RBCC Red Blood Cell Collection

HUWE1_HUMAN

Source: hRBCD ; ID: IPI00456919
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: HUWE1 , KIAA0312, KIAA1578, UREB1 , HSPC272
Protein names and data: HUWE1_HUMAN , E3 ubiquitin-protein ligase HUWE1; 6.3.2.- , ARF-binding protein 1; ARF-BP1; HECT, UBA and WWE domain-containing protein 1; Homologous to E6AP carboxyl terminus homologous protein 9; HectH9; Large structure of UREB1; LASU1; Mcl-1 ubiquitin ligase E3; Mule; Upstream regulatory element-binding protein 1; URE-B1; URE-binding protein 1 Lenght: 4374 a.a.
Mass: 481891 Da
fasta formatted sequence
Function: E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediates monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation.
Pathway: Protein modification; protein ubiquitination.
Disease: ( OMIM: 300697 300705 300706 ) Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:300706]: A syndrome characterized by the association of mental retardation with macrocephaly and variable contractures. Note=The disease is caused by mutations affecting the gene represented in this entry. Mental retardation, X-linked 17 (MRX17) [MIM:300705]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal microduplication involving HSD17B10 and HUWE1 has been found in patients with mental retardation.
Cellular location: Cytoplasm. Nucleus. Note=Mainly expressed in the cytoplasm of most tissues, except in the nucleus of spermatogonia, primary spermatocytes and neuronal cells (By similarity). Predominantly cytosolic or perinuclear in some colorectal carcinoma cells.
Tissue specificity: Weakly expressed in heart, brain and placenta but not in other tissues. Expressed in a number of cell lines, predominantly in those from colorectal carcinomas.

Genetic variants

483 - 483 N -> S (in dbSNP:rs41307640). VAR_061986 41307640
2981 - 2981 R -> H (in MRXS-Turner). VAR_045670
4013 - 4013 R -> W (in MRXS-Turner). VAR_045671
4187 - 4187 R -> C (in MRXS-Turner). VAR_045672

Database cross-references

UniProt: Q7Z6Z7
Ensembl: ENST00000262854
Ensembl: ENST00000342160
MIM: 300697
MIM: 300705
MIM: 300706
neXtProt: NX_Q7Z6Z7
Antibodypedia: Q7Z6Z7 (may not find the protein thus also not any antibody)
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