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    TGM7 transglutaminase 7 [ Homo sapiens (human) ]

    Gene ID: 116179, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TGM7provided by HGNC
    Official Full Name
    transglutaminase 7provided by HGNC
    Primary source
    HGNC:HGNC:30790
    See related
    Ensembl:ENSG00000159495 MIM:606776; AllianceGenome:HGNC:30790
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TGMZ
    Summary
    Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See TGM7 in Genome Data Viewer
    Location:
    15q15.2-q15.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43276271..43302255, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41083563..41109555, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43568469..43594453, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene transglutaminase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9311 Neighboring gene ATP synthase peripheral stalk subunit d pseudogene 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:43589862-43590498 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:43622679-43623629 Neighboring gene leucine carboxyl methyltransferase 2 Neighboring gene N6-Methyl-AMP deaminase Neighboring gene ReSE screen-validated silencer GRCh37_chr15:43647073-43647266 Neighboring gene zinc finger and SCAN domain containing 29 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6385

    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. Phage-displayed peptide library screening for preferred human substrate peptide sequences for transglutaminase 7. Kuramoto K, et al. Arch Biochem Biophys, 2013 Sep 1. PMID 23876241
    2. HIV-1 gp120-dependent induction of apoptosis in antigen-specific human T cell clones is characterized by 'tissue' transglutaminase expression and prevented by cyclosporin A. Amendola A, et al. FEBS Lett, 1994 Feb 21. PMID 7906657
    3. Human-immunodeficiency-virus transmembrane glycoprotein gp41 is an amino acceptor and donor substrate for transglutaminase in vitro. Mariniello L, et al. Eur J Biochem, 1993 Jul 1. PMID 7688299
    4. Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z. Grenard P, et al. J Biol Chem, 2001 Aug 31. PMID 11390390
    5. A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition. Benslimane Y, et al. Aging Cell, 2021 Apr. PMID 33660365, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Then, using the most efficient peptide, Z3S, we established an in vitro assay system to assess enzymatic activity of TG7.
      Title: Phage-displayed peptide library screening for preferred human substrate peptide sequences for transglutaminase 7.
    Submit: New GeneRIF Correction

    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

    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 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
    		  

    General protein information

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    Preferred Names
    protein-glutamine gamma-glutamyltransferase Z
    Names
    TG(Z)
    TGZ
    TGase Z
    TGase-7
    transglutaminase Z
    NP_443187.1
    XP_016877392.1
    XP_054233236.1

    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.

    mRNA and Protein(s)

    1. NM_052955.3 → NP_443187.1  protein-glutamine gamma-glutamyltransferase Z

      See identical proteins and their annotated locations for NP_443187.1

      Status: VALIDATED

      Source sequence(s)
      AC009852, AF363393, BX112796
      Consensus CDS
      CCDS32213.1
      UniProtKB/Swiss-Prot
      Q96PF1
      Related
      ENSP00000389466.2, ENST00000452443.3
      Conserved Domains (4) summary
      smart00460
      Location:272 → 364
      TGc; Transglutaminase/protease-like homologues
      COG1305
      Location:275 → 370
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam00868
      Location:8 → 122
      Transglut_N; Transglutaminase family
      pfam00927
      Location:608 → 705
      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
      43276271..43302255 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021903.1 → XP_016877392.1  protein-glutamine gamma-glutamyltransferase Z isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      41083563..41109555 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377261.1 → XP_054233236.1  protein-glutamine gamma-glutamyltransferase Z isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PF1.1 GenPept UniProtKB/Swiss-Prot:Q96PF1

    Gene LinkOut

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

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