Gene Gene information from NCBI Gene database.
Entrez ID 7321
Gene name Ubiquitin conjugating enzyme E2 D1
Gene symbol UBE2D1
Synonyms (NCBI Gene)
E2(17)KB1SFTUBC4/5UBCH5UBCH5A
Chromosome 10
Chromosome location 10q21.1
Summary 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-conju
miRNA miRNA information provided by mirtarbase database.
507
miRTarBase ID miRNA Experiments Reference
MIRT021975 hsa-miR-128-3p Microarray 17612493
MIRT024683 hsa-miR-215-5p Microarray 19074876
MIRT026353 hsa-miR-192-5p Microarray 19074876
MIRT044897 hsa-miR-188-5p CLASH 23622248
MIRT520378 hsa-miR-548ac PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS
GO:0000166 Function Nucleotide binding IEA
GO:0000209 Process Protein polyubiquitination IDA 15247280, 16275645
GO:0000209 Process Protein polyubiquitination IEA
GO:0004842 Function Ubiquitin-protein transferase activity IDA 18359941, 20061386
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602961 12474 ENSG00000072401
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51668
Protein name Ubiquitin-conjugating enzyme E2 D1 (EC 2.3.2.23) ((E3-independent) E2 ubiquitin-conjugating enzyme D1) (EC 2.3.2.24) (E2 ubiquitin-conjugating enzyme D1) (Stimulator of Fe transport) (SFT) (UBC4/5 homolog) (UbcH5) (Ubiquitin carrier protein D1) (Ubiquitin
Protein 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 abnor
PDB 2C4P , 2YHO , 3OJ4 , 3PTF , 4AP4 , 4QPL , 5FER , 5TUT , 6D4P , 7ZJ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00179 UQ_con 5 142 Ubiquitin-conjugating enzyme Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Up-regulated in livers of iron-overloaded patients with hereditary hemochromatosis. {ECO:0000269|PubMed:12480712, ECO:0000269|PubMed:9362508}.
Sequence
Sequence length 147
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Polycomb repressive complex
Ubiquitin mediated proteolysis
Protein processing in endoplasmic reticulum
Shigellosis
  Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Inactivation of APC/C via direct inhibition of the APC/C complex
TICAM1, RIP1-mediated IKK complex recruitment
APC/C:Cdc20 mediated degradation of Cyclin B
Autodegradation of Cdh1 by Cdh1:APC/C
APC/C:Cdc20 mediated degradation of Securin
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Cdc20:Phospho-APC/C mediated degradation of Cyclin A
Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
Regulation of APC/C activators between G1/S and early anaphase
APC/C:Cdc20 mediated degradation of mitotic proteins
Phosphorylation of the APC/C
APC-Cdc20 mediated degradation of Nek2A
Signaling by BMP
Downstream TCR signaling
Downregulation of SMAD2/3:SMAD4 transcriptional activity
Separation of Sister Chromatids
Senescence-Associated Secretory Phenotype (SASP)
FCERI mediated NF-kB activation
CLEC7A (Dectin-1) signaling
Ovarian tumor domain proteases
CDK-mediated phosphorylation and removal of Cdc6
Transcriptional Regulation by VENTX
Synthesis of active ubiquitin: roles of E1 and E2 enzymes
E3 ubiquitin ligases ubiquitinate target proteins
Neddylation
Peroxisomal protein import
IKK complex recruitment mediated by RIP1
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplasia Anaplasia BEFREE 30603845
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 11313310
★☆☆☆☆
Found in Text Mining only
Angiomatous Meningioma Angiomatous Meningioma BEFREE 30777209
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 34416429 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 30420903 Stimulate
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 29427365
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 34854395 Associate
★☆☆☆☆
Found in Text Mining only
hemangiopericytoma Hemangiopericytoma BEFREE 29521591
★☆☆☆☆
Found in Text Mining only
Hemochromatosis Hemochromatosis BEFREE 11313310, 9918797
★☆☆☆☆
Found in Text Mining only
Hemochromatosis Hemochromatosis LHGDN 12480712
★☆☆☆☆
Found in Text Mining only