HUWE1 - HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Gene

Homo sapiens

Also known as MULE; Ib772; LASU1; MRXST; UREB1; HECTH9; URE-B1; ARF-BP1; HSPC272

Gene ID: 10075 | Gene type: protein coding

About HUWE1

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:53,532,096-53,686,719 (from NCBI)

This gene has 19 transcripts (splice variants), 207 orthologues, 24 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 14.5), testis (RPKM 13.8) and 25 other tissues.

Summary

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]

HUWE1 Products(1)

mRNA	Protein	Name
NM_031407.7	NP_113584.3	E3 ubiquitin-protein ligase HUWE1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables histone ubiquitin ligase activity	IDA IDA: Inferred from direct assay	15767685	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15989956	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	30217973	GOA
enables ubiquitin protein ligase activity	IMP IMP: Inferred from mutant phenotype	26214738	GOA
enables ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	15989957	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in base-excision repair	IMP IMP: Inferred from mutant phenotype	19713937	GOA
involved in circadian regulation of gene expression	IMP IMP: Inferred from mutant phenotype	20534529	GOA
involved in negative regulation of mitochondrial fusion	IMP IMP: Inferred from mutant phenotype	26214738	GOA
involved in positive regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	20534529	GOA
involved in positive regulation of type 2 mitophagy	IDA IDA: Inferred from direct assay	30217973	GOA
involved in protein monoubiquitination	IDA IDA: Inferred from direct assay	19713937	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	15989957	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19713937	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HUWE1 Protein Structure

DUF908

DUF913

UBA

WWE

DUF4414

HECT

0
700
1400
2100
2800
3500
4374 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase HUWE1

ARF-binding protein 1

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type

Juberg-Marsidi Syndrome	Jms
Brooks-Wisniewski-Brown Syndrome	MRXST
Mental Retardation, X-Linked, Syndromic, Turner Type	Mrxsbwb
Mental Retardation And Macrocephaly Syndrome	Mental Retardation, X-Linked, With Growth Retardation, Deafness, And Microgenitalism
Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type	Intellectual Developmental Disorder, X-Linked Syndromic, Turner Type
Brooks Wisniewski Brown Syndrome	X-Linked Intellectual Disability Brooks Type
Juberg Marsidi Syndrome	Intellectual Disability, X-Linked With Growth Delay, Deafness, Microgenitalism
Intellectual Disability, X-Linked, With Growth Retardation, Deafness, And Microgenitalism	Juberg-Marsidi Intellectual Disability Syndrome
X-Linked Hypogonadism Gynecomastia Intellectual Disability	X-Linked Intellectual Disability-Hypotonic Facies Syndrome 1

Syndromic X-Linked Intellectual Disability Turner Type

Mental Retardation, X-Linked Syndromic, Turner Type	Intellectual Disability, X-Linked Syndromic, Turner Type
Brooks-Wisniewski-Brown Syndrome	Mental Retardation And Macrocephaly Syndrome
Mrxst	X-Linked Intellectual Disability, Brooks Type
Mental Retardation, X-Linked, Syndromic, Turner Type

X-Linked Intellectual Disability, Turner Type

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Trigonocephaly With Short Stature And Developmental Delay

Say-Meyer Syndrome	Trigonocephaly-Short Stature-Developmental Delay Syndrome
Say Meyer Syndrome	Sames
Trigonocephaly, Short Stature, And Retarded Psychomotor Development

Trigonocephaly-Broad Thumbs Syndrome

Hunter-Rudd-Hoffmann Syndrome

Hunter Rudd Hoffmann Syndrome

Angelman Syndrome

AS	Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly	Puppetlike Syndrome

Kaufman Oculocerebrofacial Syndrome

KOS	Blepharophimosis-Ptosis-Intellectual Disability Syndrome
Oculocerebrofacial Syndrome, Kaufman Type	Bpids
Blepharophimosis Ptosis Intellectual Disability Syndrome	Blepharophimosis-Ptosis-Intellectual Disability Syndrome
Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet	Bpid Syndrome

Cataract 40

CTRCT40	Cataract 40 With Or Without Microcornea
Cct	Cataract, Congenital, X-Linked
Cataract 40, X-Linked	Cataract, Congenital, With Microcornea Or Slight Microphthalmia
Cxn	Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes
Cataract 40 X-Linked	Cataract Congenital X-Linked
Cataract, Total Congenital	Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes
Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes	X-Linked Congenital Cataract
Cataract, Type 40

Chromosome Xp11.22 Duplication Syndrome

Mrx17	Mental Retardation, X-Linked 31
Mrx31	Xp11.22 Microduplication Syndrome
X-Linked Mental Retardation 31	Mental Retardation, X-Linked 17

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Syndromic Intellectual Disability

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-120929	BI8622	Inhibitor	98.28%	Unkown
HY-120204	BI8626	Inhibitor	99.20%	Unkown
HY-RS06493	HUWE1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HUWE1	MGD	MGI:1926884
Felis catus	HUWE1	VGNC	VGNC:62859
Bos taurus	HUWE1	VGNC	VGNC:30009
Macaca mulatta	HUWE1	VGNC	VGNC:73462
Canis familiaris	HUWE1	VGNC	VGNC:41841
Rattus norvegicus	HUWE1	RGD	RGD:1561763

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