LOCUS       NM_173086               2309 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens keratin 6C (KRT6C), mRNA.
ACCESSION   NM_173086
VERSION     NM_173086.5
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 2309)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2309)
  AUTHORS   Hu,H.B., Yang,X.P., Zhou,P.X., Yang,X.A. and Yin,B.
  TITLE     High expression of keratin 6C is associated with poor prognosis and
            accelerates cancer proliferation and migration by modulating
            epithelial-mesenchymal transition in lung adenocarcinoma
  JOURNAL   Genes Genomics 42 (2), 179-188 (2020)
   PUBMED   31768767
  REMARK    GeneRIF: KRT6C was highly expressed in lung adenocarcinoma (LUAD)
            patients. The relevance between high expression of KRT6C and poor
            prognosis of LUAD patients was found in this study.
REFERENCE   3  (bases 1 to 2309)
  AUTHORS   Fasci,D., van Ingen,H., Scheltema,R.A. and Heck,A.J.R.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   4  (bases 1 to 2309)
  AUTHORS   Duverger,O., Carlson,J.C., Karacz,C.M., Schwartz,M.E., Cross,M.A.,
            Marazita,M.L., Shaffer,J.R. and Morasso,M.I.
  TITLE     Genetic variants in pachyonychia congenita-associated keratins
            increase susceptibility to tooth decay
  JOURNAL   PLoS Genet 14 (1), e1007168 (2018)
   PUBMED   29357356
  REMARK    GeneRIF: Several missense polymorphisms in KRT6A, KRT6B and KRT6C
            that lead to a higher risk for dental caries.
            Erratum:[PLoS Genet. 2019 Jun 24;15(6):e1008230. doi:
            10.1371/journal.pgen.1008230.. PMID: 31233495]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2309)
  AUTHORS   Wee,J.S., Smith,F.J., Wilson,N.J. and O'Toole,E.A.
  TITLE     Focal PPK secondary to a novel KRT6C mutation (Pachyonychia
            congenita-K6c)
  JOURNAL   J Eur Acad Dermatol Venereol 30 (8), 1415-1416 (2016)
   PUBMED   26301947
  REMARK    GeneRIF: report on a novel mutation of KRT6C and highlight the
            inclusion of focal PPK secondary to KRT16 and KRT6C mutations as a
            milder phenotype within the spectrum of PC
REFERENCE   6  (bases 1 to 2309)
  AUTHORS   Scherer,S.E., Muzny,D.M., Buhay,C.J., Chen,R., Cree,A., Ding,Y.,
            Dugan-Rocha,S., Gill,R., Gunaratne,P., Harris,R.A., Hawes,A.C.,
            Hernandez,J., Hodgson,A.V., Hume,J., Jackson,A., Khan,Z.M.,
            Kovar-Smith,C., Lewis,L.R., Lozado,R.J., Metzker,M.L.,
            Milosavljevic,A., Miner,G.R., Montgomery,K.T., Morgan,M.B.,
            Nazareth,L.V., Scott,G., Sodergren,E., Song,X.Z., Steffen,D.,
            Lovering,R.C., Wheeler,D.A., Worley,K.C., Yuan,Y., Zhang,Z.,
            Adams,C.Q., Ansari-Lari,M.A., Ayele,M., Brown,M.J., Chen,G.,
            Chen,Z., Clerc-Blankenburg,K.P., Davis,C., Delgado,O., Dinh,H.H.,
            Draper,H., Gonzalez-Garay,M.L., Havlak,P., Jackson,L.R.,
            Jacob,L.S., Kelly,S.H., Li,L., Li,Z., Liu,J., Liu,W., Lu,J.,
            Maheshwari,M., Nguyen,B.V., Okwuonu,G.O., Pasternak,S., Perez,L.M.,
            Plopper,F.J., Santibanez,J., Shen,H., Tabor,P.E., Verduzco,D.,
            Waldron,L., Wang,Q., Williams,G.A., Zhang,J., Zhou,J., Allen,C.C.,
            Amin,A.G., Anyalebechi,V., Bailey,M., Barbaria,J.A., Bimage,K.E.,
            Bryant,N.P., Burch,P.E., Burkett,C.E., Burrell,K.L., Calderon,E.,
            Cardenas,V., Carter,K., Casias,K., Cavazos,I., Cavazos,S.R.,
            Ceasar,H., Chacko,J., Chan,S.N., Chavez,D., Christopoulos,C.,
            Chu,J., Cockrell,R., Cox,C.D., Dang,M., Dathorne,S.R., David,R.,
            Davis,C.M., Davy-Carroll,L., Deshazo,D.R., Donlin,J.E., D'Souza,L.,
            Eaves,K.A., Simons,R., Emery-Cohen,A.J., Escotto,M., Flagg,N.,
            Forbes,L.D., Gabisi,A.M., Garza,M., Hamilton,C., Henderson,N.,
            Hernandez,O., Hines,S., Hogues,M.E., Huang,M., Idlebird,D.G.,
            Johnson,R., Jolivet,A., Jones,S., Kagan,R., King,L.M., Leal,B.,
            Lebow,H., Lee,S., LeVan,J.M., Lewis,L.C., London,P.,
            Lorensuhewa,L.M., Loulseged,H., Lovett,D.A., Lucier,A.,
            Lucier,R.L., Ma,J., Madu,R.C., Mapua,P., Martindale,A.D.,
            Martinez,E., Massey,E., Mawhiney,S., Meador,M.G., Mendez,S.,
            Mercado,C., Mercado,I.C., Merritt,C.E., Miner,Z.L., Minja,E.,
            Mitchell,T., Mohabbat,F., Mohabbat,K., Montgomery,B., Moore,N.,
            Morris,S., Munidasa,M., Ngo,R.N., Nguyen,N.B., Nickerson,E.,
            Nwaokelemeh,O.O., Nwokenkwo,S., Obregon,M., Oguh,M., Oragunye,N.,
            Oviedo,R.J., Parish,B.J., Parker,D.N., Parrish,J., Parks,K.L.,
            Paul,H.A., Payton,B.A., Perez,A., Perrin,W., Pickens,A.,
            Primus,E.L., Pu,L.L., Puazo,M., Quiles,M.M., Quiroz,J.B.,
            Rabata,D., Reeves,K., Ruiz,S.J., Shao,H., Sisson,I., Sonaike,T.,
            Sorelle,R.P., Sutton,A.E., Svatek,A.F., Svetz,L.A., Tamerisa,K.S.,
            Taylor,T.R., Teague,B., Thomas,N., Thorn,R.D., Trejos,Z.Y.,
            Trevino,B.K., Ukegbu,O.N., Urban,J.B., Vasquez,L.I., Vera,V.A.,
            Villasana,D.M., Wang,L., Ward-Moore,S., Warren,J.T., Wei,X.,
            White,F., Williamson,A.L., Wleczyk,R., Wooden,H.S., Wooden,S.H.,
            Yen,J., Yoon,L., Yoon,V., Zorrilla,S.E., Nelson,D.,
            Kucherlapati,R., Weinstock,G. and Gibbs,R.A.
  CONSRTM   Baylor College of Medicine Human Genome Sequencing Center Sequence
            Production Team
  TITLE     The finished DNA sequence of human chromosome 12
  JOURNAL   Nature 440 (7082), 346-351 (2006)
   PUBMED   16541075
REFERENCE   7  (bases 1 to 2309)
  AUTHORS   Hesse,M., Magin,T.M. and Weber,K.
  TITLE     Genes for intermediate filament proteins and the draft sequence of
            the human genome: novel keratin genes and a surprisingly high
            number of pseudogenes related to keratin genes 8 and 18
  JOURNAL   J Cell Sci 114 (Pt 14), 2569-2575 (2001)
   PUBMED   11683385
REFERENCE   8  (bases 1 to 2309)
  AUTHORS   Ku,N.O. and Omary,M.B.
  TITLE     Phosphorylation of human keratin 8 in vivo at conserved head domain
            serine 23 and at epidermal growth factor-stimulated tail domain
            serine 431
  JOURNAL   J Biol Chem 272 (11), 7556-7564 (1997)
   PUBMED   9054461
REFERENCE   9  (bases 1 to 2309)
  AUTHORS   Takahashi,K., Paladini,R.D. and Coulombe,P.A.
  TITLE     Cloning and characterization of multiple human genes and cDNAs
            encoding highly related type II keratin 6 isoforms
  JOURNAL   J Biol Chem 270 (31), 18581-18592 (1995)
   PUBMED   7543104
REFERENCE   10 (bases 1 to 2309)
  AUTHORS   Smith,F.J.D., Hansen,C.D., Hull,P.R., Kaspar,R.L., McLean,W.H.I.,
            O'Toole,E. and Sprecher,E.
  TITLE     Pachyonychia Congenita
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301457
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC055736.20 and BC110639.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_173086.4.
            
            Summary: Keratins are intermediate filament proteins responsible
            for the structural integrity of epithelial cells and are subdivided
            into epithelial keratins and hair keratins. The type II keratins
            are clustered in a region of chromosome 12q13. [provided by RefSeq,
            Jul 2009].
            
            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 :: BC110639.1, L42611.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2156670 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252250.7/ ENSP00000252250.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AC055736.20        89985-90004
            21-612              BC110639.1         1-592
            613-823             AC055736.20        91514-91724
            824-2309            BC110639.1         804-2289
FEATURES             Location/Qualifiers
     source          1..2309
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2309
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /note="keratin 6C"
                     /db_xref="GeneID:286887"
                     /db_xref="HGNC:HGNC:20406"
                     /db_xref="MIM:612315"
     exon            1..608
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1763
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /note="keratin 6E; K6C; CK-6C; CK-6E; keratin K6h;
                     cytokeratin-6C; cytokeratin-6E; type-II keratin Kb12;
                     keratin 6C, type II"
                     /codon_start=1
                     /product="keratin, type II cytoskeletal 6C"
                     /protein_id="NP_775109.2"
                     /db_xref="CCDS:CCDS8829.1"
                     /db_xref="GeneID:286887"
                     /db_xref="HGNC:HGNC:20406"
                     /db_xref="MIM:612315"
                     /translation="MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSISVSRSRGS
                     GGLGGACGGAGFGSRSLYGLGGSKRISIGGGSCAISGGYGSRAGGSYGFGGAGSGFGF
                     GGGAGIGFGLGGGAGLAGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPAIQRVR
                     AEEREQIKTLNNKFASFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYI
                     NNLRRQLDSIVGERGRLDSELRNMQDLVEDLKNKYEDEINKRTAAENEFVTLKKDVDA
                     AYMNKVELQAKADTLTDEINFLRALYDAELSQMQTHISDTSVVLSMDNNRNLDLDSII
                     AEVKAQYEEIAQRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEIAEINRMIQRLR
                     SEIDHVKKQCASLQAAIADAEQRGEMALKDAKNKLEGLEDALQKAKQDLARLLKEYQE
                     LMNVKLALDVEIATYRKLLEGEECRLNGEGVGQVNVSVVQSTISSGYGGASGVGSGLG
                     LGGGSSYSYGSGLGIGGGFSSSSGRAIGGGLSSVGGGSSTIKYTTTSSSSRKSYKH"
     exon            609..823
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /inference="alignment:Splign:2.1.0"
     exon            824..884
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /inference="alignment:Splign:2.1.0"
     exon            885..980
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1145
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /inference="alignment:Splign:2.1.0"
     exon            1146..1271
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1492
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1527
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..2309
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2288..2293
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /note="hexamer: AATAAA"
     polyA_site      2309
                     /gene="KRT6C"
                     /gene_synonym="K6E; KRT6E; PPKNEFD"
                     /note="major polyA site"
ORIGIN      
        1 gtcctgcttc tcctgcctct cgcctccagc ctccaacgct cgccacagcc ctctcatctc
       61 ctggaaccat ggccagcaca tccaccacca tcaggagcca cagcagcagc cgccggggtt
      121 tcagtgccaa ctcagccagg ctccctgggg tcagccgctc tggcttcagc agcatctccg
      181 tgtcccgctc caggggcagt ggtggcctgg gtggtgcatg tggaggagct ggctttggca
      241 gccgcagtct gtatggcctg gggggctcca agaggatctc cattggaggg ggcagctgtg
      301 ccatcagtgg cggctatggc agcagagccg gaggcagcta tggctttggt ggcgccggga
      361 gtggatttgg tttcggtggt ggagccggca ttggctttgg tctgggtggt ggagccggcc
      421 ttgctggtgg ctttgggggc cctggcttcc ctgtgtgccc ccctggaggc atccaagagg
      481 tcaccgtcaa ccagagtctc ctgactcccc tcaacctgca aattgacccc gccatccagc
      541 gggtgcgggc cgaggagcgt gagcagatca agaccctcaa caacaagttt gcctccttca
      601 tcgacaaggt gcggttccta gagcagcaga acaaggttct ggacaccaag tggaccctgc
      661 tgcaggagca gggcaccaag actgtgaggc agaacctgga gccgttgttc gagcagtaca
      721 tcaacaacct caggaggcag ctggacagca tcgtcgggga acggggccgc ctggactcgg
      781 agctgagaaa catgcaggac ctggtggagg acctcaagaa caaatatgag gatgaaatca
      841 acaagcgcac agcagcagag aatgaatttg tgactctgaa gaaggatgtg gatgctgcct
      901 acatgaacaa ggttgaactg caagccaagg cagacactct cacagatgag atcaacttcc
      961 tgagagcctt gtatgatgca gagctgtccc agatgcagac ccacatctca gacacatccg
     1021 tggtgctatc catggacaac aaccgcaacc tggacctgga cagcatcatc gctgaggtca
     1081 aggcccaata cgaggagatt gctcagagga gccgggctga ggctgagtcc tggtaccaga
     1141 ccaagtacga ggagctgcag gtcacagcag gcagacatgg ggacgacctg cgcaacacca
     1201 agcaggagat tgctgagatc aaccgcatga tccagaggct gagatctgag atcgaccatg
     1261 tcaagaagca gtgtgccagc ctgcaggctg ccattgctga tgctgagcag cgtggggaga
     1321 tggcactcaa ggatgctaag aacaagctgg aagggctgga ggatgccctg cagaaggcca
     1381 agcaggacct ggcccggctg ctgaaggagt accaggagct gatgaatgtc aagctggccc
     1441 tggatgtgga gatcgccacc taccgcaagc tgctggaggg cgaggagtgc aggctgaatg
     1501 gcgaaggcgt tggacaagtc aacgtctctg tagtacagtc caccatctcc agtggctatg
     1561 gcggtgccag cggtgtcggc agtggcttag gcctgggtgg aggaagcagc tactcctatg
     1621 gcagtggtct tggcattgga ggtggcttca gttccagcag tggcagagcc attgggggtg
     1681 gcctcagctc tgttggaggc ggcagttcca ccatcaagta caccaccacc tcctcctcca
     1741 gcaggaagag ctacaagcac taaagtgctg cctccagctc tcggtcccac agtcctcagg
     1801 cccttctctg gctgcagagc cgtctcctca ggttgcctat cctctcctgg cctctagtct
     1861 tccctgctct ccgaggtaga gctgggtatg gatgcttagt gccctcactt ctctctgtct
     1921 atacctgccc catctgagca cccattgctc accatcagat caacctttga ttttacatca
     1981 taatgtattc accaatggag cttcactttg ttactaaatt attaatttct tgcctccaaa
     2041 attgttctct ctgaggctga gcattataag aaaatgatct ctgttccttt tcattactga
     2101 aaatcgcctg gggcttattt cagaacaact tccacttatt ttccattggc ccccaaactc
     2161 cctaagttaa aagtattgtg aacccccgcc ccgcagtatg catggaagca caagtgacta
     2221 gtcgtatgat gtacacagtc tttctccctg tgatgatttc tctgctcttt gctctttgta
     2281 atttctaaat aaagcaggtt ttagaataa
//
