LOCUS       NM_001909               2055 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens cathepsin D (CTSD), mRNA.
ACCESSION   NM_001909
VERSION     NM_001909.5
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 2055)
  AUTHORS   Ruiz-Blazquez,P., Fernandez-Fernandez,M., Pistorio,V.,
            Martinez-Sanchez,C., Costanzo,M., Iruzubieta,P., Zhuravleva,E.,
            Cacho-Pujol,J., Arino,S., Del Castillo-Cruz,A., Nunez,S.,
            Andersen,J.B., Ruoppolo,M., Crespo,J., Garcia-Ruiz,C., Pavone,L.M.,
            Reinheckel,T., Sancho-Bru,P., Coll,M., Fernandez-Checa,J.C. and
            Moles,A.
  TITLE     Cathepsin D is essential for the degradomic shift of macrophages
            required to resolve liver fibrosis
  JOURNAL   Mol Metab 87, 101989 (2024)
   PUBMED   39019115
  REMARK    GeneRIF: Cathepsin D is essential for the degradomic shift of
            macrophages required to resolve liver fibrosis.
REFERENCE   2  (bases 1 to 2055)
  AUTHORS   Li,L., Zheng,Z.Z., Jiang,J.J., Chen,J.L., Jiang,B., Li,Y.W.,
            Dai,Y.L. and Wang,B.
  TITLE     CTSD upregulation as a key driver of spinal ligament abnormalities
            in spinal stenosis
  JOURNAL   Bone 186, 117174 (2024)
   PUBMED   38917962
  REMARK    GeneRIF: CTSD upregulation as a key driver of spinal ligament
            abnormalities in spinal stenosis.
REFERENCE   3  (bases 1 to 2055)
  AUTHORS   Chiu,C.C., Chen,Y.L., Weng,Y.H., Liu,S.Y., Li,H.L., Yeh,T.H. and
            Wang,H.L.
  TITLE     Downregulation of Protease Cathepsin D and Upregulation of
            Pathologic alpha-Synuclein Mediate Paucity of DNAJC6-Induced
            Degeneration of Dopaminergic Neurons
  JOURNAL   Int J Mol Sci 25 (12), 6711 (2024)
   PUBMED   38928416
  REMARK    GeneRIF: Downregulation of Protease Cathepsin D and Upregulation of
            Pathologic alpha-Synuclein Mediate Paucity of DNAJC6-Induced
            Degeneration of Dopaminergic Neurons.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2055)
  AUTHORS   Ng,E.S.Y., Hu,J., Jiang,Z. and Radu,R.A.
  TITLE     Impaired cathepsin D in retinal pigment epithelium cells mediates
            Stargardt disease pathogenesis
  JOURNAL   FASEB J 38 (11), e23720 (2024)
   PUBMED   38837708
  REMARK    GeneRIF: Impaired cathepsin D in retinal pigment epithelium cells
            mediates Stargardt disease pathogenesis.
REFERENCE   5  (bases 1 to 2055)
  AUTHORS   Mole,S.E. and Williams,R.E.
  TITLE     Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301601
REFERENCE   6  (bases 1 to 2055)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 2055)
  AUTHORS   Gulnik,S., Baldwin,E.T., Tarasova,N. and Erickson,J.
  TITLE     Human liver cathepsin D. Purification, crystallization and
            preliminary X-ray diffraction analysis of a lysosomal enzyme
  JOURNAL   J Mol Biol 227 (1), 265-270 (1992)
   PUBMED   1522590
REFERENCE   8  (bases 1 to 2055)
  AUTHORS   Cataldo,A.M. and Nixon,R.A.
  TITLE     Enzymatically active lysosomal proteases are associated with
            amyloid deposits in Alzheimer brain
  JOURNAL   Proc Natl Acad Sci U S A 87 (10), 3861-3865 (1990)
   PUBMED   1692625
REFERENCE   9  (bases 1 to 2055)
  AUTHORS   Faust,P.L., Kornfeld,S. and Chirgwin,J.M.
  TITLE     Cloning and sequence analysis of cDNA for human cathepsin D
  JOURNAL   Proc Natl Acad Sci U S A 82 (15), 4910-4914 (1985)
   PUBMED   3927292
REFERENCE   10 (bases 1 to 2055)
  AUTHORS   Knight,C.G. and Barrett,A.J.
  TITLE     Interaction of human cathepsin D with the inhibitor pepstatin
  JOURNAL   Biochem J 155 (1), 117-125 (1976)
   PUBMED   938470
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM762986.1 and BC016320.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001909.4.
            
            Summary: This gene encodes a member of the A1 family of peptidases.
            The encoded preproprotein is proteolytically processed to generate
            multiple protein products. These products include the cathepsin D
            light and heavy chains, which heterodimerize to form the mature
            enzyme. This enzyme exhibits pepsin-like activity and plays a role
            in protein turnover and in the proteolytic activation of hormones
            and growth factors. Mutations in this gene play a causal role in
            neuronal ceroid lipofuscinosis-10 and may be involved in the
            pathogenesis of several other diseases, including breast cancer and
            possibly Alzheimer's disease. [provided by RefSeq, Nov 2015].
            
            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 :: SRR3476690.350777.1,
                                           SRR3476690.959075.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000236671.7/ ENSP00000236671.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-57                BM762986.1         66-122
            58-2055             BC016320.2         35-2032
FEATURES             Location/Qualifiers
     source          1..2055
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..2055
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /note="cathepsin D"
                     /db_xref="GeneID:1509"
                     /db_xref="HGNC:HGNC:2529"
                     /db_xref="MIM:116840"
     exon            1..136
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1307
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /EC_number="3.4.23.5"
                     /note="ceroid-lipofuscinosis, neuronal 10; lysosomal
                     aspartyl peptidase; lysosomal aspartyl protease;
                     epididymis secretory sperm binding protein Li 130P"
                     /codon_start=1
                     /product="cathepsin D preproprotein"
                     /protein_id="NP_001900.1"
                     /db_xref="CCDS:CCDS7725.1"
                     /db_xref="GeneID:1509"
                     /db_xref="HGNC:HGNC:2529"
                     /db_xref="MIM:116840"
                     /translation="MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVE
                     DLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYYGEIGIGTPPQCFTVVFDTGSSN
                     LWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPC
                     QSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNL
                     MQQKLVDQNIFSFYLSRDPDAQPGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQ
                     VEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPLIQGEYMIPCEKVST
                     LPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFIGR
                     YYTVFDRDNNRVGFAEAARL"
     exon            137..296
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /inference="alignment:Splign:2.1.0"
     exon            297..420
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /inference="alignment:Splign:2.1.0"
     exon            421..539
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /inference="alignment:Splign:2.1.0"
     exon            540..772
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /inference="alignment:Splign:2.1.0"
     exon            773..895
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /inference="alignment:Splign:2.1.0"
     exon            896..1040
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..1139
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..2055
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2026..2031
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /note="hexamer: AATACA"
     polyA_site      2055
                     /gene="CTSD"
                     /gene_synonym="CLN10; CPSD; HEL-S-130P"
                     /note="major polyA site"
ORIGIN      
        1 aactgcggcg tcatcccggc tataagcgca cggcctcggc gaccctctcc gacccggccg
       61 ccgccgccat gcagccctcc agccttctgc cgctcgccct ctgcctgctg gctgcacccg
      121 cctccgcgct cgtcaggatc ccgctgcaca agttcacgtc catccgccgg accatgtcgg
      181 aggttggggg ctctgtggag gacctgattg ccaaaggccc cgtctcaaag tactcccagg
      241 cggtgccagc cgtgaccgag gggcccattc ccgaggtgct caagaactac atggacgccc
      301 agtactacgg ggagattggc atcgggacgc ccccccagtg cttcacagtc gtcttcgaca
      361 cgggctcctc caacctgtgg gtcccctcca tccactgcaa actgctggac atcgcttgct
      421 ggatccacca caagtacaac agcgacaagt ccagcaccta cgtgaagaat ggtacctcgt
      481 ttgacatcca ctatggctcg ggcagcctct ccgggtacct gagccaggac actgtgtcgg
      541 tgccctgcca gtcagcgtcg tcagcctctg ccctgggcgg tgtcaaagtg gagaggcagg
      601 tctttgggga ggccaccaag cagccaggca tcaccttcat cgcagccaag ttcgatggca
      661 tcctgggcat ggcctacccc cgcatctccg tcaacaacgt gctgcccgtc ttcgacaacc
      721 tgatgcagca gaagctggtg gaccagaaca tcttctcctt ctacctgagc agggacccag
      781 atgcgcagcc tgggggtgag ctgatgctgg gtggcacaga ctccaagtat tacaagggtt
      841 ctctgtccta cctgaatgtc acccgcaagg cctactggca ggtccacctg gaccaggtgg
      901 aggtggccag cgggctgacc ctgtgcaagg agggctgtga ggccattgtg gacacaggca
      961 cttccctcat ggtgggcccg gtggatgagg tgcgcgagct gcagaaggcc atcggggccg
     1021 tgccgctgat tcagggcgag tacatgatcc cctgtgagaa ggtgtccacc ctgcccgcga
     1081 tcacactgaa gctgggaggc aaaggctaca agctgtcccc agaggactac acgctcaagg
     1141 tgtcgcaggc cgggaagacc ctctgcctga gcggcttcat gggcatggac atcccgccac
     1201 ccagcgggcc actctggatc ctgggcgacg tcttcatcgg ccgctactac actgtgtttg
     1261 accgtgacaa caacagggtg ggcttcgccg aggctgcccg cctctagttc ccaaggcgtc
     1321 cgcgcgccag cacagaaaca gaggagagtc ccagagcagg aggcccctgg cccagcggcc
     1381 cctcccacac acacccacac actcgcccgc ccactgtcct gggcgccctg gaagccggcg
     1441 gcccaagccc gacttgctgt tttgttctgt ggttttcccc tccctgggtt cagaaatgct
     1501 gcctgcctgt ctgtctctcc atctgtttgg tgggggtaga gctgatccag agcacagatc
     1561 tgtttcgtgc attggaagac cccacccaag cttggcagcc gagctcgtgt atcctggggc
     1621 tcccttcatc tccagggagt cccctccccg gccctaccag cgcccgctgg gctgagcccc
     1681 taccccacac caggccgtcc tcccgggccc tcccttggaa acctgccctg cctgagggcc
     1741 cctctgccca gcttgggccc agctgggctc tgccacccta cctgttcagt gtcccgggcc
     1801 cgttgaggat gaggccgcta gaggcctgag gatgagctgg aaggagtgag aggggacaaa
     1861 acccaccttg ttggagcctg cagggtggtg ctgggactga gccagtccca ggggcatgta
     1921 ttggcctgga ggtggggttg ggattggggg ctggtgccag ccttcctctg cagctgacct
     1981 ctgttgtcct ccccttgggc ggctgagagc cccagctgac atggaaatac agttgttggc
     2041 ctccggcctc ccctc
//
