Keratin 3

KRT3
Identifiers
Aliases	KRT3, CK3, K3, keratin 3, MECD2
External IDs	OMIM: 148043; GeneCards: KRT3; OMA:KRT3 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q13.13 Start 52,789,685 bp[1] End 52,796,117 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gums skin of abdomen vagina skin of limb skin of leg tonsil islet of Langerhans cervix salivary gland right lobe of thyroid gland n/a More reference expression data BioGPS n/a
Gene ontology Molecular function structural molecule activity Cellular component keratin filament extracellular exosome intermediate filament cytosol Biological process epithelial cell differentiation intermediate filament cytoskeleton organization keratinization cornification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3850 n/a Ensembl ENSG00000186442 n/a UniProt P12035 n/a RefSeq (mRNA) NM_057088 n/a RefSeq (protein) NP_476429 n/a Location (UCSC) Chr 12: 52.79 – 52.8 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Keratin 3 also known as cytokeratin 3 is a protein that in humans is encoded by the KRT3 gene.^[3][4] Keratin 3 is a type II cytokeratin. It is specifically found in the corneal epithelium together with keratin 12.

Mutations in the KRT3 encoding this protein have been associated with Meesmanns Corneal Dystrophy.^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000186442 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Raimondi E, Moralli D, De Carli L, Ceratto N, Balzaretti M, Leube R, Collin C, Romano V (1994). "Assignment of the human cytokeratin 3 gene (KRT3) to 12q12-->q13 by FISH". Cytogenet. Cell Genet. 66 (3): 162–3. doi:10.1159/000133690. PMID 7510223.
4. Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (July 2006). "New consensus nomenclature for mammalian keratins". J. Cell Biol. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889.
5. Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH (June 1997). "Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy". Nat. Genet. 16 (2): 184–7. doi:10.1038/ng0697-184. PMID 9171831. S2CID 24438634.