Transglutaminase 1

Alternative Names

  • TGM1
  • Transglutaminase, Keratinocyte
  • TGK
  • Transglutaminase, Epidermal Type I

Associated Diseases

Ichthyosis, Lamellar, 1
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OMIM Number

190195

NCBI Gene ID

7051

Uniprot ID

P22735

Length

15,319 bases

No. of Exons

15

No. of isoforms

2

Protein Name

Protein-glutamine gamma-glutamyltransferase K

Molecular Mass

89787 Da

Amino Acid Count

817

Genomic Location

chr14:24,249,114-24,264,432

Gene Map Locus
14q11.2

Description

Transglutaminases, including the product of the TGM1 gene, catalyze formation of epsilon-(gamma-glutamyl)-lysine crosslinks in proteins and stabilize biological structures. In the epidermis, TGM1 is required for the formation of the cross-linked envelope. Point mutations in the TGM1 gene cause deficits in enzyme activity. TGM1 is normally expressed in the suprabasal cells of stratifying epithelia such as epidermis, the upper digestive tract, the female lower genital tract and in the endometrial epithelium late in pregnancy. It is also expressed as a result of squamous metaplasia in the trachea induced by vitamin A deprivation and in a number of epithelial cell types, including those from bladder and endometrium, induced by culture on plastic.

Molecular Genetics

One of two major regions, at -1.5 kb in the distal promoter, contains a consensus AP1 binding site, and the other region, in the proximal promoter at -0.45 kb, contains a CRE-like binding site.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000359.3:c.1085T>GUnited Arab EmiratesNC_000014.9:g.24259149A>CLikely PathogenicIchthyosis, Lamellar, 1NG_007150.2:g.9018T>G; NM_000359.3:c.1085T>G; NP_000350.1:p.Leu362Arg
NM_000359.3:c.398_407dupSaudi Arabiachr14:24261796-24261805PathogenicPathogenicIchthyosis, Lamellar, 1NG_007150.2:g.6362_6371dup; NM_000359.3:c.398_407dup; NP_000350.1:p.Tyr136Ter1057517836372530
NM_000359.3:c.428G>AEgyptchr14:24261775PathogenicPathogenicIchthyosis, Lamellar, 1NG_007150.2:g.6392G>A; NM_000359.3:c.428G>A; NP_000350.1:p.Arg143His12191871912481
NM_000359.3:c.877-2A>GEgyptchr14:24259813PathogenicPathogenicIchthyosis, Lamellar, 1NG_007150.2:g.8354A>G; NM_000359.3:c.877-2A>G142634031279911
NM_000359.3:c.975_976CT[1]Saudi Arabia14:24259711-24259712PathogenicPathogenicIchthyosis, Lamellar, 1NG_007150.2:g.8454_8455CT[1]; NM_000359.3:c.975_976CT[1]; NP_000350.1:p.Ser326fs786205485191044
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