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TGM1 (transglutaminase 1)

Identity

Alias_namesprotein-glutamine-gamma-glutamyltransferase
ICR2
Alias_symbol (synonym)TGASE
TGK
LI
LI1
Other aliasARCI1
KTG
HGNC (Hugo) TGM1
LocusID (NCBI) 7051
Atlas_Id 46325
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 24249114 and ends at 24263210 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Beckwith-Wiedemann syndrome


External links

Nomenclature
HGNC (Hugo)TGM1   11777
Cards
Entrez_Gene (NCBI)TGM1  7051  transglutaminase 1
AliasesARCI1; ICR2; KTG; LI; 
LI1; TGASE; TGK
GeneCards (Weizmann)TGM1
Ensembl hg19 (Hinxton)ENSG00000092295 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000092295 [Gene_View]  chr14:24249114-24263210 [Contig_View]  TGM1 [Vega]
ICGC DataPortalENSG00000092295
TCGA cBioPortalTGM1
AceView (NCBI)TGM1
Genatlas (Paris)TGM1
WikiGenes7051
SOURCE (Princeton)TGM1
Genetics Home Reference (NIH)TGM1
Genomic and cartography
GoldenPath hg38 (UCSC)TGM1  -     chr14:24249114-24263210 -  14q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TGM1  -     14q12   [Description]    (hg19-Feb_2009)
EnsemblTGM1 - 14q12 [CytoView hg19]  TGM1 - 14q12 [CytoView hg38]
Mapping of homologs : NCBITGM1 [Mapview hg19]  TGM1 [Mapview hg38]
OMIM190195   242300   
Gene and transcription
Genbank (Entrez)AK291350 AK299436 AK301652 AK315819 AK315828
RefSeq transcript (Entrez)NM_000359
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TGM1
Cluster EST : UnigeneHs.508950 [ NCBI ]
CGAP (NCI)Hs.508950
Alternative Splicing GalleryENSG00000092295
Gene ExpressionTGM1 [ NCBI-GEO ]   TGM1 [ EBI - ARRAY_EXPRESS ]   TGM1 [ SEEK ]   TGM1 [ MEM ]
Gene Expression Viewer (FireBrowse)TGM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7051
GTEX Portal (Tissue expression)TGM1
Human Protein AtlasENSG00000092295-TGM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22735   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22735  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22735
Splice isoforms : SwissVarP22735
Catalytic activity : Enzyme2.3.2.13 [ Enzyme-Expasy ]   2.3.2.132.3.2.13 [ IntEnz-EBI ]   2.3.2.13 [ BRENDA ]   2.3.2.13 [ KEGG ]   
PhosPhoSitePlusP22735
Domaine pattern : Prosite (Expaxy)TRANSGLUTAMINASES (PS00547)   
Domains : Interpro (EBI)Gln_gamma-glutamylTfrase_euk    Ig-like_fold    Ig_E-set    Transglutaminase-like    Transglutaminase_AS    Transglutaminase_C    Transglutaminase_N   
Domain families : Pfam (Sanger)Transglut_C (PF00927)    Transglut_core (PF01841)    Transglut_N (PF00868)   
Domain families : Pfam (NCBI)pfam00927    pfam01841    pfam00868   
Domain families : Smart (EMBL)TGc (SM00460)  
Conserved Domain (NCBI)TGM1
DMDM Disease mutations7051
Blocks (Seattle)TGM1
PDB (SRS)2XZZ   
PDB (PDBSum)2XZZ   
PDB (IMB)2XZZ   
PDB (RSDB)2XZZ   
Structural Biology KnowledgeBase2XZZ   
SCOP (Structural Classification of Proteins)2XZZ   
CATH (Classification of proteins structures)2XZZ   
SuperfamilyP22735
Human Protein Atlas [tissue]ENSG00000092295-TGM1 [tissue]
Peptide AtlasP22735
HPRD01824
IPIIPI00305622   IPI01014432   
Protein Interaction databases
DIP (DOE-UCLA)P22735
IntAct (EBI)P22735
FunCoupENSG00000092295
BioGRIDTGM1
STRING (EMBL)TGM1
ZODIACTGM1
Ontologies - Pathways
QuickGOP22735
Ontology : AmiGOcornified envelope  protein-glutamine gamma-glutamyltransferase activity  protein-glutamine gamma-glutamyltransferase activity  protein binding  cytosol  plasma membrane  cellular protein modification process  positive regulation of keratinocyte proliferation  peptide cross-linking  keratinocyte differentiation  intrinsic component of membrane  cell envelope organization  positive regulation of cell cycle  metal ion binding  extracellular exosome  cornification  
Ontology : EGO-EBIcornified envelope  protein-glutamine gamma-glutamyltransferase activity  protein-glutamine gamma-glutamyltransferase activity  protein binding  cytosol  plasma membrane  cellular protein modification process  positive regulation of keratinocyte proliferation  peptide cross-linking  keratinocyte differentiation  intrinsic component of membrane  cell envelope organization  positive regulation of cell cycle  metal ion binding  extracellular exosome  cornification  
NDEx NetworkTGM1
Atlas of Cancer Signalling NetworkTGM1
Wikipedia pathwaysTGM1
Orthology - Evolution
OrthoDB7051
GeneTree (enSembl)ENSG00000092295
Phylogenetic Trees/Animal Genes : TreeFamTGM1
HOVERGENP22735
HOGENOMP22735
Homologs : HomoloGeneTGM1
Homology/Alignments : Family Browser (UCSC)TGM1
Gene fusions - Rearrangements
Fusion: Tumor Portal TGM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTGM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TGM1
dbVarTGM1
ClinVarTGM1
1000_GenomesTGM1 
Exome Variant ServerTGM1
ExAC (Exome Aggregation Consortium)ENSG00000092295
GNOMAD BrowserENSG00000092295
Genetic variants : HAPMAP7051
Genomic Variants (DGV)TGM1 [DGVbeta]
DECIPHERTGM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTGM1 
Mutations
ICGC Data PortalTGM1 
TCGA Data PortalTGM1 
Broad Tumor PortalTGM1
OASIS PortalTGM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTGM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTGM1
LOVD (Leiden Open Variation Database)ABCC's LOVD - Leiden Open Variation Database
BioMutasearch TGM1
DgiDB (Drug Gene Interaction Database)TGM1
DoCM (Curated mutations)TGM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TGM1 (select a term)
intoGenTGM1
Cancer3DTGM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM190195    242300   
Orphanet265    20528    20529    11420    14687   
MedgenTGM1
Genetic Testing Registry TGM1
NextProtP22735 [Medical]
TSGene7051
GENETestsTGM1
Target ValidationTGM1
Huge Navigator TGM1 [HugePedia]
snp3D : Map Gene to Disease7051
BioCentury BCIQTGM1
ClinGenTGM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7051
Chemical/Pharm GKB GenePA36490
Clinical trialTGM1
Miscellaneous
canSAR (ICR)TGM1 (select the gene name)
Probes
Litterature
PubMed119 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTGM1
EVEXTGM1
GoPubMedTGM1
iHOPTGM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 13:14:22 CET 2017

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