 (2022)
   PUBMED   36083516
  REMARK    GeneRIF: Brief Report: Intracellular Cystatin B Levels Are Altered
            in HIV-Infected Participants With Respect to Neurocognitive Status
            and Antiretroviral Therapy.
REFERENCE   4  (bases 1 to 588)
  AUTHORS   Borges-Velez,G., Arroyo,J.A., Cantres-Rosario,Y.M., Rodriguez de
            Jesus,A., Roche-Lima,A., Rosado-Philippi,J.,
            Rosario-Rodriguez,L.J., Correa-Rivas,M.S., Campos-Rivera,M. and
            Melendez,L.M.
  TITLE     Decreased CSTB, RAGE, and Axl Receptor Are Associated with Zika
            Infection in the Human Placenta
  JOURNAL   Cells 11 (22), 3627 (2022)
   PUBMED   36429055
  REMARK    GeneRIF: Decreased CSTB, RAGE, and Axl Receptor Are Associated with
            Zika Infection in the Human Placenta.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 588)
  AUTHORS   Huang,C., Ai,X., Hu,L. and Ren,D.
  TITLE     The Role of NMP22 and CSTB Levels in Predicting Postoperative
            Recurrence of Bladder Cancer
  JOURNAL   J Immunol Res 2022, 6735310 (2022)
   PUBMED   35647202
  REMARK    GeneRIF: The Role of NMP22 and CSTB Levels in Predicting
            Postoperative Recurrence of Bladder Cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 588)
  AUTHORS   Lehesjoki,A.E. and Kalviainen,R.
  TITLE     Progressive Myoclonic Epilepsy Type 1
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301321
REFERENCE   7  (bases 1 to 588)
  AUTHORS   Turk,V. and Bode,W.
  TITLE     The cystatins: protein inhibitors of cysteine proteinases
  JOURNAL   FEBS Lett 285 (2), 213-219 (1991)
   PUBMED   1855589
  REMARK    Review article
REFERENCE   8  (bases 1 to 588)
  AUTHORS   Stubbs,M.T., Laber,B., Bode,W., Huber,R., Jerala,R., Lenarcic,B.
            and Turk,V.
  TITLE     The refined 2.4 A X-ray crystal structure of recombinant human
            stefin B in complex with the cysteine proteinase papain: a novel
            type of proteinase inhibitor interaction
  JOURNAL   EMBO J 9 (6), 1939-1947 (1990)
   PUBMED   2347312
REFERENCE   9  (bases 1 to 588)
  AUTHORS   Jerala,R., Trstenjak,M., Lenarcic,B. and Turk,V.
  TITLE     Cloning a synthetic gene for human stefin B and its expression in
            E. coli
  JOURNAL   FEBS Lett 239 (1), 41-44 (1988)
   PUBMED   3053245
REFERENCE   10 (bases 1 to 588)
  AUTHORS   Jarvinen,M., Rinne,A. and Hopsu-Havu,V.K.
  TITLE     Human cystatins in normal and diseased tissues--a review
  JOURNAL   Acta Histochem 82 (1), 5-18 (1987)
   PUBMED   3122506
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC003370.1.
            
            On Nov 21, 2019 this sequence version replaced NM_000100.3.
            
            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 kininogens. This gene encodes a
            stefin that functions as an intracellular thiol protease inhibitor.
            The protein is able to form a dimer stabilized by noncovalent
            forces, inhibiting papain and cathepsins l, h and b. The protein is
            thought to play a role in protecting against the proteases leaking
            from lysosomes. Evidence indicates that mutations in this gene are
            responsible for the primary defects in patients with progressive
            myoclonic epilepsy (EPM1). One type of mutation responsible for
            EPM1 is the expansion in the promoter region of this gene of a
            CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by
            RefSeq, Jul 2016].
            
            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 :: BE794956.1, BQ691925.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291568.7/ ENSP00000291568.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-588               BC003370.1         6-593
FEATURES             Location/Qualifiers
     source          1..588
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..588
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /note="cystatin B"
                     /db_xref="GeneID:1476"
                     /db_xref="HGNC:HGNC:2482"
                     /db_xref="MIM:601145"
     exon            1..105
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..336
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /note="liver thiol proteinase inhibitor; cystatin B
                     (stefin B); epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="cystatin-B"
                     /protein_id="NP_000091.1"
                     /db_xref="CCDS:CCDS13701.1"
                     /db_xref="GeneID:1476"
                     /db_xref="HGNC:HGNC:2482"
                     /db_xref="MIM:601145"
                     /translation="MMCGAPSATQPATAETQHIADQVRSQLEEKENKKFPVFKAVSFK
                     SQVVAGTNYFIKVHVGDEDFVHLRVFQSLPHENKPLTLSNYQTNKAKHDELTYF"
     exon            106..207
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /inference="alignment:Splign:2.1.0"
     exon            208..588
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      564..569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /note="hexamer: AATAGA"
     polyA_site      588
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /note="major polyA site"
ORIGIN      
        1 gccgagtccc ctcgccagat tccctccgtc gccgccaaga tgatgtgcgg ggcgccctcc
       61 gccacgcagc cggccaccgc cgagacccag cacatcgccg accaggtgag gtcccagctt
      121 gaagagaaag aaaacaagaa gttccctgtg tttaaggccg tgtcattcaa gagccaggtg
      181 gtcgcgggga caaactactt catcaaggtg cacgtcggcg acgaggactt cgtacacctg
      241 cgagtgttcc aatctctccc tcatgaaaac aagcccttga ccttatctaa ctaccagacc
      301 aacaaagcca agcatgatga gctgacctat ttctgatcct gactttggac aaggcccttc
      361 agccagaaga ctgacaaagt catcctccgt ctaccagagc gtgcacttgt gatcctaaaa
      421 taagcttcat ctccgggctg tgccccttgg ggtggaaggg gcaggattct gcagctgctt
      481 ttgcatttct cttcctaaat ttcattgtgt tgatttcttt ccttcccaat aggtgatctt
      541 aattactttc agaatatttt caaaatagat atatttttaa aatcctta
//
