UBE2U (ubiquitin conjugating enzyme E2 U)

Gene

• Entrez ID: 148581
• Gene name: Ubiquitin conjugating enzyme E2 U
• Gene symbol: UBE2U
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1p31.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1468822	hsa-miR-450b-5p	CLIP-seq
MIRT1468823	hsa-miR-4662a-3p	CLIP-seq
MIRT1468824	hsa-miR-4696	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0005515	Function	Protein binding	IPI	19549727, 21516116, 25416956, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0006281	Process	DNA repair	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019787	Function	Ubiquitin-like protein transferase activity	IEA
GO:0032446	Process	Protein modification by small protein conjugation	IEA
GO:0033503	Component	HULC complex	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0061631	Function	Ubiquitin conjugating enzyme activity	IBA
GO:0061631	Function	Ubiquitin conjugating enzyme activity	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q5VVX9
• Protein name: Ubiquitin-conjugating enzyme E2 U (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme U) (Ubiquitin carrier protein U) (Ubiquitin-protein ligase U)
• Protein function: Catalyzes the covalent attachment of ubiquitin to other proteins.
• PDB: 1YRV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00179	UQ_con	8 → 147	Ubiquitin-conjugating enzyme	Domain

• Sequence:

  MHGRAYLLLHRDFCDLKENNYKGITAKPVSEDMMEWEVEIEGLQNSVWQGLVFQLTIHFT
  SEYNYAPPVVKFITIPFHPNVDPHTGQPCIDFLDNPEKWNTNYTLSSILLALQVMLSNPV
  LENPVNLEAARILVKDESLYRTILRLFNRPLQMKDDSQELPKDPRKCIRPIKTTSFSDYY
  QTWSRIATSKATEYYRTPLLKVPNFIGQYYKWKKMDLQHQKEWNLKYSVIKCWLARKRMP
  HEVTHSMEEIKLCPTLIPTTDEIFLESPTAINSITDIYETEEEGWKSDTSLYENDTDEPR
  EEEVEDLISWTNTLNTNTSED

• Sequence length: 321

Pathways

KEGG:

Ubiquitin mediated proteolysis

Reactome:

Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cataract	Cataract	Pubtator	33776059	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33776059	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	33776059	Associate	★☆☆☆☆ Found in Text Mining only
Retinoschisis	Retinoschisis	Pubtator	33776059	Associate	★☆☆☆☆ Found in Text Mining only
Riddle Syndrome	Riddle Syndrome	BEFREE	27903633		★☆☆☆☆ Found in Text Mining only
Riddle Syndrome	Riddle syndrome	Pubtator	27903633	Associate	★☆☆☆☆ Found in Text Mining only