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TGM5 transglutaminase 5 [ Homo sapiens (human) ]

Gene ID: 9333, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See TGM5 in Genome Data Viewer
Location:
15q15.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43232590..43266928, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41039883..41074220, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43524788..43559126, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9310 Neighboring gene cyclin D1 binding protein 1 Neighboring gene Sharpr-MPRA regulatory region 15360 Neighboring gene erythrocyte membrane protein band 4.2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9311 Neighboring gene ATP synthase peripheral stalk subunit d pseudogene 1 Neighboring gene transglutaminase 7 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:43589862-43590498

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Acral peeling skin syndrome resulting from mutations in TGM5. Cañueto J, et al. J Eur Acad Dermatol Venereol, 2016 Mar. PMID 25510201
  2. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Cassidy AJ, et al. Am J Hum Genet, 2005 Dec. PMID 16380904, Free PMC Article
  3. Inactive and highly active, proteolytically processed transglutaminase-5 in epithelial cells. Pietroni V, et al. J Invest Dermatol, 2008 Dec. PMID 18509357
  4. A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. Kharfi M, et al. J Invest Dermatol, 2009 Oct. PMID 19440220
  5. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. Kiritsi D, et al. J Invest Dermatol, 2010 Jun. PMID 20164844

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
    Title: TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
  8. 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.
  9. 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.
  10. 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
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EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC141907

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 IEA
Inferred from Electronic Annotation
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
NP_963925.2
XP_011520532.1
XP_054235200.1

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

  1. NG_016124.1 RefSeqGene

    Range
    4930..39268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    41039883..41074220 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379225.1 → XP_054235200.1  protein-glutamine gamma-glutamyltransferase 5 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43548.4 GenPept UniProtKB/Swiss-Prot:O43548

Gene LinkOut

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