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TGM5 transglutaminase 5 [ Homo sapiens (human) ]

Gene ID: 9333, updated on 17-Jun-2019

Summary

Official Symbol
TGM5provided by HGNC
Official Full Name
transglutaminase 5provided by HGNC
Primary source
HGNC:HGNC:11781
See related
Ensembl:ENSG00000104055 MIM:603805
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
TGX; PSS2; TGM6; TGMX; TGASE5; TGASEX
Summary
This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]
Expression
Biased expression in skin (RPKM 7.6), esophagus (RPKM 3.4) and 1 other tissue See more
Orthologs

Genomic context

See TGM5 in Genome Data Viewer
Location:
15q15.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (43232590..43266928, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43524793..43559055, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 62 Neighboring gene cyclin D1 binding protein 1 Neighboring gene erythrocyte membrane protein band 4.2 Neighboring gene ATP synthase peripheral stalk subunit d pseudogene 1 Neighboring gene transglutaminase 7

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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Peeling skin syndrome, acral type
MedGen: C1853354 OMIM: 609796 GeneReviews: Epidermolysis Bullosa Simplex
Compare labs

NHGRI GWAS Catalog

Description
Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
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

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

Clone Names

  • MGC141907

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein-glutamine gamma-glutamyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
cornification TAS
Traceable Author Statement
more info
 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
peptide cross-linking IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
protein-glutamine gamma-glutamyltransferase 5
Names
TG(X)
TGase X
TGase-5
transglutaminase V
transglutaminase X
NP_004236.1
NP_963925.2
XP_011520532.1
XP_016878218.1

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_016124.1 RefSeqGene

    Range
    5001..39263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004245.4NP_004236.1  protein-glutamine gamma-glutamyltransferase 5 isoform 2

    See identical proteins and their annotated locations for NP_004236.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2, also referred to as the short form), compared to isoform 1.
    Source sequence(s)
    AC009852, AC068724, AK298479, AW467571, BC119009, CA314704
    Consensus CDS
    CCDS32211.1
    UniProtKB/Swiss-Prot
    O43548
    UniProtKB/TrEMBL
    B4DPS8
    Related
    ENSP00000220419.8, ENST00000349114.8
    Conserved Domains (4) summary
    smart00460
    Location:188281
    TGc; Transglutaminase/protease-like homologues
    COG1305
    Location:192289
    YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
    pfam00868
    Location:663
    Transglut_N; Transglutaminase family
    pfam00927
    Location:538635
    Transglut_C; Transglutaminase family, C-terminal ig like domain
  2. NM_201631.4NP_963925.2  protein-glutamine gamma-glutamyltransferase 5 isoform 1

    See identical proteins and their annotated locations for NP_963925.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC009852, AC068724, AK298479, AW467571, BC119009, CA314704
    Consensus CDS
    CCDS32212.1
    UniProtKB/Swiss-Prot
    O43548
    UniProtKB/TrEMBL
    B4DPS8
    Related
    ENSP00000220420.5, ENST00000220420.9
    Conserved Domains (3) summary
    smart00460
    Location:270363
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:4121
    Transglut_N; Transglutaminase family
    pfam00927
    Location:620717
    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.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    43232590..43266928 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522230.2XP_011520532.1  protein-glutamine gamma-glutamyltransferase 5 isoform X1

    Conserved Domains (1) summary
    pfam00927
    Location:277374
    Transglut_C; Transglutaminase family, C-terminal ig like domain
  2. XM_017022729.1XP_016878218.1  protein-glutamine gamma-glutamyltransferase 5 isoform X1

    Conserved Domains (1) summary
    pfam00927
    Location:277374
    Transglut_C; Transglutaminase family, C-terminal ig like domain
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