[1]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=1979171 [NCBI, ExPASy, EBI, Israel, Japan]
Phillips M.A.,
Stewart B.E.,
Qin Q.,
Chakravarty R.,
Floyd E.E.,
Jetten A.M.,
Rice R.H.;
"Primary structure of keratinocyte transglutaminase.";
Proc. Natl. Acad. Sci. U.S.A. 87:9333-9337(1990).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Keratinocyte;
DOI=10.1016/0006-291X(91)91651-R; PubMed=1673840 [NCBI, ExPASy, EBI, Israel, Japan]
Yamanishi K.,
Liew F.M.,
Konishi K.,
Yasuno H.,
Doi H.,
Hirano J.,
Fukushima S.;
"Molecular cloning of human epidermal transglutaminase cDNA from keratinocytes in culture.";
Biochem. Biophys. Res. Commun. 175:906-913(1991).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=1670769 [NCBI, ExPASy, EBI, Israel, Japan]
Kim H.C.,
Idler W.W.,
Kim I.-G.,
Han J.H.,
Chung S.-I.,
Steinert P.M.;
"The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones.";
J. Biol. Chem. 266:536-539(1991).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Placenta;
PubMed=1346394 [NCBI, ExPASy, EBI, Israel, Japan]
Phillips M.A.,
Stewart B.E.,
Rice R.H.;
"Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function.";
J. Biol. Chem. 267:2282-2286(1992).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=1348508 [NCBI, ExPASy, EBI, Israel, Japan]
Kim I.-G.,
McBride O.W.,
Wang M.,
Kim S.-Y.,
Idler W.W.,
Steinert P.M.;
"Structure and organization of the human transglutaminase 1 gene.";
J. Biol. Chem. 267:7710-7717(1992).
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[6]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Placenta;
PubMed=1381356 [NCBI, ExPASy, EBI, Israel, Japan]
Yamanishi K.,
Inazawa J.,
Liew F.,
Nonomura K.,
Ariyama T.,
Yasuno H.,
Abe T.,
Doi H.,
Hirano J.,
Fukushima S.;
"Structure of the gene for human transglutaminase 1.";
J. Biol. Chem. 267:17858-17863(1992).
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[7]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Placenta;
PubMed=1350092 [NCBI, ExPASy, EBI, Israel, Japan]
Polakowska R.R.,
Eickbush T.,
Falciano V.,
Razvi F.,
Goldsmith L.A.;
"Organization and evolution of the human epidermal keratinocyte transglutaminase I gene.";
Proc. Natl. Acad. Sci. U.S.A. 89:4476-4480(1992).
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[8]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Skin;
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).
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[9]
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NUCLEOTIDE SEQUENCE [MRNA] OF 6-551.
DOI=10.1111/1523-1747.ep12464554; PubMed=1704039 [NCBI, ExPASy, EBI, Israel, Japan]
Polakowska R.,
Herting E.,
Goldsmith L.A.;
"Isolation of cDNA for human epidermal type I transglutaminase.";
J. Invest. Dermatol. 96:285-288(1991).
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[10]
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NUCLEOTIDE SEQUENCE OF 375-817.
TISSUE=Skin;
DOI=10.1111/1523-1747.ep12611394; PubMed=1351505 [NCBI, ExPASy, EBI, Israel, Japan]
Schroeder W.,
Thacher S.,
Stewart-Galetka S.,
Annarella M.,
Chema D.,
Sicliano M.,
Davies P.,
Tang H.Y.,
Sowa B.,
Duvic M.;
"Type I keratinocyte transglutaminase: expression in human skin and psoriasis.";
J. Invest. Dermatol. 99:27-34(1992).
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[11]
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VARIANTS LI1 TYR-42 AND GLN-323.
PubMed=7824952 [NCBI, ExPASy, EBI, Israel, Japan]
Huber M.,
Rettler I.,
Bernasconi K.,
Frenk E.,
Lavrijsen S.P.M.,
Ponec M.,
Bon A.,
Lautenschlager S.,
Schorderet D.F.,
Hohl D.;
"Mutations of keratinocyte transglutaminase in lamellar ichthyosis.";
Science 267:525-528(1995).
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[12]
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VARIANTS LI1 HIS-142 AND HIS-143.
DOI=10.1038/ng0395-279; PubMed=7773290 [NCBI, ExPASy, EBI, Israel, Japan]
Russell L.J.,
Digiovanna J.J.,
Rogers G.R.,
Steinert P.M.,
Hashem N.,
Compton J.G.,
Bale S.J.;
"Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.";
Nat. Genet. 9:279-283(1995).
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[13]
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VARIANTS LI1/NCIE HIS-142; CYS-143; SER-218; LEU-379 AND LEU-396.
PubMed=9326318 [NCBI, ExPASy, EBI, Israel, Japan]
Laiho E.,
Ignatius J.,
Mikkola H.,
Yee V.C.,
Teller D.C.,
Niemi K.-M.,
Saarialho-Kere U.,
Kere J.,
Palotie A.;
"Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.";
Am. J. Hum. Genet. 61:529-538(1997).
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[14]
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VARIANT NCIE HIS-389.
DOI=10.1046/j.1365-2133.2001.04037.x; PubMed=11251583 [NCBI, ExPASy, EBI, Israel, Japan]
Akiyama M.,
Takizawa Y.,
Kokaji T.,
Shimizu H.;
"Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.";
Br. J. Dermatol. 144:401-407(2001).
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[15]
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VARIANTS LI1 VAL-102; THR-289 AND TRP-307.
DOI=10.1046/j.0022-202x.2001.01429.x; PubMed=11511296 [NCBI, ExPASy, EBI, Israel, Japan]
Yang J.M.,
Ahn K.S.,
Cho M.O.,
Yoneda K.,
Lee C.H.,
Lee J.H.,
Lee E.S.,
Candi E.,
Melino G.,
Ahvazi B.,
Steinert P.M.;
"Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis.";
J. Invest. Dermatol. 117:214-218(2001).
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- FUNCTION: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum.
- CATALYTIC ACTIVITY: Protein glutamine + alkylamine = protein N5-alkylglutamine + NH3.
- COFACTOR: Binds 1 calcium ion per subunit.
- SUBCELLULAR LOCATION: Membrane; Lipid-anchor.
- PTM: The membrane anchorage region possesses a cluster of five cysteines within which fatty acid(s) may become thioester-linked. It is subject to phorbol ester-stimulated phosphorylation and is hypersensitive to proteolysis, which releases the enzyme in a soluble form.
- DISEASE: Defects in TGM1 are the cause of ichthyosis lamellar type 1 (LI1) [MIM:242300]. LI is a non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections.
- DISEASE: Defects in TGM1 are a cause of non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]. NCIE is a non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume.
- SIMILARITY: Belongs to the transglutaminase superfamily. Transglutaminase family.
- SEQUENCE CAUTION:
- Sequence=AAA61166.1; Type=Frameshift; Positions=16;
- Sequence=M86360; Type=Frameshift; Positions=16, 421, 651;
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=TGM1";.
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