LOCUS       NM_144691               3129 bp    mRNA    linear   PRI 07-FEB-2024
DEFINITION  Homo sapiens calpain 12 (CAPN12), mRNA.
ACCESSION   NM_144691 XM_290840
VERSION     NM_144691.4
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 3129)
  AUTHORS   Bochner,R., Samuelov,L., Sarig,O., Li,Q., Adase,C.A., Isakov,O.,
            Malchin,N., Vodo,D., Shayevitch,R., Peled,A., Yu,B.D., Fainberg,G.,
            Warshauer,E., Adir,N., Erez,N., Gat,A., Gottlieb,Y., Rogers,T.,
            Pavlovsky,M., Goldberg,I., Shomron,N., Sandilands,A.,
            Campbell,L.E., MacCallum,S., McLean,W.H.I., Ast,G., Gallo,R.L.,
            Uitto,J. and Sprecher,E.
  TITLE     Calpain 12 Function Revealed through the Study of an Atypical Case
            of Autosomal Recessive Congenital Ichthyosis
  JOURNAL   J Invest Dermatol 137 (2), 385-393 (2017)
   PUBMED   27769845
  REMARK    GeneRIF: calpain 12 plays an essential role during epidermal
            ontogenesis and normal hair follicle cycling.
REFERENCE   2  (bases 1 to 3129)
  AUTHORS   Dear,T.N., Meier,N.T., Hunn,M. and Boehm,T.
  TITLE     Gene structure, chromosomal localization, and expression pattern of
            Capn12, a new member of the calpain large subunit gene family
  JOURNAL   Genomics 68 (2), 152-160 (2000)
   PUBMED   10964513
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK127398.1, DA384049.1, BE872274.1 and AC022144.8.
            
            On Dec 11, 2014 this sequence version replaced NM_144691.3.
            
            Summary: The calpains, calcium-activated neutral proteases, are
            nonlysosomal, intracellular cysteine proteases. The mammalian
            calpains include ubiquitous, stomach-specific, and muscle-specific
            proteins. The ubiquitous enzymes consist of heterodimers with
            distinct large, catalytic subunits associated with a common small,
            regulatory subunit. This gene encodes a member of the calpain large
            subunit family. [provided by RefSeq, Jun 2012].
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK127398.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328867.9/ ENSP00000331636.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-638               AK127398.1         1-638
            639-861             DA384049.1         340-562
            862-2195            AK127398.1         862-2195
            2196-2306           BE872274.1         161-271
            2307-2442           AK127398.1         2307-2442
            2443-3129           AC022144.8         74401-75087
FEATURES             Location/Qualifiers
     source          1..3129
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..3129
                     /gene="CAPN12"
                     /note="calpain 12"
                     /db_xref="GeneID:147968"
                     /db_xref="HGNC:HGNC:13249"
                     /db_xref="MIM:608839"
     exon            1..546
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     CDS             310..2469
                     /gene="CAPN12"
                     /note="CANP 12; calcium-activated neutral proteinase 12"
                     /codon_start=1
                     /product="calpain-12"
                     /protein_id="NP_653292.2"
                     /db_xref="CCDS:CCDS12519.1"
                     /db_xref="GeneID:147968"
                     /db_xref="HGNC:HGNC:13249"
                     /db_xref="MIM:608839"
                     /translation="MASSSGRVTIQLVDEEAGVGAGRLQLFRGQSYEAIRAACLDSGI
                     LFRDPYFPAGPDALGYDQLGPDSEKAKGVKWMRPHEFCAEPKFICEDMSRTDVCQGSL
                     GNCWFLAAAASLTLYPRLLRRVVPPGQDFQHGYAGVFHFQLWQFGRWMDVVVDDRLPV
                     REGKLMFVRSEQRNEFWAPLLEKAYAKLHGSYEVMRGGHMNEAFVDFTGGVGEVLYLR
                     QNSMGLFSALRHALAKESLVGATALSDRGEYRTEEGLVKGHAYSITGTHKVFLGFTKV
                     RLLRLRNPWGCVEWTGAWSDSCPRWDTLPTECRDALLVKKEDGEFWMELRDFLLHFDT
                     VQICSLSPEVLGPSPEGGGWHVHTFQGRWVRGFNSGGSQPNAETFWTNPQFRLTLLEP
                     DEEDDEDEEGPWGGWGAAGARGPARGGRTPKCTVLLSLIQRNRRRLRAKGLTYLTVGF
                     HVFQIPEELLGLWDSPRSHALLPRLLRADRSPLSARRDVTRRCCLRPGHYLVVPSTAH
                     AGDEADFTLRVFSERRHTAVEIDDVISADLQSLQGPYLPLELGLEQLFQELAGEEEEL
                     NASQLQALLSIALEPARAHTSTPREIGLRTCEQLLQCFGHGQSLALHHFQQLWGYLLE
                     WQAIFNKFDEDTSGTMNSYELRLALNAAGFHLNNQLTQTLTSRYRDSRLRVDFERFVS
                     CVAHLTCIFCHCSQHLDGGEGVICLTHRQWMEVATFS"
     exon            547..616
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            617..735
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            736..869
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            870..1038
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1113
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1199
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..1274
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            1275..1438
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            1439..1671
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            1672..1683
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..1892
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            1893..1935
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..1995
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            1996..2053
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            2054..2124
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            2125..2187
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            2188..2266
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            2267..2383
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            2384..2442
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     exon            2443..3129
                     /gene="CAPN12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3092..3097
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPN12"
                     /note="hexamer: AATAAA"
     regulatory      3108..3113
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPN12"
                     /note="hexamer: AATAAA"
     polyA_site      3118
                     /gene="CAPN12"
                     /note="major polyA site"
     polyA_site      3129
                     /gene="CAPN12"
                     /note="major polyA site"
ORIGIN      
        1 actgacctcc ttcttggtgc tctgacagcg gcagccggtc ctccctcagc tctgcccgcc
       61 ttctctcctg ctgctggcca agcccattaa gctgctacct tggccacaac tgaaggcccc
      121 acgccctggg aagaaagcta ctgaagaggc gtccctgctc cccagcaccc caaaccatca
      181 attaatatta acgagggaag gctcctcatt gcctaaagac cccactgggg ctccaatgga
      241 agagaggccc cgcccccgtg actcaggagg ttaaagggcc tggtgccggc ttgtgaggcc
      301 agtgtccaga tggcatccag cagtgggagg gtcaccatcc agctcgtgga tgaggaggct
      361 ggggtcggag ccgggcgcct gcagcttttt cggggccaga gctatgaggc aattcgggca
      421 gcctgcctgg attcggggat cctgttccgc gacccttact tccctgctgg ccctgatgcc
      481 cttggctatg accagctggg gccggactcg gagaaggcca aaggcgtgaa atggatgagg
      541 ccccatgagt tctgtgctga gccgaagttc atctgtgaag acatgagccg cacagacgtg
      601 tgtcagggga gcctgggtaa ctgctggttc cttgcagctg ccgcctccct tactctgtat
      661 ccccggctcc tgcgccgggt ggtccctcct ggacaggatt tccagcatgg ctacgcaggc
      721 gtcttccact tccagctctg gcagtttggc cgctggatgg acgtcgtggt ggatgacagg
      781 ctgcccgtgc gtgaggggaa gctgatgttc gtgcgctcgg aacagcggaa tgagttctgg
      841 gccccactcc tggagaaggc ctacgccaag ctccacggct cctatgaggt gatgcggggc
      901 ggccacatga atgaggcttt tgtggatttc acaggcggcg tgggcgaggt gctctatctg
      961 agacaaaaca gcatggggct gttctctgcc ctgcgccatg ccctggccaa ggagtccctc
     1021 gtgggcgcca ctgccctgag tgatcggggt gagtaccgca cagaagaggg cctggtaaag
     1081 ggacacgcgt attccatcac gggcacacac aaggtgttcc tgggcttcac caaggtgcgg
     1141 ctgctgcggc tgcggaaccc atggggctgc gtggagtgga cgggggcctg gagcgacagc
     1201 tgcccacgct gggacacact ccccaccgag tgccgcgatg ccctgctggt gaaaaaggag
     1261 gatggcgagt tctggatgga gctgcgggac ttcctcctcc atttcgacac cgtgcagatc
     1321 tgctcgctga gcccggaggt gctgggcccc agcccggagg ggggcggctg gcacgtccac
     1381 accttccaag gccgctgggt gcgtggcttc aactccggcg ggagccagcc taatgctgaa
     1441 accttctgga ccaatcctca gttccgttta acgctgctgg agcctgatga ggaggatgac
     1501 gaggatgagg aagggccctg ggggggctgg ggggctgcag gggcacgggg cccagcgcgg
     1561 gggggccgca cgcccaagtg cacggtcctt ctgtccctca tccagcgcaa ccggcggcgc
     1621 ctgagagcca agggcctcac ttacctcacc gttggcttcc acgtgttcca gattccagag
     1681 gagctgctgg gcctctggga ttccccgcgc agccatgcgc tcctgccccg gctgctgcgc
     1741 gccgaccgct cgcccctcag cgcccgccgc gacgtgaccc gccgctgctg cctgcgtcca
     1801 ggccactacc tggtggtgcc gagcaccgcc cacgccggcg acgaggctga cttcactctg
     1861 cgtgtcttct ccgagcgccg ccacacggcc gtggagatcg acgacgtgat cagcgcagac
     1921 ctgcagtctc tccagggccc ctacctgccc ctggagctgg ggttggagca gctgtttcag
     1981 gagctggctg gagaggagga agaactcaat gcctctcagc tccaggcctt actaagcatt
     2041 gccctggagc ctgccagggc ccatacctcc acccccagag agatcgggct caggacctgt
     2101 gagcagctgc tgcagtgttt cgggcatggg caaagcctgg ccttacacca cttccagcag
     2161 ctctggggct acctcctgga gtggcaggcc atatttaaca agttcgatga ggacacctct
     2221 ggaaccatga actcctacga gctgaggctg gcactgaatg cagcaggctt ccacctgaac
     2281 aaccagctga cccagaccct caccagccgc taccgggata gccgtctgcg tgtggacttc
     2341 gagcggttcg tgtcctgtgt ggcccacctc acctgcatct tctgccactg cagccagcac
     2401 ctggatgggg gtgagggggt catctgcctg acccacagac agtggatgga ggtggccacc
     2461 ttctcctagg atctccggat gggcgcacct gctgctcagg gcagggttgc tgagcaagac
     2521 cacctcccta ggccttgcct ggcatgggtg ccactctctc tggcatccac ctgtctgggg
     2581 ctagtctctg gccctcactg ctcacggccg ggtgaccact ctggcctgcg tactcctcac
     2641 tcagaaacaa gaacagcgac agcccttctc gagcagatga cacgagctag tccacgttga
     2701 cagcttaaga cagtgctagc tctgccctgg ctctcctaga aggtggagga cagacacagg
     2761 agaaataaaa aaagatgatg ctgcaggaat ccttcttaaa aatattacat gttttattat
     2821 cctgtcccca gagggtggtt tatccagaaa ccaagaaaaa aaatcaatca gaataaactc
     2881 aaaaaaaaaa ggtaggggga gcaaaaccat caaccaccag gcagccaggc catcagccca
     2941 cctccacctc tggagggtcc ccagagaccc acgcccgacg cagacccgga ggagcatcag
     3001 caaggggccc gggcagagaa tcggctatgt cttcattatg agagcaggag agacggcaga
     3061 gatatgttgc taggtgaata tatatttata taataaatcc gtaagttaat aaagtaaata
     3121 gtaattctc
//
