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TGM1 transglutaminase 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000359 Homo sapiens transglutaminase 1 (TGM1), mRNA. GenEZ ORF Cloning In-stock $809.00 $760.00 15

*Business Day

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Gene Symbol TGM1
Entrez Gene ID 7051
Full Name transglutaminase 1
Synonyms ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q11.2

Summary The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008].
Disorder

MIM: 190195

Ichthyosis, lamellar, autosomal recessive, 242300 (3); Ichthyosiform

mRNA Protein Product Sequence Price Select
NM_000359, 110611244 NP_000350, 4507475 protein-glutamine gamma-glutamyltransferase K ORF Sequence $660.00
Homo sapiens (human)TGM1NP_000350.1
Pan troglodytes (chimpanzee)TGM1XP_001169496.3
Macaca mulatta (Rhesus monkey)TGM1XP_001113577.1
Canis lupus familiaris (dog)TGM1NP_001003079.1
Bos taurus (cattle)TGM1NP_001010991.1
Mus musculus (house mouse)Tgm1NP_001155187.1
Rattus norvegicus (Norway rat)Tgm1NP_113847.1
Danio rerio (zebrafish)LOC100334173XP_002665624.2
Danio rerio (zebrafish)tgm1l4NP_001025267.1
Danio rerio (zebrafish)LOC793448XP_001331914.1
Danio rerio (zebrafish)si:ch1073-138d10.2XP_005169495.1
Danio rerio (zebrafish)tgm1l1XP_694950.3
Danio rerio (zebrafish)LOC100535918XP_003201279.2
Danio rerio (zebrafish)tgm1l2XP_001332075.5
Drosophila melanogaster (fruit fly)TgNP_609174.1
Xenopus (Silurana) tropicalis (western clawed frog)tgm1XP_002939073.1
Process
IDNameEvidence
GO:0006464cellular protein modification processNAS
GO:0009887organ morphogenesisIEA
GO:0018149peptide cross-linkingIEA
GO:0030216keratinocyte differentiationIDA
GO:0031424keratinizationIEA
GO:0043163cell envelope organizationTAS
Component
IDNameEvidence
GO:0001533cornified envelopeTAS
GO:0005913cell-cell adherens junctionIEA
GO:0031224intrinsic component of membraneIDA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0003810protein-glutamine gamma-glutamyltransferase activityIDA
GO:0005515protein bindingIPI
GO:0046872metal ion bindingIEA
GeneCards TGM1
PDB 2XZZ
UniProt P22735
Vega OTTHUMG00000029329
MIM 190195
Ensembl ENSG00000092295
HGNC 11777
HPRD 01824

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the TGM1 gene?

The TGM1 gene provides instructions for making an enzyme called transglutaminase-1. This enzyme is found in cells that make up the outermost layer of the skin (the epidermis). The transglutaminase-1 enzyme is involved in the formation of the cornified cell envelope, which is a structure that surrounds skin cells and protects against water loss and infection. The cornified cell envelope is made up of multiple proteins that are linked to one another (crosslinked). The crosslinking of these proteins is facilitated by the transglutaminase-1 enzyme.

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