LOCUS       NM_000526               1636 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens keratin 14 (KRT14), mRNA.
ACCESSION   NM_000526
VERSION     NM_000526.5
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 1636)
  AUTHORS   Ali,F.M., Zhou,J., Wang,M., Wang,Q., Sun,L., Mshenga,M.M. and Lu,H.
  TITLE     Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN
            SEV KRT14 variants with review of literature
  JOURNAL   BMC Pediatr 24 (1), 242 (2024)
   PUBMED   38580989
  REMARK    GeneRIF: Epidermolysis Bullosa: Two rare case reports of COL7A1 and
            EBS-GEN SEV KRT14 variants with review of literature.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1636)
  AUTHORS   Kosykh,A.V., Ryumina,I.I., Botkina,A.S., Evtushenko,N.A.,
            Zhigmitova,E.B., Martynova,A.A., Gurskaya,N.G. and Rebrikov,D.V.
  TITLE     EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
  JOURNAL   Int J Mol Sci 25 (5), 2989 (2024)
   PUBMED   38474236
  REMARK    GeneRIF: EBS in Children with De Novo Pathogenic Variants
            Disturbing Krt14.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1636)
  AUTHORS   Schweizer,J., Bowden,P.E., Coulombe,P.A., Langbein,L., Lane,E.B.,
            Magin,T.M., Maltais,L., Omary,M.B., Parry,D.A., Rogers,M.A. and
            Wright,M.W.
  TITLE     New consensus nomenclature for mammalian keratins
  JOURNAL   J Cell Biol 174 (2), 169-174 (2006)
   PUBMED   16831889
REFERENCE   4  (bases 1 to 1636)
  AUTHORS   So,J.Y. and Teng,J.
  TITLE     Epidermolysis Bullosa Simplex
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301543
REFERENCE   5  (bases 1 to 1636)
  AUTHORS   Coulombe,P.A., Hutton,M.E., Letai,A., Hebert,A., Paller,A.S. and
            Fuchs,E.
  TITLE     Point mutations in human keratin 14 genes of epidermolysis bullosa
            simplex patients: genetic and functional analyses
  JOURNAL   Cell 66 (6), 1301-1311 (1991)
   PUBMED   1717157
REFERENCE   6  (bases 1 to 1636)
  AUTHORS   Rosenberg,M., Fuchs,E., Le Beau,M.M., Eddy,R.L. and Shows,T.B.
  TITLE     Three epidermal and one simple epithelial type II keratin genes map
            to human chromosome 12
  JOURNAL   Cytogenet Cell Genet 57 (1), 33-38 (1991)
   PUBMED   1713141
REFERENCE   7  (bases 1 to 1636)
  AUTHORS   Rosenberg,M., RayChaudhury,A., Shows,T.B., Le Beau,M.M. and
            Fuchs,E.
  TITLE     A group of type I keratin genes on human chromosome 17:
            characterization and expression
  JOURNAL   Mol Cell Biol 8 (2), 722-736 (1988)
   PUBMED   2451124
REFERENCE   8  (bases 1 to 1636)
  AUTHORS   Marchuk,D., McCrohon,S. and Fuchs,E.
  TITLE     Complete sequence of a gene encoding a human type I keratin:
            sequences homologous to enhancer elements in the regulatory region
            of the gene
  JOURNAL   Proc Natl Acad Sci U S A 82 (6), 1609-1613 (1985)
   PUBMED   2580298
REFERENCE   9  (bases 1 to 1636)
  AUTHORS   Marchuk,D., McCrohon,S. and Fuchs,E.
  TITLE     Remarkable conservation of structure among intermediate filament
            genes
  JOURNAL   Cell 39 (3 Pt 2), 491-498 (1984)
   PUBMED   6210150
REFERENCE   10 (bases 1 to 1636)
  AUTHORS   Hanukoglu,I. and Fuchs,E.
  TITLE     The cDNA sequence of a human epidermal keratin: divergence of
            sequence but conservation of structure among intermediate filament
            proteins
  JOURNAL   Cell 31 (1), 243-252 (1982)
   PUBMED   6186381
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Michael Rogers. The reference sequence was
            derived from AC019349.28.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000526.4.
            
            Summary: This gene encodes a member of the keratin family, the most
            diverse group of intermediate filaments. This gene product, a type
            I keratin, is usually found as a heterotetramer with two keratin 5
            molecules, a type II keratin. Together they form the cytoskeleton
            of epithelial cells. Mutations in the genes for these keratins are
            associated with epidermolysis bullosa simplex. At least one
            pseudogene has been identified at 17p12-p11. [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 :: BC094830.1, BC019097.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000167586.7/ ENSP00000167586.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-586               AC019349.28        11240-11825
            587-669             AC019349.28        13078-13160
            670-826             AC019349.28        13722-13878
            827-988             AC019349.28        14214-14375
            989-1114            AC019349.28        14459-14584
            1115-1335           AC019349.28        14680-14900
            1336-1382           AC019349.28        14995-15041
            1383-1636           AC019349.28        15603-15856
FEATURES             Location/Qualifiers
     source          1..1636
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1636
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="keratin 14"
                     /db_xref="GeneID:3861"
                     /db_xref="HGNC:HGNC:6416"
                     /db_xref="MIM:148066"
     exon            1..586
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..1480
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="cytokeratin 14; keratin 14, type I"
                     /codon_start=1
                     /product="keratin, type I cytoskeletal 14"
                     /protein_id="NP_000517.3"
                     /db_xref="CCDS:CCDS11400.1"
                     /db_xref="GeneID:3861"
                     /db_xref="HGNC:HGNC:6416"
                     /db_xref="MIM:148066"
                     /translation="MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPS
                     TYGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSFGSGFGGGYGGGLGAGLGGGFGG
                     GFAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIK
                     DYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADI
                     NGLRRVLDELTLARADLEMQIESLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAP
                     GVDLSRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATNSELVQSGKSEISEL
                     RRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEME
                     QQNQEYKILLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRT
                     KVMDVHDGKVVSTHEQVLRTKN"
     exon            587..669
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /inference="alignment:Splign:2.1.0"
     exon            670..826
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /inference="alignment:Splign:2.1.0"
     exon            827..988
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1114
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..1335
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1382
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /inference="alignment:Splign:2.1.0"
     exon            1383..1636
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1608..1613
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="hexamer: AATACA"
     polyA_site      1636
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="major polyA site"
ORIGIN      
        1 acccgagcac cttctcttca ctcagccaac tgctcgctcg ctcacctccc tcctctgcac
       61 catgaccacc tgcagccgcc agttcacctc ctccagctcc atgaagggct cctgcggcat
      121 cgggggcggc atcgggggcg gctccagccg catctcctcc gtcctggccg gagggtcctg
      181 ccgcgccccc agcacctacg ggggcggcct gtctgtctca tcctcccgct tctcctctgg
      241 gggagcctgc gggctggggg gcggctatgg cggtggcttc agcagcagca gcagcagctt
      301 tggtagtggc tttgggggag gatatggtgg tggccttggt gctggcttgg gtggtggctt
      361 tggtggtggc tttgctggtg gtgatgggct tctggtgggc agtgagaagg tgaccatgca
      421 gaacctcaat gaccgcctgg cctcctacct ggacaaggtg cgtgctctgg aggaggccaa
      481 cgccgacctg gaagtgaaga tccgtgactg gtaccagagg cagcggcctg ctgagatcaa
      541 agactacagt ccctacttca agaccattga ggacctgagg aacaagattc tcacagccac
      601 agtggacaat gccaatgtcc ttctgcagat tgacaatgcc cgtctggccg cggatgactt
      661 ccgcaccaag tatgagacag agttgaacct gcgcatgagt gtggaagccg acatcaatgg
      721 cctgcgcagg gtgctggacg aactgaccct ggccagagct gacctggaga tgcagattga
      781 gagcctgaag gaggagctgg cctacctgaa gaagaaccac gaggaggaga tgaatgccct
      841 gagaggccag gtgggtggag atgtcaatgt ggagatggac gctgcacctg gcgtggacct
      901 gagccgcatt ctgaacgaga tgcgtgacca gtatgagaag atggcagaga agaaccgcaa
      961 ggatgccgag gaatggttct tcaccaagac agaggagctg aaccgcgagg tggccaccaa
     1021 cagcgagctg gtgcagagcg gcaagagcga gatctcggag ctccggcgca ccatgcagaa
     1081 cctggagatt gagctgcagt cccagctcag catgaaagca tccctggaga acagcctgga
     1141 ggagaccaaa ggtcgctact gcatgcagct ggcccagatc caggagatga ttggcagcgt
     1201 ggaggagcag ctggcccagc tccgctgcga gatggagcag cagaaccagg agtacaagat
     1261 cctgctggac gtgaagacgc ggctggagca ggagatcgcc acctaccgcc gcctgctgga
     1321 gggcgaggac gcccacctct cctcctccca gttctcctct ggatcgcagt catccagaga
     1381 tgtgacctcc tccagccgcc aaatccgcac caaggtcatg gatgtgcacg atggcaaggt
     1441 ggtgtccacc cacgagcagg tccttcgcac caagaactga ggctgcccag ccccgctcag
     1501 gcctaggagg ccccccgtgt ggacacagat cccactggaa gatcccctct cctgcccaag
     1561 cacttcacag ctggaccctg cttcaccctc accccctcct ggcaatcaat acagcttcat
     1621 tatctgagtt gcataa
//
