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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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
Polycomb repressive complex Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Ubiquitin mediated proteolysis Inactivation of APC/C via direct inhibition of the APC/C complex
Protein processing in endoplasmic reticulum TICAM1, RIP1-mediated IKK complex recruitment
Shigellosis 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 Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 35589863
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASE — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (25)
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 Pubtator 12480712 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only