LOCUS       NM_001384728            3816 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens cathepsin B (CTSB), transcript variant 13, mRNA.
ACCESSION   NM_001384728 XM_017013100
VERSION     NM_001384728.1
KEYWORDS    RefSeq.
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 3816)
  AUTHORS   Abdelaziz,R.F., Hussein,A.M., Kotob,M.H., Weiss,C., Chelminski,K.,
            Studenik,C.R. and Aufy,M.
  TITLE     The Significance of Cathepsin B in Mediating Radiation Resistance
            in Colon Carcinoma Cell Line (Caco-2)
  JOURNAL   Int J Mol Sci 24 (22), 16146 (2023)
   PUBMED   38003335
  REMARK    GeneRIF: The Significance of Cathepsin B in Mediating Radiation
            Resistance in Colon Carcinoma Cell Line (Caco-2).
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3816)
  AUTHORS   Gokce,E. and Gun,N.
  TITLE     The Relationship Between Exercise, Cathepsin B, and Cognitive
            Functions: Systematic Review
  JOURNAL   Percept Mot Skills 130 (4), 1366-1385 (2023)
   PUBMED   37202717
  REMARK    GeneRIF: The Relationship Between Exercise, Cathepsin B, and
            Cognitive Functions: Systematic Review.
REFERENCE   3  (bases 1 to 3816)
  AUTHORS   Zhou,Y., Gao,S., Ding,L., Yan,H., Pang,S. and Yan,B.
  TITLE     Correlation Analysis of CTSB Promoter Polymorphism and Function in
            Patients with Dilated Cardiomyopathy
  JOURNAL   DNA Cell Biol 42 (4), 203-211 (2023)
   PUBMED   36976816
  REMARK    GeneRIF: Correlation Analysis of CTSB Promoter Polymorphism and
            Function in Patients with Dilated Cardiomyopathy.
REFERENCE   4  (bases 1 to 3816)
  AUTHORS   Shang,X.K., Zhang,S.M. and Ni,J.J.
  TITLE     Research progress of cathepsin B in brain aging and Alzheimer's
            diseases
  JOURNAL   Yi Chuan 45 (3), 212-220 (2023)
   PUBMED   36927647
  REMARK    GeneRIF: Research progress of cathepsin B in brain aging and
            Alzheimer's diseases.
            Review article
REFERENCE   5  (bases 1 to 3816)
  AUTHORS   Aggarwal,N. and Sloane,B.F.
  TITLE     Cathepsin B: multiple roles in cancer
  JOURNAL   Proteomics Clin Appl 8 (5-6), 427-437 (2014)
   PUBMED   24677670
  REMARK    Review article
REFERENCE   6  (bases 1 to 3816)
  AUTHORS   Fosang,A.J., Neame,P.J., Last,K., Hardingham,T.E., Murphy,G. and
            Hamilton,J.A.
  TITLE     The interglobular domain of cartilage aggrecan is cleaved by PUMP,
            gelatinases, and cathepsin B
  JOURNAL   J Biol Chem 267 (27), 19470-19474 (1992)
   PUBMED   1326552
REFERENCE   7  (bases 1 to 3816)
  AUTHORS   Moin,K., Day,N.A., Sameni,M., Hasnain,S., Hirama,T. and Sloane,B.F.
  TITLE     Human tumour cathepsin B. Comparison with normal liver cathepsin B
  JOURNAL   Biochem J 285 (Pt 2) (Pt 2), 427-434 (1992)
   PUBMED   1637335
REFERENCE   8  (bases 1 to 3816)
  AUTHORS   Fong,D., Chan,M.M., Hsieh,W.T., Menninger,J.C. and Ward,D.C.
  TITLE     Confirmation of the human cathepsin B gene (CTSB) assignment to
            chromosome 8
  JOURNAL   Hum Genet 89 (1), 10-12 (1992)
   PUBMED   1577456
REFERENCE   9  (bases 1 to 3816)
  AUTHORS   Chan,S.J., San Segundo,B., McCormick,M.B. and Steiner,D.F.
  TITLE     Nucleotide and predicted amino acid sequences of cloned human and
            mouse preprocathepsin B cDNAs
  JOURNAL   Proc Natl Acad Sci U S A 83 (20), 7721-7725 (1986)
   PUBMED   3463996
REFERENCE   10 (bases 1 to 3816)
  AUTHORS   Bayliss,M.T. and Ali,S.Y.
  TITLE     Studies on cathepsin B in human articular cartilage
  JOURNAL   Biochem J 171 (1), 149-154 (1978)
   PUBMED   417724
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025857.5 and AC069185.7.
            
            On Jun 26, 2020 this sequence version replaced XM_017013100.2.
            
            Summary: This gene encodes a member of the C1 family of peptidases.
            Alternative splicing of this gene results in multiple transcript
            variants. At least one of these variants encodes a preproprotein
            that is proteolytically processed to generate multiple protein
            products. These products include the cathepsin B light and heavy
            chains, which can dimerize to form the double chain form of the
            enzyme. This enzyme is a lysosomal cysteine protease with both
            endopeptidase and exopeptidase activity that may play a role in
            protein turnover. It is also known as amyloid precursor protein
            secretase and is involved in the proteolytic processing of amyloid
            precursor protein (APP). Incomplete proteolytic processing of APP
            has been suggested to be a causative factor in Alzheimer's disease,
            the most common cause of dementia. Overexpression of the encoded
            protein has been associated with esophageal adenocarcinoma and
            other tumors. Both Cathepsin B and Cathepsin L are involved in the
            cleavage of the spike protein from the severe acute respiratory
            syndrome coronavirus 2 (SARS-CoV-2) upon its entry to the human
            host cell. Multiple pseudogenes of this gene have been identified.
            [provided by RefSeq, Sep 2020].
            
            Transcript Variant: This variant (13) differs in the 5' UTR
            compared to variant 1. Both variants 1 and 13 encode the same
            protein.
            
            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 :: SRR14038193.3985548.1,
                                           SRR18074969.3325500.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2159080
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in SARS-CoV-2 infection
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                AC025857.5         135540-135626       c
            88-170              AC025857.5         125397-125479       c
            171-321             AC025857.5         120868-121018       c
            322-407             AC025857.5         120149-120234       c
            408-522             AC025857.5         118405-118519       c
            523-641             AC025857.5         116585-116703       c
            642-727             AC025857.5         115606-115691       c
            728-871             AC025857.5         115218-115361       c
            872-988             AC025857.5         114591-114707       c
            989-1117            AC025857.5         113200-113328       c
            1118-1177           AC025857.5         112702-112761       c
            1178-3816           AC069185.7         166441-169079       c
FEATURES             Location/Qualifiers
     source          1..3816
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..3816
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /note="cathepsin B"
                     /db_xref="GeneID:1508"
                     /db_xref="HGNC:HGNC:2527"
                     /db_xref="MIM:116810"
     exon            1..87
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            88..170
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            171..321
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     CDS             196..1215
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /EC_number="3.4.22.1"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 13; APP secretase; cathepsin B1; amyloid precursor
                     protein secretase; cysteine protease; epididymis secretory
                     sperm binding protein; keratolytic winter erythema
                     (Oudtshoorn skin disease)"
                     /codon_start=1
                     /product="cathepsin B isoform 1 preproprotein"
                     /protein_id="NP_001371657.1"
                     /db_xref="CCDS:CCDS5986.1"
                     /db_xref="GeneID:1508"
                     /db_xref="HGNC:HGNC:2527"
                     /db_xref="MIM:116810"
                     /translation="MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAG
                     HNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKLPASFDAREQWPQCPTIKEIRDQ
                     GSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
                     FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPT
                     YKQDKHYGYNSYSVSNSEKDIMAEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMG
                     GHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCGIESEVVAGIPRTDQ
                     YWEKI"
     exon            322..407
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            408..522
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            523..641
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            642..727
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            728..871
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            872..988
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1117
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..3816
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1999..2004
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /note="hexamer: AATAAA"
     polyA_site      2022
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
     regulatory      3793..3798
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /note="hexamer: AATAAA"
     polyA_site      3816
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /note="major polyA site"
ORIGIN      
        1 ggctgcaggg ctccggcaac cgctccggca acgccaaccg ctccgctgcg cgcaggctgg
       61 gctgcaggct ctcggctgca gcgctggcac gctggcggcc ccttgagccc caacctggat
      121 accatagggg aggagcagag aagccaggaa caccacagcc ctgggccaag gtggatctag
      181 gatccggctt ccaacatgtg gcagctctgg gcctccctct gctgcctgct ggtgttggcc
      241 aatgcccgga gcaggccctc tttccatccc ctgtcggatg agctggtcaa ctatgtcaac
      301 aaacggaata ccacgtggca ggccgggcac aacttctaca acgtggacat gagctacttg
      361 aagaggctat gtggtacctt cctgggtggg cccaagccac cccagagagt tatgtttacc
      421 gaggacctga agctgcctgc aagcttcgat gcacgggaac aatggccaca gtgtcccacc
      481 atcaaagaga tcagagacca gggctcctgt ggctcctgct gggccttcgg ggctgtggaa
      541 gccatctctg accggatctg catccacacc aatgcgcacg tcagcgtgga ggtgtcggcg
      601 gaggacctgc tcacatgctg tggcagcatg tgtggggacg gctgtaatgg tggctatcct
      661 gctgaagctt ggaacttctg gacaagaaaa ggcctggttt ctggtggcct ctatgaatcc
      721 catgtagggt gcagaccgta ctccatccct ccctgtgagc accacgtcaa cggctcccgg
      781 cccccatgca cgggggaggg agataccccc aagtgtagca agatctgtga gcctggctac
      841 agcccgacct acaaacagga caagcactac ggatacaatt cctacagcgt ctccaatagc
      901 gagaaggaca tcatggccga gatctacaaa aacggccccg tggagggagc tttctctgtg
      961 tattcggact tcctgctcta caagtcagga gtgtaccaac acgtcaccgg agagatgatg
     1021 ggtggccatg ccatccgcat cctgggctgg ggagtggaga atggcacacc ctactggctg
     1081 gttgccaact cctggaacac tgactggggt gacaatggct tctttaaaat actcagagga
     1141 caggatcact gtggaatcga atcagaagtg gtggctggaa ttccacgcac cgatcagtac
     1201 tgggaaaaga tctaatctgc cgtgggcctg tcgtgccagt cctgggggcg agatcggggt
     1261 agaaatgcat tttattcttt aagttcacgt aagatacaag tttcagacag ggtctgaagg
     1321 actggattgg ccaaacatca gacctgtctt ccaaggagac caagtcctgg ctacatccca
     1381 gcctgtggtt acagtgcaga caggccatgt gagccaccgc tgccagcaca gagcgtcctt
     1441 ccccctgtag actagtgccg tagggagtac ctgctgcccc agctgactgt ggccccctcc
     1501 gtgatccatc catctccagg gagcaagaca gagacgcagg aatggaaagc ggagttccta
     1561 acaggatgaa agttccccca tcagttcccc cagtacctcc aagcaagtag ctttccacat
     1621 ttgtcacaga aatcagagga gagacggtgt tgggagccct ttggagaacg ccagtctccc
     1681 aggccccctg catctatcga gtttgcaatg tcacaacctc tctgatcttg tgctcagcat
     1741 gattctttaa tagaagtttt attttttcgt gcactctgct aatcatgtgg gtgagccagt
     1801 ggaacagcgg gagacctgtg ctagttttac agattgcctc cttatgacgc ggctcaaaag
     1861 gaaaccaagt ggtcaggagt tgtttctgac ccactgatct ctactaccac aaggaaaata
     1921 gtttaggaga aaccagcttt tactgttttt gaaaaattac agcttcaccc tgtcaagtta
     1981 acaaggaatg cctgtgccaa taaaagtttt ctccaacttg aagtctactc tgatgggatc
     2041 tcagatcctt tgtcactgcc tatagacttg tagctgctgt ctctctttgt ccctgcagag
     2101 aatcacgtcc tggaactgca tgttcttgcg actcttggga cttcatctta acttctcgct
     2161 gccccagcca tgttttcaac catggcatcc ctcccccaat tagttccctg tcatcctcgt
     2221 caaccttctc tgtaagtgcc tggtaagctt gcccttgctt aagaactcaa aacatagctg
     2281 tgctctattt ttttgttgtt gttgtgactg acagagtgag attccgtctc ccaggctgga
     2341 gtgcagtggc gccttctcag ctcactgcaa cctgcagcct cctagattca agcgattctc
     2401 ctgcttcagc cttccgagta gctgggatga caggcactca ccaatatgcc tgggtaattt
     2461 ttgtattttt aagtacatac aggatttcac catgttggcc aggctagttt caaactcccg
     2521 gcctcaggtg gtctgcctgc ctcagcctcc caaagtgttg ggattacagg cgtgagccac
     2581 tgggccctgc ctgtattttt tatcagccac aaatccagca acaagctgag gattcagctc
     2641 ataaaacagg cttggtgtct tggtgatctc acataaccaa gatgctaccc cgtggggaac
     2701 cacatccccc tggatgccct ccagccttgg tttgggctgg agtcagggcc tgtatacagt
     2761 attttgaatt tgtatgccac tggtttgcat tgctggtcag gaactctagt gctttgcata
     2821 gccctggttt agaaacatgt tatagcagtt cttggtatag agcaaactag aagaaccagc
     2881 aatcattcca ctgtcctgcc aaggtacacc tcagtactcc ccttcccaac tgaagtggta
     2941 tgaggctagc tctttccaaa agcattcaag tttggcttct gatgtgactc agaatttagg
     3001 aaccagatgc tagatcaaat aagctctgaa aatctgagga acattgtagg aaaggtttgt
     3061 taagcatctc ttaagtgcca tgatgagcat aacagccggc cgtcgtggct cacgcctgta
     3121 atcccagcac tttgggaggc caaggtggga ggatgacaag gtcaggagtt caagaccagc
     3181 ctggccaaca tgctgaaacc tcacctctac taaaaataca aaaattagct gggcatggtg
     3241 gcacatgcct gtaatcccag ctacttggga ggctgaggca ggagaatcgc ttgaacccgg
     3301 gaggcggagg ttgcagtgag ccaagacagt gccagtgcac tccagcctcg gtgacagcgc
     3361 aaggctccgt ctcaataatt aaaaaaaaaa aaaaaaaaaa aaaggccggg cgcagtggct
     3421 caagcctgta atcccagcac tttgggaggc tgaggcgggc agatcacctg aggtcaggag
     3481 ttttgagatc agccttggca acacggtgaa accccatctc tactaaaaat acaaaattag
     3541 ccaagcatgc tggcacatgc ctgtaatccc agctactcgg gaggctgagg tacgagaatc
     3601 gcttgaacct gggaggcaga ggatgcagtg agccgagatc acgccattgc actccagcct
     3661 gggggacaag agtgaatctg tgtctcacca aaaaaaaaaa gaaaaagaaa gatgcttaac
     3721 aaaggttacc ataagccaca aattcataac cacttatcct tccagtttca agtagaatat
     3781 attcataacc tcaataaagt tctccctgct cccaaa
//
