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    TGM1 transglutaminase 1 [ Homo sapiens (human) ]

    Gene ID: 7051, updated on 10-Dec-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24249114..24263177, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18447487..18461522, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. Marukian NV, et al. JAMA Dermatol, 2017 Jun 1. PMID 28403434, Free PMC Article
    2. Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. Hackett BC, et al. Br J Dermatol, 2010 Feb 1. PMID 19863506
    3. Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. Esposito G, et al. J Dermatol Sci, 2009 Aug. PMID 19556108
    4. Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis. Numata S, et al. Exp Dermatol, 2016 Aug. PMID 26990434
    5. IgA anti-epidermal transglutaminase antibodies in dermatitis herpetiformis and pediatric celiac disease. Jaskowski TD, et al. J Invest Dermatol, 2009 Nov. PMID 19516268

    See all (183) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transglutaminase 1: Emerging Functions beyond Skin.
      Title: Transglutaminase 1: Emerging Functions beyond Skin.
    2. TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis upon LKB1 inactivation.
      Title: TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis upon LKB1 inactivation.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (86)

    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)

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in keratinocyte differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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