[1]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Skin;
DOI=10.1074/jbc.270.31.18581; PubMed=7543104 [NCBI, ExPASy, EBI, Israel, Japan]
Takahashi K.,
Paladini R.D.,
Coulombe P.A.;
"Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms.";
J. Biol. Chem. 270:18581-18592(1995).
|
[2]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Kalnine N.,
Chen X.,
Rolfs A.,
Halleck A.,
Hines L.,
Eisenstein S.,
Koundinya M.,
Raphael J.,
Moreira D.,
Kelley T.,
LaBaer J.,
Lin Y.,
Phelan M.,
Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
|
[3]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-21.
TISSUE=Brain, Ovary, and Pancreas;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
[4]
|
PROTEIN SEQUENCE OF 2-9; 31-40; 43-86; 169-204; 208-232; 241-347; 350-369; 379-386; 425-436; 447-475 AND 534-550, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, AND MASS SPECTROMETRY.
TISSUE=Lung carcinoma;
Bienvenut W.V.,
Vousden K.H.,
Lukashchuk N.,
Lilla S.,
Lange E.,
Sumpton D.P.;
Submitted (MAR-2008) to UniProtKB.
|
[5]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 208-564.
DOI=10.1016/0092-8674(83)90034-X; PubMed=6191871 [NCBI, ExPASy, EBI, Israel, Japan]
Hanukoglu I.,
Fuchs E.;
"The cDNA sequence of a type II cytoskeletal keratin reveals constant and variable structural domains among keratins.";
Cell 33:915-924(1983).
|
[6]
|
INTERACTION WITH TCHP.
DOI=10.1242/jcs.01667; PubMed=15731013 [NCBI, ExPASy, EBI, Israel, Japan]
Nishizawa M.,
Izawa I.,
Inoko A.,
Hayashi Y.,
Nagata K.,
Yokoyama T.,
Usukura J.,
Inagaki M.;
"Identification of trichoplein, a novel keratin filament-binding protein.";
J. Cell Sci. 118:1081-1090(2005).
|
[7]
|
IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J.,
Superti-Furga G.,
Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
|
[8]
|
VARIANT PC1 ASN-171 DEL.
DOI=10.1038/ng0795-363; PubMed=7545493 [NCBI, ExPASy, EBI, Israel, Japan]
Bowden P.E.,
Haley J.L.,
Kansky A.,
Rothnagel J.A.,
Jones D.O.,
Turner R.J.;
"Mutation of a type II keratin gene (K6a) in pachyonychia congenita.";
Nat. Genet. 10:363-365(1995).
|
[9]
|
VARIANTS PC1 VAL-174; ARG-469 AND LYS-472.
DOI=10.1046/j.0022-202x.2001.01565.x; PubMed=11886499 [NCBI, ExPASy, EBI, Israel, Japan]
Terrinoni A.,
Smith F.J.D.,
Didona B.,
Canzona F.,
Paradisi M.,
Huber M.,
Hohl D.,
David A.,
Verloes A.,
Leigh I.M.,
Munro C.S.,
Melino G.,
McLean W.H.I.;
"Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.";
J. Invest. Dermatol. 117:1391-1396(2001).
|
|
- SUBUNIT: Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17. Interacts with TCHP.
- INTERACTION:
Q15834:CCDC85B; NbExp=1; IntAct=EBI-702198, EBI-739674;
- TISSUE SPECIFICITY: Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.
- DISEASE: Defects in KRT6A are a cause of pachyonychia congenita type 1 (PC1) [MIM:167200]; also known as Jadassohn-Lewandowsky syndrome. PC1 is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present.
- ALLERGEN: Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations.
- MISCELLANEOUS: There are at least six isoforms of human type II keratin-6 (K6), K6A being the most abundant representing about 77% of all forms found in epithelia.
- MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).
- SIMILARITY: Belongs to the intermediate filament family.
- WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org";.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=KRT6A";.
|
ExPASy Home page
SIB Switzerland
