LOCUS       NM_000308               1858 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.
ACCESSION   NM_000308
VERSION     NM_000308.4
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 1858)
  AUTHORS   Fu,W., Song,Y., Zhao,R., Zhao,J., Yue,Y. and Zhang,R.
  TITLE     Proteomics analysis of serum and urine identifies VCP and CTSA as
            potential biomarkers associated with multiple myeloma
  JOURNAL   Clin Chim Acta 552, 117701 (2024)
   PUBMED   38081446
  REMARK    GeneRIF: Proteomics analysis of serum and urine identifies VCP and
            CTSA as potential biomarkers associated with multiple myeloma.
REFERENCE   2  (bases 1 to 1858)
  AUTHORS   Sun,W., Wang,J., Wang,Z., Xu,M., Lin,Q., Sun,P. and Yuan,Y.
  TITLE     Combining WGCNA and machine learning to construct basement
            membrane-related gene index helps to predict the prognosis and
            tumor microenvironment of HCC patients and verifies the
            carcinogenesis of key gene CTSA
  JOURNAL   Front Immunol 14, 1185916 (2023)
   PUBMED   37287981
  REMARK    GeneRIF: Combining WGCNA and machine learning to construct basement
            membrane-related gene index helps to predict the prognosis and
            tumor microenvironment of HCC patients and verifies the
            carcinogenesis of key gene CTSA.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1858)
  AUTHORS   Zhao,X., Chai,W., Wang,T., Chen,X., Zhang,L., Li,F. and Liu,R.
  TITLE     Identification of the prognostic, diagnostic, and biological
            significance of the miR-148a-3p/cathepsin A axis in hepatocellular
            carcinoma
  JOURNAL   J Biochem Mol Toxicol 36 (12), e23208 (2022)
   PUBMED   36065643
  REMARK    GeneRIF: Identification of the prognostic, diagnostic, and
            biological significance of the miR-148a-3p/cathepsin A axis in
            hepatocellular carcinoma.
REFERENCE   4  (bases 1 to 1858)
  AUTHORS   Sung,Y.S., Putman,J., Du,S. and Armstrong,D.W.
  TITLE     Enhanced carboxypeptidase efficacies and differentiation of peptide
            epimers
  JOURNAL   Anal Biochem 642, 114451 (2022)
   PUBMED   34774536
  REMARK    GeneRIF: Enhanced carboxypeptidase efficacies and differentiation
            of peptide epimers.
REFERENCE   5  (bases 1 to 1858)
  AUTHORS   Bonten,E.J., Annunziata,I. and d'Azzo,A.
  TITLE     Lysosomal multienzyme complex: pros and cons of working together
  JOURNAL   Cell Mol Life Sci 71 (11), 2017-2032 (2014)
   PUBMED   24337808
  REMARK    Review article
REFERENCE   6  (bases 1 to 1858)
  AUTHORS   Morreau,H., Galjart,N.J., Willemsen,R., Gillemans,N., Zhou,X.Y. and
            d'Azzo,A.
  TITLE     Human lysosomal protective protein. Glycosylation, intracellular
            transport, and association with beta-galactosidase in the
            endoplasmic reticulum
  JOURNAL   J Biol Chem 267 (25), 17949-17956 (1992)
   PUBMED   1387645
REFERENCE   7  (bases 1 to 1858)
  AUTHORS   Halal,F., Chitayat,D., Parikh,H., Rosenblatt,B.,
            Tranchemontagne,J., Vekemans,M. and Potier,M.
  TITLE     Ring chromosome 20 and possible assignment of the structural gene
            encoding human carboxypeptidase-L to the distal segment of the long
            arm of chromosome 20
  JOURNAL   Am J Med Genet 43 (3), 576-579 (1992)
   PUBMED   1605251
REFERENCE   8  (bases 1 to 1858)
  AUTHORS   Zhou,X.Y., Galjart,N.J., Willemsen,R., Gillemans,N., Galjaard,H.
            and d'Azzo,A.
  TITLE     A mutation in a mild form of galactosialidosis impairs dimerization
            of the protective protein and renders it unstable
  JOURNAL   EMBO J 10 (13), 4041-4048 (1991)
   PUBMED   1756715
REFERENCE   9  (bases 1 to 1858)
  AUTHORS   Galjart,N.J., Morreau,H., Willemsen,R., Gillemans,N., Bonten,E.J.
            and d'Azzo,A.
  TITLE     Human lysosomal protective protein has cathepsin A-like activity
            distinct from its protective function
  JOURNAL   J Biol Chem 266 (22), 14754-14762 (1991)
   PUBMED   1907282
REFERENCE   10 (bases 1 to 1858)
  AUTHORS   Jackman,H.L., Tan,F.L., Tamei,H., Beurling-Harbury,C., Li,X.Y.,
            Skidgel,R.A. and Erdos,E.G.
  TITLE     A peptidase in human platelets that deamidates tachykinins.
            Probable identity with the lysosomal 'protective protein'
  JOURNAL   J Biol Chem 265 (19), 11265-11272 (1990)
   PUBMED   1694176
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC093009.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 18, 2019 this sequence version replaced NM_000308.3.
            
            Summary: This gene encodes a member of the peptidase S10 family of
            serine carboxypeptidases. Alternative splicing results in multiple
            transcript variants, at least one of which encodes a preproprotein
            that is proteolytically processed to generate two chains that
            comprise the heterodimeric active enzyme. This enzyme possesses
            deamidase, esterase and carboxypeptidase activities and acts as a
            scaffold in the lysosomal multienzyme complex. Mutations in this
            gene are associated with galactosialidosis. [provided by RefSeq,
            Nov 2015].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). This isoform (a) may undergo proteolytic processing similar to
            isoform (b).
            
            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 :: BC093009.1, AK312898.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000646241.3/ ENSP00000493613.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1858              BC093009.1         1-1858
FEATURES             Location/Qualifiers
     source          1..1858
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..1858
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /note="cathepsin A"
                     /db_xref="GeneID:5476"
                     /db_xref="HGNC:HGNC:9251"
                     /db_xref="MIM:613111"
     exon            1..45
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     CDS             46..1488
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /EC_number="3.4.16.5"
                     /note="isoform b preproprotein is encoded by transcript
                     variant 1; beta-galactosidase 2; lysosomal protective
                     protein; deamidase; beta-galactosidase protective protein;
                     carboxypeptidase C; protective protein cathepsin A;
                     urinary kininase; carboxypeptidase-L; lysosomal
                     carboxypeptidase A; carboxypeptidase Y-like kininase"
                     /codon_start=1
                     /product="lysosomal protective protein isoform b
                     preproprotein"
                     /protein_id="NP_000299.3"
                     /db_xref="CCDS:CCDS46609.1"
                     /db_xref="GeneID:5476"
                     /db_xref="HGNC:HGNC:9251"
                     /db_xref="MIM:613111"
                     /translation="MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQ
                     PSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFL
                     VQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDF
                     FRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSL
                     VYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYN
                     LYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNT
                     TAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQI
                     LLYNGDVDMACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFL
                     TIKGAGHMVPTDKPLAAFTMFSRFLNKQPY"
     exon            46..239
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            240..351
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            352..402
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            403..489
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            490..645
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            646..737
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            738..822
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            823..914
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            915..993
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            994..1133
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1209
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1299
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1404
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1858
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1836..1841
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /note="hexamer: ATTAAA"
     polyA_site      1858
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /note="major polyA site"
ORIGIN      
        1 agtccccggg cgcctcctgg agagcaagga cgcgggggag cagagatgat ccgagccgcg
       61 ccgccgccgc tgttcctgct gctgctgctg ctgctgctgc tagtgtcctg ggcgtcccga
      121 ggcgaggcag cccccgacca ggacgagatc cagcgcctcc ccgggctggc caagcagccg
      181 tctttccgcc agtactccgg ctacctcaaa ggctccggct ccaagcacct ccactactgg
      241 tttgtggagt cccagaagga tcccgagaac agccctgtgg tgctttggct caatgggggt
      301 cccggctgca gctcactaga tgggctcctc acagagcatg gccccttcct ggtccagcca
      361 gatggtgtca ccctggagta caacccctat tcttggaatc tgattgccaa tgtgttatac
      421 ctggagtccc cagctggggt gggcttctcc tactccgatg acaagtttta tgcaactaat
      481 gacactgagg tcgcccagag caattttgag gcccttcaag atttcttccg cctctttccg
      541 gagtacaaga acaacaaact tttcctgacc ggggagagct atgctggcat ctacatcccc
      601 accctggccg tgctggtcat gcaggatccc agcatgaacc ttcaggggct ggctgtgggc
      661 aatggactct cctcctatga gcagaatgac aactccctgg tctactttgc ctactaccat
      721 ggccttctgg ggaacaggct ttggtcttct ctccagaccc actgctgctc tcaaaacaag
      781 tgtaacttct atgacaacaa agacctggaa tgcgtgacca atcttcagga agtggcccgc
      841 atcgtgggca actctggcct caacatctac aatctctatg ccccgtgtgc tggaggggtg
      901 cccagccatt ttaggtatga gaaggacact gttgtggtcc aggatttggg caacatcttc
      961 actcgcctgc cactcaagcg gatgtggcat caggcactgc tgcgctcagg ggataaagtg
     1021 cgcatggacc ccccctgcac caacacaaca gctgcttcca cctacctcaa caacccgtac
     1081 gtgcggaagg ccctcaacat cccggagcag ctgccacaat gggacatgtg caactttctg
     1141 gtaaacttac agtaccgccg tctctaccga agcatgaact cccagtatct gaagctgctt
     1201 agctcacaga aataccagat cctattatat aatggagatg tagacatggc ctgcaatttc
     1261 atgggggatg agtggtttgt ggattccctc aaccagaaga tggaggtgca gcgccggccc
     1321 tggttagtga agtacgggga cagcggggag cagattgccg gcttcgtgaa ggagttctcc
     1381 cacatcgcct ttctcacgat caagggcgcc ggccacatgg ttcccaccga caagcccctc
     1441 gctgccttca ccatgttctc ccgcttcctg aacaagcagc catactgatg accacagcaa
     1501 ccagctccac ggcctgatgc agcccctccc agcctctccc gctaggagag tcctcttcta
     1561 agcaaagtgc ccctgcaggc cgggttctgc cgccaggact gcccccttcc cagagccctg
     1621 tacatcccag actgggccca gggtctccca tagacagcct gggggcaagt tagcacttta
     1681 ttcccgcagc agttcctgaa tggggtggcc tggccccttc tctgcttaaa gaatgccctt
     1741 tatgatgcac tgattccatc ccaggaaccc aacagagctc aggacagccc acagggaggt
     1801 ggtggacgga ctgtaattga tagattgatt atggaattaa attgggtaca gcttcaaa
//
