LOCUS       NM_006121               2451 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens keratin 1 (KRT1), mRNA.
ACCESSION   NM_006121
VERSION     NM_006121.4
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 2451)
  AUTHORS   Kliche,J., Simonetti,L., Krystkowiak,I., Kuss,H., Diallo,M.,
            Rask,E., Nilsson,J., Davey,N.E. and Ivarsson,Y.
  TITLE     Proteome-scale characterisation of motif-based interactome rewiring
            by disease mutations
  JOURNAL   Mol Syst Biol 20 (9), 1025-1048 (2024)
   PUBMED   39009827
REFERENCE   2  (bases 1 to 2451)
  AUTHORS   Siew,Z.Y., Tan,Y.F., Iswara,R.P., Wong,S.F., Wong,S.T., Tan,B.K.,
            Leong,P.P., Tan,C.W., Wang,L.F., Leong,C.O. and Voon,K.
  TITLE     Human cytokeratin 1 plays a role in the interaction of Pteropine
            orthoreovirus with Hek293 cells but not HeLa cells
  JOURNAL   Microbes Infect 26 (1-2), 105243 (2024)
   PUBMED   38380604
  REMARK    GeneRIF: Human cytokeratin 1 plays a role in the interaction of
            Pteropine orthoreovirus with Hek293 cells but not HeLa cells.
REFERENCE   3  (bases 1 to 2451)
  AUTHORS   Cheng,C.W., Fang,W.F. and Lin,J.D.
  TITLE     Associations of serum keratin 1 with thyroid function and immunity
            in Graves' disease
  JOURNAL   PLoS One 18 (11), e0289345 (2023)
   PUBMED   38019813
  REMARK    GeneRIF: Associations of serum keratin 1 with thyroid function and
            immunity in Graves' disease.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2451)
  AUTHORS   Kim,T., Kim,S.C. and Lee,S.E.
  TITLE     Two cases of KRT1 mutation-associated epidermolytic ichthyosis
            without typical epidermolytic hyperkeratosis in the neonatal skin
            lesions
  JOURNAL   Pediatr Dermatol 40 (6), 1149-1151 (2023)
   PUBMED   37170713
  REMARK    GeneRIF: Two cases of KRT1 mutation-associated epidermolytic
            ichthyosis without typical epidermolytic hyperkeratosis in the
            neonatal skin lesions.
REFERENCE   5  (bases 1 to 2451)
  AUTHORS   Winkler,R., Quaas,M., Glasmacher,S., Wolfrum,U., Thalheim,T.,
            Galle,J., Krohn,K., Magin,T.M. and Aust,G.
  TITLE     The Adhesion G-Protein-Coupled Receptor GPR115/ADGRF4 Regulates
            Epidermal Differentiation and Associates with Cytoskeletal KRT1
  JOURNAL   Cells 11 (19), 3151 (2022)
   PUBMED   36231117
  REMARK    GeneRIF: The Adhesion G-Protein-Coupled Receptor GPR115/ADGRF4
            Regulates Epidermal Differentiation and Associates with
            Cytoskeletal KRT1.
            Erratum:[Cells. 2023 Jun 21;12(13):1677. doi:
            10.3390/cells12131677.. PMID: 37443844]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2451)
  AUTHORS   Korge,B.P., Compton,J.G., Steinert,P.M. and Mischke,D.
  TITLE     The two size alleles of human keratin 1 are due to a deletion in
            the glycine-rich carboxyl-terminal V2 subdomain
  JOURNAL   J Invest Dermatol 99 (6), 697-702 (1992)
   PUBMED   1281859
REFERENCE   7  (bases 1 to 2451)
  AUTHORS   Compton,J.G., DiGiovanna,J.J., Santucci,S.K., Kearns,K.S.,
            Amos,C.I., Abangan,D.L., Korge,B.P., McBride,O.W., Steinert,P.M.
            and Bale,S.J.
  TITLE     Linkage of epidermolytic hyperkeratosis to the type II keratin gene
            cluster on chromosome 12q
  JOURNAL   Nat Genet 1 (4), 301-305 (1992)
   PUBMED   1284546
REFERENCE   8  (bases 1 to 2451)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   9  (bases 1 to 2451)
  AUTHORS   Lessin,S.R., Huebner,K., Isobe,M., Croce,C.M. and Steinert,P.M.
  TITLE     Chromosomal mapping of human keratin genes: evidence of non-linkage
  JOURNAL   J Invest Dermatol 91 (6), 572-578 (1988)
   PUBMED   2461420
REFERENCE   10 (bases 1 to 2451)
  AUTHORS   Mansbridge,J.N. and Hanawalt,P.C.
  TITLE     Role of transforming growth factor beta in the maturation of human
            epidermal keratinocytes
  JOURNAL   J Invest Dermatol 90 (3), 336-341 (1988)
   PUBMED   2450142
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Michael Rogers. The reference sequence was
            derived from AC055716.24.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006121.3.
            
            Summary: The protein encoded by this gene is a member of the
            keratin gene family. The type II cytokeratins consist of basic or
            neutral proteins which are arranged in pairs of heterotypic keratin
            chains coexpressed during differentiation of simple and stratified
            epithelial tissues. This type II cytokeratin is specifically
            expressed in the spinous and granular layers of the epidermis with
            family member KRT10 and mutations in these genes have been
            associated with bullous congenital ichthyosiform erythroderma. The
            type II cytokeratins are clustered in a region of chromosome
            12q12-q13. [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 :: BC063697.1, AK313986.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252244.3/ ENSP00000252244.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-650               AC055716.24        31404-32053         c
            651-865             AC055716.24        30188-30402         c
            866-926             AC055716.24        29809-29869         c
            927-1022            AC055716.24        29296-29391         c
            1023-1187           AC055716.24        28962-29126         c
            1188-1313           AC055716.24        28705-28830         c
            1314-1534           AC055716.24        27921-28141         c
            1535-1569           AC055716.24        27356-27390         c
            1570-2451           AC055716.24        26382-27263         c
FEATURES             Location/Qualifiers
     source          1..2451
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2451
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /note="keratin 1"
                     /db_xref="GeneID:3848"
                     /db_xref="HGNC:HGNC:6412"
                     /db_xref="MIM:139350"
     exon            1..650
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..1994
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /note="epidermolytic hyperkeratosis 1; cytokeratin 1; hair
                     alpha protein; CK-1; 67 kDa cytokeratin; type-II keratin
                     Kb1; keratin 1, type II"
                     /codon_start=1
                     /product="keratin, type II cytoskeletal 1"
                     /protein_id="NP_006112.3"
                     /db_xref="CCDS:CCDS8836.1"
                     /db_xref="GeneID:3848"
                     /db_xref="HGNC:HGNC:6412"
                     /db_xref="MIM:139350"
                     /translation="MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGG
                     RFSSCGGGGGSFGAGGGFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGG
                     GFGGGGFGGGGIGGGGFGGFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQS
                     LLQPLNVEIDPEIQKVKSREREQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQV
                     DTSTRTHNLEPYFESFINNLRRRVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINK
                     RTNAENEFVTIKKDVDGAYMTKVDLQAKLDNLQQEIDFLTALYQAELSQMQTQISETN
                     VILSMDNNRSLDLDSIIAEVKAQYEDIAQKSKAEAESLYQSKYEELQITAGRHGDSVR
                     NSKIEISELNRVIQRLRSEIDNVKKQISNLQQSISDAEQRGENALKDAKNKLNDLEDA
                     LQQAKEDLARLLRDYQELMNTKLALDLEIATYRTLLEGEESRMSGECAPNVSVSVSTS
                     HTTISGGGSRGGGGGGYGSGGSSYGSGGGSYGSGGGGGGGRGSYGSGGSSYGSGGGSY
                     GSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSGGRGSGGGSSGGSIGGRGSSSGGVK
                     SSGGSSSVKFVSTTYSGVTR"
     exon            651..865
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /inference="alignment:Splign:2.1.0"
     exon            866..926
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1022
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1187
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1313
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1534
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1569
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /inference="alignment:Splign:2.1.0"
     exon            1570..2451
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2431..2436
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /note="hexamer: AATAAA"
     polyA_site      2451
                     /gene="KRT1"
                     /gene_synonym="AEI2; CK1; EHK; EHK1; EPPK; K1; KRT1A;
                     NEPPK"
                     /note="major polyA site"
ORIGIN      
        1 agaggagtgt ttagctcctt cccttactct accttgctcc tacttttctc taagtcaaca
       61 tgagtcgaca gtttagttcc aggtctgggt accgaagtgg agggggcttc agctctggct
      121 ctgctgggat catcaactac cagcgcagga ccaccagcag ctccacacgc cgcagtggag
      181 gaggtggtgg gagattttca agctgtggtg gtggtggtgg tagctttggt gctggtggtg
      241 gatttggaag tcggagtctt gttaaccttg gtggcagtaa aagcatctcc ataagtgtgg
      301 ctagaggagg tggacgtggt agtggctttg gtggtggtta tggtggtggt ggctttggtg
      361 gtggtggctt tggtggtggt ggctttggtg gaggtggcat tgggggtggt ggctttggtg
      421 gttttggcag tggtggtggt ggttttggtg gaggtggctt tgggggtggt ggatatgggg
      481 gtggttatgg tcctgtctgc cctcctggtg gcatacaaga agtcactatc aaccagagcc
      541 ttcttcagcc cctcaatgtg gagattgacc ctgagatcca aaaggtgaag tctcgagaaa
      601 gggagcaaat caagtcactc aacaaccaat ttgcctcctt cattgacaag gtgaggttcc
      661 tggagcagca gaaccaggta ctgcaaacaa aatgggagct gctgcagcag gtagatacct
      721 ccactagaac ccataattta gagccctact ttgagtcatt catcaacaat ctccgaagga
      781 gagtggacca actgaagagt gatcaatctc ggttggattc ggaactgaag aacatgcagg
      841 acatggtgga ggattaccgg aacaagtatg aggatgaaat caacaagcgg acaaatgcag
      901 agaatgaatt tgtgaccatc aagaaggatg tggatggtgc ttatatgacc aaggtggacc
      961 ttcaggccaa acttgacaac ttgcagcagg aaattgattt ccttacagca ctctaccaag
     1021 cagagttgtc tcagatgcag actcaaatca gtgaaactaa tgtcatcctc tctatggaca
     1081 acaaccgcag tctcgacctg gacagcatca ttgctgaggt caaggcccag tacgaggata
     1141 tagcccagaa gagcaaagct gaggccgagt ccttgtacca gagcaagtat gaagagctgc
     1201 agatcactgc tggcagacat ggggatagtg tgagaaattc aaagatagaa atttctgagc
     1261 tgaatcgtgt gatccagaga cttagatctg aaatcgacaa tgtcaagaag cagatctcca
     1321 acttgcagca gtccatcagt gatgcagagc agcgtggcga gaatgccctc aaggatgcca
     1381 agaacaagct gaatgacctg gaggatgccc tgcagcaggc caaggaagac ctggcccgcc
     1441 tgctgcgcga ctaccaggag ctgatgaaca caaagctggc cctggatctg gagattgcca
     1501 cctacaggac cctcctggag ggagaagaaa gcaggatgtc tggagaatgt gccccgaacg
     1561 tgagtgtgtc tgtgagcaca agccacacca ccatcagtgg aggtggcagc cgaggaggtg
     1621 gcggcggtgg ctacggctct ggaggtagca gctatggctc cggaggtggt agctatggtt
     1681 ctggaggtgg cggcggcggc ggccgtggca gctatggctc cggaggtagc agctacggct
     1741 ccggaggtgg cagctatggc tctggaggtg gcggcggcgg ccatggcagc tacggctccg
     1801 gaagcagcag tgggggctac agaggtggct ctggaggcgg cggcggcggc agctctggcg
     1861 gccggggctc tggcggcggg agctctggag gctccatagg aggccgggga tccagctctg
     1921 ggggtgtcaa gtcctctggt ggcagttcca gcgtgaagtt tgtttctacc acttattccg
     1981 gagtaaccag ataaagagat gccctctgtt tcattagctc tagttctccc ccagcatcac
     2041 taacaaatat gcttggcaag accgaggtcg atttgtccca gccttaccgg agaaaagagc
     2101 tatggttagt tacactagct catcctattc ccccagctct ttcttttctg ctgtttccca
     2161 atgaagtttt cagatcagtg gcaatctcag tcccctggct atgaccctgc tttgttcttt
     2221 ccctgagaaa cagttcagca gtgaccacca cccacatgac atttcaaagc acctccttaa
     2281 gccagccaga gtaggaccag ttagacccag ggtgtggaca gctccttagc atcttatctc
     2341 tgtgctgttt tggttttgta cataaggtgt aagcaagttg tttttctttt gtggagaggt
     2401 cttaaactcc ccatttcctt gttttgctgc aataaactgc atttgaaatt c
//
