LOCUS       NM_000226               2296 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens keratin 9 (KRT9), mRNA.
ACCESSION   NM_000226
VERSION     NM_000226.4
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 2296)
  AUTHORS   Woods,R.S.R., Callanan,D., Jawad,H., Molony,P., Werner,R.,
            Heffron,C., Feeley,L. and Sheahan,P.
  TITLE     Cytokeratin 7 and 19 expression in oropharyngeal and oral squamous
            cell carcinoma
  JOURNAL   Eur Arch Otorhinolaryngol 279 (3), 1435-1443 (2022)
   PUBMED   34046748
  REMARK    GeneRIF: Cytokeratin 7 and 19 expression in oropharyngeal and oral
            squamous cell carcinoma.
REFERENCE   2  (bases 1 to 2296)
  AUTHORS   Liu,X., Qiu,C., He,R., Zhang,Y. and Zhao,Y.
  TITLE     Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic
            palmoplantar keratoderma, cytokeratin analysis, and literature
            review
  JOURNAL   Mol Genet Genomic Med 7 (11), e977 (2019)
   PUBMED   31525823
  REMARK    GeneRIF: KRT9 L164P mutation is associated with epidermolytic
            palmoplantar keratoderma.
            Review article
REFERENCE   3  (bases 1 to 2296)
  AUTHORS   Zhou,R., Wang,G., Kim,D., Kim,S., Islam,N., Chen,R., Wang,Z.,
            Li,A., McCarthy,E.F., Li,L., Hu,Z. and Garza,L.A.
  TITLE     dsRNA Sensing Induces Loss of Cell Identity
  JOURNAL   J Invest Dermatol 139 (1), 91-99 (2019)
   PUBMED   30120933
  REMARK    GeneRIF: Exogenous dsRNA inhibits KRT9 expression in early passage
            volar keratinocytes or in vivo footpads of wild-type mice. Loss of
            DDX58 in passaged volar keratinocytes rescues KRT9 and inhibits
            KRT7 expression.
REFERENCE   4  (bases 1 to 2296)
  AUTHORS   Andolino,C., Hess,C., Prince,T., Williams,H. and Chernin,M.
  TITLE     Drug-induced keratin 9 interaction with Hsp70 in bladder cancer
            cells
  JOURNAL   Cell Stress Chaperones 23 (5), 1137-1142 (2018)
   PUBMED   29802537
  REMARK    GeneRIF: keratin 9 is an Hsp70 client protein and is expressed in
            human bladder cancer cells.
REFERENCE   5  (bases 1 to 2296)
  AUTHORS   Xiao,H., Guo,Y., Yi,J., Xia,H., Xu,H., Yuan,L., Hu,P., Yang,Z.,
            He,Z., Lu,H. and Deng,H.
  TITLE     Identification of a Novel Keratin 9 Missense Mutation in a Chinese
            Family with Epidermolytic Palmoplantar Keratoderma
  JOURNAL   Cell Physiol Biochem 46 (5), 1919-1929 (2018)
   PUBMED   29719290
  REMARK    GeneRIF: A novel heterozygous c.1369C>T transition (p.Leu457Phe) in
            exon 6 of the KRT9 gene was identified in four patients in a
            Chinese Family with Epidermolytic Palmoplantar Keratoderma.
REFERENCE   6  (bases 1 to 2296)
  AUTHORS   Torchard,D., Blanchet-Bardon,C., Serova,O., Langbein,L., Narod,S.,
            Janin,N., Goguel,A.F., Bernheim,A., Franke,W.W., Lenoir,G.M. et al.
  TITLE     Epidermolytic palmoplantar keratoderma cosegregates with a keratin
            9 mutation in a pedigree with breast and ovarian cancer
  JOURNAL   Nat Genet 6 (1), 106-110 (1994)
   PUBMED   7511021
REFERENCE   7  (bases 1 to 2296)
  AUTHORS   Langbein,L., Heid,H.W., Moll,I. and Franke,W.W.
  TITLE     Molecular characterization of the body site-specific human
            epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and
            tissue specificity of gene expression
  JOURNAL   Differentiation 55 (1), 57-71 (1993)
   PUBMED   7507869
  REMARK    Erratum:[Differentiation. 1994 Jan;55(2):164. doi:
            10.1046/j.1432-0436.1994.5520164.x.. PMID: 7511549]
REFERENCE   8  (bases 1 to 2296)
  AUTHORS   Rogaev,E.I., Rogaeva,E.A., Ginter,E.K., Korovaitseva,G.I.,
            Farrer,L.A., Shlensky,A.B., Pritkov,A.N., Mordovtsev,V.N. and St
            George-Hyslop,P.H.
  TITLE     Identification of the genetic locus for keratosis palmaris et
            plantaris on chromosome 17 near the RARA and keratin type I genes
  JOURNAL   Nat Genet 5 (2), 158-162 (1993)
   PUBMED   7504553
REFERENCE   9  (bases 1 to 2296)
  AUTHORS   Reis,A., Kuster,W., Eckardt,R. and Sperling,K.
  TITLE     Mapping of a gene for epidermolytic palmoplantar keratoderma to the
            region of the acidic keratin gene cluster at 17q12-q21
  JOURNAL   Hum Genet 90 (1-2), 113-116 (1992)
   PUBMED   1385292
REFERENCE   10 (bases 1 to 2296)
  AUTHORS   Rosen,E.M., Meromsky,L., Romero,R., Setter,E. and Goldberg,I.
  TITLE     Human placenta contains an epithelial scatter protein
  JOURNAL   Biochem Biophys Res Commun 168 (3), 1082-1088 (1990)
   PUBMED   2140676
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC019349.28 and Z29074.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000226.3.
            
            Summary: This gene encodes the type I keratin 9, an intermediate
            filament chain expressed only in the terminally differentiated
            epidermis of palms and soles. Mutations in this gene cause
            epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul
            2008].
            
            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.
            
            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 :: S69510.1, Z29074.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147596, SAMEA2163623
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000246662.9/ ENSP00000246662.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AC019349.28        26076-26076
            2-709               AC019349.28        26077-26784
            710-2029            Z29074.1           709-2028
            2030-2291           AC019349.28        32033-32294
            2292-2296           AC019349.28        32295-32299
FEATURES             Location/Qualifiers
     source          1..2296
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..2296
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="keratin 9"
                     /db_xref="GeneID:3857"
                     /db_xref="HGNC:HGNC:6447"
                     /db_xref="MIM:607606"
     exon            1..709
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..1939
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="cytokeratin 9; keratin 9, type I; type I
                     cytoskeletal 9"
                     /codon_start=1
                     /product="keratin, type I cytoskeletal 9"
                     /protein_id="NP_000217.2"
                     /db_xref="CCDS:CCDS32654.1"
                     /db_xref="GeneID:3857"
                     /db_xref="HGNC:HGNC:6447"
                     /db_xref="MIM:607606"
                     /translation="MSCRQFSSSYLSRSGGGGGGGLGSGGSIRSSYSRFSSSGGGGGG
                     GRFSSSSGYGGGSSRVCGRGGGGSFGYSYGGGSGGGFSASSLGGGFGGGSRGFGGASG
                     GGYSSSGGFGGGFGGGSGGGFGGGYGSGFGGFGGFGGGAGGGDGGILTANEKSTMQEL
                     NSRLASYLDKVQALEEANNDLENKIQDWYDKKGPAAIQKNYSPYYNTIDDLKDQIVDL
                     TVGNNKTLLDIDNTRMTLDDFRIKFEMEQNLRQGVDADINGLRQVLDNLTMEKSDLEM
                     QYETLQEELMALKKNHKEEMSQLTGQNSGDVNVEINVAPGKDLTKTLNDMRQEYEQLI
                     AKNRKDIENQYETQITQIEHEVSSSGQEVQSSAKEVTQLRHGVQELEIELQSQLSKKA
                     ALEKSLEDTKNRYCGQLQMIQEQISNLEAQITDVRQEIECQNQEYSLLLSIKMRLEKE
                     IETYHNLLEGGQEDFESSGAGKIGLGGRGGSGGSYGRGSRGGSGGSYGGGGSGGGYGG
                     GSGSRGGSGGSYGGGSGSGGGSGGGYGGGSGGGHSGGSGGGHSGGSGGNYGGGSGSGG
                     GSGGGYGGGSGSRGGSGGSHGGGSGFGGESGGSYGGGEEASGSGGGYGGGSGKSSHS"
     exon            710..792
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /inference="alignment:Splign:2.1.0"
     exon            793..949
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /inference="alignment:Splign:2.1.0"
     exon            950..1111
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1237
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1461
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..1979
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /inference="alignment:Splign:2.1.0"
     exon            1980..2296
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2270..2275
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="hexamer: AATAAA"
     polyA_site      2296
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="major polyA site"
ORIGIN      
        1 accctgcact tgggagccgg tagcactcct atcactgctt ctcaacccgt gagctaccag
       61 ctgtgtcatg agctgcagac agttctcctc gtcctacttg agccgcagcg gcgggggtgg
      121 cgggggcggc ctgggcagcg ggggcagcat aaggtcttcc tacagccgct tcagctcctc
      181 agggggcggt ggaggagggg gccgattcag ctcttctagt ggctatggtg ggggaagctc
      241 tcgtgtctgt gggaggggag gcggtggcag ttttggctac agctacggcg gaggatctgg
      301 gggtggtttt agtgccagta gtttaggcgg tggctttggg ggtggttcca gaggttttgg
      361 tggtgcttct ggaggaggct atagtagttc tgggggtttt ggaggtggct ttggtggtgg
      421 ttctggaggt ggctttggtg gtggctatgg gagtgggttt ggggggtttg ggggctttgg
      481 aggtggtgct ggaggaggtg atggtggtat tctgactgct aatgagaaga gcaccatgca
      541 ggaactcaat tctcggctgg cctcttactt ggataaggtg caggctctag aggaggccaa
      601 caacgacctg gagaataaga tccaggattg gtacgacaag aagggacctg ctgctatcca
      661 gaagaactac tccccttatt ataacactat tgatgatctc aaggaccaga ttgtggacct
      721 gacagtgggc aacaacaaaa ctctcctgga cattgacaac actcgcatga cactggatga
      781 cttcaggata aagtttgaga tggagcaaaa cctgcggcaa ggagtggatg ctgacatcaa
      841 tggcctgcgg caggtgctgg acaatctgac catggagaag tctgacctgg agatgcagta
      901 tgagactctg caggaggagc tgatggccct caagaagaat cataaggagg agatgagtca
      961 gctgactggg cagaacagtg gagatgtcaa tgtggagata aacgttgctc ctggcaaaga
     1021 tctcaccaag accctcaatg acatgcgtca ggagtatgag cagctcattg ctaagaacag
     1081 aaaggacatc gagaatcaat atgagactca gataacccag atcgagcatg aggtatccag
     1141 tagtggtcag gaggtgcagt ccagtgccaa ggaggtgacc cagctccggc acggtgtcca
     1201 ggagttggag attgagctgc agtctcagct cagcaagaaa gcagctctgg agaagagctt
     1261 ggaagacacg aagaaccgct actgtggcca gctgcagatg atccaggagc agatcagtaa
     1321 cttggaggcc cagatcactg acgtccggca agagatcgag tgccagaatc aggaatacag
     1381 ccttctgctc agcattaaga tgcggctgga gaaggaaatc gagacctacc acaacctcct
     1441 tgagggaggc caggaagact ttgaatcctc cggagctgga aaaattggcc ttggaggtcg
     1501 aggaggaagt ggaggcagtt atggaagagg atccagggga ggaagtggag gcagctatgg
     1561 tggaggagga agtggaggtg gctatggtgg aggaagtggg tccaggggag gaagtggagg
     1621 cagctacggt ggaggaagtg gttctggagg aggtagtgga ggtggctatg gtggaggaag
     1681 tggaggtggc catagcggag gaagtggagg tggtcatagt ggaggaagtg ggggcaacta
     1741 tggaggagga agtggctctg gaggaggaag tgggggtggc tatggtggag gaagtgggtc
     1801 caggggagga agtggaggca gccatggtgg aggaagtggt tttggaggtg aaagtggagg
     1861 cagctacgga ggcggtgaag aagcgagtgg aagtggtggc ggctacggag gaggaagcgg
     1921 aaaatcatcc cattcctagt cttcttcctc aaaatctggt gaccaagatg agacaaaagg
     1981 cttcctttcg cgatactaga gcctctgtaa acttctcctg cccagcccca gctgagcatc
     2041 cccagatggg cagactcccg atgaagcctg cttattggat cctgacatca ggaatagctg
     2101 gcaacaagcc cctgtgcccg tttgggactg aactgacttg gcatatgtgc ctctggcttt
     2161 ccattggctt ccaaccctgc ttggctttga tgccttcagg gttggggaga cagacctctt
     2221 tcctctctct ggcctggggt gctctcacac cctgcacgat cttgactata ataaagcttc
     2281 cctactgcaa atcaaa
//
