1. Gene
  2. WDR20 - WD repeat domain 20 Gene

WDR20 - WD repeat domain 20 Gene

中文名称:WD 重复域 20

种属: Homo sapiens

同用名: DMR; Bun107

基因 ID: 91833 | 基因类型: protein coding

关于 WDR20

Cytogenetic location: 14q32.31 Genomic coordinates (GRCh38): 14:102,139,423-102,224,839 (from NCBI)

This gene has 20 transcripts (splice variants), 285 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 5.3), thyroid (RPKM 3.2) and 25 other tissues.

功能概要

该基因编码一种含有 WD 重复序列的蛋白质,其功能是保护和调节 USP12-UAF1 去泛素化酶复合物的活性。已发现该基因的多个选择性剪接转录物变体。[RefSeq 提供,2011 年 6 月]

This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating Enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]

WDR20 基因产物(36)

mRNA Protein Name
NM_001242414.2 NP_001229343.1 WD repeat-containing protein 20 isoform 4
NM_001242415.2 NP_001229344.1 WD repeat-containing protein 20 isoform 5
NM_001242416.2 NP_001229345.1 WD repeat-containing protein 20 isoform 6
NM_001242417.2 NP_001229346.1 WD repeat-containing protein 20 isoform 7
NM_001242418.2 NP_001229347.1 WD repeat-containing protein 20 isoform 8
NM_001320130.2 NP_001307059.1 WD repeat-containing protein 20 isoform 10
NM_001330228.3 NP_001317157.1 WD repeat-containing protein 20 isoform 11
NM_001353656.2 NP_001340585.1 WD repeat-containing protein 20 isoform 12
NM_001353657.2 NP_001340586.1 WD repeat-containing protein 20 isoform 13
NM_001353658.2 NP_001340587.1 WD repeat-containing protein 20 isoform 14
NM_001353659.2 NP_001340588.1 WD repeat-containing protein 20 isoform 15
NM_001353660.2 NP_001340589.1 WD repeat-containing protein 20 isoform 16
NM_001353661.2 NP_001340590.1 WD repeat-containing protein 20 isoform 17
NM_001353662.2 NP_001340591.1 WD repeat-containing protein 20 isoform 18
NM_001353663.2 NP_001340592.1 WD repeat-containing protein 20 isoform 18
NM_001353664.2 NP_001340593.1 WD repeat-containing protein 20 isoform 18
NM_001353665.2 NP_001340594.1 WD repeat-containing protein 20 isoform 18
NM_001353666.2 NP_001340595.1 WD repeat-containing protein 20 isoform 18
NM_001353667.2 NP_001340596.1 WD repeat-containing protein 20 isoform 19
NM_001353668.2 NP_001340597.1 WD repeat-containing protein 20 isoform 20
NM_001353669.2 NP_001340598.1 WD repeat-containing protein 20 isoform 20
NM_001353670.2 NP_001340599.1 WD repeat-containing protein 20 isoform 20
NM_001353671.2 NP_001340600.1 WD repeat-containing protein 20 isoform 20
NM_001353672.2 NP_001340601.1 WD repeat-containing protein 20 isoform 20
NM_001353673.2 NP_001340602.1 WD repeat-containing protein 20 isoform 20
NM_001353674.2 NP_001340603.1 WD repeat-containing protein 20 isoform 20
NM_001353675.2 NP_001340604.1 WD repeat-containing protein 20 isoform 21
NM_001353676.2 NP_001340605.1 WD repeat-containing protein 20 isoform 22
NM_001353677.2 NP_001340606.1 WD repeat-containing protein 20 isoform 22
NM_001353678.2 NP_001340607.1 WD repeat-containing protein 20 isoform 22
NM_001353679.2 NP_001340608.1 WD repeat-containing protein 20 isoform 23
NM_001353680.2 NP_001340609.1 WD repeat-containing protein 20 isoform 24
NM_001353681.2 NP_001340610.1 WD repeat-containing protein 20 isoform 4
NM_144574.4 NP_653175.2 WD repeat-containing protein 20 isoform 2
NM_181291.3 NP_851808.1 WD repeat-containing protein 20 isoform 1
NM_181308.3 NP_851825.1 WD repeat-containing protein 20 isoform 3
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables deubiquitinase activator activity IDA
IDA: 通过直接分析推断
20147737 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19615732 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
30466959 GOA
located in nucleus IDA
IDA: 通过直接分析推断
30466959 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

WDR20 蛋白结构

WD40

WD40: WD domain, G-beta repeat (215 - 248)

WD40

WD40: WD domain, G-beta repeat (265 - 290)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 569 a.a.
蛋白主名 其他名称

WD repeat-containing protein 20

WDR20 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
WDR20 Q8TBZ3 USP12 Homo sapiens O75317 19615732
种属内
WDR20 Q8TBZ3 USP12 Homo sapiens O75317 33961781
种属内
WDR20 Q8TBZ3 USP46 Homo sapiens P62068 33961781
种属内
WDR20 Q8TBZ3 DAPP1 Homo sapiens Q9UN19 25814554
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
Temple Syndrome

Uniparental Disomy, Maternal, Chromosome 14

Temple Syndrome Due To Paternal 14q32.2 Microdeletion

Paternal Del(14)(Q32.2)

Temple Syndrome Due To Paternal 14q32.2 Hypomethylation

Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14

Upd(14)Mat

Kagami-Ogata Syndrome

Paternal Uniparental Disomy Of Chromosome 14

Uniparental Disomy, Paternal, Chromosome 14

Kos

Mca Due To 14q32.2 Maternally Expressed Gene Defect

Paternal Uniparental Disomy 14

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion

Maternal Del(14)(Q32.2)

Maternal Monosomy 14q32.2

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation

Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14

Upd(14)Pat

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal

Tndm

Chromosome 6-Associated Transient Diabetes Mellitus

Dmtn

Diabetes Mellitus, 6q24-Related Transient Neonatal

Tndm1

Neonatal Diabetes Mellitus, Transient

Tndm -[Transient Neonatal Diabetes Mellitus]

Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii

OI3

Oi, Type Iii

Osteogenesis Imperfecta Type 3

Oi Type Iii

Oi Type 3

Progressive Deforming Osteogenesis Imperfecta

Severe Osteogenesis Imperfecta

Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

Progressively Deforming Oi

Osteogenesis Imperfecta 3

Oi-Iii

Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Polyhydramnios
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
Macaca mulatta WDR20 VGNC VGNC:79196
Felis catus WDR20 VGNC VGNC:67020
Rattus norvegicus WDR20 RGD RGD:1306499
Bos taurus WDR20 VGNC VGNC:50061
Canis familiaris WDR20 VGNC VGNC:49741
Mus musculus WDR20 MGD MGI:1916891