InnateDB Protein
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IDBP-593532.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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UBE3B
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Protein Name
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ubiquitin protein ligase E3B
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000440585
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InnateDB Gene
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IDBG-56108 (UBE3B)
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Protein Structure
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Function |
E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. {ECO:0000250}.
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Subcellular Localization |
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Disease Associations |
Blepharophimosis-ptosis-intellectual disability syndrome (BPIDS) [MIM:615057]: A disorder characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of the corpus callosum, and low cholesterol levels are variably present. {ECO:0000269PubMed:23200864}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. {ECO:0000269PubMed:12837265}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0042787
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protein ubiquitination involved in ubiquitin-dependent protein catabolic process
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Cellular Component |
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PDB ID |
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InterPro |
IPR000048
IQ motif, EF-hand binding site
IPR027417
P-loop containing nucleoside triphosphate hydrolase
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PFAM |
PF00612
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PRINTS |
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PIRSF |
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SMART |
SM00015
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TIGRFAMs |
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Modification |
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SwissProt |
Q7Z3V4
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PhosphoSite |
PhosphoSite-Q7Z3V4
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
89910
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UniGene |
Hs.606582
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RefSeq |
NP_001257380
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HUGO |
HGNC:13478
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OMIM |
608047
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CCDS |
CCDS58277
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HPRD |
06993
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IMGT |
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EMBL |
AC007570
AF251046
AL096740
BC032301
BC051266
BC068221
BC108705
BC141880
BX537403
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GenPept |
AAH32301
AAH51266
AAH68221
AAI08706
AAI41881
AAK28419
CAD97645
CAH56410
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