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    TGM1 transglutaminase 1 [ Homo sapiens (human) ]

    Gene ID: 7051, updated on 19-Feb-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_000359.3NP_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:371462
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:111226
      Transglut_N; Transglutaminase family
      pfam00927
      Location:579683
      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)