WDR43 - WD repeat domain 43 Gene

Homo sapiens

Also known as UTP5; NET12

Gene ID: 23160 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22916032	GOA

Biological Process GO Annotation	Evidence	Reference	Source
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	Reference	Source
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

Utp12

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15779	WDR43 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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