LOCUS       NM_002272               2141 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens keratin 4 (KRT4), mRNA.
ACCESSION   NM_002272
VERSION     NM_002272.4
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 2141)
  AUTHORS   Li,X., Fang,J., Tao,X., Xia,J., Cheng,B. and Wang,Y.
  TITLE     Splice site m6A methylation prevents binding of DGCR8 to suppress
            KRT4 pre-mRNA splicing in oral squamous cell carcinoma
  JOURNAL   PeerJ 11, e14824 (2023)
   PUBMED   36811004
  REMARK    GeneRIF: Splice site m[6]A methylation prevents binding of DGCR8 to
            suppress KRT4 pre-mRNA splicing in oral squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2141)
  AUTHORS   Qiao,Y., Liu,B., Bai,R., Cai,J. and Peng,Q.
  TITLE     White Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report
  JOURNAL   Genes (Basel) 13 (12), 2184 (2022)
   PUBMED   36553451
  REMARK    GeneRIF: White Sponge Nevus Caused by Keratin 4 Gene Mutation: A
            Case Report.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2141)
  AUTHORS   Wang,L., Ma,X., Yu,J. and Lou,Y.
  TITLE     Negative regulation of miR-1288-3p/KRT4 axis through a circular RNA
            in oral cancer
  JOURNAL   J Biochem Mol Toxicol 36 (8), e23118 (2022)
   PUBMED   35707935
  REMARK    GeneRIF: Negative regulation of miR-1288-3p/KRT4 axis through a
            circular RNA in oral cancer.
REFERENCE   4  (bases 1 to 2141)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 2141)
  AUTHORS   Wanner,R., Zhang,J., Dorbic,T., Mischke,D., Henz,B.M., Wittig,B.
            and Rosenbach,T.
  TITLE     The promoter of the HaCaT keratinocyte differentiation-related gene
            keratin 4 contains a functional AP-2 binding site
  JOURNAL   Arch Dermatol Res 289 (12), 705-708 (1997)
   PUBMED   9452892
REFERENCE   6  (bases 1 to 2141)
  AUTHORS   Wanner,R., Forster,H.H., Tilmans,I. and Mischke,D.
  TITLE     Allelic variations of human keratins K4 and K5 provide polymorphic
            markers within the type II keratin gene cluster on chromosome 12
  JOURNAL   J Invest Dermatol 100 (6), 735-741 (1993)
   PUBMED   7684424
REFERENCE   7  (bases 1 to 2141)
  AUTHORS   Mischke,D., Wille,G. and Wild,A.G.
  TITLE     Allele frequencies and segregation of human polymorphic keratins K4
            and K5
  JOURNAL   Am J Hum Genet 46 (3), 548-552 (1990)
   PUBMED   1689954
REFERENCE   8  (bases 1 to 2141)
  AUTHORS   Leube,R.E., Bader,B.L., Bosch,F.X., Zimbelmann,R., Achtstaetter,T.
            and Franke,W.W.
  TITLE     Molecular characterization and expression of the
            stratification-related cytokeratins 4 and 15
  JOURNAL   J Cell Biol 106 (4), 1249-1261 (1988)
   PUBMED   2452170
REFERENCE   9  (bases 1 to 2141)
  AUTHORS   Romano,V., Bosco,P., Rocchi,M., Costa,G., Leube,R.E., Franke,W.W.
            and Romeo,G.
  TITLE     Chromosomal assignments of human type I and type II cytokeratin
            genes to different chromosomes
  JOURNAL   Cytogenet Cell Genet 48 (3), 148-151 (1988)
   PUBMED   2466616
REFERENCE   10 (bases 1 to 2141)
  AUTHORS   Mischke,D. and Wild,G.
  TITLE     Polymorphic keratins in human epidermis
  JOURNAL   J Invest Dermatol 88 (2), 191-197 (1987)
   PUBMED   2433356
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Michael Rogers. The reference sequence was
            derived from AK299400.1, AC107016.20, DR423040.1 and AW082111.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002272.3.
            
            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 differentiated layers of the mucosal and esophageal
            epithelia with family member KRT13. Mutations in these genes have
            been associated with White Sponge Nevus, characterized by oral,
            esophageal, and anal leukoplakia. The type II cytokeratins are
            clustered in a region of chromosome 12q12-q13. [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 :: AK098110.1, X07695.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147975, SAMEA2156670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000551956.2/ ENSP00000448220.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-260               AK299400.1         1-260
            261-330             AC107016.20        157732-157801
            331-1669            AK299400.1         331-1669
            1670-1670           AC107016.20        164568-164568
            1671-1790           AK299400.1         1671-1790
            1791-2107           DR423040.1         438-754
            2108-2141           AW082111.1         7-40                c
FEATURES             Location/Qualifiers
     source          1..2141
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2141
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /note="keratin 4"
                     /db_xref="GeneID:3851"
                     /db_xref="HGNC:HGNC:6441"
                     /db_xref="MIM:123940"
     exon            1..520
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1621
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /note="cytokeratin 4; type-II keratin Kb4; keratin 4, type
                     II"
                     /codon_start=1
                     /product="keratin, type II cytoskeletal 4"
                     /protein_id="NP_002263.3"
                     /db_xref="CCDS:CCDS41787.2"
                     /db_xref="GeneID:3851"
                     /db_xref="HGNC:HGNC:6441"
                     /db_xref="MIM:123940"
                     /translation="MIARQQCVRGGPRGFSCGSAIVGGGKRGAFSSVSMSGGAGRCSS
                     GGFGSRSLYNLRGNKSISMSVAGSRQGACFGGAGGFGTGGFGGGFGGSFSGKGGPGFP
                     VCPAGGIQEVTINQSLLTPLHVEIDPEIQKVRTEEREQIKLLNNKFASFIDKVQFLEQ
                     QNKVLETKWNLLQQQTTTTSSKNLEPLFETYLSVLRKQLDTLGNDKGRLQSELKTMQD
                     SVEDFKTKYEEEINKRTAAENDFVVLKKDVDAAYLNKVELEAKVDSLNDEINFLKVLY
                     DAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIAEVRAQYEEIAQRSKAEAEALYQTKV
                     QQLQISVDQHGDNLKNTKSEIAELNRMIQRLRAEIENIKKQCQTLQVSVADAEQRGEN
                     ALKDAHSKRVELEAALQQAKEELARMLREYQELMSVKLALDIEIATYRKLLEGEEYRM
                     SGECQSAVSISVVSGSTSTGGISGGLGSGSGFGLSSGFGSGSGSGFGFGGSVSGSSSS
                     KIISTTTLNKRR"
     exon            521..735
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            736..796
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            797..892
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            893..1057
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1183
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1404
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1439
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..2141
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2120..2125
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /note="hexamer: AATAAA"
     polyA_site      2141
                     /gene="KRT4"
                     /gene_synonym="CK-4; CK4; CYK4; K4; WSN1"
                     /note="major polyA site"
ORIGIN      
        1 actcaccggc ctgggccctg tcacttctct gatagctccc agctcgctct ctgcagccat
       61 gattgccaga cagcagtgtg tccgaggcgg gccccggggc ttcagctgtg gctcggccat
      121 tgtaggcggt ggcaagagag gtgccttcag ctcagtctcc atgtctggag gtgctggccg
      181 atgctcttct gggggatttg gcagcagaag cctctacaac ctcaggggga acaaaagcat
      241 ctccatgagt gtggctgggt cacgacaagg tgcctgcttt gggggtgctg gaggctttgg
      301 cactggtggc tttggtggtg gatttggggg ctccttcagt ggtaagggtg gccctggctt
      361 ccccgtctgc cccgctgggg gaattcagga ggtcaccatc aaccagagct tgctcacccc
      421 cctccacgtg gagattgacc ctgagatcca gaaagtccgg acggaagagc gcgaacagat
      481 caagctcctc aacaacaagt ttgcctcctt catcgacaag gtgcagttct tagagcaaca
      541 gaataaggtc ctggagacca aatggaacct gctccagcag cagacgacca ccacctccag
      601 caaaaacctt gagcccctct ttgagaccta cctcagtgtc ctgaggaagc agctagatac
      661 cttgggcaat gacaaagggc gcctgcagtc tgagctgaag accatgcagg acagcgtgga
      721 ggacttcaag actaagtatg aagaggagat caacaaacgc acagcagccg agaatgactt
      781 tgtggtccta aagaaggacg tggatgctgc ctacctgaac aaggtggagt tggaggccaa
      841 ggtggacagt cttaatgacg agatcaactt cctgaaggtc ctctatgatg cggagctgtc
      901 ccagatgcag acccatgtca gcgacacgtc cgtggtcctt tccatggaca acaaccgcaa
      961 cctggacctg gacagcatta ttgccgaggt ccgtgcccag tacgaggaga ttgcccagag
     1021 gagcaaggct gaggctgaag ccctgtacca gaccaaggtc cagcagctcc agatctcggt
     1081 tgaccaacat ggtgacaacc tgaagaacac caagagtgaa attgcagagc tcaacaggat
     1141 gatccagagg ctgcgggcag agatcgagaa catcaagaag cagtgccaga ctcttcaggt
     1201 atccgtggct gatgcagagc agcgaggtga gaatgccctt aaagatgccc acagcaagcg
     1261 cgtagagctg gaggctgccc tgcagcaggc caaggaggag ctggcacgaa tgctgcgtga
     1321 gtaccaggag ctcatgagtg tgaagctggc cttggacatc gagatcgcca cctaccgcaa
     1381 actgctggag ggcgaggagt acagaatgtc tggagaatgc cagagtgccg tgagcatctc
     1441 tgtggtcagc ggtagcacca gcactggagg catcagcgga ggattaggaa gtggctccgg
     1501 gtttggcctg agtagtggct ttggctccgg ctctggaagt ggctttgggt ttggtggcag
     1561 tgtctctggc agttccagca gcaagatcat ctctaccacc accctgaaca agagacgata
     1621 gaggagacga ggtccctgca gctcactgtg tccagctggg cccagcactg gtgtctctgt
     1681 gcttccttca cttcacctcc atcctctgtc tctggggctc atcttactag tatcccctcc
     1741 actatcccat gggctctctc tgccccagga tgatcttctg tgctgggaca gggactctgc
     1801 ctcttggagt ttggtagcta cttcttgatt tgggcctggt gacccacctg gaatgggaag
     1861 gatgtcagct gacctctcac ctcccatgga cagagaagaa aatgaccagg agtgtcatct
     1921 ccagaattat tggggtcaca tatgtccctt cccagtccaa tgccatctcc cactagatcc
     1981 tgtattatcc atctacatca gaaccaaact acttctccaa cacccggcag cacttggccc
     2041 tgcaagctta ggatgagaac cacttagtgt cccattctac tcctctcatt ccctcttatc
     2101 catctgcagg tgaatcttca ataaaatgct tttgtcattc a
//
