Keratinocyte transglutaminase

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TGM1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTGM1, ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK, transglutaminase 1
External IDsOMIM: 190195 MGI: 98730 HomoloGene: 306 GeneCards: TGM1
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for TGM1
Genomic location for TGM1
Band14q12Start24,249,114 bp[1]
End24,264,432 bp[1]
RNA expression pattern
PBB GE TGM1 206008 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000359

NM_001161714
NM_001161715
NM_019984

RefSeq (protein)

NP_000350

NP_001155186
NP_001155187
NP_064368

Location (UCSC)Chr 14: 24.25 – 24.26 MbChr 14: 55.7 – 55.71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein-glutamine gamma-glutamyltransferase K is an enzyme that in humans is encoded by the TGM1 gene.[5][6]

Keratinocyte transglutaminase is a transglutaminase enzyme.

Pathology[edit]

A deficiency is associated with ichthyosis lamellaris.[7] Epidermal transglutaminase is the autoantigen, in humans, of dermatitis herpetiformis.

See also[edit]

References[edit]

  1. ^ a b c ENSG00000285348 GRCh38: Ensembl release 89: ENSG00000092295, ENSG00000285348 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022218 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Grenard P, Bates MK, Aeschlimann D (Aug 2001). "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 (35): 33066–78. doi:10.1074/jbc.M102553200. PMID 11390390. 
  6. ^ "Entrez Gene: TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)". 
  7. ^ Hennies HC, Küster W, Wiebe V, Krebsová A, Reis A (1998). "Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis". Am. J. Hum. Genet. 62 (5): 1052–61. doi:10.1086/301818. PMC 1377076Freely accessible. PMID 9545389. 

Further reading[edit]

External links[edit]