LOCUS       NM_001145122            3792 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens calpain 14 (CAPN14), transcript variant 1, mRNA.
ACCESSION   NM_001145122 XR_017746 XR_017761 XR_040604 XR_040605
VERSION     NM_001145122.2
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 3792)
  AUTHORS   Lyles,J.L., Martin,L.J., Shoda,T., Collins,M.H., Trimarchi,M.P.,
            He,H., Kottyan,L.C., Mukkada,V.A. and Rothenberg,M.E.
  TITLE     Very early onset eosinophilic esophagitis is common, responds to
            standard therapy, and demonstrates enrichment for CAPN14 genetic
            variants
  JOURNAL   J Allergy Clin Immunol 147 (1), 244-254 (2021)
   PUBMED   33446329
  REMARK    GeneRIF: Very early onset eosinophilic esophagitis is common,
            responds to standard therapy, and demonstrates enrichment for
            CAPN14 genetic variants.
REFERENCE   2  (bases 1 to 3792)
  AUTHORS   Ryu,S., Lee,K.H., Tizaoui,K., Terrazzino,S., Cargnin,S.,
            Effenberger,M., Shin,J.I. and Kronbichler,A.
  TITLE     Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of
            the Genetic and Molecular Aspects
  JOURNAL   Int J Mol Sci 21 (19), 7253 (2020)
   PUBMED   33008138
  REMARK    GeneRIF: Pathogenesis of Eosinophilic Esophagitis: A Comprehensive
            Review of the Genetic and Molecular Aspects.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3792)
  AUTHORS   Miller,D.E., Forney,C., Rochman,M., Cranert,S., Habel,J., Rymer,J.,
            Lynch,A., Schroeder,C., Lee,J., Sauder,A., Smith,Q., Chawla,M.,
            Trimarchi,M.P., Lu,X., Fjellman,E., Brusilovsky,M., Barski,A.,
            Waggoner,S., Weirauch,M.T., Rothenberg,M.E. and Kottyan,L.C.
  TITLE     Genetic, Inflammatory, and Epithelial Cell Differentiation Factors
            Control Expression of Human Calpain-14
  JOURNAL   G3 (Bethesda) 9 (3), 729-736 (2019)
   PUBMED   30626591
  REMARK    GeneRIF: The risk variant (SNP) in CAPN14 promoter dampens CAPN14
            expression in differentiated esophageal epithelial cells following
            IL-13/STAT6 induction of CAPN14 promoter activity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3792)
  AUTHORS   Litosh,V.A., Rochman,M., Rymer,J.K., Porollo,A., Kottyan,L.C. and
            Rothenberg,M.E.
  TITLE     Calpain-14 and its association with eosinophilic esophagitis
  JOURNAL   J Allergy Clin Immunol 139 (6), 1762-1771 (2017)
   PUBMED   28131390
  REMARK    GeneRIF: CAPN14 is a unique protease with distinct tissue-specific
            expression and function in patients with EoE and is a potential
            therapeutic target for EoE and related eosinophilic and allergic
            diseases
            Review article
REFERENCE   5  (bases 1 to 3792)
  AUTHORS   Sleiman,P.M., Wang,M.L., Cianferoni,A., Aceves,S., Gonsalves,N.,
            Nadeau,K., Bredenoord,A.J., Furuta,G.T., Spergel,J.M. and
            Hakonarson,H.
  TITLE     GWAS identifies four novel eosinophilic esophagitis loci
  JOURNAL   Nat Commun 5, 5593 (2014)
   PUBMED   25407941
  REMARK    GeneRIF: Eosinophilic esophagitis was associate with increased
            expression of CAPN14.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3792)
  AUTHORS   Kottyan,L.C., Davis,B.P., Sherrill,J.D., Liu,K., Rochman,M.,
            Kaufman,K., Weirauch,M.T., Vaughn,S., Lazaro,S., Rupert,A.M.,
            Kohram,M., Stucke,E.M., Kemme,K.A., Magnusen,A., He,H.,
            Dexheimer,P., Chehade,M., Wood,R.A., Pesek,R.D., Vickery,B.P.,
            Fleischer,D.M., Lindbad,R., Sampson,H.A., Mukkada,V.A.,
            Putnam,P.E., Abonia,J.P., Martin,L.J., Harley,J.B. and
            Rothenberg,M.E.
  TITLE     Genome-wide association analysis of eosinophilic esophagitis
            provides insight into the tissue specificity of this allergic
            disease
  JOURNAL   Nat Genet 46 (8), 895-900 (2014)
   PUBMED   25017104
REFERENCE   7  (bases 1 to 3792)
  AUTHORS   Dear,T.N. and Boehm,T.
  TITLE     Identification and characterization of two novel calpain large
            subunit genes
  JOURNAL   Gene 274 (1-2), 245-252 (2001)
   PUBMED   11675017
REFERENCE   8  (bases 1 to 3792)
  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
            DC347418.1, AC015980.4, AK296910.1, AK092257.1 and AA743820.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001145122.1.
            
            Summary: Calpains are a family of cytosolic calcium-activated
            cysteine proteases involved in a variety of cellular processes
            including apoptosis, cell division, modulation of
            integrin-cytoskeletal interactions, and synaptic plasticity (Dear
            et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain
            large subunit family.[supplied by OMIM, Mar 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK296910.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000403897.4/ ENSP00000385247.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DC347418.1         31-41
            12-53               AC015980.4         84697-84738         c
            54-522              DC347418.1         84-552
            523-1063            AK296910.1         521-1061
            1064-1383           AK092257.1         1059-1378
            1384-1384           AC015980.4         59175-59175         c
            1385-2570           AK296910.1         1383-2568
            2571-3345           AC015980.4         40737-41511         c
            3346-3792           AA743820.1         20-466              c
FEATURES             Location/Qualifiers
     source          1..3792
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.1"
     gene            1..3792
                     /gene="CAPN14"
                     /note="calpain 14"
                     /db_xref="GeneID:440854"
                     /db_xref="HGNC:HGNC:16664"
                     /db_xref="MIM:610229"
     exon            1..60
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            61..337
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     CDS             113..2167
                     /gene="CAPN14"
                     /EC_number="3.4.22.-"
                     /note="isoform 1 is encoded by transcript variant 1; CANP
                     14; calcium-activated neutral proteinase 14"
                     /codon_start=1
                     /product="calpain-14 isoform 1"
                     /protein_id="NP_001138594.1"
                     /db_xref="CCDS:CCDS46254.1"
                     /db_xref="GeneID:440854"
                     /db_xref="HGNC:HGNC:16664"
                     /db_xref="MIM:610229"
                     /translation="MSLWPPFRCRWKLAPRYSRRASPQQPQQDFEALLAECLRNGCLF
                     EDTSFPATLSSIGSGSLLQKLPPRLQWKRPPELHSNPQFYFAKAKRLDLCQGIVGDCW
                     FLAALQALALHQDILSRVVPLNQSFTEKYAGIFRFWFWHYGNWVPVVIDDRLPVNEAG
                     QLVFVSSTYKNLFWGALLEKAYAKLSGSYEDLQSGQVSEALVDFTGGVTMTINLAEAH
                     GNLWDILIEATYNRTLIGCQTHSGEKILENGLVEGHAYTLTGIRKVTCKHRPEYLVKL
                     RNPWGKVEWKGDWSDSSSKWELLSPKEKILLLRKDNDGEFWMTLQDFKTHFVLLVICK
                     LTPGLLSQEAAQKWTYTMREGRWEKRSTAGGQRQLLQDTFWKNPQFLLSVWRPEEGRR
                     SLRPCSVLVSLLQKPRHRCRKRKPLLAIGFYLYRMNKYHDDQRRLPPEFFQRNTPLSQ
                     PDRFLKEKEVSQELCLEPGTYLIVPCILEAHQKSEFVLRVFSRKHIFYEIGSNSGVVF
                     SKEIEDQNERQDEFFTKFFEKHPEINAVQLQNLLNQMTWSSLGSRQPFFSLEACQGIL
                     ALLDLNASGTMSIQEFRDLWKQLKLSQKVFHKQDRGSGYLNWEQLHAAMREAGIMLSD
                     DVCQLMLIRYGGPRLQMDFVSFIHLMLRVENMEDVFQNLTQDGKGIYLQKPEWMMMAL
                     YS"
     exon            338..407
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            408..526
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            527..663
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            664..838
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            839..901
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            902..987
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1062
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1226
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            1227..1390
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1399
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1605
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            1606..1642
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            1643..1699
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            1700..1757
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            1758..1822
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            1823..1891
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            1892..1967
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            1968..2084
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            2085..2140
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     exon            2141..3792
                     /gene="CAPN14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3764..3769
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPN14"
                     /note="hexamer: AATAAA"
     polyA_site      3792
                     /gene="CAPN14"
                     /note="major polyA site"
ORIGIN      
        1 ctgactgcac cgggattaga gcttgcccag gcgcttaaag aagcaaaatc tcctgtgcag
       61 gagcagcaga gactcctcag gaagactcac tggactgtac ccaccacctg ccatgtctct
      121 gtggccacct ttccgatgca gatggaagct ggcgccaagg tactctagga gggcgtctcc
      181 acagcaaccc caacaggact ttgaggccct gctggcagag tgcctgagga atggctgcct
      241 ctttgaagac accagcttcc cggccaccct gagctccatc ggcagtggct ccctgctgca
      301 gaagctgcca ccccgcctgc agtggaagag gcccccggag ctgcacagca atccccagtt
      361 ttattttgcc aaggccaaaa ggctggatct gtgccagggg atagtaggag actgctggtt
      421 cttggctgct ttgcaagctc tggccttgca ccaggacatc ctgagccggg ttgttcccct
      481 gaatcagagt ttcactgaga agtatgctgg catcttccgg ttctggttct ggcactatgg
      541 gaactgggtt cctgtggtga tcgatgaccg tctgcctgtg aatgaggctg gccagctggt
      601 ctttgtctcc tccacctata agaacttgtt ctggggagca cttctggaaa aggcctatgc
      661 caagctctct ggttcctatg aagacttgca gtcaggacag gtgtctgaag cccttgtaga
      721 cttcactgga ggggtgacaa tgaccatcaa cctggcagaa gcccatggca acctctggga
      781 catcctcatc gaagccacct acaacagaac cctcattggc tgccagaccc actcagggga
      841 gaagattctg gagaatgggc tggtggaagg ccatgcctat actctcacag gaatcaggaa
      901 ggtgacctgc aaacatagac ctgaatatct cgtcaagcta cggaacccct ggggaaaggt
      961 ggaatggaaa ggagactgga gtgacagttc aagtaaatgg gagctgctga gccccaagga
     1021 gaagattctg cttctgagga aagacaatga cggagaattc tggatgacgc tgcaggactt
     1081 taaaacacat ttcgtgctcc tggttatctg taaactgacc ccaggcctgt tgagccagga
     1141 ggcggcccag aagtggacgt acaccatgcg ggaggggaga tgggagaagc ggagcacagc
     1201 tggtggccag aggcagttgc tgcaggacac attttggaag aacccgcagt tcctgctgtc
     1261 tgtctggagg cccgaggagg gcaggagatc cctgaggccc tgcagcgtgc tggtgtccct
     1321 gctccagaag cccaggcaca ggtgccgcaa gcggaagcct ctcctcgcca ttggcttcta
     1381 cctgtatagg atgaacaagt accatgatga ccagaggaga ctgccccctg agttcttcca
     1441 gagaaacact cctctgagcc agcctgatag gtttctcaag gagaaagaag tgagtcagga
     1501 gctgtgtctg gaaccaggga cgtacctcat cgtgccctgc atattggagg cccaccagaa
     1561 gtcagagttc gtcctcaggg tcttctccag gaagcacatc ttttatgaaa ttggcagcaa
     1621 ttctggtgtc gtcttctcaa aggagataga agaccaaaat gaaaggcagg atgaattctt
     1681 caccaaattc tttgaaaagc atccagagat taatgcagtt caacttcaga acctcctgaa
     1741 ccagatgacc tggtcaagtc tggggagcag acagcccttc tttagcctgg aagcctgcca
     1801 ggggatcctg gccttactgg accttaatgc atcaggtact atgagcatcc aggaattcag
     1861 ggacctgtgg aagcagctga agctctctca gaaggttttc cacaagcaag accgtgggtc
     1921 aggatacctg aactgggagc agctgcacgc tgccatgagg gaggcaggaa tcatgctcag
     1981 tgatgacgtc tgtcagctga tgctcatccg ctacggcggc ccccgcctcc agatggactt
     2041 tgtcagtttc atccacttga tgctgcgtgt agagaacatg gaggatgtct tccaaaactt
     2101 aacccaagat ggcaaaggga tatacctcca gaagccagag tggatgatga tggcactgta
     2161 ctcctgagaa ggctgagtct cacctgccct cactgaagac tctgcatgtg gcccaagagc
     2221 agcctttggc tgagaccaac ccatgcccac cctacttact gatcttcagg acagcctcac
     2281 tagccgtcac cttctcagct gggaaggttt ctcttctgca gccctccccg tgcatggcca
     2341 gcatgcagaa agggaaggga ggaagtaaag attacatcag atttgtaaaa gctagccatc
     2401 cttccctgag gccacaacct tgtcacaagc ggagatgtta cctgacatgg cctaagcatt
     2461 ctgactccag agctggtgtg gttagcctcc atacaacact gcctctgtgg ctgcaaactc
     2521 aagtgacttt agacatgcca catgttctca catggtgggg taatcatcta ggttttaagg
     2581 tctgaaatgg gaatgatata tccttagaca tttagtccca gcatctgcaa attgatagag
     2641 acataggcta agtttcagct gtttggggat ggggtcaggg atatagtggg ctttcagaaa
     2701 cacagacagt aagagaattg gcagagtcca ggtggggtgg gctggctctg gcatctgagg
     2761 tcatggggta gtcttcttct gacaatatct ccgtatgatt ggatctgggg caacctagta
     2821 gatttaaaac acctgagttc tcaaagggct tcctgcttgt gacaggtgtg tctatttgct
     2881 tgatatatag actatcagat ccatttcaaa tctgtccaga aattctctgt ctatctactt
     2941 caaaggacaa aaacaaaccc atgctaaatt atagagtcaa tcagtgggtg gttggtatat
     3001 ctgatttttt gaactaccat gaaacacctt gtttatgtca tccctctcaa ccaagaatac
     3061 aggtgcaaaa ccagaacaat ggcctttttc caaagtctat gcaatttatt cataagttag
     3121 cacctcagag ccatttatta ctacaggttg agcatcccaa atctgaaaac cccaaatctg
     3181 aaatactcca aaatctaaaa tttctgagag tagacatgaa actcaaagga aataggggca
     3241 ttttggattt tgaatttttg ggtttgaggt gttcaactga caagtctata atgcagatat
     3301 cctgaaatct gaaacacttc tggtcccaag cattttagtt aagagatagt caacctgtat
     3361 tctatttaat cttaatttac aaacaattct aacaaacatg gctgtttgat ttccaactcc
     3421 atagcagact caggaaggaa gctgaatgaa gagataaaag tgtgtccatt ggcagaggac
     3481 taaaggagat ttgagcacct gtcagatggg tactgtacca gaagaaagga gcactttgaa
     3541 agcgtagctt atggggtagg aaagtatttt atttaggaaa aaaaaccctt catttattcc
     3601 aaatgataaa atgtaaaatg ggtttccata aagtgccaga tacatgagat gttgttgatt
     3661 ttataaatga tgatcatgta tttacagcct tttacagttt tttatatcca ttgacttatt
     3721 tgtgtctttg tctttaaaat ctgccattgc aaatagctgt tttaataaac caattttgcc
     3781 ttggcccctg aa
//
