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TGM1 transglutaminase 1 [ Homo sapiens (human) ]

Gene ID: 7051, updated on 15-Apr-2019

Summary

Official Symbol
TGM1provided by HGNC
Official Full Name
transglutaminase 1provided by HGNC
Primary source
HGNC:HGNC:11777
See related
Ensembl:ENSG00000092295 MIM:190195
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LI; KTG; LI1; TGK; ICR2; ARCI1; TGASE
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]
Expression
Restricted expression toward esophagus (RPKM 291.1) See more
Orthologs

Genomic context

See TGM1 in Genome Data Viewer
Location:
14q12
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (24249114..24263210, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24718159..24733115, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene guanosine monophosphate reductase 2 Neighboring gene TERF1 interacting nuclear factor 2 Neighboring gene TGM1 promoter region Neighboring gene Rab geranylgeranyltransferase subunit alpha Neighboring gene uncharacterized LOC102725044 Neighboring gene dehydrogenase/reductase 1 Neighboring gene nonconserved acetylation island sequence 81 enhancer

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Cyclosporin (CsA) treatment prevents gp120-dependent induction of apoptosis by blocking the activation of Ca(2+)-dependent effector elements such as transglutaminase (TG) proteins PubMed
Envelope transmembrane glycoprotein gp41 env The HIV-1 transmembrane glycoprotein gp41 is an amino acceptor and donor substrate for transglutaminase in vitro; soluble CD4 can block the transglutaminase-catalyzed incorporation of the polyamine spermidine into HIV-1 gp41 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
    Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-glutamine gamma-glutamyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell envelope organization TAS
Traceable Author Statement
more info
PubMed 
cellular protein modification process NAS
Non-traceable Author Statement
more info
PubMed 
cornification TAS
Traceable Author Statement
more info
 
keratinocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
peptide cross-linking IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cornified envelope TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
intrinsic component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
protein-glutamine gamma-glutamyltransferase K
Names
K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase
TG(K)
TGase K
TGase-1
epidermal TGase
transglutaminase 1 isoform
transglutaminase K
transglutaminase, keratinocyte
NP_000350.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007150.1 RefSeqGene

    Range
    4957..19053
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000359.3NP_000350.1  protein-glutamine gamma-glutamyltransferase K

    See identical proteins and their annotated locations for NP_000350.1

    Status: REVIEWED

    Source sequence(s)
    AL096870
    Consensus CDS
    CCDS9622.1
    UniProtKB/Swiss-Prot
    P22735
    Related
    ENSP00000206765.6, ENST00000206765.11
    Conserved Domains (3) summary
    smart00460
    Location:371462
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:111226
    Transglut_N; Transglutaminase family
    pfam00927
    Location:579683
    Transglut_C; Transglutaminase family, C-terminal ig like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    24249114..24263210 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p12 PATCHES

    Range
    550092..564188 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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