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UBE2D1 (ubiquitin conjugating enzyme E2 D1)

Identity

Alias_namesSFT
stimulator of Fe transport
ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)
ubiquitin-conjugating enzyme E2D 1
Alias_symbol (synonym)UbcH5A
UBCH5
UBC4/5
E2(17)KB1
Other aliasUBCH5A
HGNC (Hugo) UBE2D1
LocusID (NCBI) 7321
Atlas_Id 42748
Location 10q21.1  [Link to chromosome band 10q21]
Location_base_pair Starts at 58334979 and ends at 58370753 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BICC1 (10q21.1) / UBE2D1 (10q21.1)CCDC6 (10q21.2) / UBE2D1 (10q21.1)CCDC7 (10p11.22) / UBE2D1 (10q21.1)
TNN (1q25.1) / UBE2D1 (10q21.1)VTI1A (10q25.2) / UBE2D1 (10q21.1)BICC1 10q21.1 / UBE2D1 10q21.1
CCDC6 10q21.2 / UBE2D1 10q21.1

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)UBE2D1   12474
Cards
Entrez_Gene (NCBI)UBE2D1  7321  ubiquitin conjugating enzyme E2 D1
AliasesE2(17)KB1; SFT; UBC4/5; UBCH5; 
UBCH5A
GeneCards (Weizmann)UBE2D1
Ensembl hg19 (Hinxton)ENSG00000072401 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000072401 [Gene_View]  chr10:58334979-58370753 [Contig_View]  UBE2D1 [Vega]
ICGC DataPortalENSG00000072401
TCGA cBioPortalUBE2D1
AceView (NCBI)UBE2D1
Genatlas (Paris)UBE2D1
WikiGenes7321
SOURCE (Princeton)UBE2D1
Genetics Home Reference (NIH)UBE2D1
Genomic and cartography
GoldenPath hg38 (UCSC)UBE2D1  -     chr10:58334979-58370753 +  10q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBE2D1  -     10q21.1   [Description]    (hg19-Feb_2009)
EnsemblUBE2D1 - 10q21.1 [CytoView hg19]  UBE2D1 - 10q21.1 [CytoView hg38]
Mapping of homologs : NCBIUBE2D1 [Mapview hg19]  UBE2D1 [Mapview hg38]
OMIM602961   
Gene and transcription
Genbank (Entrez)AF020761 AF257220 AI566662 AJ272367 AK291901
RefSeq transcript (Entrez)NM_001204880 NM_003338
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBE2D1
Cluster EST : UnigeneHs.129683 [ NCBI ]
CGAP (NCI)Hs.129683
Alternative Splicing GalleryENSG00000072401
Gene ExpressionUBE2D1 [ NCBI-GEO ]   UBE2D1 [ EBI - ARRAY_EXPRESS ]   UBE2D1 [ SEEK ]   UBE2D1 [ MEM ]
Gene Expression Viewer (FireBrowse)UBE2D1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7321
GTEX Portal (Tissue expression)UBE2D1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51668   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51668  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51668
Splice isoforms : SwissVarP51668
PhosPhoSitePlusP51668
Domaine pattern : Prosite (Expaxy)UBIQUITIN_CONJUGAT_1 (PS00183)    UBIQUITIN_CONJUGAT_2 (PS50127)   
Domains : Interpro (EBI)UBQ-conjugat_E2    UBQ-conjugating_AS    UBQ-conjugating_enzyme/RWD   
Domain families : Pfam (Sanger)UQ_con (PF00179)   
Domain families : Pfam (NCBI)pfam00179   
Conserved Domain (NCBI)UBE2D1
DMDM Disease mutations7321
Blocks (Seattle)UBE2D1
PDB (SRS)2C4P    2YHO    3OJ4    3PTF    4AP4    4QPL    5FER   
PDB (PDBSum)2C4P    2YHO    3OJ4    3PTF    4AP4    4QPL    5FER   
PDB (IMB)2C4P    2YHO    3OJ4    3PTF    4AP4    4QPL    5FER   
PDB (RSDB)2C4P    2YHO    3OJ4    3PTF    4AP4    4QPL    5FER   
Structural Biology KnowledgeBase2C4P    2YHO    3OJ4    3PTF    4AP4    4QPL    5FER   
SCOP (Structural Classification of Proteins)2C4P    2YHO    3OJ4    3PTF    4AP4    4QPL    5FER   
CATH (Classification of proteins structures)2C4P    2YHO    3OJ4    3PTF    4AP4    4QPL    5FER   
SuperfamilyP51668
Human Protein AtlasENSG00000072401
Peptide AtlasP51668
HPRD04267
IPIIPI00019930   IPI01018097   
Protein Interaction databases
DIP (DOE-UCLA)P51668
IntAct (EBI)P51668
FunCoupENSG00000072401
BioGRIDUBE2D1
STRING (EMBL)UBE2D1
ZODIACUBE2D1
Ontologies - Pathways
QuickGOP51668
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  ubiquitin ligase complex  protein polyubiquitination  stimulatory C-type lectin receptor signaling pathway  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  ATP binding  nucleoplasm  cytoplasm  cytosol  ubiquitin-dependent protein catabolic process  protein ubiquitination  protein deubiquitination  BMP signaling pathway  anaphase-promoting complex-dependent catabolic process  positive regulation of protein ubiquitination  TRIF-dependent toll-like receptor signaling pathway  Fc-epsilon receptor signaling pathway  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  protein complex  T cell receptor signaling pathway  negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle  positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition  regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle  regulation of transcription from RNA polymerase II promoter in response to hypoxia  ubiquitin conjugating enzyme activity  protein K48-linked ubiquitination  positive regulation of protein polyubiquitination  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  ubiquitin ligase complex  protein polyubiquitination  stimulatory C-type lectin receptor signaling pathway  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  ATP binding  nucleoplasm  cytoplasm  cytosol  ubiquitin-dependent protein catabolic process  protein ubiquitination  protein deubiquitination  BMP signaling pathway  anaphase-promoting complex-dependent catabolic process  positive regulation of protein ubiquitination  TRIF-dependent toll-like receptor signaling pathway  Fc-epsilon receptor signaling pathway  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  protein complex  T cell receptor signaling pathway  negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle  positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition  regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle  regulation of transcription from RNA polymerase II promoter in response to hypoxia  ubiquitin conjugating enzyme activity  protein K48-linked ubiquitination  positive regulation of protein polyubiquitination  
Pathways : BIOCARTANeuroregulin receptor degredation protein-1 Controls ErbB3 receptor recycling [Genes]   
Pathways : KEGGUbiquitin mediated proteolysis    Protein processing in endoplasmic reticulum   
NDEx NetworkUBE2D1
Atlas of Cancer Signalling NetworkUBE2D1
Wikipedia pathwaysUBE2D1
Orthology - Evolution
OrthoDB7321
GeneTree (enSembl)ENSG00000072401
Phylogenetic Trees/Animal Genes : TreeFamUBE2D1
HOVERGENP51668
HOGENOMP51668
Homologs : HomoloGeneUBE2D1
Homology/Alignments : Family Browser (UCSC)UBE2D1
Gene fusions - Rearrangements
Fusion : MitelmanBICC1/UBE2D1 [10q21.1/10q21.1]  [t(10;10)(q21;q21)]  
Fusion : MitelmanCCDC6/UBE2D1 [10q21.2/10q21.1]  [t(10;10)(q21;q21)]  
Fusion : MitelmanCCDC7/UBE2D1 [10p11.22/10q21.1]  [t(10;10)(p11;q21)]  
Fusion: TCGABICC1 10q21.1 UBE2D1 10q21.1 KIRC
Fusion: TCGACCDC6 10q21.2 UBE2D1 10q21.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBE2D1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBE2D1
dbVarUBE2D1
ClinVarUBE2D1
1000_GenomesUBE2D1 
Exome Variant ServerUBE2D1
ExAC (Exome Aggregation Consortium)UBE2D1 (select the gene name)
Genetic variants : HAPMAP7321
Genomic Variants (DGV)UBE2D1 [DGVbeta]
DECIPHERUBE2D1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBE2D1 
Mutations
ICGC Data PortalUBE2D1 
TCGA Data PortalUBE2D1 
Broad Tumor PortalUBE2D1
OASIS PortalUBE2D1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBE2D1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUBE2D1
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 UBE2D1
DgiDB (Drug Gene Interaction Database)UBE2D1
DoCM (Curated mutations)UBE2D1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBE2D1 (select a term)
intoGenUBE2D1
Cancer3DUBE2D1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602961   
Orphanet
MedgenUBE2D1
Genetic Testing Registry UBE2D1
NextProtP51668 [Medical]
TSGene7321
GENETestsUBE2D1
Target ValidationUBE2D1
Huge Navigator UBE2D1 [HugePedia]
snp3D : Map Gene to Disease7321
BioCentury BCIQUBE2D1
ClinGenUBE2D1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7321
Chemical/Pharm GKB GenePA37124
Clinical trialUBE2D1
Miscellaneous
canSAR (ICR)UBE2D1 (select the gene name)
Probes
Litterature
PubMed393 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBE2D1
EVEXUBE2D1
GoPubMedUBE2D1
iHOPUBE2D1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 13:01:35 CEST 2017

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