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TGM1 transglutaminase 1 [ Homo sapiens (human) ]

Gene ID: 7051, updated on 7-Apr-2024

Summary

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Official Symbol
TGM1provided by HGNC
Official Full Name
transglutaminase 1provided by HGNC
Primary source
HGNC:HGNC:11777
See related
Ensembl:ENSG00000092295 MIM:190195; AllianceGenome:HGNC:11777
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
mouse all
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Genomic context

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See TGM1 in Genome Data Viewer
Location:
14q12
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24249114..24263177, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18447487..18461522, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24718320..24732383, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24701437-24702302 Neighboring gene guanosine monophosphate reductase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24710068-24710597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8201 Neighboring gene Sharpr-MPRA regulatory region 7959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8202 Neighboring gene TERF1 interacting nuclear factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24727660-24728357 Neighboring gene TGM1 promoter region Neighboring gene Rab geranylgeranyltransferase subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8209 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:24747863-24748093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8210 Neighboring gene NOP9 nucleolar protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8213 Neighboring gene dehydrogenase/reductase 1 Neighboring gene nonconserved acetylation island sequence 81 enhancer

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
  • 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. Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family. Almazroea A, et al. Medicina (Kaunas), 2023 Jan 2. PMID 36676727, Free PMC Article
  2. Deep Association between Transglutaminase 1 and Tissue Eosinophil Infiltration Leading to Nasal Polyp Formation and/or Maintenance with Fibrin Polymerization in Chronic Rhinosinusitis with Nasal Polyps. Sonoyama T, et al. Int J Mol Sci, 2022 Oct 26. PMID 36361742, Free PMC Article
  3. A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen. Landegren N, et al. Proc Natl Acad Sci U S A, 2021 Dec 21. PMID 34911754, Free PMC Article
  4. Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein. Nasser KK, et al. J Biomol Struct Dyn, 2021 Sep. PMID 32597326
  5. High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect. González-Del Carmen M, et al. Int J Dermatol, 2020 Aug. PMID 32436339

See all (165) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A pan-cancer analysis of the oncogenic and immunological roles of transglutaminase 1 (TGM1) in human cancer.
    Title: A pan-cancer analysis of the oncogenic and immunological roles of transglutaminase 1 (TGM1) in human cancer.
  2. THBS1 promotes angiogenesis and accelerates ESCC malignant progression by the HIF-1/VEGF signaling pathway.
    Title: THBS1 promotes angiogenesis and accelerates ESCC malignant progression by the HIF-1/VEGF signaling pathway.
  3. Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.
    Title: Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.
  4. Cornification of keratinocytes is associated with differential changes in the catalytic activity and the immunoreactivity of transglutaminase-1.
    Title: Cornification of keratinocytes is associated with differential changes in the catalytic activity and the immunoreactivity of transglutaminase-1.
  5. Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
    Title: Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
  6. Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.
    Title: Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.
  7. Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
    Title: Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
  8. Deep Association between Transglutaminase 1 and Tissue Eosinophil Infiltration Leading to Nasal Polyp Formation and/or Maintenance with Fibrin Polymerization in Chronic Rhinosinusitis with Nasal Polyps.
    Title: Deep Association between Transglutaminase 1 and Tissue Eosinophil Infiltration Leading to Nasal Polyp Formation and/or Maintenance with Fibrin Polymerization in Chronic Rhinosinusitis with Nasal Polyps.
  9. A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen.
    Title: A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen.
  10. Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.
    Title: Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.
Submit: New GeneRIF Correction See all GeneRIFs (84)

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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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
  
enables protein-glutamine gamma-glutamyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell envelope organization TAS
Traceable Author Statement
more info
 PubMed 
involved_in keratinization IEA
Inferred from Electronic Annotation
more info
  
involved_in keratinocyte differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in peptide cross-linking IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptide cross-linking IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein modification process NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cornified envelope TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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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 K
transglutaminase, keratinocyte
NP_000350.1

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_007150.2 RefSeqGene

    Range
    4990..19053
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000359.3 → NP_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
    B4DWR7, P22735, Q197M4
    UniProtKB/TrEMBL
    A8K5N5
    Related
    ENSP00000206765.6, ENST00000206765.11
    Conserved Domains (3) summary
    smart00460
    Location:371 → 462
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:111 → 226
    Transglut_N; Transglutaminase family
    pfam00927
    Location:579 → 683
    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

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    24249114..24263177 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p14 PATCHES

    Range
    550092..564155 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    18447487..18461522 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P22735.4 GenPept UniProtKB/Swiss-Prot:P22735

Gene LinkOut

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