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TGM1 (transglutaminase 1)

Identity

Alias (NCBI)ARCI1
ICR2
KTG
LI
LI1
TGASE
TGK
HGNC (Hugo) TGM1
HGNC Alias symbTGASE
TGK
LI
LI1
HGNC Alias nameK polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase
HGNC Previous nameICR2
HGNC Previous nametransglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
LocusID (NCBI) 7051
Atlas_Id 46325
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 24249114 and ends at 24263177 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    transglutaminase 1
AliasesARCI1; ICR2; KTG; LI; 
LI1; TGASE; TGK
GeneCards (Weizmann)TGM1
Ensembl hg19 (Hinxton)ENSG00000092295 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000092295 [Gene_View]  ENSG00000092295 [Sequence]  chr14:24249114-24263177 [Contig_View]  TGM1 [Vega]
ICGC DataPortalENSG00000092295
TCGA cBioPortalTGM1
AceView (NCBI)TGM1
Genatlas (Paris)TGM1
SOURCE (Princeton)TGM1
Genetics Home Reference (NIH)TGM1
Genomic and cartography
GoldenPath hg38 (UCSC)TGM1  -     chr14:24249114-24263177 -  14q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TGM1  -     14q12   [Description]    (hg19-Feb_2009)
GoldenPathTGM1 - 14q12 [CytoView hg19]  TGM1 - 14q12 [CytoView hg38]
ImmunoBaseENSG00000092295
Genome Data Viewer NCBITGM1 [Mapview hg19]  
OMIM190195   242300   
Gene and transcription
Genbank (Entrez)AK291350 AK299436 AK301652 AK315819 AK315828
RefSeq transcript (Entrez)NM_000359
Consensus coding sequences : CCDS (NCBI)TGM1
Gene ExpressionTGM1 [ NCBI-GEO ]   TGM1 [ EBI - ARRAY_EXPRESS ]   TGM1 [ SEEK ]   TGM1 [ MEM ]
Gene Expression Viewer (FireBrowse)TGM1 [ Firebrowse - Broad ]
GenevisibleExpression of TGM1 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
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 ]   [ MEROPS ]
PhosPhoSitePlusP22735
Domaine pattern : Prosite (Expaxy)TRANSGLUTAMINASES (PS00547)   
Domains : Interpro (EBI)Ig-like_fold    Ig_E-set    Papain-like_cys_pep_sf    Transglutaminase-like    Transglutaminase-like_sf    Transglutaminase_animal    Transglutaminase_AS    Transglutaminase_C    Transglutaminase_C_sf    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
PDB (RSDB)2XZZ   
PDB Europe2XZZ   
PDB (PDBSum)2XZZ   
PDB (IMB)2XZZ   
Structural Biology KnowledgeBase2XZZ   
SCOP (Structural Classification of Proteins)2XZZ   
CATH (Classification of proteins structures)2XZZ   
SuperfamilyP22735
AlphaFold pdb e-kbP22735   
Human Protein Atlas [tissue]ENSG00000092295-TGM1 [tissue]
HPRD01824
Protein Interaction databases
DIP (DOE-UCLA)P22735
IntAct (EBI)P22735
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  membrane  peptide cross-linking  peptide cross-linking  keratinocyte differentiation  intrinsic component of membrane  identical protein binding  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  membrane  peptide cross-linking  peptide cross-linking  keratinocyte differentiation  intrinsic component of membrane  identical protein binding  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
Homologs : HomoloGeneTGM1
Homology/Alignments : Family Browser (UCSC)TGM1
Gene fusions - Rearrangements
Fusion : QuiverTGM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTGM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TGM1
dbVarTGM1
ClinVarTGM1
MonarchTGM1
1000_GenomesTGM1 
Exome Variant ServerTGM1
GNOMAD BrowserENSG00000092295
Varsome BrowserTGM1
ACMGTGM1 variants
VarityP22735
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]  
Somatic Mutations in Cancer : COSMIC3DTGM1
Mutations and Diseases : HGMDTGM1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTGM1
DgiDB (Drug Gene Interaction Database)TGM1
DoCM (Curated mutations)TGM1
CIViC (Clinical Interpretations of Variants in Cancer)TGM1
Cancer3DTGM1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM190195    242300   
Orphanet265    20528    20529    11420    14687   
DisGeNETTGM1
MedgenTGM1
Genetic Testing Registry TGM1
NextProtP22735 [Medical]
GENETestsTGM1
Target ValidationTGM1
Huge Navigator TGM1 [HugePedia]
ClinGenTGM1
Clinical trials, drugs, therapy
MyCancerGenomeTGM1
Protein Interactions : CTDTGM1
Pharm GKB GenePA36490
PharosP22735
Clinical trialTGM1
Miscellaneous
canSAR (ICR)TGM1
HarmonizomeTGM1
DataMed IndexTGM1
Probes
Litterature
PubMed145 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTGM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:34:57 CEST 2021

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