LOCUS       NM_138283                736 bp    mRNA    linear   PRI 17-APR-2022
DEFINITION  Homo sapiens cystatin like 1 (CSTL1), transcript variant 1, mRNA.
ACCESSION   NM_138283
VERSION     NM_138283.1
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 736)
  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
REFERENCE   2  (bases 1 to 736)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths
            MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S,
            Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K,
            Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A,
            Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM,
            Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray
            AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver
            K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ,
            Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE,
            Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C,
            Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L,
            Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis
            JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA,
            Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and
            Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   3  (bases 1 to 736)
  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   4  (bases 1 to 736)
  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   5  (bases 1 to 736)
  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   6  (bases 1 to 736)
  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   7  (bases 1 to 736)
  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 AY707749.1.
            
            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 at the telomeric end of the
            cystatin locus and encodes a type 2 cystatin-like protein. The
            specific function of this protein has not been determined.
            [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY707749.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000347397.5/ ENSP00000344907.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..736
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..736
                     /gene="CSTL1"
                     /gene_synonym="CTES1; dJ322G13.4; RCET11"
                     /note="cystatin like 1"
                     /db_xref="GeneID:128817"
                     /db_xref="HGNC:HGNC:15958"
     exon            1..122
                     /gene="CSTL1"
                     /gene_synonym="CTES1; dJ322G13.4; RCET11"
                     /inference="alignment:Splign:2.1.0"
     exon            123..465
                     /gene="CSTL1"
                     /gene_synonym="CTES1; dJ322G13.4; RCET11"
                     /inference="alignment:Splign:2.1.0"
     CDS             247..684
                     /gene="CSTL1"
                     /gene_synonym="CTES1; dJ322G13.4; RCET11"
                     /codon_start=1
                     /product="cystatin-like 1 precursor"
                     /protein_id="NP_612140.1"
                     /db_xref="CCDS:CCDS13153.1"
                     /db_xref="GeneID:128817"
                     /db_xref="HGNC:HGNC:15958"
                     /translation="MGIGCWRNPLLLLIALVLSAKLGHFQRWEGFQQKLMSKKNMNST
                     LNFFIQSYNNASNDTYLYRVQRLIRSQMQLTTGVEYIVTVKIGWTKCKRNDTSNSSCP
                     LQSKKLRKSLICESLIYTMPWINYFQLWNNSCLEAEHVGRNLR"
     exon            466..576
                     /gene="CSTL1"
                     /gene_synonym="CTES1; dJ322G13.4; RCET11"
                     /inference="alignment:Splign:2.1.0"
     exon            577..736
                     /gene="CSTL1"
                     /gene_synonym="CTES1; dJ322G13.4; RCET11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      718..723
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSTL1"
                     /gene_synonym="CTES1; dJ322G13.4; RCET11"
                     /note="hexamer: ATTAAA"
     polyA_site      736
                     /gene="CSTL1"
                     /gene_synonym="CTES1; dJ322G13.4; RCET11"
                     /note="major polyA site"
ORIGIN      
        1 agggggatcc tgcaagcaga aatctgtggt gggcgggcgg caggtgagca aggagaacgt
       61 gtctgtaaag gaagcacagg gaacaggtgg tggctttgta agacagttgg aacccaagga
      121 aggcaggcca tcccccagga aagcctatgt tggtgagggt tatgatggga gaatgagtga
      181 actgcagcct ggcaccacca caccctggaa ggtgcagttg ggaagaaagt ttctgaggct
      241 gtagacatgg ggatcggatg ctggagaaac cccctgctgc tgctgattgc cctggtcctg
      301 tcagccaagc tgggtcactt ccaaaggtgg gagggcttcc agcagaagct catgagcaag
      361 aagaacatga attcaacact caacttcttc attcaatcct acaacaatgc cagcaacgac
      421 acctacttat atcgagtcca gaggctaatt cgaagtcaga tgcagctgac gacgggagtg
      481 gagtatatag tcactgtgaa gattggctgg accaaatgca agaggaatga cacgagcaat
      541 tcttcctgcc ccctgcaaag caagaagctg agaaagagtt taatttgcga gtctttgata
      601 tacaccatgc cctggataaa ctatttccag ctctggaaca attcctgtct ggaggccgag
      661 catgtgggca gaaacctcag atgagggctc atatgattga gttgtgcact ggctgttatt
      721 aaactgtaaa ggatca
//
