LOCUS       NM_005492                894 bp    mRNA    linear   PRI 10-SEP-2020
DEFINITION  Homo sapiens cystatin 8 (CST8), transcript variant 1, mRNA.
ACCESSION   NM_005492
VERSION     NM_005492.4
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 894)
  AUTHORS   Frygelius J, Arvestad L, Wedell A and Tohonen V.
  TITLE     Evolution and human tissue expression of the Cres/Testatin subgroup
            genes, a reproductive tissue specific subgroup of the type 2
            cystatins
  JOURNAL   Evol. Dev. 12 (3), 329-342 (2010)
   PUBMED   20565543
  REMARK    GeneRIF: We show with phylogenetic relations that the CTES genes
            are clustered into three original groups, a testatin, a Cres, and a
            CstL1 group
REFERENCE   2  (bases 1 to 894)
  AUTHORS   Wassler M, Syntin P, Sutton-Walsh HG, Hsia N, Hardy DM and Cornwall
            GA.
  TITLE     Identification and characterization of cystatin-related epididymal
            spermatogenic protein in human spermatozoa: localization in the
            equatorial segment
  JOURNAL   Biol. Reprod. 67 (3), 795-803 (2002)
   PUBMED   12193387
  REMARK    GeneRIF: studies show that cystatin-related epididymal
            spermatogenic protein is present in the sperm equatorial segment
            and becomes accessible to the extracellular environment during
            fertilization
REFERENCE   3  (bases 1 to 894)
  AUTHORS   Cornwall GA, Hsia N and Sutton HG.
  TITLE     Structure, alternative splicing and chromosomal localization of the
            cystatin-related epididymal spermatogenic gene
  JOURNAL   Biochem. J. 340 (Pt 1), 85-93 (1999)
   PUBMED   10229662
REFERENCE   4  (bases 1 to 894)
  AUTHORS   Brown WM and Dziegielewska KM.
  TITLE     Friends and relations of the cystatin superfamily--new members and
            their evolution
  JOURNAL   Protein Sci. 6 (1), 5-12 (1997)
   PUBMED   9007972
  REMARK    Review article
REFERENCE   5  (bases 1 to 894)
  AUTHORS   Dickinson DP, Zhao Y, Thiesse M and Siciliano MJ.
  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   6  (bases 1 to 894)
  AUTHORS   Thiesse M, Millar SJ and Dickinson DP.
  TITLE     The human type 2 cystatin gene family consists of eight to nine
            members, with at least seven genes clustered at a single locus on
            human chromosome 20
  JOURNAL   DNA Cell Biol. 13 (2), 97-116 (1994)
   PUBMED   8179826
REFERENCE   7  (bases 1 to 894)
  AUTHORS   Dickinson DP, Thiesse M, Dempsey LD and Millar SJ.
  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   8  (bases 1 to 894)
  AUTHORS   Saitoh E, Isemura S, Sanada K, Kim HS, 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 AA436982.1, AF059244.1,
            AL109954.15 and AW665128.1.
            
            On May 17, 2019 this sequence version replaced NM_005492.3.
            
            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. 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 similar to type 2 cystatins. The encoded protein
            exhibits highly tissue-specific expression in the reproductive
            tract, suggesting implicit roles in reproduction. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.398823.1, GQ891394.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000246012.2/ ENSP00000246012.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AA436982.1         17-28
            13-150              AF059244.1         9-146
            151-151             AL109954.15        34404-34404
            152-455             AF059244.1         147-450
            456-456             AL109954.15        34891-34891
            457-894             AW665128.1         14-451              c
FEATURES             Location/Qualifiers
     source          1..894
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..894
                     /gene="CST8"
                     /gene_synonym="CRES; CTES5"
                     /note="cystatin 8"
                     /db_xref="GeneID:10047"
                     /db_xref="HGNC:HGNC:2480"
                     /db_xref="MIM:608683"
     exon            1..226
                     /gene="CST8"
                     /gene_synonym="CRES; CTES5"
                     /inference="alignment:Splign:2.1.0"
     exon            227..600
                     /gene="CST8"
                     /gene_synonym="CRES; CTES5"
                     /inference="alignment:Splign:2.1.0"
     CDS             370..798
                     /gene="CST8"
                     /gene_synonym="CRES; CTES5"
                     /note="cystatin 8 (cystatin-related epididymal specific);
                     cystatin-related epididymal spermatogenic protein;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="cystatin-8 precursor"
                     /protein_id="NP_005483.1"
                     /db_xref="CCDS:CCDS13156.1"
                     /db_xref="GeneID:10047"
                     /db_xref="HGNC:HGNC:2480"
                     /db_xref="MIM:608683"
                     /translation="MPRCRWLSLILLTIPLALVARKDPKKNETGVLRKLKPVNASNAN
                     VKQCLWFAMQEYNKESEDKYVFLVVKTLQAQLQVTNLLEYLIDVEIARSDCRKPLSTN
                     EICAIQENSKLKRKLSCSFLVGALPWNGEFTVMEKKCEDA"
     exon            601..714
                     /gene="CST8"
                     /gene_synonym="CRES; CTES5"
                     /inference="alignment:Splign:2.1.0"
     exon            715..894
                     /gene="CST8"
                     /gene_synonym="CRES; CTES5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      848..853
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CST8"
                     /gene_synonym="CRES; CTES5"
                     /note="hexamer: AATGAA"
     polyA_site      894
                     /gene="CST8"
                     /gene_synonym="CRES; CTES5"
                     /note="major polyA site"
ORIGIN      
        1 agagaccctt gactgggcca caggcatgaa ctaagagtgc tgaagaccta ggagaaccac
       61 tggtcaggtc agctcccagc tccacaggga gtaagaagga gctgcaggca cagcaggctg
      121 aaagtccacc aagggctgag gccacaaggc ctctggggca gccacagttt tcatgatcac
      181 atcatacagg actgagaagc agataacaag agtgacgctc acagggctgg gctgacgcta
      241 acaggaggca gtgtgtggct cgaagattct tgaacccaca gcagcagctg cggccacccc
      301 atcctgccca cagctccagc cctgagacga cgaggaggag agtcgacttt gcctcttgcc
      361 caagggacca tgcccaggtg ccggtggctc tccctgatcc tcctcaccat tcccctggcc
      421 ctggtggcca ggaaagaccc aaaaaagaat gagacagggg tgctgaggaa attaaaaccc
      481 gtcaatgcct caaatgccaa cgtgaagcag tgtctgtggt ttgccatgca agaatacaac
      541 aaagagagcg aggacaagta tgtcttcctg gtggtcaaga cactgcaagc ccagcttcag
      601 gtcacaaatc ttctggaata ccttattgat gtagaaattg cccgcagcga ttgcagaaag
      661 cctttaagca ctaatgaaat ctgcgccatt caagaaaact ccaagctgaa aaggaaatta
      721 agctgcagct ttttggtagg agcacttccc tggaatggtg aattcactgt gatggagaaa
      781 aagtgtgaag atgcttaatg gtgttttgag gcatccctcc aacctctgtg actactttat
      841 ccatgaaaat gaagcaatgg caggtgggag gctcttccca atgtgctttc ttca
//
