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TGM6 transglutaminase 6 [ Homo sapiens (human) ]

Gene ID: 343641, updated on 29-Aug-2017
Official Symbol
TGM6provided by HGNC
Official Full Name
transglutaminase 6provided by HGNC
Primary source
HGNC:HGNC:16255
See related
Ensembl:ENSG00000166948 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
Location:
20p13
Exon count:
13
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Spinocerebellar ataxia 35
MedGen: C3888031 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
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
    ENSP00000370831.1, OTTHUMP00000042917, ENST00000381423.1, OTTHUMT00000105467
    Conserved Domains (3) summary
    smart00460
    Location:268359
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:5117
    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
    ENSP00000202625.2, OTTHUMP00000030010, ENST00000202625.6, OTTHUMT00000077581
    Conserved Domains (3) summary
    smart00460
    Location:268359
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:5117
    Transglut_N; Transglutaminase family
    pfam00927
    Location:495600
    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_000020.11 Reference GRCh38.p7 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)
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