LOCUS       NM_003793               2044 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens cathepsin F (CTSF), mRNA.
ACCESSION   NM_003793
VERSION     NM_003793.4
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 2044)
  AUTHORS   Wang,Y., Mei,J., Zhang,Y., He,X., Zheng,X., Tan,J., Jia,Q., Li,N.,
            Li,D., Wang,Y. and Meng,Z.
  TITLE     Cathepsin F genetic mutation is associated with familial papillary
            thyroid cancer
  JOURNAL   Am J Med Sci 364 (4), 414-424 (2022)
   PUBMED   35447134
  REMARK    GeneRIF: Cathepsin F genetic mutation is associated with familial
            papillary thyroid cancer.
REFERENCE   2  (bases 1 to 2044)
  AUTHORS   Zheng,L., Cao,J., Liu,L., Xu,H., Chen,L., Kang,L. and Gao,L.
  TITLE     Long noncoding RNA LINC00982 upregulates CTSF expression to inhibit
            gastric cancer progression via the transcription factor HEY1
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 320 (5), G816-G828 (2021)
   PUBMED   33236952
  REMARK    GeneRIF: Long noncoding RNA LINC00982 upregulates CTSF expression
            to inhibit gastric cancer progression via the transcription factor
            HEY1.
REFERENCE   3  (bases 1 to 2044)
  AUTHORS   Berkovic,S.F., Oliver,K.L., Canafoglia,L., Krieger,P.,
            Damiano,J.A., Hildebrand,M.S., Morbin,M., Vears,D.F., Sofia,V.,
            Giuliano,L., Garavaglia,B., Simonati,A., Santorelli,F.M.,
            Gambardella,A., Labate,A., Belcastro,V., Castellotti,B., Ozkara,C.,
            Zeman,A., Rankin,J., Mole,S.E., Aguglia,U., Farrell,M.,
            Rajagopalan,S., McDougall,A., Brammah,S., Andermann,F.,
            Andermann,E., Dahl,H.M., Franceschetti,S. and Carpenter,S.
  TITLE     Kufs disease due to mutation of CLN6: clinical, pathological and
            molecular genetic features
  JOURNAL   Brain 142 (1), 59-69 (2019)
   PUBMED   30561534
  REMARK    GeneRIF: Clinical distinction of type A (progressive myoclonus
            epilepsy) and type B (dementia with motor disturbance) Kufs disease
            was supported by molecular diagnoses. Type A is usually caused by
            recessive pathogenic variants in CLN6 or dominant variants in
            DNAJC5. Type B Kufs is usually associated with recessive CTSF
            pathogenic variants.
REFERENCE   4  (bases 1 to 2044)
  AUTHORS   Ji,C., Zhao,Y., Kou,Y.W., Shao,H., Guo,L., Bao,C.H., Jiang,B.C.,
            Chen,X.Y., Dai,J.W., Tong,Y.X., Yang,R., Sun,W. and Wang,Q.
  TITLE     Cathepsin F Knockdown Induces Proliferation and Inhibits Apoptosis
            in Gastric Cancer Cells
  JOURNAL   Oncol Res 26 (1), 83-93 (2018)
   PUBMED   28474574
  REMARK    GeneRIF: The CTSF gene may function as a tumor suppressor in
            gastric cancer
REFERENCE   5  (bases 1 to 2044)
  AUTHORS   Wex,T., Levy,B., Wex,H. and Bromme,D.
  TITLE     Human cathepsins F and W: A new subgroup of cathepsins
  JOURNAL   Biochem Biophys Res Commun 259 (2), 401-407 (1999)
   PUBMED   10362521
REFERENCE   6  (bases 1 to 2044)
  AUTHORS   Santamaria,I., Velasco,G., Pendas,A.M., Paz,A. and Lopez-Otin,C.
  TITLE     Molecular cloning and structural and functional characterization of
            human cathepsin F, a new cysteine proteinase of the papain family
            with a long propeptide domain
  JOURNAL   J Biol Chem 274 (20), 13800-13809 (1999)
   PUBMED   10318784
REFERENCE   7  (bases 1 to 2044)
  AUTHORS   Nagler,D.K., Sulea,T. and Menard,R.
  TITLE     Full-length cDNA of human cathepsin F predicts the presence of a
            cystatin domain at the N-terminus of the cysteine protease zymogen
  JOURNAL   Biochem Biophys Res Commun 257 (2), 313-318 (1999)
   PUBMED   10198209
REFERENCE   8  (bases 1 to 2044)
  AUTHORS   Wang,B., Shi,G.P., Yao,P.M., Li,Z., Chapman,H.A. and Bromme,D.
  TITLE     Human cathepsin F. Molecular cloning, functional expression, tissue
            localization, and enzymatic characterization
  JOURNAL   J Biol Chem 273 (48), 32000-32008 (1998)
   PUBMED   9822672
REFERENCE   9  (bases 1 to 2044)
  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   10 (bases 1 to 2044)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002748.4, AF088886.2,
            BC011682.2, AF136279.1 and AL137742.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003793.3.
            
            Summary: Cathepsins are papain family cysteine proteinases that
            represent a major component of the lysosomal proteolytic system.
            Cathepsins generally contain a signal sequence, followed by a
            propeptide and then a catalytically active mature region. The very
            long (251 amino acid residues) proregion of the cathepsin F
            precursor contains a C-terminal domain similar to the pro-segment
            of cathepsin L-like enzymes, a 50-residue flexible linker peptide,
            and an N-terminal domain predicted to adopt a cystatin-like fold.
            The cathepsin F proregion is unique within the papain family
            cysteine proteases in that it contains this additional N-terminal
            segment predicted to share structural similarities with cysteine
            protease inhibitors of the cystatin superfamily. This cystatin-like
            domain contains some of the elements known to be important for
            inhibitory activity. CTSF encodes a predicted protein of 484 amino
            acids which contains a 19 residue signal peptide. Cathepsin F
            contains five potential N-glycosylation sites, and it may be
            targeted to the endosomal/lysosomal compartment via the mannose
            6-phosphate receptor pathway. The cathepsin F gene is ubiquitously
            expressed, and it maps to chromosome 11q13, close to the gene
            encoding cathepsin W. [provided by RefSeq, Jul 2008].
            
            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 :: SRR3476690.1065825.1,
                                           SRR3476690.372424.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310325.10/ ENSP00000310832.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                AP002748.4         141739-141768       c
            31-245              AF088886.2         1-215
            246-338             BC011682.2         210-302
            339-1032            AF136279.1         308-1001
            1033-1520           BC011682.2         997-1484
            1521-1576           AF136279.1         1490-1545
            1577-2044           AL137742.1         1389-1856
FEATURES             Location/Qualifiers
     source          1..2044
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..2044
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /note="cathepsin F"
                     /db_xref="GeneID:8722"
                     /db_xref="HGNC:HGNC:2531"
                     /db_xref="MIM:603539"
     exon            1..333
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     CDS             121..1575
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /EC_number="3.4.22.41"
                     /codon_start=1
                     /product="cathepsin F precursor"
                     /protein_id="NP_003784.2"
                     /db_xref="CCDS:CCDS8144.1"
                     /db_xref="GeneID:8722"
                     /db_xref="HGNC:HGNC:2531"
                     /db_xref="MIM:603539"
                     /translation="MAPWLQLLSLLGLLPGAVAAPAQPRAASFQAWGPPSPELLAPTR
                     FALEMFNRGRAAGTRAVLGLVRGRVRRAGQGSLYSLEATLEEPPCNDPMVCRLPVSKK
                     TLLCSFQVLDELGRHVLLRKDCGPVDTKVPGAGEPKSAFTQGSAMISSLSQNHPDNRN
                     ETFSSVISLLNEDPLSQDLPVKMASIFKNFVITYNRTYESKEEARWRLSVFVNNMVRA
                     QKIQALDRGTAQYGVTKFSDLTEEEFRTIYLNTLLRKEPGNKMKQAKSVGDLAPPEWD
                     WRSKGAVTKVKDQGMCGSCWAFSVTGNVEGQWFLNQGTLLSLSEQELLDCDKMDKACM
                     GGLPSNAYSAIKNLGGLETEDDYSYQGHMQSCNFSAEKAKVYINDSVELSQNEQKLAA
                     WLAKRGPISVAINAFGMQFYRHGISRPLRPLCSPWLIDHAVLLVGYGNRSDVPFWAIK
                     NSWGTDWGEKGYYYLHRGSGACGVNTMASSAVVD"
     exon            334..432
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     exon            433..651
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     exon            652..727
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     exon            728..841
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     exon            842..987
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1084
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1165
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1285
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1286..1350
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..1441
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1442..1500
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1501..2044
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2021..2026
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /note="hexamer: AATAAA"
     polyA_site      2044
                     /gene="CTSF"
                     /gene_synonym="CATSF; CLN13"
                     /note="major polyA site"
ORIGIN      
        1 attggtcggc gtgccgtcgc cccgctggag ggaggactca ggccccgctg gccgcgggct
       61 cggtacccgg tgggtcggtg gagcgtctgt tgggtccggg ccgccggctt cgccctcgcc
      121 atggcgccct ggctgcagct cctgtcgctg ctggggctgc tcccgggcgc agtggccgcc
      181 cccgcccagc cccgagccgc cagctttcag gcctgggggc cgccgtcccc ggagctgctg
      241 gcgcccaccc gcttcgcgct ggagatgttc aaccgcggcc gggctgcggg gacgcgggcc
      301 gtgctgggcc ttgtgcgcgg ccgcgtccgc cgggcgggtc aggggtcgct gtactccctg
      361 gaggccaccc tggaggagcc accctgcaac gaccccatgg tgtgccggct ccccgtgtcc
      421 aagaaaaccc tgctctgcag cttccaagtc ctggatgagc tcggaagaca cgtgctgctg
      481 cggaaggact gtggcccagt ggacaccaag gttccaggtg ctggggagcc caagtcagcc
      541 ttcactcagg gctcagccat gatttcttct ctgtcccaaa accatccaga caacagaaac
      601 gagactttca gctcagtcat ttccctgttg aatgaggatc ccctgtccca ggacttgcct
      661 gtgaagatgg cttcaatctt caagaacttt gtcattacct ataaccggac atatgagtca
      721 aaggaagaag cccggtggcg cctgtccgtc tttgtcaata acatggtgcg agcacagaag
      781 atccaggccc tggaccgtgg cacagctcag tatggagtca ccaagttcag tgatctcaca
      841 gaggaggagt tccgcactat ctacctgaat actctcctga ggaaagagcc tggcaacaag
      901 atgaagcaag ccaagtctgt gggtgacctc gccccacctg aatgggactg gaggagtaag
      961 ggggctgtca caaaagtcaa agaccagggc atgtgtggct cctgctgggc cttctcagtc
     1021 acaggcaatg tggagggcca gtggtttctc aaccagggga ccctgctctc cctctctgaa
     1081 caggagctct tggactgtga caagatggac aaggcctgca tgggcggctt gccctccaat
     1141 gcctactcgg ccataaagaa tttgggaggg ctggagacag aggatgacta cagctaccag
     1201 ggtcacatgc agtcctgcaa cttctcagca gagaaggcca aggtctacat caatgactcc
     1261 gtggagctga gccagaacga gcagaagctg gcagcctggc tggccaagag aggcccaatc
     1321 tccgtggcca tcaatgcctt tggcatgcag ttttaccgcc acgggatctc ccgccctctc
     1381 cggcccctct gcagcccttg gctcattgac catgcggtgt tgcttgtggg ctacggcaac
     1441 cgctctgacg ttcccttttg ggccatcaag aacagctggg gcactgactg gggtgagaag
     1501 ggttactact acttgcatcg tgggtccggg gcctgtggcg tgaacaccat ggccagctcg
     1561 gcggtggtgg actgaagagg ggcccccagc tcgggacctg gtgctgatca gagtggctgc
     1621 tgccccagcc tgacatgtgt ccaggcccct ccccgggagg tacagctggc agagggaaag
     1681 gcactgggta cctcagggtg agcagagggc actgggctgg ggcacagccc ctgcttccct
     1741 gcaccccatt cccaccctga agttctgcac ctgcaccttt gttgaattgt ggtagcttag
     1801 gaggatgtcg gggtgaaggg tggtatcttg gcagttgaag ctggggcaag aactctgggc
     1861 ttgggtaatg agcaggaaga aaattttctg atcttaagcc cagctctgtt ctgcccccgc
     1921 tttcctctgt ttgatactat aaattttctg gttcccttgg atttagggat agtgtccctc
     1981 tccatgtcca ggaaacttgt aaccaccctt ttctaacagc aataaagagg tgtccttgtc
     2041 ccga
//
