LOCUS       NM_001908               3733 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.
ACCESSION   NM_001908
VERSION     NM_001908.5
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 3733)
  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 3733)
  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 3733)
  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 3733)
  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 3733)
  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 3733)
  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 3733)
  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 3733)
  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 3733)
  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 3733)
  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 DC386022.1, AK130184.1,
            AC069185.7 and AA516096.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001908.4.
            
            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 (1) encodes isoform (1). Variants
            1-5, and 7-13 encode the same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC095408.1, SRR1803616.155635.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: involved in SARS-CoV-2 infection
            MANE Ensembl match     :: ENST00000353047.11/ ENSP00000345672.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-187               DC386022.1         64-250
            188-1223            AK130184.1         188-1223
            1224-3488           AC069185.7         166686-168950       c
            3489-3733           AA516096.1         159-403
FEATURES             Location/Qualifiers
     source          1..3733
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..3733
                     /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..238
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     CDS             113..1132
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /EC_number="3.4.22.1"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; 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_001899.1"
                     /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            239..324
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            325..439
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            440..558
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            559..644
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            645..788
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            789..905
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1034
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..3733
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1916..1921
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /note="hexamer: AATAAA"
     polyA_site      1939
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
     regulatory      3710..3715
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /note="hexamer: AATAAA"
     polyA_site      3733
                     /gene="CTSB"
                     /gene_synonym="APPS; CPSB; KWE; RECEUP"
                     /note="major polyA site"
ORIGIN      
        1 ggctgcaggg ctccggcaac cgctccggca acgccaaccg ctccgctgcg cgcaggctgg
       61 gctgcaggct ctcggctgca gcgctgggtg gatctaggat ccggcttcca acatgtggca
      121 gctctgggcc tccctctgct gcctgctggt gttggccaat gcccggagca ggccctcttt
      181 ccatcccctg tcggatgagc tggtcaacta tgtcaacaaa cggaatacca cgtggcaggc
      241 cgggcacaac ttctacaacg tggacatgag ctacttgaag aggctatgtg gtaccttcct
      301 gggtgggccc aagccacccc agagagttat gtttaccgag gacctgaagc tgcctgcaag
      361 cttcgatgca cgggaacaat ggccacagtg tcccaccatc aaagagatca gagaccaggg
      421 ctcctgtggc tcctgctggg ccttcggggc tgtggaagcc atctctgacc ggatctgcat
      481 ccacaccaat gcgcacgtca gcgtggaggt gtcggcggag gacctgctca catgctgtgg
      541 cagcatgtgt ggggacggct gtaatggtgg ctatcctgct gaagcttgga acttctggac
      601 aagaaaaggc ctggtttctg gtggcctcta tgaatcccat gtagggtgca gaccgtactc
      661 catccctccc tgtgagcacc acgtcaacgg ctcccggccc ccatgcacgg gggagggaga
      721 tacccccaag tgtagcaaga tctgtgagcc tggctacagc ccgacctaca aacaggacaa
      781 gcactacgga tacaattcct acagcgtctc caatagcgag aaggacatca tggccgagat
      841 ctacaaaaac ggccccgtgg agggagcttt ctctgtgtat tcggacttcc tgctctacaa
      901 gtcaggagtg taccaacacg tcaccggaga gatgatgggt ggccatgcca tccgcatcct
      961 gggctgggga gtggagaatg gcacacccta ctggctggtt gccaactcct ggaacactga
     1021 ctggggtgac aatggcttct ttaaaatact cagaggacag gatcactgtg gaatcgaatc
     1081 agaagtggtg gctggaattc cacgcaccga tcagtactgg gaaaagatct aatctgccgt
     1141 gggcctgtcg tgccagtcct gggggcgaga tcggggtaga aatgcatttt attctttaag
     1201 ttcacgtaag atacaagttt cagacagggt ctgaaggact ggattggcca aacatcagac
     1261 ctgtcttcca aggagaccaa gtcctggcta catcccagcc tgtggttaca gtgcagacag
     1321 gccatgtgag ccaccgctgc cagcacagag cgtccttccc cctgtagact agtgccgtag
     1381 ggagtacctg ctgccccagc tgactgtggc cccctccgtg atccatccat ctccagggag
     1441 caagacagag acgcaggaat ggaaagcgga gttcctaaca ggatgaaagt tcccccatca
     1501 gttcccccag tacctccaag caagtagctt tccacatttg tcacagaaat cagaggagag
     1561 acggtgttgg gagccctttg gagaacgcca gtctcccagg ccccctgcat ctatcgagtt
     1621 tgcaatgtca caacctctct gatcttgtgc tcagcatgat tctttaatag aagttttatt
     1681 ttttcgtgca ctctgctaat catgtgggtg agccagtgga acagcgggag acctgtgcta
     1741 gttttacaga ttgcctcctt atgacgcggc tcaaaaggaa accaagtggt caggagttgt
     1801 ttctgaccca ctgatctcta ctaccacaag gaaaatagtt taggagaaac cagcttttac
     1861 tgtttttgaa aaattacagc ttcaccctgt caagttaaca aggaatgcct gtgccaataa
     1921 aagttttctc caacttgaag tctactctga tgggatctca gatcctttgt cactgcctat
     1981 agacttgtag ctgctgtctc tctttgtccc tgcagagaat cacgtcctgg aactgcatgt
     2041 tcttgcgact cttgggactt catcttaact tctcgctgcc ccagccatgt tttcaaccat
     2101 ggcatccctc ccccaattag ttccctgtca tcctcgtcaa ccttctctgt aagtgcctgg
     2161 taagcttgcc cttgcttaag aactcaaaac atagctgtgc tctatttttt tgttgttgtt
     2221 gtgactgaca gagtgagatt ccgtctccca ggctggagtg cagtggcgcc ttctcagctc
     2281 actgcaacct gcagcctcct agattcaagc gattctcctg cttcagcctt ccgagtagct
     2341 gggatgacag gcactcacca atatgcctgg gtaatttttg tatttttaag tacatacagg
     2401 atttcaccat gttggccagg ctagtttcaa actcccggcc tcaggtggtc tgcctgcctc
     2461 agcctcccaa agtgttggga ttacaggcgt gagccactgg gccctgcctg tattttttat
     2521 cagccacaaa tccagcaaca agctgaggat tcagctcata aaacaggctt ggtgtcttgg
     2581 tgatctcaca taaccaagat gctaccccgt ggggaaccac atccccctgg atgccctcca
     2641 gccttggttt gggctggagt cagggcctgt atacagtatt ttgaatttgt atgccactgg
     2701 tttgcattgc tggtcaggaa ctctagtgct ttgcatagcc ctggtttaga aacatgttat
     2761 agcagttctt ggtatagagc aaactagaag aaccagcaat cattccactg tcctgccaag
     2821 gtacacctca gtactcccct tcccaactga agtggtatga ggctagctct ttccaaaagc
     2881 attcaagttt ggcttctgat gtgactcaga atttaggaac cagatgctag atcaaataag
     2941 ctctgaaaat ctgaggaaca ttgtaggaaa ggtttgttaa gcatctctta agtgccatga
     3001 tgagcataac agccggccgt cgtggctcac gcctgtaatc ccagcacttt gggaggccaa
     3061 ggtgggagga tgacaaggtc aggagttcaa gaccagcctg gccaacatgc tgaaacctca
     3121 cctctactaa aaatacaaaa attagctggg catggtggca catgcctgta atcccagcta
     3181 cttgggaggc tgaggcagga gaatcgcttg aacccgggag gcggaggttg cagtgagcca
     3241 agacagtgcc agtgcactcc agcctcggtg acagcgcaag gctccgtctc aataattaaa
     3301 aaaaaaaaaa aaaaaaaaaa ggccgggcgc agtggctcaa gcctgtaatc ccagcacttt
     3361 gggaggctga ggcgggcaga tcacctgagg tcaggagttt tgagatcagc cttggcaaca
     3421 cggtgaaacc ccatctctac taaaaataca aaattagcca agcatgctgg cacatgcctg
     3481 taatcccagc tactcgggag gctgaggtac gagaatcgct tgaacctggg aggcagagga
     3541 tgcagtgagc cgagatcacg ccattgcact ccagcctggg ggacaagagt gaatctgtgt
     3601 ctcaccaaaa aaaaaaagaa aaagaaagat gcttaacaaa ggttaccata agccacaaat
     3661 tcataaccac ttatccttcc agtttcaagt agaatatatt cataacctca ataaagttct
     3721 ccctgctccc aaa
//
