UBE3D (ubiquitin protein ligase E3D)

Gene

• Entrez ID: 90025
• Gene name: Ubiquitin protein ligase E3D
• Gene symbol: UBE3D
• Synonyms (NCBI Gene): C6orf157, H10BH, UBE2CBP, YJR141W
• Chromosome: 6
• Chromosome location: 6q14.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IBA
GO:0000151	Component	Ubiquitin ligase complex	IDA	15749827
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IDA	15749827
GO:0005515	Function	Protein binding	IPI	27173435, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	39032490
GO:0006513	Process	Protein monoubiquitination	IBA
GO:0006513	Process	Protein monoubiquitination	IDA	15749827
GO:0008428	Function	Ribonuclease inhibitor activity	IDA	39032490
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030332	Function	Cyclin binding	IBA
GO:0030332	Function	Cyclin binding	IPI	15749827
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0044390	Function	Ubiquitin-like protein conjugating enzyme binding	IPI	15749827
GO:0051865	Process	Protein autoubiquitination	IBA
GO:0051865	Process	Protein autoubiquitination	IDA	15749827
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	15749827
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

Other IDs

• MIM: 612495
• HGNC: 21381
• e!Ensembl: ENSG00000118420

Protein

• UniProt ID: Q7Z6J8
• Protein name: E3 ubiquitin-protein ligase E3D (EC 2.3.2.26) (HECT-type E3 ubiquitin transferase E3D) (UbcH10-binding protein with a HECT-like domain) (Ubiquitin-conjugating enzyme E2C-binding protein)
• Protein function: E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome (PubMed:15749827). Independently of its E3 ubiquitin-prot
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09814	HECT_2	13 → 384	HECT-like Ubiquitin-conjugating enzyme (E2)-binding	Domain

• Sequence:

  MAASAAETRVFLEVRGQLQSALLILGEPKEGGMPMNISIMPSSLQMKTPEGCTEIQLPAE
  VRLVPSSCRGLQFVVGDGLHLRLQTQAKLGTKLISMFNQSSQTQECCTFYCQSCGEVIIK
  DRKLLRVLPLPSENWGALVGEWCCHPDPFANKSLHPQENDCFIGDSFFLVNLRTSLWQQR
  PELSPVEMCCVSSDNHCKLEPKANTKVICKRCKVMLGETVSSETTKFYMTEIIIQSSERS
  FPIIPRSWFVQSVIAQCLVQLSSARSTFRFTIQGQDDKVYILLWLLNSDSLVIESLRNSK
  YIKKFPLLENTFKADSSSAWSAVKVLYQPCIKSRNEKLVSLWESDISVHPLTLPSATCLE
  LLLILSKSNANLPSSLRRVNSFQVAFLKM

• Sequence length: 389

Pathways

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
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	25872646		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	26962152		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	26962152		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26891255		★☆☆☆☆ Found in Text Mining only