2. Gene
  3. WDR48 - WD repeat domain 48 Gene

WDR48 - WD repeat domain 48 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：WD 重复域 48

种属: Homo sapiens

同用名: P80; UAF1; Bun62; SPG60

基因 ID: 57599 | 基因类型: protein coding

关于 WDR48

Cytogenetic location: 3p22.2 Genomic coordinates (GRCh38): 3:39,052,016-39,096,664 (from NCBI)

This gene has 10 transcripts (splice variants), 233 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 33.3), bone marrow (RPKM 19.8) and 25 other tissues.

功能概要

该基因编码的蛋白质已被证明与泛素特异性肽酶 1 (USP1) 相互作用，激活 USP1 的去泛素化活性，并允许它从单泛素化的 FANCD2 中去除泛素部分。 FANCD2 被泛素化以响应 DNA 损伤。[RefSeq 提供，2016 年 9 月]

The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016]

WDR48 基因产物(7)

mRNA Protein Name
NM_001303402.2 NP_001290331.1 WD repeat-containing protein 48 isoform 2
NM_001303403.2 NP_001290332.1 WD repeat-containing protein 48 isoform 3
NM_001346225.2 NP_001333154.1 WD repeat-containing protein 48 isoform 4
NM_001346226.2 NP_001333155.1 WD repeat-containing protein 48 isoform 5
NM_001346227.2 NP_001333156.1 WD repeat-containing protein 48 isoform 6
NM_001346228.2 NP_001333157.1 WD repeat-containing protein 48 isoform 7
NM_020839.4 NP_065890.1 WD repeat-containing protein 48 isoform 1
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 DNA binding IDA
IDA: 通过直接分析推断
31253762 GOA
enables deubiquitinase activator activity IDA
IDA: 通过直接分析推断
18082604 GOA
enables double-stranded DNA binding IDA
IDA: 通过直接分析推断
27239033 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18082604 GOA
enables single-stranded DNA binding IDA
IDA: 通过直接分析推断
27239033 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
27239033 GOA
involved in positive regulation of double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
27239033 GOA
involved in positive regulation of receptor signaling pathway via JAK-STAT IDA
IDA: 通过直接分析推断
37289831 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in cytoplasm IDA
IDA: 通过直接分析推断
18032488 GOA
located in nucleus IDA
IDA: 通过直接分析推断
18082604 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

WDR48 蛋白结构

WD40

WD40: WD domain, G-beta repeat (31 - 58)

WD40

WD40: WD domain, G-beta repeat (69 - 103)

WD40

WD40: WD domain, G-beta repeat (109 - 145)

WD40

WD40: WD domain, G-beta repeat (161 - 196)

WD40

WD40: WD domain, G-beta repeat (204 - 238)

WD40

WD40: WD domain, G-beta repeat (243 - 277)

DUF3337

DUF3337: Domain of unknown function (DUF3337) (366 - 676)

  • 0
  • 200
  • 400
  • 600
  • 677 a.a.
蛋白主名 其他名称

WD repeat-containing protein 48

USP1 associated factor 1

WDR48 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
WDR48 Q8TAF3 USP1 Homo sapiens O94782
Anti Tag CoIP
19615732
种属内
WDR48 Q8TAF3 USP1 Homo sapiens O94782
TAP
24981860
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
Autosomal Recessive Spastic Paraplegia Type 60

Spg60
Fanconi Anemia, Complementation Group I

Fanconi Anemia Complementation Group I

FANCI
Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease
Interstitial Nephritis, Karyomegalic

Karyomegalic Interstitial Nephritis

KMIN

Kin

Systemic Karyomegaly

Karyomegalic Tubulointerstitial Nephritis

Ktn
Fanconi Anemia, Complementation Group D2

Fanconi Anemia Complementation Group D2

FANCD2

Fad2

Fa4

Fancd

Fanconi Pancytopenia Type 4

Fanconi Anemia, Complementation Group D

Fanconi Pancytopenia, Type 4

Facd

Fanconi Anemia Complementation Group D
Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum
Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15784 WDR48 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta WDR48 VGNC VGNC:79899
Felis catus WDR48 VGNC VGNC:102866
Mus musculus WDR48 MGD MGI:1914811
Rattus norvegicus WDR48 RGD RGD:1309702
Bos taurus WDR48 VGNC VGNC:36904
Canis familiaris WDR48 VGNC VGNC:48371
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