LOCUS       NP_000517                472 aa            linear   PRI 27-APR-2025
DEFINITION  keratin, type I cytoskeletal 14 [Homo sapiens].
ACCESSION   NP_000517
VERSION     NP_000517.3
DBSOURCE    REFSEQ: accession 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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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 (residues 1 to 472)
  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 NP_000517.2.
            
            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##
FEATURES             Location/Qualifiers
     source          1..472
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     Protein         1..472
                     /product="keratin, type I cytoskeletal 14"
                     /note="cytokeratin 14; keratin 14, type I"
                     /calculated_mol_wt=51431
     Region          1..114
                     /region_name="Head"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4)"
     Region          114..425
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:459643"
     Region          115..150
                     /region_name="Coil 1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4)"
     Region          151..168
                     /region_name="Linker 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4)"
     Region          169..260
                     /region_name="Coil 1B"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4)"
     Region          261..283
                     /region_name="Linker 12"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4)"
     Region          284..422
                     /region_name="Coil 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4)"
     Site            364
                     /site_type="other"
                     /note="Stutter; propagated from UniProtKB/Swiss-Prot
                     (P02533.4)"
     Region          423..472
                     /region_name="Tail"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4)"
     Region          425..472
                     /region_name="Interaction with Type I keratins and keratin
                     filaments"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4)"
     Region          426..472
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4)"
     Site            435
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61781; propagated from
                     UniProtKB/Swiss-Prot (P02533.4)"
     CDS             1..472
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /coded_by="NM_000526.5:62..1480"
                     /db_xref="CCDS:CCDS11400.1"
                     /db_xref="GeneID:3861"
                     /db_xref="HGNC:HGNC:6416"
                     /db_xref="MIM:148066"
ORIGIN      
        1 mttcsrqfts sssmkgscgi gggigggssr issvlaggsc rapstygggl svsssrfssg
       61 gacglgggyg ggfssssssf gsgfgggygg glgaglgggf gggfaggdgl lvgsekvtmq
      121 nlndrlasyl dkvraleean adlevkirdw yqrqrpaeik dyspyfktie dlrnkiltat
      181 vdnanvllqi dnarlaaddf rtkyetelnl rmsveading lrrvldeltl aradlemqie
      241 slkeelaylk knheeemnal rgqvggdvnv emdaapgvdl srilnemrdq yekmaeknrk
      301 daeewfftkt eelnrevatn selvqsgkse iselrrtmqn leielqsqls mkaslensle
      361 etkgrycmql aqiqemigsv eeqlaqlrce meqqnqeyki lldvktrleq eiatyrrlle
      421 gedahlsssq fssgsqssrd vtsssrqirt kvmdvhdgkv vstheqvlrt kn
//
