1. Gene
  2. WDR11 - WD repeat domain 11 Gene

WDR11 - WD repeat domain 11 Gene

中文名称:WD 重复域 11

种属: Homo sapiens

同用名: DR11; HH14; SRI1; BRWD2; WDR15

基因 ID: 55717 | 基因类型: protein coding

关于 WDR11

Cytogenetic location: 10q26.12 Genomic coordinates (GRCh38): 10:120,851,362-120,909,524 (from NCBI)

This gene has 17 transcripts (splice variants), 206 orthologues and is associated with 6 phenotypes. Ubiquitous expression in thyroid (RPKM 17.7), appendix (RPKM 14.7) and 25 other tissues.

功能概要

该基因编码 WD 重复蛋白家族的一个成员。 WD 重复是大约 40 个氨基酸的最小保守区域,通常由 gly-his 和 trp-asp (GH-WD) 括起来,这可能有助于异源三聚体或多蛋白复合物的形成。该家族的成员参与多种细胞过程,包括细胞周期进程、信号转导、细胞凋亡和基因调控。该基因位于染色体 10q25-26 区域,该区域在神经胶质瘤和其他组织的肿瘤中经常缺失,并在胶质母细胞瘤细胞中被 t (10;19) 易位重排破坏。基因位置表明它是肿瘤抑制基因座的候选基因。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 Amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, Apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of Other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]

WDR11 基因产物(1)

mRNA Protein Name
NM_018117.12 NP_060587.8 WD repeat-containing protein 11
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 protein binding IPI
IPI: 通过物理相互作用推断
20887964 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular protein transport IDA
IDA: 通过直接分析推断
29426865 GOA
involved in vesicle tethering to Golgi IDA
IDA: 通过直接分析推断
29426865 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in ciliary basal body IDA
IDA: 通过直接分析推断
29263200 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
20887964 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
29426865 GOA
located in nucleus IDA
IDA: 通过直接分析推断
29263200 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
29426865 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

WDR11 蛋白结构

WD40

WD40: WD domain, G-beta repeat (53 - 99)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1224 a.a.
蛋白主名 其他名称

WD repeat-containing protein 11

WD repeat domain 15

WDR11 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
WDR11 Q9BZH6 EMX1 Homo sapiens Q04741 29263200
种属内
WDR11 Q9BZH6 P10071-PRO_0000406137 Homo sapiens P10071-PRO_0000406137 29263200
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
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia

HH14

Hypogonadism, Hypogonadotropic, Type 14 With/Without Anosmia

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Normosmic Congenital Hypogonadotropic Hypogonadism

Normosmic Idiopathic Hypogonadotropic Hypogonadism

Nihh

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Hypogonadotropic Hypogonadism 7 With Or Without Anosmia

Idiopathic Hypogonadotropic Hypogonadism

HH7

Hypogonadism, Isolated Hypogonadotropic

Ihh

Hypogonadism, Isolated, Hypogonadotropic

Hypogonadotropic Hypogonadism

Isolated Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism 7 Without Anosmia

Congenital Hypogonadotropic Hypogonadism Normosmic

Hh

Klinefelter Syndrome

Isolated Gonadotropin Deficiency

Pituitary Stalk Interruption Syndrome

Ectopic Neurohypophysis

Psis

Hypogonadotropic Hypogonadism

Klinefelter Syndrome

Klinefelter'S Syndrome

Xxy Syndrome

Xxy Trisomy

Hypogonadotropism

47, Xxy

Congenital Idiopathic Hypogonadotropic Hypogonadism

Isolated Congenital Gonadotropin Deficiency

47,Xxy Syndrome

47, Xxy Syndrome

Klinefelters Syndrome

Hypogonadism

Klinefelter Syndrome In Males

Klinefelter Syndrome, Unspecified

Klinefelter Syndrome Karyotype 47, Xxy

Type 1 Diabetes Mellitus 15

Diabetes Mellitus, Insulin-Dependent, 15

Iddm15

Insulin-Dependent Diabetes Mellitus 15

T1D15

Insulin-Dependent Diabetes Mellitus-15

Alopecia Universalis Congenita

Alopecia Universalis

ALUNC

Atrichia, Generalized

Au

Alopecia Areata Universalis

Atrichia Generalized

Submandibular Adenitis

Submandibular Lymphadenitis

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Paraphimosis
Robinow Syndrome, Autosomal Dominant 1

Autosomal Dominant Robinow Syndrome 1

DRS1

Robinow Dwarfism

Fetal Face Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Robinow, Autosomal Dominant Syndrome, Type 1

Corneal Dystrophy, Band-Shaped

Band Keratopathy

Band-Shaped Keratopathy

Cystic Echinococcosis

Echinococcus Granulosus Infection

Echinococcus Granulosus Infection Of Lung

Echinococcus Granulosus

Echinococcus Granulosus Infection Of Thyroid

Echinococcus Granulosus Infectious Disease

Echinococcus Granulosus Infectious Disease Of Liver

Echinococcus Granulosus Infectious Disease Of Thyroid

Liver Echinococcus Granulosus

Lung Echinococcus Granulosus

Thyroid Echinococcus Granulosus

Unilocular Echinococcosis

Unilocular Hydatid Disease

Hydatid Disease

Hydatidosis

Echinococcosis

Limited Scleroderma

Limited Cutaneous Systemic Sclerosis

Limited Systemic Sclerosis

Systemic Sclerosis Sine Scleroderma

Crest Syndrome

Limited Cutaneous Systemic Scleroderma

Scleroderma, Limited

Systemic Sclerosis, Limited

Progressive Systemic Sclerosis Sine Scleroderma

Scleroderma, Sine

Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome

Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

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 WDR11 MGD MGI:1920230
Felis catus WDR11 VGNC VGNC:67014
Canis familiaris WDR11 VGNC VGNC:48350
Rattus norvegicus WDR11 RGD RGD:1587347
Bos taurus WDR11 VGNC VGNC:36881
Macaca mulatta WDR11 VGNC VGNC:78936