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Gene: HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1) Homo sapiens
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Symbol: HUWE1
Name: HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
Description: 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 cognitive disability. [provided by RefSeq, Aug 2013]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARF binding protein 1; ARF-binding protein 1; ARF-BP1; BJ-HCC-24 tumor antigen; E3 ubiquitin-protein ligase HUWE1; HECT domain protein LASU1; HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase; HECT, UBA and WWE domain-containing protein 1; HECT-type E3 ubiquitin transferase HUWE1; HECTH9; homologous to E6AP carboxyl terminus homologous protein 9; HSPC272; Ib772; KIAA0312; large structure of UREB1; LASU1; Mcl-1 ubiquitin ligase E3; MRXST; MULE; upstream regulatory element-binding protein 1; URE-B1; URE-binding protein 1; UREB1
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X53,532,096 - 53,686,729 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,559,057 - 53,713,697 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,576,476 - 53,697,776 (-)NCBINCBI36hg18NCBI36
CeleraX57,390,630 - 57,545,232 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,615,901 - 50,769,910 (-)NCBIHuRef
CHM1_1X53,550,037 - 53,704,948 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on HUWE1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1343412
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.