2. Gene
  3. WDR43 - WD repeat domain 43 Gene

WDR43 - WD repeat domain 43 Gene

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

中文名称：WD 重复域 43

种属: Homo sapiens

同用名: UTP5; NET12

基因 ID: 23160 | 基因类型: protein coding

关于 WDR43

Cytogenetic location: 2p23.2 Genomic coordinates (GRCh38): 2:28,894,667-28,948,219 (from NCBI)

This gene has 6 transcripts (splice variants), 203 orthologues and 26 paralogues. Ubiquitous expression in bone marrow (RPKM 11.4), appendix (RPKM 11.1) and 25 other tissues.

功能概要

启用 RNA 结合活性。参与 rRNA 加工的正调控和 RNA 聚合酶 I 转录的正调控。位于纤维中心。 [由基因组资源联盟提供，2022 年 4 月]

Enables RNA binding activity. Involved in positive regulation of rRNA processing and positive regulation of transcription by RNA polymerase I. Located in fibrillar center. [provided by Alliance of Genome Resources, Apr 2022]

WDR43 基因产物(1)

mRNA Protein Name
NM_015131.3 NP_055946.1 WD repeat-containing protein 43
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
22916032 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of rRNA processing IMP
IMP: 通过突变表型推断
17699751 GOA
involved in positive regulation of transcription by RNA polymerase I IMP
IMP: 通过突变表型推断
17699751 GOA
involved in ribosomal small subunit biogenesis IDA
IDA: 通过直接分析推断
34516797 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in fibrillar center IDA
IDA: 通过直接分析推断
24219289 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
17699751 GOA
part of small-subunit processome IDA
IDA: 通过直接分析推断
34516797 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

WDR43 蛋白结构

WD40

WD40: WD domain, G-beta repeat (119 - 154)

WD40

WD40: WD domain, G-beta repeat (159 - 193)

Utp12

Utp12: Dip2/Utp12 Family (473 - 578)

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

WD repeat-containing protein 43

U3 small nucleolar RNA-associated protein 5 homolog

WDR43 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
WDR43 Q15061 UTP15 Homo sapiens Q8TED0
Pull Down
24219289
种属内
WDR43 Q15061 UTP15 Homo sapiens Q8TED0
Anti Tag CoIP
33961781
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
Diamond-Blackfan Anemia 2

DBA2

Anemia, Diamond-Blackfan, 2

Anemia Diamond-Blackfan 2
Orofacial Cleft 15

OFC15

Non-Syndromic Orofacial Cleft 15
Kidney Rhabdoid Cancer

Rhabdoid Tumor Of The Kidney

Kidney Rhabdoid Tumor

Renal Rhabdoid Tumor
Multiple Benign Circumferential Skin Creases On Limbs

Ccsf

Circumferential Skin Creases, Kunze Type

Congenital Circumferential Skin Folds

Kunze-Riehm Syndrome

Kunze Riehm Syndrome

Michelin Tire Baby Syndrome
3mc Syndrome

Craniofacial-Ulnar-Renal Syndrome

Malpuech Facial Clefting Syndrome

Oculopalatoskeletal Syndrome

Carnevale Syndrome

Michels Syndrome

Malpuech-Michels-Mingarelli-Carnevale Syndrome

Carnevale-Krajewska-Fischetto Syndrome

Craniosynostosis With Lid Anomalies

Malpuech Syndrome

Mingarelli Syndrome

Oculo-Skeletal-Abdominal Syndrome

Osa Syndrome

Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia

Ptosis-Strabismus-Rectus Abdominis Diastasis
Treacher Collins Syndrome 1

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia
Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate
Diamond-Blackfan Anemia 1

Aase Syndrome

DBA1

Erythrogenesis Imperfecta

Aase-Smith Syndrome Ii

Dba

Blackfan-Diamond Syndrome

Bds

Anemia, Congenital Hypoplastic, Of Blackfan And Diamond

Anemia, Congenital Erythroid Hypoplastic

Red Cell Aplasia, Pure, Hereditary

Aregenerative Anemia, Chronic Congenital

Rps19-Related Diamond-Blackfan Anemia

Chronic Congenital Aregenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Pure Hereditary Red Cell Aplasia

Anemia, Diamond-Blackfan, Type 1

Anemia, Diamond-Blackfan

Aase Smith Syndrome 2

Familial Hypoplastic Anaemia With Malformations

Constitutional Pure Red Cell Aplasia
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-RS15779 WDR43 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus WDR43 RGD RGD:1565005
Felis catus WDR43 VGNC VGNC:67032
Canis familiaris WDR43 VGNC VGNC:48367
Macaca mulatta WDR43 VGNC VGNC:79753
Bos taurus WDR43 VGNC VGNC:36899
Mus musculus WDR43 MGD MGI:1919765
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