The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enz... See more...

Aliases for UBE2D1 Gene

Aliases for UBE2D1 Gene

  • Ubiquitin Conjugating Enzyme E2 D1 2 3 5
  • Stimulator Of Fe Transport 2 3 4
  • UBCH5 2 3 4
  • Ubiquitin-Conjugating Enzyme E2D 1 (UBC4/5 Homolog, Yeast) 2 3
  • (E3-Independent) E2 Ubiquitin-Conjugating Enzyme D1 3 4
  • Ubiquitin-Conjugating Enzyme E2-17 KDa 1 3 4
  • Ubiquitin-Conjugating Enzyme E2(17)KB 1 3 4
  • Ubiquitin-Conjugating Enzyme E2 D1 3 4
  • E2 Ubiquitin-Conjugating Enzyme D1 3 4
  • Ubiquitin Carrier Protein D1 3 4
  • Ubiquitin-Protein Ligase D1 3 4
  • UBC4/5 Homolog 3 4
  • E2(17)KB1 2 3
  • UBC4/5 2 3
  • UBCH5A 3 4
  • SFT 3 4
  • Ubiquitin-Conjugating Enzyme E2D 1 2
  • Ubiquitin Conjugating Enzyme E2D 1 3
  • EC 6.3.2.19 50
  • EC 2.3.2.23 4
  • EC 2.3.2.24 4
  • UBE2D1 5
  • UbcH5A 2
  • UBC5A 4
  • UbcH5 4

External Ids for UBE2D1 Gene

Previous HGNC Symbols for UBE2D1 Gene

  • SFT

Previous GeneCards Identifiers for UBE2D1 Gene

  • GC10P058890
  • GC10P059120
  • GC10P059987
  • GC10P059439
  • GC10P059764
  • GC10P060094
  • GC10P054083

Summaries for UBE2D1 Gene

Entrez Gene Summary for UBE2D1 Gene

  • The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for UBE2D1 Gene

UBE2D1 (Ubiquitin Conjugating Enzyme E2 D1) is a Protein Coding gene. Diseases associated with UBE2D1 include Gordon Holmes Syndrome and Shigellosis. Among its related pathways are Cellular Senescence (REACTOME) and Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer. Gene Ontology (GO) annotations related to this gene include ligase activity and acid-amino acid ligase activity. An important paralog of this gene is UBE2D4.

UniProtKB/Swiss-Prot Summary for UBE2D1 Gene

  • Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:22496338). In vitro catalyzes 'Lys-48'-linked polyubiquitination (PubMed:20061386). Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1 (PubMed:18042044, PubMed:18359941). Ubiquitinates STUB1-associated HSP90AB1 in vitro (PubMed:18042044). Lacks inherent specificity for any particular lysine residue of ubiquitin (PubMed:18042044). Essential for viral activation of IRF3 (PubMed:19854139). Mediates polyubiquitination of CYP3A4 (PubMed:19103148).

Gene Wiki entry for UBE2D1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBE2D1 Gene

Genomics for UBE2D1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UBE2D1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J058334 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.3 1292 3.9 BCLAF1 ZNF600 MYC SIX5 POLR2A ZSCAN16 ZIC2 YY1 MXD4 NONO UBE2D1 CISD1 FJ601684-043 TFAM
GH10J058264 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.6 -67.3 -67300 6.7 SP1 MYC ZNF600 IKZF1 ZNF580 ZNF592 KLF9 POLR2A CEBPA ZNF10 CISD1 IPMK HSALNG0078168 NONHSAG005951.2 UBE2D1 TFAM MN309086
GH10J058383 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 7.9 +50.6 50560 3.3 BCLAF1 SP1 MYC ZNF600 ZNF580 ZNF592 ZMYM3 POLR2A ZNF223 ZNF10 TFAM NONHSAG005955.2 lnc-IPMK-3 UBE2D1 RF01061-028 BICC1
GH10J058280 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.8 -53.0 -52978 4 JUND BCL11A EP300 IRF4 TCF7L2 SPI1 POLR2A BATF ELF1 IKZF1 CISD1 TFAM UBE2D1 HSALNG0078170 IPMK NONHSAG005951.2
GH10J058322 Enhancer 1.2 FANTOM5 Ensembl ENCODE 8.3 -12.4 -12378 3.6 CEBPA YY1 CEBPB FEZF1 HOMEZ THAP11 FOXA2 KDM6A SMAD4 RXRA CISD1 IPMK TFAM UBE2D1 ENSG00000261076 ENSG00000228527
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBE2D1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBE2D1

Top Transcription factor binding sites by QIAGEN in the UBE2D1 gene promoter:
  • c-Myb
  • E47
  • En-1
  • Evi-1
  • HNF-4alpha1
  • p53
  • Pax-4a
  • PPAR-alpha
  • Tal-1beta
  • TGIF

Genomic Locations for UBE2D1 Gene

Latest Assembly
chr10:58,334,979-58,370,751
(GRCh38/hg38)
Size:
35,773 bases
Orientation:
Plus strand

Previous Assembly
chr10:60,094,766-60,130,508
(GRCh37/hg19 by Entrez Gene)
Size:
35,743 bases
Orientation:
Plus strand

chr10:60,094,735-60,130,513
(GRCh37/hg19 by Ensembl)
Size:
35,779 bases
Orientation:
Plus strand

Genomic View for UBE2D1 Gene

Genes around UBE2D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE2D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE2D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE2D1 Gene

Proteins for UBE2D1 Gene

  • Protein details for UBE2D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51668-UB2D1_HUMAN
    Recommended name:
    Ubiquitin-conjugating enzyme E2 D1
    Protein Accession:
    P51668
    Secondary Accessions:
    • A6NLF6
    • A8K786

    Protein attributes for UBE2D1 Gene

    Size:
    147 amino acids
    Molecular mass:
    16602 Da
    Quaternary structure:
    • Component of a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X. Interacts with RNF11.

    Three dimensional structures from OCA and Proteopedia for UBE2D1 Gene

neXtProt entry for UBE2D1 Gene

Selected DME Specific Peptides for UBE2D1 Gene

P51668:
  • CSAGPVG
  • DPNPDDPLVP
  • NSNGSICLDIL
  • YPFKPPK
  • YQGGVFFLT
  • HPNINSNG
  • QWSPALT
  • SLLCDPNP
  • TKIYHPN
  • WQATIMGP

Post-translational modifications for UBE2D1 Gene

Other Protein References for UBE2D1 Gene

Domains & Families for UBE2D1 Gene

Gene Families for UBE2D1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for UBE2D1 Gene

InterPro:
Blocks:
  • Ubiquitin-conjugating enzymes

Suggested Antigen Peptide Sequences for UBE2D1 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin-protein ligase D1 (UB2D1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51668

UniProtKB/Swiss-Prot:

UB2D1_HUMAN :
  • Belongs to the ubiquitin-conjugating enzyme family.
Family:
  • Belongs to the ubiquitin-conjugating enzyme family.
genes like me logo Genes that share domains with UBE2D1: view

Function for UBE2D1 Gene

Molecular function for UBE2D1 Gene

UniProtKB/Swiss-Prot Function:
Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:22496338). In vitro catalyzes 'Lys-48'-linked polyubiquitination (PubMed:20061386). Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1 (PubMed:18042044, PubMed:18359941). Ubiquitinates STUB1-associated HSP90AB1 in vitro (PubMed:18042044). Lacks inherent specificity for any particular lysine residue of ubiquitin (PubMed:18042044). Essential for viral activation of IRF3 (PubMed:19854139). Mediates polyubiquitination of CYP3A4 (PubMed:19103148).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.; EC=2.3.2.23; Evidence={ECO:0000255|PROSITE-ProRule:PRU00388, ECO:0000255|PROSITE-ProRule:PRU10133, ECO:0000269|PubMed:18042044, ECO:0000269|PubMed:19854139, ECO:0000269|PubMed:20061386};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E1 ubiquitin-activating enzyme]-L-cysteine + N(6)-monoubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.24; Evidence={ECO:0000269|PubMed:17588522};.
GENATLAS Biochemistry:
ubiquitin conjugating enzyme E2D1,homologous to yeast UBC4/5,involved in the degradation of cellular proteins,mediating the E6-AP dependent ubiquitination of p53

Enzyme Numbers (IUBMB) for UBE2D1 Gene

Phenotypes From GWAS Catalog for UBE2D1 Gene

Gene Ontology (GO) - Molecular Function for UBE2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004842 ubiquitin-protein transferase activity IDA 18359941
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with UBE2D1: view
genes like me logo Genes that share phenotypes with UBE2D1: view

Animal Models for UBE2D1 Gene

MGI Knock Outs for UBE2D1:
  • Ube2d1 Ube2d1<tm3e(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for UBE2D1

miRNA for UBE2D1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2D1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBE2D1 Gene

Localization for UBE2D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBE2D1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBE2D1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
mitochondrion 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBE2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 15247280
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 18845142
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UBE2D1: view

Pathways & Interactions for UBE2D1 Gene

PathCards logo

SuperPathways for UBE2D1 Gene

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
2 Activated TLR4 signalling
3 APC-Cdc20 mediated degradation of Nek2A
4 Protein ubiquitination
5 Class I MHC mediated antigen processing and presentation
genes like me logo Genes that share pathways with UBE2D1: view

Pathways by source for UBE2D1 Gene

3 GeneGo (Thomson Reuters) pathways for UBE2D1 Gene
  • Proteolysis_Putative ubiquitin pathway
  • Regulation of degradation of deltaF508 CFTR in CF
  • Regulation of degradation of wt-CFTR
1 R&D Systems pathway for UBE2D1 Gene
2 Qiagen pathways for UBE2D1 Gene
  • Remodeling of Adherens Junctions
  • Ubiquitin-Proteasome Dependent Proteolysis

UniProtKB/Swiss-Prot P51668-UB2D1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for UBE2D1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for UBE2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II TAS --
GO:0000209 protein polyubiquitination IDA 15247280
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
GO:0006511 ubiquitin-dependent protein catabolic process TAS --
GO:0006625 protein targeting to peroxisome TAS --
genes like me logo Genes that share ontologies with UBE2D1: view

Drugs & Compounds for UBE2D1 Gene

(4) Drugs for UBE2D1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Fe2+ Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for UBE2D1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with UBE2D1: view

Transcripts for UBE2D1 Gene

mRNA/cDNA for UBE2D1 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2D1

Alternative Splicing Database (ASD) splice patterns (SP) for UBE2D1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - -
SP2: -
SP3: - - -
SP4:

Relevant External Links for UBE2D1 Gene

GeneLoc Exon Structure for
UBE2D1

Expression for UBE2D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBE2D1 Gene

mRNA differential expression in normal tissues according to GTEx for UBE2D1 Gene

This gene is overexpressed in Whole Blood (x7.6) and Muscle - Skeletal (x6.8).

Protein differential expression in normal tissues from HIPED for UBE2D1 Gene

This gene is overexpressed in Liver (11.9), Breast (10.3), and Heart (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for UBE2D1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBE2D1

SOURCE GeneReport for Unigene cluster for UBE2D1 Gene:

Hs.129683

mRNA Expression by UniProt/SwissProt for UBE2D1 Gene:

P51668-UB2D1_HUMAN
Tissue specificity: Ubiquitous. Up-regulated in livers of iron-overloaded patients with hereditary hemochromatosis.

Evidence on tissue expression from TISSUES for UBE2D1 Gene

  • Muscle(4.5)
  • Bone marrow(4.4)
  • Skin(4.4)
  • Intestine(2.4)
  • Kidney(2.3)
  • Blood(2.3)
  • Nervous system(2.2)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with UBE2D1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE2D1 Gene

Orthologs for UBE2D1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBE2D1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UBE2D1 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UBE2D1 29 30
  • 97.28 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UBE2D1 29 30
  • 96.15 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UBE2D1 30
  • 96 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ube2d1 29 16 30
  • 89.34 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UBE2D1 30
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ube2d1 29
  • 87.76 (n)
Chicken
(Gallus gallus)
Aves UBE2D1 29 30
  • 89.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UBE2D1 30
  • 100 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ube2d1 29
  • 85.26 (n)
Str.6470 29
Zebrafish
(Danio rerio)
Actinopterygii ube2d1b 29 30
  • 81.63 (n)
OneToOne
wufc16h06 29
Fruit Fly
(Drosophila melanogaster)
Insecta eff 31
  • 89 (a)
CG10862 31
  • 52 (a)
CG2574 31
  • 49 (a)
Worm
(Caenorhabditis elegans)
Secernentea let-70 31
  • 89 (a)
F52C6.12 30
  • 68 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons UBC29 29
  • 66.21 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0658400 29
  • 68.25 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3943 29
Species where no ortholog for UBE2D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for UBE2D1 Gene

ENSEMBL:
Gene Tree for UBE2D1 (if available)
TreeFam:
Gene Tree for UBE2D1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBE2D1: view image
Alliance of Genome Resources:
Additional Orthologs for UBE2D1

Paralogs for UBE2D1 Gene

(30) SIMAP similar genes for UBE2D1 Gene using alignment to 1 proteins:

  • UB2D1_HUMAN
genes like me logo Genes that share paralogs with UBE2D1: view

Variants for UBE2D1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UBE2D1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for UBE2D1 Gene

Variant ID Type Subtype PubMed ID
esv3546365 CNV deletion 23714750

Variation tolerance for UBE2D1 Gene

Residual Variation Intolerance Score: 45.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBE2D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE2D1
Leiden Open Variation Database (LOVD)
UBE2D1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBE2D1 Gene

Disorders for UBE2D1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UBE2D1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
gordon holmes syndrome
  • gdhs
shigellosis
  • bacillary dysentery
charcot-marie-tooth disease
  • cmt - charcot-marie-tooth disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UBE2D1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with UBE2D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBE2D1 Gene

Publications for UBE2D1 Gene

  1. Two different classes of E2 ubiquitin-conjugating enzymes are required for the mono-ubiquitination of proteins and elongation by polyubiquitin chains with a specific topology. (PMID: 18042044) Windheim M … Cohen P (The Biochemical journal 2008) 3 4 22
  2. UbcH5A, a member of human E2 ubiquitin-conjugating enzymes, is closely related to SFT, a stimulator of iron transport, and is up-regulated in hereditary hemochromatosis. (PMID: 12480712) Gehrke SG … Stremmel W (Blood 2003) 3 4 22
  3. The IDOL-UBE2D complex mediates sterol-dependent degradation of the LDL receptor. (PMID: 21685362) Zhang L … Schwabe JW (Genes & development 2011) 3 4
  4. The E2 ubiquitin-conjugating enzymes direct polyubiquitination to preferred lysines. (PMID: 20061386) David Y … Navon A (The Journal of biological chemistry 2010) 3 4
  5. Insights into the conformational dynamics of the E3 ubiquitin ligase CHIP in complex with chaperones and E2 enzymes. (PMID: 20146531) Graf C … Mayer MP (Biochemistry 2010) 3 22

Products for UBE2D1 Gene

Sources for UBE2D1 Gene