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

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

中文名称:含 HECT、UBA 和 WWE 结构域的 E3 泛素蛋白连接酶 1

种属: Homo sapiens

同用名: MULE; Ib772; LASU1; MRXST; UREB1; HECTH9; URE-B1; ARF-BP1; HSPC272

基因 ID: 10075 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质含有一个 C 端 HECT (E6AP 型 E3 泛素蛋白连接酶) 结构域,该结构域作为 E3 泛素连接酶发挥作用。编码的蛋白质是抗凋亡蛋白 Mcl1 (骨髓细胞白血病序列 1 (BCL2 相关) ) 的泛素化和随后降解所必需的。这种蛋白质还泛素化 p53 肿瘤抑制因子、核心组蛋白和 DNA 聚合酶 β。该基因的突变与特纳型 X 连锁综合征认知障碍有关。[RefSeq 提供,2013 年 8 月]

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 基因产物(1)

mRNA Protein Name
NM_031407.7 NP_113584.3 E3 ubiquitin-protein ligase HUWE1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables histone ubiquitin ligase activity IDA
IDA: 通过直接分析推断
15767685 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15989956 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
30217973 GOA
enables ubiquitin protein ligase activity IMP
IMP: 通过突变表型推断
26214738 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
15989957 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in base-excision repair IMP
IMP: 通过突变表型推断
19713937 GOA
involved in circadian regulation of gene expression IMP
IMP: 通过突变表型推断
20534529 GOA
involved in negative regulation of mitochondrial fusion IMP
IMP: 通过突变表型推断
26214738 GOA
involved in positive regulation of protein ubiquitination IDA
IDA: 通过直接分析推断
20534529 GOA
involved in positive regulation of type 2 mitophagy IDA
IDA: 通过直接分析推断
30217973 GOA
involved in protein monoubiquitination IDA
IDA: 通过直接分析推断
19713937 GOA
involved in protein polyubiquitination IDA
IDA: 通过直接分析推断
15989957 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
19713937 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

HUWE1 蛋白结构

DUF908

DUF908: Domain of Unknown Function (DUF908) (90 - 370)

DUF913

DUF913: Domain of Unknown Function (DUF913) (429 - 815)

UBA

UBA: UBA/TS-N domain (1317 - 1352)

WWE

WWE: WWE domain (1616 - 1678)

DUF4414

DUF4414: Domain of unknown function (DUF4414) (2968 - 3079)

HECT

HECT: HECT-domain (ubiquitin-transferase) (4069 - 4373)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4374 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase HUWE1

ARF-binding protein 1

HUWE1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
HUWE1 Q7Z6Z7 MCL1 Homo sapiens Q07820 16213503
种属内
HUWE1 Q7Z6Z7 MCL1 Homo sapiens Q07820 16213503
种属内
HUWE1 Q7Z6Z7 MCL1 Homo sapiens Q07820 16213503
种属内
HUWE1 Q7Z6Z7 MCL1 Homo sapiens Q07820 20023629
种属内
HUWE1 Q7Z6Z7 MCL1 Homo sapiens Q07820 21507240
种属内
HUWE1 Q7Z6Z7 TP53 Homo sapiens P04637 15989956
种属内
HUWE1 Q7Z6Z7 TP53 Homo sapiens P04637 15989956
种属内
HUWE1 Q7Z6Z7 CDKN2A Homo sapiens Q8N726 26496610
种属内
HUWE1 Q7Z6Z7 CDKN2A Homo sapiens Q8N726 15989956
种属内
HUWE1 Q7Z6Z7 USP4 Homo sapiens Q13107 21522127
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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