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    Tgm6 transglutaminase 6 [ Mus musculus (house mouse) ]

    Gene ID: 241636, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tgm6provided by MGI
    Official Full Name
    transglutaminase 6provided by MGI
    Primary source
    MGI:MGI:3044321
    See related
    Ensembl:ENSMUSG00000027403 AllianceGenome:MGI:3044321
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    TGY; TGM3L
    Summary
    Enables protein-glutamine gamma-glutamyltransferase activity. Located in cytoplasm. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 35. Orthologous to human TGM6 (transglutaminase 6). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    See Tgm6 in Genome Data Viewer
    Location:
    2 F1; 2 63.19 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (129954336..129996153)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (130112416..130154233)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 24665 Neighboring gene expressed sequence AU015228 Neighboring gene STARR-positive B cell enhancer ABC_E2047 Neighboring gene small nuclear ribonucleoprotein B Neighboring gene transmembrane channel-like gene family 2 Neighboring gene STARR-seq mESC enhancer starr_05689 Neighboring gene STARR-seq mESC enhancer starr_05690

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Identification of a highly reactive substrate peptide for transglutaminase 6 and its use in detecting transglutaminase activity in the skin epidermis. Fukui M, et al. FEBS J, 2013 Mar. PMID 23331848
    2. Transglutaminase 6: a protein associated with central nervous system development and motor function. Thomas H, et al. Amino Acids, 2013 Jan. PMID 21984379, Free PMC Article
    3. Genome-wide association study identifies two risk loci for tuberculosis in Han Chinese. Zheng R, et al. Nat Commun, 2018 Oct 4. PMID 30287856, Free PMC Article
    4. Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis. Guan WJ, et al. Biochem Biophys Res Commun, 2013 Jan 11. PMID 23206699
    5. Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice. Nakagawa N, et al. J Dermatol Sci, 2012 Mar. PMID 22258055

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Localization of mRNA and protein in the mouse identified abundant expression of TG6 in the central nervous system.
      Title: Transglutaminase 6: a protein associated with central nervous system development and motor function.
    2. TG6 is an active enzyme and reacts to glutamine donor substrates in the skin.
      Title: Identification of a highly reactive substrate peptide for transglutaminase 6 and its use in detecting transglutaminase activity in the skin epidermis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3)  1 citation
    • Targeted (1) 

    General gene information

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    Markers

    Homology

    Clone Names

    • A030011P16

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    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 
    enables protein-glutamine gamma-glutamyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein-glutamine gamma-glutamyltransferase 6
    NP_001276676.1
    NP_001276677.1
    NP_001276678.1
    NP_808394.1

    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_001289747.2 → NP_001276676.1  protein-glutamine gamma-glutamyltransferase 6 isoform 2

      See identical proteins and their annotated locations for NP_001276676.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 2, 3 and 4 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL833804
      UniProtKB/TrEMBL
      Q14CG3
      Conserved Domains (2) summary
      smart00460
      Location:45 → 136
      TGc; Transglutaminase/protease-like homologues
      pfam00927
      Location:272 → 377
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    2. NM_001289748.2 → NP_001276677.1  protein-glutamine gamma-glutamyltransferase 6 isoform 2

      See identical proteins and their annotated locations for NP_001276677.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 2, 3 and 4 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL833804
      UniProtKB/TrEMBL
      Q14CG3
      Related
      ENSMUST00000140947.8
      Conserved Domains (2) summary
      smart00460
      Location:45 → 136
      TGc; Transglutaminase/protease-like homologues
      pfam00927
      Location:272 → 377
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    3. NM_001289749.2 → NP_001276678.1  protein-glutamine gamma-glutamyltransferase 6 isoform 2

      See identical proteins and their annotated locations for NP_001276678.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 2, 3 and 4 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL833804
      UniProtKB/TrEMBL
      Q14CG3
      Related
      ENSMUST00000147616.2
      Conserved Domains (2) summary
      smart00460
      Location:45 → 136
      TGc; Transglutaminase/protease-like homologues
      pfam00927
      Location:272 → 377
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    4. NM_177726.5 → NP_808394.1  protein-glutamine gamma-glutamyltransferase 6 isoform 1

      See identical proteins and their annotated locations for NP_808394.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL833804
      Consensus CDS
      CCDS16734.1
      UniProtKB/TrEMBL
      Q6YCI4, Q8BM11
      Related
      ENSMUSP00000028888.5, ENSMUST00000028888.5
      Conserved Domains (4) summary
      smart00460
      Location:268 → 359
      TGc; Transglutaminase/protease-like homologues
      COG1305
      Location:270 → 367
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam00868
      Location:5 → 117
      Transglut_N; Transglutaminase family
      pfam00927
      Location:495 → 600
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      129954336..129996153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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