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TGM3 transglutaminase 3 [ Homo sapiens (human) ]

Gene ID: 7053, updated on 20-Jan-2019

Summary

Official Symbol
TGM3provided by HGNC
Official Full Name
transglutaminase 3provided by HGNC
Primary source
HGNC:HGNC:11779
See related
Ensembl:ENSG00000125780 MIM:600238
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
TGE; UHS2
Summary
Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward esophagus (RPKM 758.5) See more
Orthologs

Genomic context

See TGM3 in Genome Data Viewer
Location:
20p13
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (2295967..2341079)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2276613..2321725)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372502 Neighboring gene uncharacterized LOC388780 Neighboring gene uncharacterized LOC105372503 Neighboring gene transglutaminase 6 Neighboring gene small nucleolar RNA, C/D box 119 Neighboring gene small nuclear ribonucleoprotein polypeptides B and B1

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?

Phenotypes

Associated conditions

Description Tests
Uncombable hair syndrome 2
MedGen: C4310649 OMIM: 617251 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
NHGRI GWA Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126249, MGC126250

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
catalytic activity IDA
Inferred from Direct Assay
more info
PubMed 
protein-glutamine gamma-glutamyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
transferase activity, transferring acyl groups TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell envelope organization IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein modification process NAS
Non-traceable Author Statement
more info
PubMed 
hair follicle morphogenesis TAS
Traceable Author Statement
more info
PubMed 
keratinization IEA
Inferred from Electronic Annotation
more info
 
keratinocyte differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
keratinocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
peptide cross-linking IDA
Inferred from Direct Assay
more info
PubMed 
protein tetramerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extrinsic component of cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein-glutamine gamma-glutamyltransferase E
Names
E polypeptide, protein-glutamine-gamma-glutamyltransferase
TG(E)
TGase E
TGase-3
transglutaminase E
NP_003236.3

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_052959.1 RefSeqGene

    Range
    5001..50113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003245.4NP_003236.3  protein-glutamine gamma-glutamyltransferase E

    See identical proteins and their annotated locations for NP_003236.3

    Status: REVIEWED

    Source sequence(s)
    AI216028, BC109075, BC109076, DC373633
    Consensus CDS
    CCDS33435.1
    UniProtKB/Swiss-Prot
    Q08188
    Related
    ENSP00000370867.5, ENST00000381458.5
    Conserved Domains (3) summary
    smart00460
    Location:267357
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:3117
    Transglut_N; Transglutaminase family
    pfam00927
    Location:595692
    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_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    2295967..2341079
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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