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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10075

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	References	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	References	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	References	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

HUWE1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HUWE1	Q7Z6Z7	MCL1	Homo sapiens	Q07820	Experimental Interac	16213503
Intra	HUWE1	Q7Z6Z7	MCL1	Homo sapiens	Q07820	Anti Bait CoIP	16213503
Intra	HUWE1	Q7Z6Z7	MCL1	Homo sapiens	Q07820	Anti Tag CoIP	16213503
Intra	HUWE1	Q7Z6Z7	MCL1	Homo sapiens	Q07820	Anti Bait CoIP	20023629
Intra	HUWE1	Q7Z6Z7	MCL1	Homo sapiens	Q07820	Anti Bait CoIP	21507240
Intra	HUWE1	Q7Z6Z7	TP53	Homo sapiens	P04637	Pull Down	15989956
Intra	HUWE1	Q7Z6Z7	TP53	Homo sapiens	P04637	Anti Bait CoIP	15989956
Intra	HUWE1	Q7Z6Z7	CDKN2A	Homo sapiens	Q8N726	Anti Tag CoIP	26496610
Intra	HUWE1	Q7Z6Z7	CDKN2A	Homo sapiens	Q8N726	Anti Bait CoIP	15989956
Intra	HUWE1	Q7Z6Z7	USP4	Homo sapiens	Q13107	Anti Bait CoIP	21522127

Cross: Cross-species interaction Intra: Intraspecies interaction

HUWE1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86907	HUWE1 Antibody (YA6600)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-120929	BI8622	Inhibitor	98.16%	Unkown
HY-120204	BI8626	Inhibitor	98.49%	Unkown
HY-RS06493	HUWE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18391	Huwe1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24872	Huwe1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	HUWE1	NCBI