LOCUS       NM_004390               2145 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens cathepsin H (CTSH), transcript variant 1, mRNA.
ACCESSION   NM_004390
VERSION     NM_004390.5
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 2145)
  AUTHORS   Li,Y., Xu,M., Xiang,B.L., Li,X., Zhang,D.F., Zhao,H., Bi,R. and
            Yao,Y.G.
  TITLE     Functional genomics identify causal variant underlying the
            protective CTSH locus for Alzheimer's disease
  JOURNAL   Neuropsychopharmacology 48 (11), 1555-1566 (2023)
   PUBMED   36739351
  REMARK    GeneRIF: Functional genomics identify causal variant underlying the
            protective CTSH locus for Alzheimer's disease.
REFERENCE   2  (bases 1 to 2145)
  AUTHORS   Wang,Y., Zhao,J., Gu,Y., Wang,H., Jiang,M., Zhao,S., Qing,H. and
            Ni,J.
  TITLE     Cathepsin H: Molecular characteristics and clues to function and
            mechanism
  JOURNAL   Biochem Pharmacol 212, 115585 (2023)
   PUBMED   37148981
  REMARK    GeneRIF: Cathepsin H: Molecular characteristics and clues to
            function and mechanism.
            Review article
REFERENCE   3  (bases 1 to 2145)
  AUTHORS   Ye,J., Stefan-Lifshitz,M. and Tomer,Y.
  TITLE     Genetic and environmental factors regulate the type 1 diabetes gene
            CTSH via differential DNA methylation
  JOURNAL   J Biol Chem 296, 100774 (2021)
   PUBMED   33992646
  REMARK    GeneRIF: Genetic and environmental factors regulate the type 1
            diabetes gene CTSH via differential DNA methylation.
REFERENCE   4  (bases 1 to 2145)
  AUTHORS   Floyel,T., Mirza,A.H., Kaur,S., Frorup,C., Yarani,R., Storling,J.
            and Pociot,F.
  TITLE     The Rac2 GTPase contributes to cathepsin H-mediated protection
            against cytokine-induced apoptosis in insulin-secreting cells
  JOURNAL   Mol Cell Endocrinol 518, 110993 (2020)
   PUBMED   32814070
  REMARK    GeneRIF: The Rac2 GTPase contributes to cathepsin H-mediated
            protection against cytokine-induced apoptosis in insulin-secreting
            cells.
REFERENCE   5  (bases 1 to 2145)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 2145)
  AUTHORS   Cataldo,A.M., Paskevich,P.A., Kominami,E. and Nixon,R.A.
  TITLE     Lysosomal hydrolases of different classes are abnormally
            distributed in brains of patients with Alzheimer disease
  JOURNAL   Proc Natl Acad Sci U S A 88 (24), 10998-11002 (1991)
   PUBMED   1837142
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1992 Mar 15;89(6):2509]
REFERENCE   7  (bases 1 to 2145)
  AUTHORS   Fuchs,R. and Gassen,H.G.
  TITLE     Nucleotide sequence of human preprocathepsin H, a lysosomal
            cysteine proteinase
  JOURNAL   Nucleic Acids Res 17 (22), 9471 (1989)
   PUBMED   2587265
REFERENCE   8  (bases 1 to 2145)
  AUTHORS   Sawicki,G. and Warwas,M.
  TITLE     Cathepsin H from human placenta
  JOURNAL   Acta Biochim Pol 36 (3-4), 343-351 (1989)
   PUBMED   2486008
REFERENCE   9  (bases 1 to 2145)
  AUTHORS   Fuchs,R., Machleidt,W. and Gassen,H.G.
  TITLE     Molecular cloning and sequencing of a cDNA coding for mature human
            kidney cathepsin H
  JOURNAL   Biol Chem Hoppe Seyler 369 (6), 469-475 (1988)
   PUBMED   2849458
REFERENCE   10 (bases 1 to 2145)
  AUTHORS   Ritonja,A., Popovic,T., Kotnik,M., Machleidt,W. and Turk,V.
  TITLE     Amino acid sequences of the human kidney cathepsins H and L
  JOURNAL   FEBS Lett 228 (2), 341-345 (1988)
   PUBMED   3342889
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011944.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_004390.4.
            
            Summary: The protein encoded by this gene is a lysosomal cysteine
            proteinase important in the overall degradation of lysosomal
            proteins. It is composed of a dimer of disulfide-linked heavy and
            light chains, both produced from a single protein precursor. The
            encoded protein, which belongs to the peptidase C1 protein family,
            can act both as an aminopeptidase and as an endopeptidase.
            Increased expression of this gene has been correlated with
            malignant progression of prostate tumors. Alternate splicing of
            this gene results in multiple transcript variants encoding
            different isoforms. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the longer isoform (a).
            
            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 :: AK314698.1, SRR14038193.1939926.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147920, SAMEA2159080
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000220166.10/ ENSP00000220166.6
            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
            1-156               AC011944.12        81308-81463
            157-188             AC011944.12        87183-87214
            189-294             AC011944.12        88931-89036
            295-365             AC011944.12        90604-90674
            366-470             AC011944.12        91272-91376
            471-557             AC011944.12        93896-93982
            558-613             AC011944.12        94848-94903
            614-695             AC011944.12        96861-96942
            696-764             AC011944.12        98573-98641
            765-871             AC011944.12        100914-101020
            872-997             AC011944.12        103236-103361
            998-2145            AC011944.12        104149-105296
FEATURES             Location/Qualifiers
     source          1..2145
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     gene            1..2145
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /note="cathepsin H"
                     /db_xref="GeneID:1512"
                     /db_xref="HGNC:HGNC:2535"
                     /db_xref="MIM:116820"
     exon            1..156
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..1073
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /EC_number="3.4.22.16"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 1; aleurain; cathepsin B3; cathepsin BA;
                     N-benzoylarginine-beta-naphthylamide hydrolase;
                     pro-cathepsin H"
                     /codon_start=1
                     /product="pro-cathepsin H isoform a preproprotein"
                     /protein_id="NP_004381.2"
                     /db_xref="CCDS:CCDS10308.1"
                     /db_xref="GeneID:1512"
                     /db_xref="HGNC:HGNC:2535"
                     /db_xref="MIM:116820"
                     /translation="MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRK
                     TYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNC
                     SATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGK
                     MLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQP
                     GKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTP
                     DKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLIERGKNMCGLAACASYPIPL
                     V"
     exon            157..188
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /inference="alignment:Splign:2.1.0"
     exon            189..294
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /inference="alignment:Splign:2.1.0"
     exon            295..365
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /inference="alignment:Splign:2.1.0"
     exon            366..470
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /inference="alignment:Splign:2.1.0"
     exon            471..557
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /inference="alignment:Splign:2.1.0"
     exon            558..613
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /inference="alignment:Splign:2.1.0"
     exon            614..695
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /inference="alignment:Splign:2.1.0"
     exon            696..764
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /inference="alignment:Splign:2.1.0"
     exon            765..871
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /inference="alignment:Splign:2.1.0"
     exon            872..997
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /inference="alignment:Splign:2.1.0"
     exon            998..2145
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1406..1411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /note="hexamer: AATAAA"
     polyA_site      1432
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
                     /note="major polyA site"
     polyA_site      1466
                     /gene="CTSH"
                     /gene_synonym="ACC-4; ACC-5; ACC4; ACC5; CPSB"
ORIGIN      
        1 agttgacgct ctgggccgcc acctccgcgg accctgagcg caagagccaa gccgccagcg
       61 ctgcgatgtg ggccacgctg ccgctgctct gcgccggggc ctggctcctg ggagtccccg
      121 tctgcggtgc cgccgaactg tgcgtgaact ccttagagaa gtttcacttc aagtcatgga
      181 tgtctaagca ccgtaagacc tacagtacgg aggagtacca ccacaggctg cagacgtttg
      241 ccagcaactg gaggaagata aacgcccaca acaatgggaa ccacacattt aaaatggcac
      301 tgaaccaatt ttcagacatg agctttgctg aaataaaaca caagtatctc tggtcagagc
      361 ctcagaattg ctcagccacc aaaagtaact accttcgagg tactggtccc tacccacctt
      421 ccgtggactg gcggaaaaaa ggaaattttg tctcacctgt gaaaaatcag ggtgcctgcg
      481 gcagttgctg gactttctcc accactgggg ccctggagtc tgcgatcgcc atcgcaaccg
      541 gaaagatgct gtccttggcg gaacagcagc tggtggactg cgcccaggac ttcaataatc
      601 acggctgcca agggggtctc cccagccagg ctttcgagta tatcctgtac aacaagggga
      661 tcatgggtga agacacctac ccctaccagg gcaaggatgg ttattgcaag ttccaacctg
      721 gaaaggccat cggctttgtc aaggatgtag ccaacatcac aatctatgac gaggaagcga
      781 tggtggaggc tgtggccctc tacaaccctg tgagctttgc ctttgaggtg actcaggact
      841 tcatgatgta tagaaccggc atctactcca gtacttcctg ccataaaact ccagataaag
      901 taaaccatgc agtactggct gttgggtatg gagaaaaaaa tgggatccct tactggatcg
      961 tgaaaaactc ttggggtccc cagtggggaa tgaacgggta cttcctcatc gagcgcggaa
     1021 agaacatgtg tggcctggct gcctgcgcct cctaccccat ccctctggtg tgagccgtgg
     1081 cagccgcagc gcagactggc ggagaaggag aggaacgggc agcctgggcc tgggtggaaa
     1141 tcctgccctg gaggaagttg tggggagatc cactgggacc cccaacattc tgccctcacc
     1201 tctgtgccca gcctggaaac ctacagacaa ggaggagttc caccatgagc tcacccgtgt
     1261 ctatgacgca aagatcacca gccatgtgcc ttagtgtcct tcttaacaga ctcaaaccac
     1321 atggaccacg aatattcttt ctgtccagaa gggctacttt ccacatatag agctccaggg
     1381 actgtctttt ctgtattcgc tgttcaataa acattgagtg agcacctccc cagatggagc
     1441 atgctggtcc tgggccatga ctcaaaccag gtctgtcctc gccactcagt ctcccaggag
     1501 ggaggcatca gggggtgtcc aggctctggc tgggaggatg gtgggggtgc tggcggtatt
     1561 atccaccaga tggggtatcc aggatgaaga gcaggcttaa tttgagatct tgactatttg
     1621 tcccaaacct gagtggagag gtggggagga aggagaaaaa cgggccaagc tgcggcagag
     1681 gcaggattca aacccacaat gtcagcccag aagcctgtac ttctctgtgt ggcctcccca
     1741 gtctcagctg cctactccta ctcagactct gccccccacc tccacatgag actgcccacc
     1801 ccttcctcac caacccctta tttatttcaa acgtgcccag atgctcctgt cgtttccaca
     1861 ccatcccttc ccttatcttg ccttttgaga aatcttgatc tctgtttaga gggcggccat
     1921 gaagttgctg ctgcttcctg aagcctccgg gctctgggat gtctgtagaa caagctggag
     1981 tccaccagct ctttgtccta tggctcacag actttcttaa tgataaaagc tgtcatctta
     2041 tttgggcttc ctgaaaagct aaaggcttga gaatatttga aaaatatata tgttcatgat
     2101 aaggcttatt tagataatgc aaatatagtt taatttatta gaaaa
//
