RBCC Red Blood Cell Collection

UBE3B_HUMAN

Source: hRBCD ; ID: IPI00000552
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: UBE3B
Protein names and data: UBE3B_HUMAN , Ubiquitin-protein ligase E3B; 6.3.2.- Lenght: 1068 a.a.
Mass: 123098 Da
fasta formatted sequence
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 (By similarity).
Pathway: Protein modification; protein ubiquitination.
Disease: ( OMIM: 608047 615057 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity: Widely expressed.

Genetic variants

346 - 346 R -> Q (in dbSNP:rs7298565). VAR_031302 7298565
727 - 727 Q -> P (in BPIDS). VAR_069712

Database cross-references

UniProt: Q7Z3V4
Ensembl: ENST00000280774
Ensembl: ENST00000340074
Ensembl: ENST00000342494
Ensembl: ENST00000434735
Ensembl: ENST00000449510
Ensembl: ENST00000536398
Ensembl: ENST00000540230
MIM: 608047
MIM: 615057
neXtProt: NX_Q7Z3V4
Antibodypedia: Q7Z3V4 (may not find the protein thus also not any antibody)
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