Homo sapiens Gene: HUWE1
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:53532096-53686729
Strand Reverse strand
Band p11.22
Transcripts
ENST00000342160 ENSP00000340648
ENST00000262854 ENSP00000262854
ENST00000218328
ENST00000426907 ENSP00000403236
ENST00000446750 ENSP00000413651
ENST00000488459
ENST00000474971
ENST00000480438
ENST00000463852
ENST00000468322 ENSP00000483891
ENST00000474288
ENST00000489876
ENST00000471676
ENST00000612484 ENSP00000479451
ENST00000622887 ENSP00000484417
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.
Experimentally validated
Total 409 [view]
Protein-Protein 408 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005488 binding
GO:0005515 protein binding
GO:0016874 ligase activity
GO:0044822 poly(A) RNA binding
Biological Process
GO:0000209 protein polyubiquitination
GO:0006284 base-excision repair
GO:0006513 protein monoubiquitination
GO:0016574 histone ubiquitination
GO:0030154 cell differentiation
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
EGFR1 pathway
REACTOME
Adaptive Immune System pathway
Immune System pathway
Antigen processing: Ubiquitination & Proteasome degradation pathway
Class I MHC mediated antigen processing & presentation pathway
KEGG
Ubiquitin mediated proteolysis pathway
INOH
PID BIOCARTA
PID NCI
Validated targets of C-MYC transcriptional activation
p53 pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.610183
RefSeq NM_031407 XM_005261965 XM_005261966 XM_005261967 XM_005261968 XM_006724574
HUGO
OMIM
CCDS CCDS35301
HPRD 06608
IMGT
EMBL
GenPept
RNA Seq Atlas