Homo sapiens Protein: HUWE1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-70120.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | HUWE1 | ||||||||||||||||||||||
Protein Name | HECT, UBA and WWE domain containing 1 | ||||||||||||||||||||||
Synonyms | ARF-BP1; HECTH9; HSPC272; Ib772; LASU1; MULE; URE-B1; UREB1; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000262854 | ||||||||||||||||||||||
InnateDB Gene | IDBG-70116 (HUWE1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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. {ECO:0000269PubMed:15567145, ECO:0000269PubMed:15767685, ECO:0000269PubMed:15989956, ECO:0000269PubMed:15989957, ECO:0000269PubMed:17567951, ECO:0000269PubMed:18488021, ECO:0000269PubMed:19713937}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000269PubMed:19713937}. Nucleus {ECO:0000269PubMed:19713937}. 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. {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | 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. {ECO:0000269PubMed:18252223}. 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. | ||||||||||||||||||||||
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. {ECO:0000269PubMed:15567145}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 409 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000449
Ubiquitin-associated domain/translation elongation factor EF-Ts, N-terminal IPR000569 HECT IPR004170 WWE domain IPR009060 UBA-like IPR010309 E3 ubiquitin ligase, domain of unknown function DUF908 IPR010314 E3 ubiquitin ligase, domain of unknown function DUF913 IPR015940 Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote IPR016024 Armadillo-type fold |
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PFAM |
PF00627
PF00632 PF02825 PF06012 PF06025 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00119
SM00165 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q7Z6Z7 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q7Z6Z7 | ||||||||||||||||||||||
TrEMBL | Q5H963 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 10075 | ||||||||||||||||||||||
UniGene | Hs.610183 | ||||||||||||||||||||||
RefSeq | NP_113584 | ||||||||||||||||||||||
HUGO | HGNC:30892 | ||||||||||||||||||||||
OMIM | 300697 | ||||||||||||||||||||||
CCDS | CCDS35301 | ||||||||||||||||||||||
HPRD | 06608 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB002310 AB046798 AB071605 AF057569 AF161390 AL162050 AL592046 AY772009 AY929612 BC002602 BC063505 CH471154 CR456813 DQ097177 Z94044 Z97054 | ||||||||||||||||||||||
GenPept | AAC62492 AAF28950 AAH02602 AAH63505 AAV90838 AAX24125 AAY98258 BAA20771 BAB13404 BAC06833 CAB82393 CAG33094 CAI39580 CAI42352 CAI42354 CAI42654 EAW93160 EAW93161 EAW93164 EAW93165 EAW93166 | ||||||||||||||||||||||