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    TGM5 transglutaminase 5 [ Homo sapiens (human) ]

    Gene ID: 9333, updated on 9-Jul-2017
    Official Symbol
    TGM5provided by HGNC
    Official Full Name
    transglutaminase 5provided by HGNC
    Primary source
    HGNC:HGNC:11781
    See related
    Ensembl:ENSG00000104055 MIM:603805; Vega:OTTHUMG00000176488
    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; 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]
    Orthologs
    Location:
    15q15.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (43232595..43266857, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43524793..43559055, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 62 Neighboring gene cyclin D1 binding protein 1 Neighboring gene erythrocyte membrane protein band 4.2 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex subunit D pseudogene 1 Neighboring gene transglutaminase 7

    • 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 Jun 15 11:32:44 2016

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Peeling skin syndrome, acral type
    MedGen: C1853354 OMIM: 609796 GeneReviews: Epidermolysis Bullosa Simplex
    Compare labs

    NHGRI GWAS Catalog

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

    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

    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
      Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC141907

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein-glutamine gamma-glutamyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    cellular protein modification process TAS
    Traceable Author Statement
    more info
    PubMed 
    cornification TAS
    Traceable Author Statement
    more info
     
    epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    peptide cross-linking IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    protein-glutamine gamma-glutamyltransferase 5
    Names
    TG(X)
    TGase X
    TGase-5
    transglutaminase V
    transglutaminase X
    NP_004236.1
    NP_963925.2
    XP_011520532.1
    XP_016878218.1

    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
      5001..39263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004245.3NP_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)
      AC068724, AK298479, AW467571, BC119009, CA314704
      Consensus CDS
      CCDS32211.1
      UniProtKB/Swiss-Prot
      O43548
      UniProtKB/TrEMBL
      B4DPS8
      Related
      ENSP00000220419.8, OTTHUMP00000254404, ENST00000349114.8, OTTHUMT00000432258
      Conserved Domains (4) summary
      smart00460
      Location:188281
      TGc; Transglutaminase/protease-like homologues
      COG1305
      Location:192289
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam00868
      Location:663
      Transglut_N; Transglutaminase family
      pfam00927
      Location:538635
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    2. NM_201631.3NP_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)
      AC068724, AK298479, AW467571, BC119009, CA314704
      Consensus CDS
      CCDS32212.1
      UniProtKB/Swiss-Prot
      O43548
      UniProtKB/TrEMBL
      B4DPS8
      Related
      ENSP00000220420.5, OTTHUMP00000254403, ENST00000220420.9, OTTHUMT00000432257
      Conserved Domains (4) summary
      smart00460
      Location:270363
      TGc; Transglutaminase/protease-like homologues
      COG1305
      Location:274371
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam00868
      Location:6121
      Transglut_N; Transglutaminase family
      pfam00927
      Location:620717
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      43232595..43266857 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522230.2XP_011520532.1  protein-glutamine gamma-glutamyltransferase 5 isoform X1

      Conserved Domains (1) summary
      pfam00927
      Location:277374
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    2. XM_017022729.1XP_016878218.1  protein-glutamine gamma-glutamyltransferase 5 isoform X1

      Conserved Domains (1) summary
      pfam00927
      Location:277374
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      43643581..43677843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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