LOCUS       NM_014289               3532 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens calpain 6 (CAPN6), mRNA.
ACCESSION   NM_014289
VERSION     NM_014289.4
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 3532)
  AUTHORS   Zhang,Y., Han,H., Qian,Y., Wang,Q. and Jiang,M.
  TITLE     Advanced glycation end products promote the progression of chronic
            kidney diseases by targeting calpain 6
  JOURNAL   Amino Acids 55 (7), 903-912 (2023)
   PUBMED   37243758
  REMARK    GeneRIF: Advanced glycation end products promote the progression of
            chronic kidney diseases by targeting calpain 6.
REFERENCE   2  (bases 1 to 3532)
  AUTHORS   Tchicaya-Bouanga,J., Hung,Y.J., Schwartz,J.M., Yoon,D.J.Y.,
            Chotard,E., Marty,C., Odri,G.A., de Pinieux,G., Cohen-Solal,M. and
            Modrowski,D.
  TITLE     A calpain-6/YAP axis in sarcoma stem cells that drives the
            outgrowth of tumors and metastases
  JOURNAL   Cell Death Dis 13 (9), 819 (2022)
   PUBMED   36153320
  REMARK    GeneRIF: A calpain-6/YAP axis in sarcoma stem cells that drives the
            outgrowth of tumors and metastases.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3532)
  AUTHORS   Goto,S., Ozaki,Y., Ozawa,F., Mizutani,E., Kitaori,T., Suzumori,N.,
            Blomgren,K., Furuno,T. and Sugiura-Ogasawara,M.
  TITLE     The investigation of calpain in human placenta with fetal growth
            restriction
  JOURNAL   Am J Reprod Immunol 85 (1), e13325 (2021)
   PUBMED   32852077
  REMARK    GeneRIF: The investigation of calpain in human placenta with fetal
            growth restriction.
REFERENCE   4  (bases 1 to 3532)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 3532)
  AUTHORS   Zhu,L., Sun,Y., Wu,Q., Zhang,C. and Ling,J.
  TITLE     CAPN6 Regulates Uterine Leiomyoma Cell Proliferation and Apoptosis
            through the Rac1-Dependent Signaling Pathway
  JOURNAL   Ann Clin Lab Sci 50 (1), 24-30 (2020)
   PUBMED   32161009
  REMARK    GeneRIF: CAPN6 Regulates Uterine Leiomyoma Cell Proliferation and
            Apoptosis through the Rac1-Dependent Signaling Pathway.
REFERENCE   6  (bases 1 to 3532)
  AUTHORS   Rojas,F.J., Brush,M. and Moretti-Rojas,I.
  TITLE     Calpain-calpastatin: a novel, complete calcium-dependent protease
            system in human spermatozoa
  JOURNAL   Mol Hum Reprod 5 (6), 520-526 (1999)
   PUBMED   10340998
REFERENCE   7  (bases 1 to 3532)
  AUTHORS   Matena,K., Boehm,T. and Dear,N.
  TITLE     Genomic organization of mouse Capn5 and Capn6 genes confirms that
            they are a distinct calpain subfamily
  JOURNAL   Genomics 48 (1), 117-120 (1998)
   PUBMED   9503024
REFERENCE   8  (bases 1 to 3532)
  AUTHORS   Dear,N., Matena,K., Vingron,M. and Boehm,T.
  TITLE     A new subfamily of vertebrate calpains lacking a calmodulin-like
            domain: implications for calpain regulation and evolution
  JOURNAL   Genomics 45 (1), 175-184 (1997)
   PUBMED   9339374
REFERENCE   9  (bases 1 to 3532)
  AUTHORS   Sorimachi,H., Saido,T.C. and Suzuki,K.
  TITLE     New era of calpain research. Discovery of tissue-specific calpains
  JOURNAL   FEBS Lett 343 (1), 1-5 (1994)
   PUBMED   8163008
  REMARK    Review article
REFERENCE   10 (bases 1 to 3532)
  AUTHORS   Adams,M.D., Soares,M.B., Kerlavage,A.R., Fields,C. and Venter,J.C.
  TITLE     Rapid cDNA sequencing (expressed sequence tags) from a
            directionally cloned human infant brain cDNA library
  JOURNAL   Nat Genet 4 (4), 373-380 (1993)
   PUBMED   8401585
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031117.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014289.3.
            
            Summary: Calpains are ubiquitous, well-conserved family of
            calcium-dependent, cysteine proteases. The calpain proteins are
            heterodimers consisting of an invariant small subunit and variable
            large subunits. The large subunit possesses a cysteine protease
            domain, and both subunits possess calcium-binding domains. Calpains
            have been implicated in neurodegenerative processes, as their
            activation can be triggered by calcium influx and oxidative stress.
            The protein encoded by this gene is highly expressed in the
            placenta. Its C-terminal region lacks any homology to the
            calmodulin-like domain of other calpains. The protein lacks
            critical active site residues and thus is suggested to be
            proteolytically inactive. The protein may play a role in tumor
            formation by inhibiting apoptosis and promoting angiogenesis.
            [provided by RefSeq, Nov 2009].
            
            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 :: AJ000388.1, AF029232.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324068.2/ ENSP00000317214.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-113               AL031117.1         56780-56892         c
            114-293             AL031117.1         50181-50360         c
            294-425             AL031117.1         40681-40812         c
            426-634             AL031117.1         39417-39625         c
            635-827             AL031117.1         38716-38908         c
            828-1021            AL031117.1         37958-38151         c
            1022-1099           AL031117.1         37618-37695         c
            1100-1286           AL031117.1         37326-37512         c
            1287-1409           AL031117.1         35344-35466         c
            1410-1612           AL031117.1         34978-35180         c
            1613-1734           AL031117.1         34280-34401         c
            1735-1871           AL031117.1         33777-33913         c
            1872-3532           AL031117.1         31508-33168         c
FEATURES             Location/Qualifiers
     source          1..3532
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     gene            1..3532
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /note="calpain 6"
                     /db_xref="GeneID:827"
                     /db_xref="HGNC:HGNC:1483"
                     /db_xref="MIM:300146"
     exon            1..113
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     exon            114..293
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..2054
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /note="calpamodulin; calpain-like protease X-linked"
                     /codon_start=1
                     /product="calpain-6"
                     /protein_id="NP_055104.2"
                     /db_xref="CCDS:CCDS14555.1"
                     /db_xref="GeneID:827"
                     /db_xref="HGNC:HGNC:1483"
                     /db_xref="MIM:300146"
                     /translation="MGPPLKLFKNQKYQELKQECIKDSRLFCDPTFLPENDSLFYNRL
                     LPGKVVWKRPQDICDDPHLIVGNISNHQLTQGRLGHKPMVSAFSCLAVQESHWTKTIP
                     NHKEQEWDPQKTEKYAGIFHFRFWHFGEWTEVVIDDLLPTINGDLVFSFSTSMNEFWN
                     ALLEKAYAKLLGCYEALDGLTITDIIVDFTGTLAETVDMQKGRYTELVEEKYKLFGEL
                     YKTFTKGGLICCSIESPNQEEQEVETDWGLLKGHTYTMTDIRKIRLGERLVEVFSAEK
                     VYMVRLRNPLGRQEWSGPWSEISEEWQQLTASDRKNLGLVMSDDGEFWMSLEDFCRNF
                     HKLNVCRNVNNPIFGRKELESVLGCWTVDDDPLMNRSGGCYNNRDTFLQNPQYIFTVP
                     EDGHKVIMSLQQKDLRTYRRMGRPDNYIIGFELFKVEMNRKFRLHHLYIQERAGTSTY
                     IDTRTVFLSKYLKKGNYVLVPTMFQHGRTSEFLLRIFSEVPVQLRELTLDMPKMSCWN
                     LARGYPKVVTQITVHSAEDLEKKYANETVNPYLVIKCGKEEVRSPVQKNTVHAIFDTQ
                     AIFYRRTTDIPIIVQVWNSRKFCDQFLGQVTLDADPSDCRDLKSLYLRKKGGPTAKVK
                     QGHISFKVISSDDLTEL"
     exon            294..425
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     exon            426..634
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     exon            635..827
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     exon            828..1021
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1099
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..1286
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1287..1409
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1410..1612
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..1734
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1735..1871
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1872..3532
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3507..3512
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /note="hexamer: AATAAA"
     polyA_site      3532
                     /gene="CAPN6"
                     /gene_synonym="CalpM; CANPX; CAPNX; DJ914P14.1"
                     /note="major polyA site"
ORIGIN      
        1 acactgactg aacagacttt tagtggggtt acctggctaa cagcagcagc ggcaacggca
       61 gcagcagcag cagcagcagc agcagcagca gcagggctcc tgggataact caggcatagt
      121 tcaacactat gggtcctcct ctgaagctct tcaaaaacca gaaataccag gaactgaagc
      181 aggaatgcat caaagacagc agacttttct gtgatccaac atttctgcct gagaatgatt
      241 ctcttttcta caaccgactg cttcctggaa aggtggtgtg gaaacgtccc caggacatct
      301 gtgatgaccc ccatctgatt gtgggcaaca ttagcaacca ccagctgacc caagggagac
      361 tggggcacaa gccaatggtt tctgcatttt cctgtttggc tgttcaggag tctcattgga
      421 caaagacaat tcccaaccat aaggaacagg aatgggaccc tcaaaaaaca gaaaaatacg
      481 ctgggatatt tcactttcgt ttctggcatt ttggagaatg gactgaagtg gtgattgatg
      541 acttgttgcc caccattaac ggagatctgg tcttctcttt ctccacttcc atgaatgagt
      601 tttggaatgc tctgctggaa aaagcttatg caaagctgct aggctgttat gaggccctgg
      661 atggtttgac catcactgat attattgtgg acttcacggg cacattggct gaaactgttg
      721 acatgcagaa aggaagatac actgagcttg ttgaggagaa gtacaagcta ttcggagaac
      781 tgtacaaaac atttaccaaa ggtggtctga tctgctgttc cattgagtct cccaatcagg
      841 aggagcaaga agttgaaact gattggggtc tgctgaaggg ccatacctat accatgactg
      901 atattcgcaa aattcgtctt ggagagagac ttgtggaagt cttcagtgct gagaaggtgt
      961 atatggttcg cctgagaaac cccttgggaa gacaggaatg gagtggcccc tggagtgaaa
     1021 tttctgaaga gtggcagcaa ctgactgcat cagatcgcaa gaacctgggg cttgttatgt
     1081 ctgatgatgg agagttttgg atgagcttgg aggacttttg ccgcaacttt cacaaactga
     1141 atgtctgccg caatgtgaac aaccctattt ttggccgaaa ggagctggaa tcggtgttgg
     1201 gatgctggac tgtggatgat gatcccctga tgaaccgctc aggaggctgc tataacaacc
     1261 gtgatacctt cctgcagaat ccccagtaca tcttcactgt gcctgaggat gggcacaagg
     1321 tcattatgtc actgcagcag aaggacctgc gcacttaccg ccgaatggga agacctgaca
     1381 attacatcat tggctttgag ctcttcaagg tggagatgaa ccgcaaattc cgcctccacc
     1441 acctctacat ccaggagcgt gctgggactt ccacctatat tgacacccgc acagtgtttc
     1501 tgagcaagta cctgaagaag ggcaactatg tgcttgtccc aaccatgttc cagcatggtc
     1561 gcaccagcga gtttctcctg agaatcttct ctgaagtgcc tgtccagctc agggaactga
     1621 ctctggacat gcccaaaatg tcctgctgga acctggctcg tggctacccg aaagtagtta
     1681 ctcagatcac tgttcacagt gctgaggacc tggagaagaa gtatgccaat gaaactgtaa
     1741 acccatattt ggtcatcaaa tgtggaaagg aggaagtccg ttctcctgtc cagaagaata
     1801 cagttcatgc catttttgac acccaggcca ttttctacag aaggaccact gacattccta
     1861 ttatagtaca ggtctggaac agccgaaaat tctgtgatca gttcttgggg caggttactc
     1921 tggatgctga ccccagcgac tgccgtgatc tgaagtctct gtacctgcgt aagaagggtg
     1981 gtccaactgc caaagtcaag caaggccaca tcagcttcaa ggttatttcc agcgatgatc
     2041 tcactgagct ctaaatctgc aatcccagag aatcctgaca aagcgtgcca cccttttatt
     2101 ttccgtcagg tgccaggtct tagttaagat tcacaatctt tagaaagaat gagattcaca
     2161 ataattaact cttcctctct tctgataaat tccccatacc tcccaatcca agtagcatct
     2221 gtagctacat aacctatata cctccagcag ctggacatgg ggaggcgaca gtcctatcta
     2281 gacatcatac acatttgcca agaaaggatc tctggggctt ccgggggtga gattcaagta
     2341 ggacaataac aagaggctgg acaccctaca gatgtctttg atgttttcag ttgtttgata
     2401 tatctcccct gtagggcatg ttgaggaagg aggagggctg atcaaggcca agctggtcta
     2461 gcctgacatc ctagctcctg actgaacact atagacttcc cagcagcatt tcacccagca
     2521 gccagagccg gctttaagtc cccaaccctt acagacacca ctgccaccac caccaaccac
     2581 gaccaccacc accaccacca ctcaccacca tcatcacctc cggaaagtgt agtcctgccc
     2641 taacccaagt cacccccgac agtaaatttt accttcatgt tgagaaagct tcctggtgct
     2701 taatcaagag ctggagttca atgagtccta gacagtgaga ggggcctgag cttcagctca
     2761 atggaagcct gctgtgtgcc acaagacgga aaagtggaag aagctgcagt gggagacaaa
     2821 gcctcggtcc cccacccatc cacacacacc tacactcaca cacgcgcaca tgggcgcgca
     2881 cgaactacca ttcaggcagt cagtgggcaa gaggaaagat aagtaagtac catacacacc
     2941 taaaagatga gagaattcat ccagacatat tacagccagt ttggggcccc tgactgcaat
     3001 gtgaaacctc tcgctgctgc taggtttaca aacaagccca ttgtcctgtg cctcctaata
     3061 tcatttgtac tgaagacccc atctggggac ttgagacttt ggtcccagcc cagactcctc
     3121 agacttttct ctcagttggg atgcttcact cgctgggggt gtttgtttgc cctctcattt
     3181 ttcagtactt ctacagaatt ttctctagag tcagtcatta tgaaatgtac ttccctccat
     3241 cttaacctat caactttctg cccctccttc aaggcccagt ataaatgcca cctcctccat
     3301 gaagccttcc ctaattccac cccaaacccc caccttcaac aatatttcaa cgcttctgca
     3361 atgatgaaaa agaaacatag ttgtagtact tagcctacct agaccagcaa gcattcattt
     3421 ttagctcgct cattttttac catgttttcc agtctgttta acttctgcag tgccttcact
     3481 acactgcctt acataaacca aatcacaata aagttcatat tcagtacatt ga
//
