WDR43 - WD repeat domain 43 Gene

Also Known as UTP5; NET12

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 23160

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_015131.3 NP_055946.1 WD repeat-containing protein 43

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
22916032 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in positive regulation of rRNA processing IMP
IMP: Inferred from mutant phenotype
17699751 GOA
involved in positive regulation of transcription by RNA polymerase I IMP
IMP: Inferred from mutant phenotype
17699751 GOA
involved in ribosomal small subunit biogenesis IDA
IDA: Inferred from direct assay
34516797 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in fibrillar center IDA
IDA: Inferred from direct assay
24219289 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
17699751 GOA
part of small-subunit processome IDA
IDA: Inferred from direct assay
34516797 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WDR43 Protein Structure

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.
Protein Preferred Names Protein Names

WD repeat-containing protein 43

  • U3 small nucleolar RNA-associated protein 5 homolog

WDR43 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
WDR43 Q15061 UTP15 Homo sapiens Q8TED0
Pull Down
24219289
Intra
WDR43 Q15061 UTP15 Homo sapiens Q8TED0
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS15779 WDR43 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others WDR43 NCBI