LOCUS       NM_080610                694 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens cystatin 9 like (CST9L), mRNA.
ACCESSION   NM_080610
VERSION     NM_080610.3
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 694)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 694)
  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   3  (bases 1 to 694)
  AUTHORS   Hwang,S.J., Yang,Q., Meigs,J.B., Pearce,E.N. and Fox,C.S.
  TITLE     A genome-wide association for kidney function and endocrine-related
            traits in the NHLBI's Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S10 (2007)
   PUBMED   17903292
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 694)
  AUTHORS   Cornwall,G.A. and Hsia,N.
  TITLE     A new subgroup of the family 2 cystatins
  JOURNAL   Mol Cell Endocrinol 200 (1-2), 1-8 (2003)
   PUBMED   12644294
  REMARK    Review article
REFERENCE   5  (bases 1 to 694)
  AUTHORS   Eriksson,A., Tohonen,V., Wedell,A. and Nordqvist,K.
  TITLE     Isolation of the human testatin gene and analysis in patients with
            abnormal gonadal development
  JOURNAL   Mol Hum Reprod 8 (1), 8-15 (2002)
   PUBMED   11756564
  REMARK    GeneRIF: Results describe the sequence, genomic structure,
            chromosomal location, and expression pattern of the human testatin
            gene.
REFERENCE   6  (bases 1 to 694)
  AUTHORS   Brown,W.M. and Dziegielewska,K.M.
  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   7  (bases 1 to 694)
  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   8  (bases 1 to 694)
  AUTHORS   Thiesse,M., Millar,S.J. and Dickinson,D.P.
  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   9  (bases 1 to 694)
  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   10 (bases 1 to 694)
  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 BC029656.1.
            
            On Nov 23, 2018 this sequence version replaced NM_080610.2.
            
            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 mouse cystatin 9. Based on its
            testis-specific expression, it is likely to have a role in tissue
            reorganization during early testis development. [provided by
            RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC029656.1, AY358615.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158188, SAMEA2161674
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376979.4/ ENSP00000366178.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-694               BC029656.1         266-959
FEATURES             Location/Qualifiers
     source          1..694
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..694
                     /gene="CST9L"
                     /gene_synonym="bA218C14.1; CTES7B"
                     /note="cystatin 9 like"
                     /db_xref="GeneID:128821"
                     /db_xref="HGNC:HGNC:16233"
                     /db_xref="MIM:616536"
     exon            1..274
                     /gene="CST9L"
                     /gene_synonym="bA218C14.1; CTES7B"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..478
                     /gene="CST9L"
                     /gene_synonym="bA218C14.1; CTES7B"
                     /note="testatin; testicular tissue protein Li 45"
                     /codon_start=1
                     /product="cystatin-9-like precursor"
                     /protein_id="NP_542177.1"
                     /db_xref="CCDS:CCDS13157.1"
                     /db_xref="GeneID:128821"
                     /db_xref="HGNC:HGNC:16233"
                     /db_xref="MIM:616536"
                     /translation="MLGLPWKGGLSWALLLLLLGSQILLIYAWHFHEQRDCDEHNVMA
                     RYLPATVEFAVHTFNQQSKDYYAYRLGHILNSWKEQVESKTVFSMELLLGRTRCGKFE
                     DDIDNCHFQESTELNNTFTCFFTISTRPWMTQFSLLNKTCLEGFH"
     exon            275..388
                     /gene="CST9L"
                     /gene_synonym="bA218C14.1; CTES7B"
                     /inference="alignment:Splign:2.1.0"
     exon            389..694
                     /gene="CST9L"
                     /gene_synonym="bA218C14.1; CTES7B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      671..676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CST9L"
                     /gene_synonym="bA218C14.1; CTES7B"
                     /note="hexamer: ATTAAA"
     polyA_site      694
                     /gene="CST9L"
                     /gene_synonym="bA218C14.1; CTES7B"
                     /note="major polyA site"
ORIGIN      
        1 aagagcaaag tcagcggtgc ctacagtcag caccatgctg ggcctgccgt ggaagggagg
       61 tctgtcctgg gcgctgctgc tgcttctctt aggctcccag atcctgctga tctatgcctg
      121 gcatttccac gagcaaaggg actgtgatga acacaatgtc atggctcgtt acctccctgc
      181 cacagtggag tttgctgtcc acacattcaa ccaacagagc aaggactact atgcctacag
      241 actggggcac atcttgaatt cctggaagga gcaggtggag tccaagactg tattctcaat
      301 ggagctactg ctggggagaa ctaggtgtgg gaaatttgaa gacgacattg acaactgcca
      361 tttccaagaa agcacagagc tgaacaatac tttcacctgc ttcttcacca tcagcaccag
      421 gccctggatg actcagttca gcctcctgaa caagacctgc ttggagggat tccactgagt
      481 gaaacccact cacaggcttg tccatgtgct gctcccacat tccgtggaca tcagcactac
      541 tctcctgagg actcttcagt ggctgagcag ctttggactt gtttgttatc ctattttgca
      601 tgtgtttgag atctcagatc agtgttttag aaaatccaca catcttgagc ctaatcatgt
      661 agtgtagatc attaaacatc agcattttaa gaaa
//
