TGM5 transglutaminase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TGM5provided by HGNC
Official Full Name: transglutaminase 5provided by HGNC
Primary source: HGNC:HGNC:11781
See related: Ensembl:ENSG00000104055 MIM:603805; AllianceGenome:HGNC:11781
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; TG(X); 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: mouse all
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Genomic context

Location:: 15q15.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (43232590..43266928, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (41039883..41074220, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (43524788..43559126, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Title: Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Acral PSS (APSS) (OMIM 609796), typically non-inflammatory, is confined to distal extremities with localized exfoliation of the epidermis. It is caused by mutations in the TGM5 gene, encoding transglutaminase 5[3] or in the CTSA gene, encoding cystatin A and it is inherited in autosomal recessive pattern
Title: Acral peeling skin syndrome resulting from mutations in TGM5.
We report both European and non-European families with acral peeling skin syndrome carrying mutations in the TGM5 gene. In 5 patients, we found 3 novel mutations: c.1001+2_1001+3del, c.1171G>A and c.1498C>T.
Title: Novel TGM5 mutations in acral peeling skin syndrome.
Data trebles the number of TMG5 mutations and provides further evidence that pCly113Cys is a founder mutation in the European population.
Title: Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
study concludes polymorphisms of TGM5, PPAP2B and PSMA4 are not major contributors tonon-small cell lung cancer susceptibility in never-smoking hinese population, this primarily can be attributed to the significantly distinct genetic background of Asian populations from western populations
Title: Association between TGM5, PPAP2B and PSMA4 polymorphisms and NSCLC in never-smoking Chinese population.
Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
Title: Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
Title: TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
analysis of a recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome
Title: A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.
Title: Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.
TG5 full-length enzyme has very low enzymatic activity, while the 53-kDa proteolytically processed form is highly active.
Title: Inactive and highly active, proteolytically processed transglutaminase-5 in epithelial cells.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acral peeling skin syndrome MedGen: C1853354 OMIM: 609796 GeneReviews: Epidermolysis Bullosa Simplex	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S546 (e-PCR)
- UniSTS:149878

D15S492 (e-PCR)
- UniSTS:473227

RH17542 (e-PCR)
- UniSTS:85647

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-glutamine gamma-glutamyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in peptide cross-linking	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein modification process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein-glutamine gamma-glutamyltransferase 5

Names: TGase X; TGase-5; transglutaminase V; transglutaminase X

NP_004236.1

EC 2.3.2.13

NP_963925.2

EC 2.3.2.13

XP_011520532.1

EC 2.3.2.13

XP_054235200.1

EC 2.3.2.13

NCBI Reference Sequences (RefSeq)

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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

NG_016124.1 RefSeqGene

Range

4930..39268

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004245.4 → NP_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/TrEMBL

Q0II16

Related

ENSP00000220419.8, ENST00000349114.8

Conserved Domains (4) summary

smart00460
Location:188 → 281

TGc; Transglutaminase/protease-like homologues

COG1305
Location:192 → 289

YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]

pfam00868
Location:6 → 63

Transglut_N; Transglutaminase family

pfam00927
Location:538 → 635

Transglut_C; Transglutaminase family, C-terminal ig like domain
NM_201631.4 → NP_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, O43549, Q0VF40, Q9UEZ4

UniProtKB/TrEMBL

Q0II16

Related

ENSP00000220420.5, ENST00000220420.10

Conserved Domains (3) summary

smart00460
Location:270 → 363

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:4 → 121

Transglut_N; Transglutaminase family

pfam00927
Location:620 → 717

Transglut_C; Transglutaminase family, C-terminal ig like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

43232590..43266928 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011522230.3 → XP_011520532.1 protein-glutamine gamma-glutamyltransferase 5 isoform X1

Conserved Domains (1) summary

pfam00927
Location:277 → 374

Transglut_C; Transglutaminase family, C-terminal ig like domain