LOCUS       NM_057088               2319 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens keratin 3 (KRT3), mRNA.
ACCESSION   NM_057088
VERSION     NM_057088.3
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 2319)
  AUTHORS   Abad-Morales,V., Barbany,M., Gris,O., Guell,J.L. and Pomares,E.
  TITLE     Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral
            Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic
            Variant in the Keratin K3 Gene: A Case Report
  JOURNAL   Cornea 40 (3), 370-372 (2021)
   PUBMED   33346999
  REMARK    GeneRIF: Coexistence of Meesmann Corneal Dystrophy and a
            Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a
            Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report.
REFERENCE   2  (bases 1 to 2319)
  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   3  (bases 1 to 2319)
  AUTHORS   Latta,L., Viestenz,A., Stachon,T., Colanesi,S., Szentmary,N.,
            Seitz,B. and Kasmann-Kellner,B.
  TITLE     Human aniridia limbal epithelial cells lack expression of keratins
            K3 and K12
  JOURNAL   Exp Eye Res 167, 100-109 (2018)
   PUBMED   29162348
  REMARK    GeneRIF: RT-PCR showed that K3 and K12 transcripts were absent from
            patient cells, but present in healthy control preparations.
REFERENCE   4  (bases 1 to 2319)
  AUTHORS   Sasamoto,Y., Hayashi,R., Park,S.J., Saito-Adachi,M., Suzuki,Y.,
            Kawasaki,S., Quantock,A.J., Nakai,K., Tsujikawa,M. and Nishida,K.
  TITLE     PAX6 Isoforms, along with Reprogramming Factors, Differentially
            Regulate the Induction of Cornea-specific Genes
  JOURNAL   Sci Rep 6, 20807 (2016)
   PUBMED   26899008
  REMARK    GeneRIF: we show that the two PAX6 isoforms differentially and
            cooperatively regulate the expression of genes specific to the
            structure and functions of the corneal epithelium, particularly
            keratin 3 (KRT3) and keratin 12 (KRT12). PAX6 isoform-a induced
            KRT3 expression by targeting its upstream region. KLF4 enhanced
            this induction. A combination of PAX6 isoform-b, KLF4, and OCT4
            induced KRT12 expression
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2319)
  AUTHORS   Cao,W., Yan,M., Hao,Q., Wang,S., Wu,L., Liu,Q., Li,M., Biddle,F.G.
            and Wu,W.
  TITLE     Autosomal-dominant Meesmann epithelial corneal dystrophy without an
            exon mutation in the keratin-3 or keratin-12 gene in a Chinese
            family
  JOURNAL   J Int Med Res 41 (2), 511-518 (2013)
   PUBMED   23569037
  REMARK    GeneRIF: Exon sequencing of KRT3 and KRT12 in six affected and
            eight unaffected individuals did not detect any mutations or
            nucleotide sequence variants in Meesmann epithelial corneal
            dystrophy.
REFERENCE   6  (bases 1 to 2319)
  AUTHORS   Rogers,M.A., Edler,L., Winter,H., Langbein,L., Beckmann,I. and
            Schweizer,J.
  TITLE     Characterization of new members of the human type II keratin gene
            family and a general evaluation of the keratin gene domain on
            chromosome 12q13.13
  JOURNAL   J Invest Dermatol 124 (3), 536-544 (2005)
   PUBMED   15737194
REFERENCE   7  (bases 1 to 2319)
  AUTHORS   Irvine,A.D., Corden,L.D., Swensson,O., Swensson,B., Moore,J.E.,
            Frazer,D.G., Smith,F.J., Knowlton,R.G., Christophers,E.,
            Rochels,R., Uitto,J. and McLean,W.H.
  TITLE     Mutations in cornea-specific keratin K3 or K12 genes cause
            Meesmann's corneal dystrophy
  JOURNAL   Nat Genet 16 (2), 184-187 (1997)
   PUBMED   9171831
REFERENCE   8  (bases 1 to 2319)
  AUTHORS   Raimondi,E., Moralli,D., De Carli,L., Ceratto,N., Balzaretti,M.,
            Leube,R., Collin,C. and Romano,V.
  TITLE     Assignment of the human cytokeratin 3 gene (KRT3) to 12q12-->q13 by
            FISH
  JOURNAL   Cytogenet Cell Genet 66 (3), 162-163 (1994)
   PUBMED   7510223
REFERENCE   9  (bases 1 to 2319)
  AUTHORS   Klinge,E.M., Sylvestre,Y.R., Freedberg,I.M. and Blumenberg,M.
  TITLE     Evolution of keratin genes: different protein domains evolve by
            different pathways
  JOURNAL   J Mol Evol 24 (4), 319-329 (1987)
   PUBMED   2439698
REFERENCE   10 (bases 1 to 2319)
  AUTHORS   Moll,R., Franke,W.W., Schiller,D.L., Geiger,B. and Krepler,R.
  TITLE     The catalog of human cytokeratins: patterns of expression in normal
            epithelia, tumors and cultured cells
  JOURNAL   Cell 31 (1), 11-24 (1982)
   PUBMED   6186379
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Michael Rogers. The reference sequence was
            derived from AC107016.20, CV571376.1, AJ628418.1 and BM672628.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_057088.2.
            
            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 corneal epithelium with family member KRT12 and
            mutations in these genes have been associated with Meesmann's
            Corneal Dystrophy. 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 :: AK314987.1, AJ628418.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2156670 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000417996.2/ ENSP00000413479.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 AC107016.20        175471-175479
            10-129              CV571376.1         1-120
            130-1098            AJ628418.1         10-978
            1099-1263           AC107016.20        179185-179349
            1264-1389           AC107016.20        179772-179897
            1390-1610           AC107016.20        180162-180382
            1611-1645           AC107016.20        180716-180750
            1646-2283           AC107016.20        181230-181867
            2284-2319           BM672628.1         18-53               c
FEATURES             Location/Qualifiers
     source          1..2319
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2319
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /note="keratin 3"
                     /db_xref="GeneID:3850"
                     /db_xref="HGNC:HGNC:6440"
                     /db_xref="MIM:148043"
     exon            1..720
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..1962
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /note="cytokeratin 3; 65 kDa cytokeratin; CK-3; type-II
                     keratin Kb3; keratin 3, type II"
                     /codon_start=1
                     /product="keratin, type II cytoskeletal 3"
                     /protein_id="NP_476429.2"
                     /db_xref="CCDS:CCDS44895.1"
                     /db_xref="GeneID:3850"
                     /db_xref="HGNC:HGNC:6440"
                     /db_xref="MIM:148043"
                     /translation="MSRQASKTSGGGSQGFSGRSAVVSGSSRMSCVAHSGGAGGGAYG
                     FRSGAGGFGSRSLYNLGGNKSISISVAAGGSRAGGFGGGRSSCAFAGGYGGGFGSGYG
                     GGFGGGFGGGRGMGGGFGGAGGFGGAGGFGGAGGFGGPGGFGGSGGFGGPGSLGSPGG
                     FGPGGFPGGIQEVTINQSLLQPLNVEIDPQIGQVKAQEREQIKTLNNKFASFIDKVRF
                     LEQQNKVLETKWNLLQQQGTSSISGTNNLEPLFENHINYLRSYLDNILGERGRLDSEL
                     KNMEDLVEDFKKKYEDEINKRTAAENEFVTLKKDVDSAYMNKVELQAKVDALIDEIDF
                     LRTLYDAELSQMQSHISDTSVVLSMDNNRSLDLDSIIAEVRAQYEDIAQRSKAEAEAL
                     YQTKLGELQTTAGRHGDDLRNTKSEIIELNRMIQRLRAEIEGVKKQNANLQTAIAEAE
                     QHGEMALKDANAKLQELQAALQQAKDDLARLLRDYQELMNVKLALDVEIATYRKLLEG
                     EEYRMSGECPSAVSISVVSSSTTSASAGGYGGGYGGGMGGGLGGGFSAGGGSGSGFGR
                     GGGGGIGGGFGGGSSGFSGGSGFGSISGARYGVSGGGFSSASNRGGSIKFSQSSQSSQ
                     RYSR"
     exon            721..941
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1002
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1098
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1263
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1264..1389
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..1610
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..1645
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1646..2319
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2299..2304
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /note="hexamer: AATAAA"
     polyA_site      2319
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /note="major polyA site"
ORIGIN      
        1 atttcccatc cctcttcctc tgactctcag tgtccctgct taacttacac tcttctcttc
       61 gccaagctcc ttaccatgag cagacaagcc agcaagacat ctggtggcgg gagccagggt
      121 ttctccggcc gctctgctgt ggtctccggc agcagcagga tgagctgtgt ggcccactct
      181 gggggagctg gcggaggggc ctatggcttc cggagcggag caggtggctt tggcagtcgc
      241 agcctctaca acctgggcgg caacaagagc atctccatca gcgtggcagc tggcggctcc
      301 cgggctggag gctttggggg agggcggagc agctgtgcct ttgcaggtgg ctatggaggt
      361 ggctttggga gcggctatgg aggtggcttt ggtggtggct ttggtggtgg cagaggaatg
      421 ggaggtggct ttggtggagc tggtggcttt ggaggggctg gtggctttgg aggggctggt
      481 ggctttggtg gtcctggtgg ctttggtggg tctggtggct ttggtgggcc tggcagcttg
      541 ggcagtcctg gtggctttgg ccctgggggc tttcctgggg gaattcagga agtgactatc
      601 aaccagagtc tcctgcagcc cctcaatgtg gagatcgacc cccagattgg gcaagtaaag
      661 gcccaggagc gggaacagat caagaccctc aacaacaagt ttgcctcctt cattgacaag
      721 gtgcggttcc tggagcaaca gaacaaagtc ctggagacca agtggaacct gctccagcag
      781 cagggcacaa gttccatctc aggcacaaac aaccttgagc ctctttttga gaatcacatc
      841 aactacctgc ggagctacct ggacaacatc ctcggggaga gagggcgcct ggactctgag
      901 ctgaagaaca tggaggacct ggtggaagac ttcaagaaga aatatgagga tgaaatcaat
      961 aaacgtacag ctgctgagaa tgaatttgtg actctgaaga aggatgtgga cagtgcctat
     1021 atgaacaagg tggagcttca ggccaaagtg gatgccttga tagatgagat cgacttctta
     1081 aggaccctct acgacgctga gctatctcag atgcagagcc acatcagtga cacatctgtg
     1141 gtgctgtcca tggacaataa tcgctccctg gacctggaca gcatcattgc tgaagttcgt
     1201 gcacagtatg aggatatcgc tcagagaagc aaggccgaag ctgaggccct gtaccagacc
     1261 aagttggggg agctgcagac cacggctggc aggcatgggg atgacctaag aaataccaag
     1321 agcgagatca tagagctcaa cagaatgatc cagaggctgc gggcagagat cgagggtgtc
     1381 aagaagcaga atgccaacct gcagacggcc attgccgagg ccgagcagca tggagagatg
     1441 gccctcaagg atgccaatgc caagctccaa gagctgcagg ctgctctaca gcaggcgaag
     1501 gatgacctgg cgcggctgct acgtgactac caggagctga tgaatgtcaa gctggccctg
     1561 gacgtggaga tcgccaccta ccgcaagctg ctggagggcg aggagtacag gatgtctgga
     1621 gagtgtccga gtgctgtcag catctccgtg gtcagcagca gcacgacttc cgcctccgca
     1681 ggtggctatg gaggaggtta cggcggaggc atgggcggtg gtttaggagg tggcttcagt
     1741 gcgggcggcg gctcaggcag tggctttggc cggggaggcg gcggtggaat cggcggtgga
     1801 tttggcggcg gcagcagcgg tttcagcggt ggcagcggct ttggctccat ctctggcgcc
     1861 cgctatggag tcagtggcgg gggcttcagc tcggccagca accggggcgg cagcatcaag
     1921 ttctcccagt cctcccagtc ctcccagcgc tactccagat aaagagcacg catcagcatc
     1981 gcagccactc cagcgcctcc cctccgctcc ccacgccccc atattggcaa cacccccagc
     2041 gccaccccat gctccccaag aacgcggctc tgcgctggaa ggcttgtggc ctcttgctcc
     2101 tccttccaga tccccggcca agcccagtca cgagaatttc aggctcttct ctccggctcc
     2161 agcctgtgcc tgtgattgtc caggtgtggc ctaggccgcc accttctgct gccccggagt
     2221 cccctccctg ggtgggatgc tcactacagc tctgatgtat atagcacaca gccccctccg
     2281 cccctccggt ctgtcgccaa taaagtgcac tgtgtttca
//
