LOCUS       NM_000099                793 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens cystatin C (CST3), transcript variant 1, mRNA.
ACCESSION   NM_000099
VERSION     NM_000099.4
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 793)
  AUTHORS   Bergner,C.G., Breur,M., Soto-Bernardini,M.C., Schafer,L., Lier,J.,
            Le Duc,D., Bundalian,L., Schubert,S., Brenner,D., Kreuz,F.R.,
            Schulte,B., Waisfisz,Q., Bugiani,M., Kohler,W., Sticht,H., Abou
            Jamra,R. and van der Knaap,M.S.
  TITLE     Dominant CST3 variants cause adult onset leukodystrophy without
            amyloid angiopathy
  JOURNAL   Brain 147 (10), 3562-3572 (2024)
   PUBMED   38489591
  REMARK    GeneRIF: Dominant CST3 variants cause adult onset leukodystrophy
            without amyloid angiopathy.
REFERENCE   2  (bases 1 to 793)
  AUTHORS   Yang,H., Han,R.Y., Gong,R.W., Zhang,Y.J., Yang,S.S., Xu,G.Z. and
            Liu,W.
  TITLE     CST3 alleviates retinal vascular leakage by regulating the Rap1
            signaling pathway
  JOURNAL   Exp Eye Res 247, 110042 (2024)
   PUBMED   39147193
  REMARK    GeneRIF: CST3 alleviates retinal vascular leakage by regulating the
            Rap1 signaling pathway.
REFERENCE   3  (bases 1 to 793)
  AUTHORS   Jurczak,P., Fayad,N., Benard,M., Czaplewska,P. and Hildebrandt,N.
  TITLE     Monomer-Dimer Equilibrium of Human Cystatin C During
            Internalization Into Cancer Cells
  JOURNAL   Chembiochem 25 (16), e202400226 (2024)
   PUBMED   38761032
  REMARK    GeneRIF: Monomer-Dimer Equilibrium of Human Cystatin C During
            Internalization Into Cancer Cells.
REFERENCE   4  (bases 1 to 793)
  AUTHORS   Blancas-Luciano,B.E., Becker-Fauser,I., Zamora-Chimal,J.,
            Jimenez-Garcia,L., Lara-Martinez,R., Perez-Torres,A., Gonzalez Del
            Pliego,M., Aguirre-Benitez,E.L. and Fernandez-Presas,A.M.
  TITLE     Cystatin C: immunoregulation role in macrophages infected with
            Porphyromonas gingivalis
  JOURNAL   PeerJ 12, e17252 (2024)
   PUBMED   38708345
  REMARK    GeneRIF: Cystatin C: immunoregulation role in macrophages infected
            with Porphyromonas gingivalis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 793)
  AUTHORS   Niu,J., Yu,J., Huang,H., Shi,J., Zheng,D. and Qiu,J.
  TITLE     Cystatin C and eGFRCKD-EPI-CysC: novel biomarkers for renal
            impairment diagnosis and two-year progression-free survival in
            multiple myeloma
  JOURNAL   Scand J Clin Lab Invest 83 (8), 599-603 (2023)
   PUBMED   38145311
  REMARK    GeneRIF: Cystatin C and eGFRCKD-EPI-CysC: novel biomarkers for
            renal impairment diagnosis and two-year progression-free survival
            in multiple myeloma.
REFERENCE   6  (bases 1 to 793)
  AUTHORS   Abrahamson,M., Jonsdottir,S., Olafsson,I., Jensson,O. and Grubb,A.
  TITLE     Hereditary cystatin C amyloid angiopathy: identification of the
            disease-causing mutation and specific diagnosis by polymerase chain
            reaction based analysis
  JOURNAL   Hum Genet 89 (4), 377-380 (1992)
   PUBMED   1352269
REFERENCE   7  (bases 1 to 793)
  AUTHORS   Lindahl,P., Abrahamson,M. and Bjork,I.
  TITLE     Interaction of recombinant human cystatin C with the cysteine
            proteinases papain and actinidin
  JOURNAL   Biochem J 281 (Pt 1) (Pt 1), 49-55 (1992)
   PUBMED   1731767
REFERENCE   8  (bases 1 to 793)
  AUTHORS   Lenarcic,B., Krasovec,M., Ritonja,A., Olafsson,I. and Turk,V.
  TITLE     Inactivation of human cystatin C and kininogen by human cathepsin D
  JOURNAL   FEBS Lett 280 (2), 211-215 (1991)
   PUBMED   2013314
REFERENCE   9  (bases 1 to 793)
  AUTHORS   Abrahamson,M., Mason,R.W., Hansson,H., Buttle,D.J., Grubb,A. and
            Ohlsson,K.
  TITLE     Human cystatin C. role of the N-terminal segment in the inhibition
            of human cysteine proteinases and in its inactivation by leucocyte
            elastase
  JOURNAL   Biochem J 273 (Pt 3) (Pt 3), 621-626 (1991)
   PUBMED   1996959
REFERENCE   10 (bases 1 to 793)
  AUTHORS   Bjorck,L., Grubb,A. and Kjellen,L.
  TITLE     Cystatin C, a human proteinase inhibitor, blocks replication of
            herpes simplex virus
  JOURNAL   J Virol 64 (2), 941-943 (1990)
   PUBMED   2153254
  REMARK    GeneRIF: CST3 exhibits an antimicrobial activity against herpes
            simplex virus.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121894.26.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000099.3.
            
            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 the kininogens. The type 2 cystatin
            proteins are a class of cysteine proteinase inhibitors found in a
            variety of human fluids and secretions, where they appear to
            provide protective functions. 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 the most
            abundant extracellular inhibitor of cysteine proteases, which is
            found in high concentrations in biological fluids and is expressed
            in virtually all organs of the body. A mutation in this gene has
            been associated with amyloid angiopathy. Expression of this protein
            in vascular wall smooth muscle cells is severely reduced in both
            atherosclerotic and aneurysmal aortic lesions, establishing its
            role in vascular disease. In addition, this protein has been shown
            to have an antimicrobial function, inhibiting the replication of
            herpes simplex virus. Alternative splicing results in multiple
            transcript variants encoding a single protein. [provided by RefSeq,
            Nov 2014].
            
            Transcript Variant: This variant (1) differs in the 3' UTR compared
            to variant 2. Variants 1 and 2 encode the same protein.
            
            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 :: SRR1163655.8751.1,
                                           SRR3476690.1069974.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000376925.8/
                                                  ENSP00000366124.3
            Protein has antimicrobial activity :: PMID: 2153254
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-336               AL121894.26        107191-107526       c
            337-450             AL121894.26        104825-104938       c
            451-793             AL121894.26        103228-103570       c
FEATURES             Location/Qualifiers
     source          1..793
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..793
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /note="cystatin C"
                     /db_xref="GeneID:1471"
                     /db_xref="HGNC:HGNC:2475"
                     /db_xref="MIM:604312"
     exon            1..336
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..534
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /note="cystatin 3; gamma-trace; post-gamma-globulin;
                     neuroendocrine basic polypeptide; bA218C14.4 (cystatin C);
                     epididymis secretory protein Li 2"
                     /codon_start=1
                     /product="cystatin-C precursor"
                     /protein_id="NP_000090.1"
                     /db_xref="CCDS:CCDS13158.1"
                     /db_xref="GeneID:1471"
                     /db_xref="HGNC:HGNC:2475"
                     /db_xref="MIM:604312"
                     /translation="MAGPLRAPLLLLAILAVALAVSPAAGSSPGKPPRLVGGPMDASV
                     EEEGVRRALDFAVGEYNKASNDMYHSRALQVVRARKQIVAGVNYFLDVELGRTTCTKT
                     QPNLDNCPFHDQPHLKRKAFCSFQIYAVPWQGTMTLSKSTCQDA"
     exon            337..450
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /inference="alignment:Splign:2.1.0"
     exon            451..793
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      774..779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /note="hexamer: AATAAA"
     polyA_site      793
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /note="major polyA site"
ORIGIN      
        1 acggcctcgc ctcggtatcg cagcgggtcc tctctatcta gctccagcct ctcgcctgcg
       61 ccccactccc cgcgtcccgc gtcctagccg accatggccg ggcccctgcg cgccccgctg
      121 ctcctgctgg ccatcctggc cgtggccctg gccgtgagcc ccgcggccgg ctccagtccc
      181 ggcaagccgc cgcgcctagt gggaggcccc atggacgcca gcgtggagga ggagggtgtg
      241 cggcgtgcac tggactttgc cgtcggcgag tacaacaaag ccagcaacga catgtaccac
      301 agccgcgcgc tgcaggtggt gcgcgcccgc aagcagatcg tagctggggt gaactacttc
      361 ttggacgtgg agctgggccg aaccacgtgt accaagaccc agcccaactt ggacaactgc
      421 cccttccatg accagccaca tctgaaaagg aaagcattct gctctttcca gatctacgct
      481 gtgccttggc agggcacaat gaccttgtcg aaatccacct gtcaggacgc ctaggggtct
      541 gtaccgggct ggcctgtgcc tatcacctct tatgcacacc tcccaccccc tgtattccca
      601 cccctggact ggtggcccct gccttgggga aggtctcccc atgtgcctgc accaggagac
      661 agacagagaa ggcagcaggc ggcctttgtt gctcagcaag gggctctgcc ctccctcctt
      721 ccttcttgct tctcatagcc ccggtgtgcg gtgcatacac ccccacctcc tgcaataaaa
      781 tagtagcatc ggc
//
