1. Gene
  2. WAC - WW domain containing adaptor with coiled-coil Gene

WAC - WW domain containing adaptor with coiled-coil Gene

中文名称:含 WW 域和卷曲卷曲结构域的适配因子

种属: Homo sapiens

同用名: Wwp4; DESSH; BM-016; PRO1741

基因 ID: 51322 | 基因类型: protein coding

关于 WAC

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:28,532,779-28,623,112 (from NCBI)

This gene has 28 transcripts (splice variants), 292 orthologues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 29.5), thyroid (RPKM 26.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质包含一个 WW 结构域,这是一个广泛存在于信号蛋白中的蛋白质模块。该结构域介导蛋白质-蛋白质相互作用并结合含有富含脯氨酸或至少含有一种脯氨酸的短线性肽基序的蛋白质。该基因产物与小鼠 WAC 蛋白具有 94% 的序列同一性,但其确切功能尚不清楚。可变剪接导致多个转录本变体。[RefSeq 提供,2008 年 12 月]

The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

WAC 基因产物(3)

mRNA Protein Name
NM_016628.5 NP_057712.2 WW domain-containing adapter protein with coiled-coil isoform 1
NM_100264.3 NP_567822.1 WW domain-containing adapter protein with coiled-coil isoform 2
NM_100486.4 NP_567823.1 WW domain-containing adapter protein with coiled-coil isoform 3
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables RNA polymerase II complex binding IDA
IDA: 通过直接分析推断
21329877 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
21329877 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IMP
IMP: 通过突变表型推断
21329877 GOA
involved in chromatin remodeling IMP
IMP: 通过突变表型推断
21329877 GOA
involved in mitotic G1 DNA damage checkpoint signaling IMP
IMP: 通过突变表型推断
21329877 GOA
involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
22354037 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
21329877 GOA
involved in positive regulation of macroautophagy IMP
IMP: 通过突变表型推断
22354037 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

WAC 蛋白结构

WW

WW: WW domain (132 - 160)

  • 0
  • 100
  • 200
  • 300
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  • 500
  • 600
  • 647 a.a.
蛋白主名 其他名称

WW domain-containing adapter protein with coiled-coil

WAC 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
WAC Q9BTA9 KLC3 Homo sapiens Q6P597 25416956
种属内
WAC Q9BTA9 NFE2L2 Homo sapiens Q16236 25416956
种属内
WAC Q9BTA9 NFE2L2 Homo sapiens Q16236 25416956
种属内
WAC Q9BTA9 SYTL5 Homo sapiens Q8TDW5 25416956
种属内
WAC Q9BTA9 TRAF1 Homo sapiens Q13077 25416956
种属内
WAC Q9BTA9 HTT Homo sapiens P42858
Y2H
17500595
种属内
WAC Q9BTA9 KRT15 Homo sapiens P19012 25416956
种属内
WAC Q9BTA9 DYDC1 Homo sapiens Q8WWB3 25416956
种属内
WAC Q9BTA9 DYDC1 Homo sapiens Q8WWB3 25416956
种属内
WAC Q9BTA9 MTUS2 Homo sapiens Q5JR59 25416956
种属内
WAC Q9BTA9 MTUS2 Homo sapiens Q5JR59 25416956
种属内
WAC Q9BTA9 MTUS2 Homo sapiens Q5JR59 25416956
种属内
WAC Q9BTA9 TRAF3IP3 Homo sapiens Q9Y228 25416956
种属内
WAC Q9BTA9 TRAF3IP3 Homo sapiens Q9Y228 25416956
种属内
WAC Q9BTA9 AKAP9 Homo sapiens Q99996-2 25416956
种属内
WAC Q9BTA9 AKAP9 Homo sapiens Q99996-2 25416956
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
Desanto-Shinawi Syndrome

Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation

Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10p11.21p12.31 Microdeletion

Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome

DESSH

Developmental Delay, Behavioral Abnormalities, Facial Dysmorphism, And Ocular Abnormalities

Chromosome 10p12-P11 Deletion Syndrome

10p12p11 Microdeletion Syndrome

Del(10)(P11.21p12.31)

Deletion 10p11.21p12.31

Monosomy 10p11.21p12.31

Branchial Cleft Anomalies

Second Branchial Cleft Cyst

Second Branchial Cleft Anomaly

Second Branchial Cleft Fistula

Amelogenesis Imperfecta, Type Iiia

Ai3

Adhcai

Amelogenesis Imperfecta Type 3

AI3A

Amelogenesis Imperfecta, Type Iii

Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant

Amelogenesis Imperfecta Type 3a

Amelogenesis Imperfecta Hypomineralization Type

Amelogenesis Imperfecta Type Iii

Hypocalcified Amelogenesis Imperfecta

Amelogenesis Imperfecta, Type 3

Amelogenesis Imperfecta, Hypomineralization Type

Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type

Amelogenesis Imperfecta 3a

Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant

Hypotonia
Cerebellar Astrocytoma

Astrocytoma Of Cerebellum

Constipation
Weyers Acrofacial Dysostosis

Curry-Hall Syndrome

Weyers Acrodental Dysostosis

WAD

Acrodental Dysostosis Of Weyers

Acrofacial Dysostosis, Weyers Type

Acrofacial Dysostosis Of Weyers

Curry Hall Syndrome

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

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
Felis catus WAC VGNC VGNC:66997
Mus musculus WAC MGD MGI:2387357
Rattus norvegicus WAC RGD RGD:1562407
Macaca mulatta WAC VGNC VGNC:79072
Bos taurus WAC VGNC VGNC:36861