[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT).
TISSUE=Foreskin;
DOI=10.1074/jbc.273.6.3452; PubMed=9452468 [NCBI, ExPASy, EBI, Israel, Japan]
Aeschlimann D.,
Koeller M.K.,
Allen-Hoffmann B.L.,
Mosher D.F.;
"Isolation of a cDNA encoding a novel member of the transglutaminase gene family from human keratinocytes. Detection and identification of transglutaminase gene products based on reverse transcription-polymerase chain reaction with degenerate primers.";
J. Biol. Chem. 273:3452-3460(1998).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-67 AND GLY-352.
DOI=10.1074/jbc.M102553200; PubMed=11390390 [NCBI, ExPASy, EBI, Israel, Japan]
Grenard P.,
Bates M.K.,
Aeschlimann D.;
"Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z.";
J. Biol. Chem. 276:33066-33078(2001).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
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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[4]
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PROTEIN SEQUENCE OF 2-16, SUBCELLULAR LOCATION, ACETYLATION AT ALA-2, INDUCTION BY TPA AND CALCIUM, AND MASS SPECTROMETRY.
DOI=10.1007/s00726-004-0093-5; PubMed=15290349 [NCBI, ExPASy, EBI, Israel, Japan]
Rufini A.,
Vilbois F.,
Paradisi A.,
Oddi S.,
Tartaglione R.,
Leta A.,
Bagetta G.,
Guerrieri P.,
Finazzi-Agro' A.,
Melino G.,
Candi E.;
"Transglutaminase 5 is acetylated at the N-terminal end.";
Amino Acids 26:425-430(2004).
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[5]
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VARIANT APSS CYS-113, VARIANT MET-109, CHARACTERIZATION OF VARIANT APSS CYS-113, AND CHARACTERIZATION OF VARIANT MET-109.
DOI=10.1086/497707; PubMed=16380904 [NCBI, ExPASy, EBI, Israel, Japan]
Cassidy A.J.,
van Steensel M.A.M.,
Steijlen P.M.,
van Geel M.,
van der Velden J.,
Morley S.M.,
Terrinoni A.,
Melino G.,
Candi E.,
McLean W.H.I.;
"A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.";
Am. J. Hum. Genet. 77:909-917(2005).
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- FUNCTION: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes.
- CATALYTIC ACTIVITY: Protein glutamine + alkylamine = protein N5-alkylglutamine + NH3.
- COFACTOR: Binds 1 calcium ion per subunit (By similarity).
- SUBCELLULAR LOCATION: Cytoplasm. Note=Associated with intermediate filaments.
- ALTERNATIVE PRODUCTS:
2 named isoforms [FASTA] produced by alternative splicing.
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| Name | Short |
| Isoform ID | O43548-2 |
| Features which should be applied to build the isoform sequence: VSP_006415. |
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- TISSUE SPECIFICITY: Expressed in foreskin keratinocytes.
- INDUCTION: By tetradecanoylphorbolacetate (TPA) and calcium in NHEK cells.
- DISEASE: Defects in TGM5 are a cause of peeling skin syndrome acral type (APSS) [MIM:609796, 270300]. Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the continuous shedding of the outer layers of the epidermis from birth and throughout life. In some cases of PSS, skin peeling is accompanied by erythema, vesicular lesions, or, in rare cases, other ectodermal features, like fragile hair and nail abnormalities. Two main subtypes, noninflammatory type A and inflammatory type B, have been suggested. However, it is clear from the dermatology literature that there are additional subtypes. In some families, an acral form of PSS (APSS) has been reported, in which skin peeling is strictly limited to the dorsa of the hands and feet, and, again, ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction.
- SIMILARITY: Belongs to the transglutaminase superfamily. Transglutaminase family.
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