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DIO1 (iodothyronine deiodinase 1)

Identity

Alias_namesTXDI1
Other alias5DI
HGNC (Hugo) DIO1
LocusID (NCBI) 1733
Atlas_Id 40308
Location 1p32.3  [Link to chromosome band 1p32]
Location_base_pair Starts at 53894187 and ends at 53911086 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)
LOC100507412 (-) / DIO1 (1p32.3)

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

 


External links

Nomenclature
HGNC (Hugo)DIO1   2883
Cards
Entrez_Gene (NCBI)DIO1  1733  iodothyronine deiodinase 1
Aliases5DI; TXDI1
GeneCards (Weizmann)DIO1
Ensembl hg19 (Hinxton)ENSG00000211452 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000211452 [Gene_View]  chr1:53894187-53911086 [Contig_View]  DIO1 [Vega]
ICGC DataPortalENSG00000211452
TCGA cBioPortalDIO1
AceView (NCBI)DIO1
Genatlas (Paris)DIO1
WikiGenes1733
SOURCE (Princeton)DIO1
Genetics Home Reference (NIH)DIO1
Genomic and cartography
GoldenPath hg38 (UCSC)DIO1  -     chr1:53894187-53911086 +  1p32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DIO1  -     1p32.3   [Description]    (hg19-Feb_2009)
EnsemblDIO1 - 1p32.3 [CytoView hg19]  DIO1 - 1p32.3 [CytoView hg38]
Mapping of homologs : NCBIDIO1 [Mapview hg19]  DIO1 [Mapview hg38]
OMIM147892   
Gene and transcription
Genbank (Entrez)AK290780 AW294928 AY560374 AY560375 AY560376
RefSeq transcript (Entrez)NM_000792 NM_001039715 NM_001039716 NM_001324316 NM_213593
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DIO1
Cluster EST : UnigeneHs.251415 [ NCBI ]
CGAP (NCI)Hs.251415
Alternative Splicing GalleryENSG00000211452
Gene ExpressionDIO1 [ NCBI-GEO ]   DIO1 [ EBI - ARRAY_EXPRESS ]   DIO1 [ SEEK ]   DIO1 [ MEM ]
Gene Expression Viewer (FireBrowse)DIO1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1733
GTEX Portal (Tissue expression)DIO1
Human Protein AtlasENSG00000211452-DIO1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49895   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49895  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49895
Splice isoforms : SwissVarP49895
Catalytic activity : Enzyme1.21.99.4 [ Enzyme-Expasy ]   1.21.99.41.21.99.4 [ IntEnz-EBI ]   1.21.99.4 [ BRENDA ]   1.21.99.4 [ KEGG ]   
PhosPhoSitePlusP49895
Domaine pattern : Prosite (Expaxy)T4_DEIODINASE (PS01205)   
Domains : Interpro (EBI)Iodothyronine_deiodinase    Iodothyronine_deiodinase_AS    Iodothyronine_deiodinase_I/III    Thioredoxin-like_fold   
Domain families : Pfam (Sanger)T4_deiodinase (PF00837)   
Domain families : Pfam (NCBI)pfam00837   
Conserved Domain (NCBI)DIO1
DMDM Disease mutations1733
Blocks (Seattle)DIO1
SuperfamilyP49895
Human Protein Atlas [tissue]ENSG00000211452-DIO1 [tissue]
Peptide AtlasP49895
HPRD01002
IPIIPI00028634   IPI00412686   IPI00451421   IPI00514323   IPI00552076   IPI00451420   IPI00515078   IPI00552688   IPI00451418   IPI00977200   IPI01022979   IPI00979297   IPI00981230   IPI00978603   
Protein Interaction databases
DIP (DOE-UCLA)P49895
IntAct (EBI)P49895
FunCoupENSG00000211452
BioGRIDDIO1
STRING (EMBL)DIO1
ZODIACDIO1
Ontologies - Pathways
QuickGOP49895
Ontology : AmiGOthyroxine 5'-deiodinase activity  endoplasmic reticulum membrane  plasma membrane  thyroid hormone generation  selenium binding  integral component of membrane  hormone biosynthetic process  oxidation-reduction process  
Ontology : EGO-EBIthyroxine 5'-deiodinase activity  endoplasmic reticulum membrane  plasma membrane  thyroid hormone generation  selenium binding  integral component of membrane  hormone biosynthetic process  oxidation-reduction process  
Pathways : KEGGThyroid hormone signaling pathway   
NDEx NetworkDIO1
Atlas of Cancer Signalling NetworkDIO1
Wikipedia pathwaysDIO1
Orthology - Evolution
OrthoDB1733
GeneTree (enSembl)ENSG00000211452
Phylogenetic Trees/Animal Genes : TreeFamDIO1
HOVERGENP49895
HOGENOMP49895
Homologs : HomoloGeneDIO1
Homology/Alignments : Family Browser (UCSC)DIO1
Gene fusions - Rearrangements
Tumor Fusion PortalDIO1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDIO1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DIO1
dbVarDIO1
ClinVarDIO1
1000_GenomesDIO1 
Exome Variant ServerDIO1
ExAC (Exome Aggregation Consortium)ENSG00000211452
GNOMAD BrowserENSG00000211452
Genetic variants : HAPMAP1733
Genomic Variants (DGV)DIO1 [DGVbeta]
DECIPHERDIO1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDIO1 
Mutations
ICGC Data PortalDIO1 
TCGA Data PortalDIO1 
Broad Tumor PortalDIO1
OASIS PortalDIO1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDIO1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDIO1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DIO1
DgiDB (Drug Gene Interaction Database)DIO1
DoCM (Curated mutations)DIO1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DIO1 (select a term)
intoGenDIO1
Cancer3DDIO1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147892   
Orphanet
DisGeNETDIO1
MedgenDIO1
Genetic Testing Registry DIO1
NextProtP49895 [Medical]
TSGene1733
GENETestsDIO1
Target ValidationDIO1
Huge Navigator DIO1 [HugePedia]
snp3D : Map Gene to Disease1733
BioCentury BCIQDIO1
ClinGenDIO1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1733
Chemical/Pharm GKB GenePA27337
Clinical trialDIO1
Miscellaneous
canSAR (ICR)DIO1 (select the gene name)
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDIO1
EVEXDIO1
GoPubMedDIO1
iHOPDIO1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 20:34:04 CET 2017

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