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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in several processes, including Golgi organization; base-excision repair; and ubiquitin-dependent protein catabolic process. Predicted to be located in mitochondrion. Predicted to be active in Golgi membrane and nucleus. Is expressed in head. 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

Comparative Information

Expression

All Expression Data

6 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu595 (1 image)
eu633 (1 image)
eu703 (1 image)

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	Intellectual developmental disorder, 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
Conserved_site	IPR025527	HUWE1/REV1, ubiquitin-binding motif
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
Family	IPR050409	E3 ubiquitin-protein ligase
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

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0A8M3AVJ4	InterPro	4511
UniProtKB:A0A8M9Q812	InterPro	4569
UniProtKB:A0A8M9PX07	InterPro	4556
UniProtKB:A0A8M9PE41	InterPro	4568
UniProtKB:A0A8M2B950	InterPro	4568
UniProtKB:A0A8M2B9D5	InterPro	4537
UniProtKB:A0AC58IK10	InterPro	4567
UniProtKB:A0AC58IK17	InterPro	4555
UniProtKB:A0AC58IK19	InterPro	4556
UniProtKB:A0AC58IK21	InterPro	4568
UniProtKB:A0AC58IK23	InterPro	4569
UniProtKB:A0AC58IK29	InterPro	4568
UniProtKB:A0AC58IK31	InterPro	4510
UniProtKB:A0AC58IK32	InterPro	4556
UniProtKB:A0AC58IK33	InterPro	4510
UniProtKB:A0AC58IK34	InterPro	4536
UniProtKB:A0AC58IK36	InterPro	4498
UniProtKB:A0AC58IK37	InterPro	4536
UniProtKB:A0AC58IK41	InterPro	4523
UniProtKB:A0AC58IK44	InterPro	4568
UniProtKB:A0AC58IK45	InterPro	4524
UniProtKB:A0AC58IK46	InterPro	4510
UniProtKB:A0AC58IK49	InterPro	4537
UniProtKB:A0AC58IK53	InterPro	4554
UniProtKB:A0AC58IK67	InterPro	4523
UniProtKB:A0AC58IK68	InterPro	4496
UniProtKB:A0AC58IK69	InterPro	4497
UniProtKB:A0AC58IK74	InterPro	4555
UniProtKB:A0AC58IK75	InterPro	4536
UniProtKB:A0AC58IK81	InterPro	4537
UniProtKB:A0AC58IK91	InterPro	4497
UniProtKB:A0AB13A9I7	InterPro	4511
UniProtKB:A0A8M2B960	InterPro	4569