Gene

huwe1

ID
ZDB-GENE-081104-387
Name
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
Symbol
huwe1 Nomenclature History
Previous Names
  • sb:eu595
  • sb:eu633
  • sb:eu703
  • si:dkey-242a8.2
Type
protein_coding_gene
Location
Chr: 23 Mapping Details/Browsers
Description
Predicted to have ubiquitin protein ligase activity. Predicted to be involved in several processes, including Golgi organization; base-excision repair; and cellular protein metabolic process. Predicted to localize to Golgi membrane and nucleus. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Turner type. Orthologous to human HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1).
Genome Resources
Note
None
Expression
All Expression Data
4 figures from 2 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With huwe1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
syndromic X-linked intellectual disability Turner type Alliance Mental retardation, X-linked syndromic, Turner type 309590
Associated With huwe1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000569 HECT domain
Domain IPR004170 WWE domain
Domain IPR010309 E3 ubiquitin ligase, domain of unknown function DUF908
Domain IPR010314 E3 ubiquitin ligase, domain of unknown function DUF913
Domain IPR015940 Ubiquitin-associated domain
Domain IPR018123 WWE domain, subgroup
Domain IPR041918 HUWE1, UBA domain
Homologous_superfamily IPR009060 UBA-like superfamily
Homologous_superfamily IPR016024 Armadillo-type fold
Homologous_superfamily IPR035983 HECT, E3 ligase catalytic domain
Homologous_superfamily IPR037197 WWE domain superfamily
Repeat IPR025527 HUWE1/Rev1, ubiquitin binding region
Domain Details Per Protein
Protein Length Armadillo-type fold E3 ubiquitin ligase, domain of unknown function DUF908 E3 ubiquitin ligase, domain of unknown function DUF913 HECT domain HECT, E3 ligase catalytic domain HUWE1/Rev1, ubiquitin binding region HUWE1, UBA domain UBA-like superfamily Ubiquitin-associated domain WWE domain WWE domain, subgroup WWE domain superfamily
UniProtKB:E7F8Q5 2537
UniProtKB:F1QL68 4474
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations