Homo sapiens Gene: HUWE1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-70116.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | HUWE1 | ||||||||||||||||||||||
Gene Name | HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase | ||||||||||||||||||||||
Synonyms | ARF-BP1; HECTH9; HSPC272; Ib772; LASU1; MULE; URE-B1; UREB1 | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000086758 | ||||||||||||||||||||||
Encoded Proteins |
HECT, UBA and WWE domain containing 1
HECT, UBA and WWE domain containing 1
HECT, UBA and WWE domain containing 1
HECT, UBA and WWE domain containing 1
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
This gene encodes a member of the HECT E3 ubiquitin ligase family. The HECT domain lies in the C-terminus and contains the active-site cysteine which forms an intermediate ubiquitin-thioester bond. E3 family members are divided into three subfamilies based on their protein-protein interaction domains; this gene encodes a member of the SI(ngle)-HECT E3 subfamily. In lung, breast, and colorectal carcinomas, this gene is highly expressed. Mutations in this gene has been found in 3 unrelated families with X-linked syndromic mental retardation, Turner type. [provided by RefSeq, Nov 2009] This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic mental retardation. [provided by RefSeq, Aug 2013] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome X:53532096-53686729 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | p11.22 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
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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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH |
EGFR1 pathway
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REACTOME |
Antigen processing: Ubiquitination & Proteasome degradation pathway
Adaptive Immune System pathway
Immune System pathway
Class I MHC mediated antigen processing & presentation pathway
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KEGG |
Ubiquitin mediated proteolysis pathway
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INOH | |||||||||||||||||||||||
PID NCI |
Validated targets of C-MYC transcriptional activation
p53 pathway
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Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | Q5H964 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 10075 | ||||||||||||||||||||||
UniGene | |||||||||||||||||||||||
RefSeq | NM_031407 XM_005261965 XM_005261966 XM_005261967 XM_005261968 XM_006724574 | ||||||||||||||||||||||
HUGO | HGNC:30892 | ||||||||||||||||||||||
OMIM | 300697 | ||||||||||||||||||||||
CCDS | CCDS35301 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | Z94044 | ||||||||||||||||||||||
GenPept | CAI42351 | ||||||||||||||||||||||
RNA Seq Atlas | 10075 | ||||||||||||||||||||||