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    TGM6 transglutaminase 6 [ Homo sapiens (human) ]

    Gene ID: 343641, updated on 27-Jun-2015
    Official Symbol
    TGM6provided by HGNC
    Official Full Name
    transglutaminase 6provided by HGNC
    Primary source
    HGNC:HGNC:16255
    See related
    Ensembl:ENSG00000166948; HPRD:15495; MIM:613900; Vega:OTTHUMG00000031692
    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
    TG6; TGY; SCA35; TGM3L; dJ734P14.3
    Summary
    The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
    Orthologs
    See TGM6 in Epigenomics, MapViewer
    Location:
    20p13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (2380908..2432753)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2361554..2413399)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC388780 Neighboring gene uncharacterized LOC105372503 Neighboring gene transglutaminase 3 Neighboring gene small nucleolar RNA, C/D box 119 Neighboring gene small nuclear ribonucleoprotein polypeptides B and B1 Neighboring gene zinc finger protein 343

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Spinocerebellar ataxia 35
    MedGen: CN077707 OMIM: 613908 GeneReviews: Hereditary Ataxia Overview
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    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

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein-glutamine gamma-glutamyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    peptide cross-linking IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    protein-glutamine gamma-glutamyltransferase 6
    Names
    protein-glutamine gamma-glutamyltransferase 6
    TGase Y
    TGase-6
    transglutaminase y
    NP_001241663.1
    NP_945345.2

    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_031917.1 RefSeqGene

      Range
      5001..56846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001254734.1NP_001241663.1  protein-glutamine gamma-glutamyltransferase 6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a coding exon in the 3' region compared to variant 1. This results in a frame-shift, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF540970, AL031678
      Consensus CDS
      CCDS58761.1
      UniProtKB/Swiss-Prot
      O95932
      Related
      ENSP00000370831, OTTHUMP00000042917, ENST00000381423, OTTHUMT00000105467
      Conserved Domains (3) summary
      smart00460
      Location:268359
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:5121
      Transglut_N; Transglutaminase family
      pfam00927
      Location:495600
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    2. NM_198994.2NP_945345.2  protein-glutamine gamma-glutamyltransferase 6 isoform 1

      See identical proteins and their annotated locations for NP_945345.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF540969, AL031678
      Consensus CDS
      CCDS13025.1
      UniProtKB/Swiss-Prot
      O95932
      Related
      ENSP00000202625, OTTHUMP00000030010, ENST00000202625, OTTHUMT00000077581
      Conserved Domains (3) summary
      smart00460
      Location:268359
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:5121
      Transglut_N; Transglutaminase family
      pfam00927
      Location:495600
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

      Range
      2380908..2432753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      2361930..2413804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)