Keratin 3

Last updated
KRT3
Identifiers
Aliases KRT3 , CK3, K3, keratin 3, MECD2
External IDs OMIM: 148043 GeneCards: KRT3
Gene location (Human)
Ideogram human chromosome 12.svg
Chr. Chromosome 12 (human) [1]
Human chromosome 12 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 12q13.13Start52,789,685 bp [1]
End52,796,117 bp [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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]

Related Research Articles

Keratin 7

Keratin, type II cytoskeletal 7 also known as cytokeratin-7 (CK-7) or keratin-7 (K7) or sarcolectin (SCL) is a protein that in humans is encoded by the KRT7 gene. Keratin 7 is a type II keratin. It is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels.

Keratin 6A

Keratin 6A is one of the 27 different type II keratins expressed in humans. Keratin 6A was the first type II keratin sequence determined. Analysis of the sequence of this keratin together with that of the first type I keratin led to the discovery of the four helical domains in the central rod of keratins. In humans Keratin 6A is encoded by the KRT6A gene.

Keratin 4

Keratin, type I cytoskeletal 4 also known as cytokeratin-4 (CK-4) or keratin-4 (K4) is a protein that in humans is encoded by the KRT4 gene.

Keratin 14

Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined. Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the KRT14 gene.

Keratin 13

Keratin 13 is a protein that in humans is encoded by the KRT13 gene.

Keratin 12

Keratin 12 is a protein that in humans is encoded by the KRT12 gene.

Keratin 10

Keratin, type I cytoskeletal 10 also known as cytokeratin-10 (CK-10) or keratin-10 (K10) is a protein that in humans is encoded by the KRT10 gene. Keratin 10 is a type I keratin.

Keratin 9

Keratin 9 is a protein that in humans is encoded by the KRT9 gene.

Keratin 19

Keratin, type I cytoskeletal 19 also known as cytokeratin-19 (CK-19) or keratin-19 (K19) is a 40 kDa protein that in humans is encoded by the KRT19 gene. Keratin 19 is a type I keratin.

Keratin 18

Keratin 18 is a type I cytokeratin. It is, together with its filament partner keratin 8, perhaps the most commonly found products of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene.

Keratin 17

Keratin, type I cytoskeletal 17 is a protein that in humans is encoded by the KRT17 gene.

Keratin 16

Keratin 16 is a protein that in humans is encoded by the KRT16 gene.

Keratin 15

Keratin 15 is a protein that in humans is encoded by the KRT15 gene.

Keratin 6C

Keratin 6C, is a type II cytokeratin, one of a number of isoforms of keratin 6 encoded by separate genes located within the type II keratin gene cluster on human chromosome 12q. This gene was uncovered recently by the Human Genome Project and its expression patterns in humans remains unknown.

TGFBI

Transforming growth factor, beta-induced, 68kDa, also known as TGFBI, is a protein which in humans is encoded by the TGFBI gene, locus 5q31.

KRT23

Keratin, type I cytoskeletal 23 is a protein that in humans is encoded by the KRT23 gene.

Keratin 34

Keratin, type I cuticular Ha4 is a protein that in humans is encoded by the KRT34 gene.

KRT85

Keratin, type II cuticular Hb5 is a protein that in humans is encoded by the KRT85 gene.

KRT83

Keratin 83, also known as KRT83, is a protein which humans is encoded by the KRT83 gene.

Meesmann corneal dystrophy

Meesmann corneal dystrophy (MECD) is a rare hereditary autosomal dominant disease that is characterized as a type of corneal dystrophy and a keratin disease. MECD is characterized by the formation of microcysts in the outermost layer of the cornea, known as the anterior corneal epithelium. The anterior corneal epithelium also becomes fragile. This usually affects both eyes rather than a single eye and worsens over time. There are two phenotypes, Meesmann corneal dystrophy 1 (MECD1) and Meesmann corneal dystrophy 2 (MECD2), which affect the genes KRT3 and KRT12, respectively. A heterozygous mutation in either of these genes will lead to a single phenotype. Many with Meesmann corneal dystrophy are asymptomatic or experience mild symptoms.

References

  1. 1 2 3 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.