1. Gene
  2. WDR81 - WD repeat domain 81 Gene

WDR81 - WD repeat domain 81 Gene

中文名称:WD 重复域 81

种属: Homo sapiens

同用名: HYC3; CAMRQ2; SORF-2; PPP1R166

基因 ID: 124997 | 基因类型: protein coding

关于 WDR81

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,716,523-1,738,585 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 204 orthologues, 26 paralogues and is associated with 4 phenotypes. Ubiquitous expression in spleen (RPKM 7.6), lymph node (RPKM 5.7) and 25 other tissues.

功能概要

该基因编码一种多结构域跨膜蛋白,该蛋白主要在大脑中表达,被认为在内溶酶体运输中发挥作用。该基因的突变与表现出小脑性共济失调、认知障碍和失衡 (CAMRQ2) 的常染色体隐性综合征相关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2017 年 7 月]

This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

WDR81 基因产物(4)

mRNA Protein Name
NM_001163673.2 NP_001157145.1 WD repeat-containing protein 81 isoform 3
NM_001163809.2 NP_001157281.1 WD repeat-containing protein 81 isoform 1
NM_001163811.2 NP_001157283.1 WD repeat-containing protein 81 isoform 4
NM_152348.4 NP_689561.2 WD repeat-containing protein 81 isoform 2
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 K63-linked polyubiquitin modification-dependent protein binding IDA
IDA: 通过直接分析推断
28404643 GOA
enables phosphatidylinositol 3-kinase inhibitor activity IMP
IMP: 通过突变表型推断
26783301 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
26783301 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in aggrephagy IMP
IMP: 通过突变表型推断
28404643 GOA
involved in early endosome to late endosome transport IMP
IMP: 通过突变表型推断
26783301 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
26783301 GOA
involved in ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
28404643 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
NOT located in Golgi apparatus IDA
IDA: 通过直接分析推断
28404643 GOA
located in autophagosome membrane IDA
IDA: 通过直接分析推断
28404643 GOA
located in cytosol IDA
IDA: 通过直接分析推断
26783301 GOA
located in early endosome membrane IDA
IDA: 通过直接分析推断
26783301 GOA
NOT located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
28404643 GOA
located in endosome membrane IDA
IDA: 通过直接分析推断
26783301 GOA
located in late endosome membrane IDA
IDA: 通过直接分析推断
26783301 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
27126989 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
28404643 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

WDR81 蛋白结构

Beach

Beach: Beige/BEACH domain (351 - 591)

WD40

WD40: WD domain, G-beta repeat (1641 - 1675)

WD40

WD40: WD domain, G-beta repeat (1818 - 1855)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1800
  • 1941 a.a.
蛋白主名 其他名称

WD repeat-containing protein 81

protein phosphatase 1, regulatory subunit 166

WDR81 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
WDR81 Q562E7 WDR91 Homo sapiens A4D1P6
Anti Tag CoIP
27126989
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
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2

Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 2

CAMRQ2

Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 2

Ataxia, Cerebellar, Mental Retardation, And Dysequilibrium Syndrome, Type 2

Hydrocephalus, Congenital, 3, With Brain Anomalies

HYC3

Hydrocephalus, Nonsyndromic, Autosomal Recessive 3, Formerly

Hydrocephalus, Non-Syndromic, Autosomal Recessive 3

Microlissencephaly
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

Dysequilibrium Syndrome

CAMRQ1

Des

Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

Cerebellar Hypoplasia, Vldlr-Associated

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

Uner Tan Syndrome

Vldlr Cerebellar Hypoplasia

Vldlrch

Vldlr-Associated Cerebellar Hypoplasia

Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

Camrq

Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

Cerebellar Disorder, Nonprogressive, With Intellectual Disability

Cerebellar Hypoplasia, Vldlr Associated

Autosomal Recessive Cerebellar Ataxia With Mental Retardation

Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

Cerebellar Disorder, Nonprogressive, With Mental Retardation

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

Chmrq1

Des-Vldlr

Dysequilibrium Syndrome-Vldlr

Vldlr-Ch

Camrq Syndrome

Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

Uts

Cerebellar Hypoplasia Vldlr-Associated

Dialysis Disequilibrium Syndrome

Hydranencephaly

Hydroanencephaly

Cerebellar Hypoplasia
Congenital Hydrocephalus

Hydrocephalus

Hydrocephalus Adverse Event

Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Hydrocephalus In Newborn

Congenital Hydrocephaly

Autosomal Recessive Congenital Cerebellar Ataxia
Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities

CECBA

Cerebellar Ataxia, Nonprogressive, With Mental Retardation

Canpmr

Nonprogressive Cerebellar Ataxia With Mental Retardation

Non-Progressive Cerebellar Ataxia With Intellectual Disability

Ataxia, Cerebellar, Nonprogressive, With Mental Retardation

Scalp-Ear-Nipple Syndrome

Finlay-Marks Syndrome

Sen Syndrome

SENS

Scalp Ear Nipple Syndrome

Hereditary Syndrome Of Lumpy Scalp, Odd Ears And Rudimentary Nipples

Hereditary Syndrome Of Lumpy Scalp, Odd Ears, And Rudimentary Nipples

Indian Childhood Cirrhosis

Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome

17p13.3 Duplication Syndrome

17p13.3 Microduplication Syndrome

Trisomy 17p13.3

Chromosome 17p13.3 Centromeric Duplication Syndrome

Dup(17)(P13.3)

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Gillespie Syndrome

GLSP

Aniridia, Cerebellar Ataxia And Mental Deficiency

Aniridia Cerebellar Ataxia Mental Deficiency

Aniridia, Cerebellar Ataxia, And Mental Retardation

Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

Aniridia-Cerebellar Ataxia-Intellectual Disability

Aniridia-Cerebellar Ataxia-Mental Deficiency

Partial Aniridia-Cerebellar Ataxia-Oligophrenia

Aniridia, Cerebellar Ataxia, And Intellectual Disability

Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

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
Bos taurus WDR81 VGNC VGNC:55886
Mus musculus WDR81 MGD MGI:2681828
Macaca mulatta WDR81 VGNC VGNC:104674
Canis familiaris WDR81 VGNC VGNC:48390
Rattus norvegicus WDR81 RGD RGD:1311334
Felis catus WDR81 VGNC VGNC:67058