LOCUS       NM_000223               1880 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens keratin 12 (KRT12), mRNA.
ACCESSION   NM_000223
VERSION     NM_000223.4
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 1880)
  AUTHORS   Nishino,T., Kobayashi,A., Mori,N., Masaki,T., Yokogawa,H.,
            Fujiki,K., Yanagawa,A., Murakami,A. and Sugiyama,K.
  TITLE     In vivo histology and p.L132V mutation in KRT12 gene in Japanese
            patients with Meesmann corneal dystrophy
  JOURNAL   Jpn J Ophthalmol 63 (1), 46-55 (2019)
   PUBMED   30535821
  REMARK    GeneRIF: We identified a heterozygous genetic mutation (c.394 C>G,
            p.L132V) in the KRT12 gene in six Japanese patients with inherited
            Meesmann corneal dystrophy. This is the first study to confirm this
            genetic mutation in Japanese Meesmann corneal dystrophy patients.
            This mutation has been independently reported in an American
            Meesmann corneal dystrophy patient, confirming its pathogenicity.
REFERENCE   2  (bases 1 to 1880)
  AUTHORS   Latta,L., Viestenz,A., Stachon,T., Colanesi,S., Szentmary,N.,
            Seitz,B. and Kasmann-Kellner,B.
  TITLE     Human aniridia limbal epithelial cells lack expression of keratins
            K3 and K12
  JOURNAL   Exp Eye Res 167, 100-109 (2018)
   PUBMED   29162348
  REMARK    GeneRIF: RT-PCR showed that K3 and K12 transcripts were absent from
            patient cells, but present in healthy control preparations.
REFERENCE   3  (bases 1 to 1880)
  AUTHORS   Du,X., Chen,P. and Sun,D.
  TITLE     Mutation analysis of TGFBI and KRT12 in a case of concomitant
            keratoconus and granular corneal dystrophy
  JOURNAL   Graefes Arch Clin Exp Ophthalmol 255 (9), 1779-1786 (2017)
   PUBMED   28567551
  REMARK    GeneRIF: KC can co-exist with GCD. The missense mutation (c.370G >
            A) in the TGFBI gene and insert mutation (c.1456-1457ins GAT) in
            the KRT12 gene were identified in a 23-year-old male patient with
            concurrent KC and GCD.
REFERENCE   4  (bases 1 to 1880)
  AUTHORS   Allen,E.H., Courtney,D.G., Atkinson,S.D., Moore,J.E., Mairs,L.,
            Poulsen,E.T., Schiroli,D., Maurizi,E., Cole,C., Hickerson,R.P.,
            James,J., Murgatroyd,H., Smith,F.J., MacEwen,C., Enghild,J.J.,
            Nesbit,M.A., Leslie Pedrioli,D.M., McLean,W.H. and Moore,C.B.
  TITLE     Keratin 12 missense mutation induces the unfolded protein response
            and apoptosis in Meesmann epithelial corneal dystrophy
  JOURNAL   Hum Mol Genet 25 (6), 1176-1191 (2016)
   PUBMED   26758872
REFERENCE   5  (bases 1 to 1880)
  AUTHORS   Sasamoto,Y., Hayashi,R., Park,S.J., Saito-Adachi,M., Suzuki,Y.,
            Kawasaki,S., Quantock,A.J., Nakai,K., Tsujikawa,M. and Nishida,K.
  TITLE     PAX6 Isoforms, along with Reprogramming Factors, Differentially
            Regulate the Induction of Cornea-specific Genes
  JOURNAL   Sci Rep 6, 20807 (2016)
   PUBMED   26899008
  REMARK    GeneRIF: we show that the two PAX6 isoforms differentially and
            cooperatively regulate the expression of genes specific to the
            structure and functions of the corneal epithelium, particularly
            keratin 3 (KRT3) and keratin 12 (KRT12). PAX6 isoform-a induced
            KRT3 expression by targeting its upstream region. KLF4 enhanced
            this induction. A combination of PAX6 isoform-b, KLF4, and OCT4
            induced KRT12 expression
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1880)
  AUTHORS   Corden,L.D., Swensson,O., Swensson,B., Rochels,R., Wannke,B.,
            Thiel,H.J. and McLean,W.H.
  TITLE     A novel keratin 12 mutation in a German kindred with Meesmann's
            corneal dystrophy
  JOURNAL   Br J Ophthalmol 84 (5), 527-530 (2000)
   PUBMED   10781519
REFERENCE   7  (bases 1 to 1880)
  AUTHORS   Corden,L.D., Swensson,O., Swensson,B., Smith,F.J., Rochels,R.,
            Uitto,J. and McLEAN,W.H.
  TITLE     Molecular genetics of Meesmann's corneal dystrophy: ancestral and
            novel mutations in keratin 12 (K12) and complete sequence of the
            human KRT12 gene
  JOURNAL   Exp Eye Res 70 (1), 41-49 (2000)
   PUBMED   10644419
REFERENCE   8  (bases 1 to 1880)
  AUTHORS   Nishida,K., Honma,Y., Dota,A., Kawasaki,S., Adachi,W., Nakamura,T.,
            Quantock,A.J., Hosotani,H., Yamamoto,S., Okada,M., Shimomura,Y. and
            Kinoshita,S.
  TITLE     Isolation and chromosomal localization of a cornea-specific human
            keratin 12 gene and detection of four mutations in Meesmann corneal
            epithelial dystrophy
  JOURNAL   Am J Hum Genet 61 (6), 1268-1275 (1997)
   PUBMED   9399908
REFERENCE   9  (bases 1 to 1880)
  AUTHORS   Irvine,A.D., Corden,L.D., Swensson,O., Swensson,B., Moore,J.E.,
            Frazer,D.G., Smith,F.J., Knowlton,R.G., Christophers,E.,
            Rochels,R., Uitto,J. and McLean,W.H.
  TITLE     Mutations in cornea-specific keratin K3 or K12 genes cause
            Meesmann's corneal dystrophy
  JOURNAL   Nat Genet 16 (2), 184-187 (1997)
   PUBMED   9171831
REFERENCE   10 (bases 1 to 1880)
  AUTHORS   Nishida,K., Adachi,W., Shimizu-Matsumoto,A., Kinoshita,S.,
            Mizuno,K., Matsubara,K. and Okubo,K.
  TITLE     A gene expression profile of human corneal epithelium and the
            isolation of human keratin 12 cDNA
  JOURNAL   Invest Ophthalmol Vis Sci 37 (9), 1800-1809 (1996)
   PUBMED   8759347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313747.1, D78367.1 and
            CV573989.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 9, 2019 this sequence version replaced NM_000223.3.
            
            Summary: KRT12 encodes the type I intermediate filament chain
            keratin 12, expressed in corneal epithelia. Mutations in this gene
            lead to Meesmann corneal dystrophy. [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 :: D78367.1, AK313747.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000251643.5/ ENSP00000251643.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AK313747.1         2-14
            14-1763             D78367.1           1-1750
            1764-1880           CV573989.1         395-511
FEATURES             Location/Qualifiers
     source          1..1880
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1880
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="keratin 12"
                     /db_xref="GeneID:3859"
                     /db_xref="HGNC:HGNC:6414"
                     /db_xref="MIM:601687"
     exon            1..604
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..1522
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="CK-12; cytokeratin-12; keratin 12, type I"
                     /codon_start=1
                     /product="keratin, type I cytoskeletal 12"
                     /protein_id="NP_000214.1"
                     /db_xref="CCDS:CCDS11378.1"
                     /db_xref="GeneID:3859"
                     /db_xref="HGNC:HGNC:6414"
                     /db_xref="MIM:601687"
                     /translation="MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRGMSASSVGSGYGG
                     SAFGFGASCGGGFSAASMFGSSSGFGGGSGSSMAGGLGAGYGRALGGGSFGGLGMGFG
                     GSPGGGSLGILSGNDGGLLSGSEKETMQNLNDRLASYLDKVRALEEANTELENKIREW
                     YETRGTGTADASQSDYSKYYPLIEDLRNKIISASIGNAQLLLQIDNARLAAEDFRMKY
                     ENELALRQGVEADINGLRRVLDELTLTRTDLEMQIESLNEELAYMKKNHEDELQSFRV
                     GGPGEVSVEMDAAPGVDLTRLLNDMRAQYETIAEQNRKDAEAWFIEKSGELRKEISTN
                     TEQLQSSKSEVTDLRRAFQNLEIELQSQLAMKKSLEDSLAEAEGDYCAQLSQVQQLIS
                     NLEAQLLQVRADAERQNVDHQRLLNVKARLELEIETYRRLLDGEAQGDGLEESLFVTD
                     SKSQAQSTDSSKDPTKTRKIKTVVQEMVNGEVVSSQVQEIEELM"
     exon            605..687
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /inference="alignment:Splign:2.1.0"
     exon            688..844
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /inference="alignment:Splign:2.1.0"
     exon            845..1006
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1132
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1133..1353
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1424
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..1880
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1862..1867
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="hexamer: AATAAA"
     polyA_site      1880
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="major polyA site"
ORIGIN      
        1 caacttcctc tccagttgtg gccaccttcc ccaggccatg gatctctcca acaacaccat
       61 gtcactctca gtgcgcaccc ccggactgtc ccggcggctc tcctcgcaga gtgtgatagg
      121 cagacccagg ggcatgtctg cttccagtgt tggaagtggt tatgggggaa gtgcctttgg
      181 ctttggagcc agctgtgggg gaggcttttc tgctgcttcc atgtttggtt ctagttccgg
      241 ctttgggggt ggctccggaa gttccatggc aggaggactg ggtgctggtt atgggagagc
      301 cctgggtgga ggtagctttg gagggctggg gatgggattt gggggcagcc caggaggtgg
      361 ctctctaggt attctctcgg gcaatgatgg aggccttctt tctggatcag aaaaagaaac
      421 tatgcaaaat cttaatgata gattagcttc ctacctggat aaggtgcgag ctctagaaga
      481 ggctaatact gagctagaaa ataaaattcg agaatggtat gaaacacgag gaactgggac
      541 tgcagatgct tcacagagcg attacagcaa atattatcca ctgattgaag acctcaggaa
      601 taagatcatt tcagccagca ttggaaatgc ccagctcctc ttgcagattg acaatgcgag
      661 actagctgct gaggacttca ggatgaagta tgagaatgaa ctggccctgc gccagggcgt
      721 agaggccgac atcaatggcc tgcgccgggt gctggacgag ctgaccctga ccaggaccga
      781 cctggagatg cagatcgaga gcctgaacga ggagctggcc tacatgaaga agaaccacga
      841 ggatgagctc caaagcttcc gggtgggcgg cccaggcgag gtcagcgtag aaatggacgc
      901 tgcccccgga gtggacctca ccaggctcct caatgatatg cgggcgcagt atgaaaccat
      961 cgctgagcag aatcggaagg acgctgaagc ctggttcatt gaaaagagcg gggagctccg
     1021 taaggagatt agcaccaaca ccgagcagct tcagtccagc aagagcgagg tcaccgacct
     1081 gcgtcgcgcc tttcagaacc tggagatcga gctacagtcc cagctcgcca tgaagaaatc
     1141 cctggaggac tccttggccg aagccgaggg cgattactgc gcgcagctgt cccaggtgca
     1201 gcagctcatc agcaacctgg aggcacagct gctccaggtg cgcgcggacg cagagcgcca
     1261 gaacgtggac caccagcggc tgctgaatgt caaggcccgc ctggagctgg agattgagac
     1321 ctaccgccgc ctgctggacg gggaggccca aggtgatggt ttggaggaaa gtttatttgt
     1381 gacagactcc aaatcacaag cacagtcaac tgattcctct aaagacccaa ccaaaacccg
     1441 aaaaatcaag acagttgtgc aggagatggt gaatggtgag gtggtctcat ctcaagttca
     1501 ggaaattgaa gaactaatgt aaaatttcac aagatctgcc ccatgattgg ttccttagga
     1561 acaagaaatt tacaagtaga aattattcct ttcagagtaa catgctgtat tacttcaatc
     1621 cctatttttg tctgttccat tttctttgga ttccctattc acattgaatc ctttttgccc
     1681 ttctgaaaca atattcagtc acaagtcatt ttggtcatgt tggtctttgt aacaaatcaa
     1741 aattacctta tatccttctg gacctggagt agtcttttaa cgaactttct tctggtaacc
     1801 cggaatattt tttaatcata gagctttaat caagtagtat tgttttaata gagttaattg
     1861 taataaaaga tgaatggtaa
//
