LOCUS       NP_476429                628 aa            linear   PRI 27-APR-2025
DEFINITION  keratin, type II cytoskeletal 3 [Homo sapiens].
ACCESSION   NP_476429
VERSION     NP_476429.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 628)
  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  (residues 1 to 628)
  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  (residues 1 to 628)
  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  (residues 1 to 628)
  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  (residues 1 to 628)
  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  (residues 1 to 628)
  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  (residues 1 to 628)
  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  (residues 1 to 628)
  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  (residues 1 to 628)
  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 (residues 1 to 628)
  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 Jun 15, 2006 this sequence version replaced NP_476429.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     Protein         1..628
                     /product="keratin, type II cytoskeletal 3"
                     /note="cytokeratin 3; 65 kDa cytokeratin; CK-3; type-II
                     keratin Kb3; keratin 3, type II"
                     /calculated_mol_wt=64286
     Region          1..197
                     /region_name="Head"
                     /note="propagated from UniProtKB/Swiss-Prot (P12035.3)"
     Region          1..21
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P12035.3)"
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04264; propagated from
                     UniProtKB/Swiss-Prot (P12035.3)"
     Site            56
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04264; propagated from
                     UniProtKB/Swiss-Prot (P12035.3)"
     Region          <170..194
                     /region_name="Keratin_2_head"
                     /note="Keratin type II head; pfam16208"
                     /db_xref="CDD:465068"
     Region          197..512
                     /region_name="Filament"
                     /note="Intermediate filament protein; pfam00038"
                     /db_xref="CDD:459643"
     Region          198..233
                     /region_name="Coil 1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P12035.3)"
     Region          234..254
                     /region_name="Linker 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P12035.3)"
     Region          255..346
                     /region_name="Coil 1B"
                     /note="propagated from UniProtKB/Swiss-Prot (P12035.3)"
     Site            296
                     /site_type="methylation"
                     /note="N6,N6-dimethyllysine.
                     /evidence=ECO:0000250|UniProtKB:P04264; propagated from
                     UniProtKB/Swiss-Prot (P12035.3)"
     Region          347..370
                     /region_name="Linker 12"
                     /note="propagated from UniProtKB/Swiss-Prot (P12035.3)"
     Site            364
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04264; propagated from
                     UniProtKB/Swiss-Prot (P12035.3)"
     Region          371..509
                     /region_name="Coil 2"
                     /note="propagated from UniProtKB/Swiss-Prot (P12035.3)"
     Region          510..628
                     /region_name="Tail"
                     /note="propagated from UniProtKB/Swiss-Prot (P12035.3)"
     Region          605..628
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P12035.3)"
     CDS             1..628
                     /gene="KRT3"
                     /gene_synonym="CK3; K3; MECD2"
                     /coded_by="NM_057088.3:76..1962"
                     /db_xref="CCDS:CCDS44895.1"
                     /db_xref="GeneID:3850"
                     /db_xref="HGNC:HGNC:6440"
                     /db_xref="MIM:148043"
ORIGIN      
        1 msrqasktsg ggsqgfsgrs avvsgssrms cvahsggagg gaygfrsgag gfgsrslynl
       61 ggnksisisv aaggsraggf gggrsscafa ggygggfgsg ygggfgggfg ggrgmgggfg
      121 gaggfggagg fggaggfggp ggfggsggfg gpgslgspgg fgpggfpggi qevtinqsll
      181 qplnveidpq igqvkaqere qiktlnnkfa sfidkvrfle qqnkvletkw nllqqqgtss
      241 isgtnnlepl fenhinylrs yldnilgerg rldselknme dlvedfkkky edeinkrtaa
      301 enefvtlkkd vdsaymnkve lqakvdalid eidflrtlyd aelsqmqshi sdtsvvlsmd
      361 nnrsldldsi iaevraqyed iaqrskaeae alyqtklgel qttagrhgdd lrntkseiie
      421 lnrmiqrlra eiegvkkqna nlqtaiaeae qhgemalkda naklqelqaa lqqakddlar
      481 llrdyqelmn vklaldveia tyrkllegee yrmsgecpsa vsisvvssst tsasaggygg
      541 gygggmgggl gggfsagggs gsgfgrgggg gigggfgggs sgfsggsgfg sisgarygvs
      601 gggfssasnr ggsikfsqss qssqrysr
//
