WDR43 WD repeat domain 43 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR43provided by HGNC
Official Full Name: WD repeat domain 43provided by HGNC
Primary source: HGNC:HGNC:28945
See related: Ensembl:ENSG00000163811 MIM:616195; AllianceGenome:HGNC:28945
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: UTP5; NET12
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]
Expression: Ubiquitous expression in bone marrow (RPKM 11.4), appendix (RPKM 11.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (28894667..28948219)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (28938252..28991773)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (29117533..29171085)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNA targets ribogenesis Factor WDR43 to chromatin for transcription and pluripotency control.
Title: RNA Targets Ribogenesis Factor WDR43 to Chromatin for Transcription and Pluripotency Control.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66494 (e-PCR)
- UniSTS:28708

RH68233 (e-PCR)
- UniSTS:72799

SHGC-144795 (e-PCR)
- UniSTS:172421

RH47397 (e-PCR)
- UniSTS:8840

RH25248 (e-PCR)
- UniSTS:44438

SHGC-56576 (e-PCR)
- UniSTS:64450

D2S2646 (e-PCR)
- UniSTS:31441

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA polymerase II complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription elongation factor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase I	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of stem cell population maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription elongation by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in ribosomal small subunit biogenesis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	ISS Inferred from Sequence or Structural Similarity more info
located_in fibrillar center	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of small-subunit processome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: WD repeat-containing protein 43

Names: U3 small nucleolar RNA-associated protein 5 homolog; UTP5, small subunit (SSU) processome component, homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_015131.3 → NP_055946.1 WD repeat-containing protein 43

See identical proteins and their annotated locations for NP_055946.1

Status: VALIDATED

Source sequence(s)

AC097720, AW593733, D26488, DA654485

Consensus CDS

CCDS46251.1

UniProtKB/Swiss-Prot

Q15061, Q15395, Q92577

Related

ENSP00000384302.3, ENST00000407426.8

Conserved Domains (4) summary

COG2319
Location:19 → 217

WD40; WD40 repeat [General function prediction only]

pfam04003
Location:474 → 570

Utp12; Dip2/Utp12 Family

sd00039
Location:19 → 57

7WD40; WD40 repeat [structural motif]

cl02567
Location:19 → 272

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...