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Tgm6 transglutaminase 6 [ Mus musculus (house mouse) ]

Gene ID: 241636, updated on 18-Sep-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. Predicted to be involved in peptide cross-linking. 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, Apr 2022]
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 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 (18) 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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