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Aliases for WDR43 Gene

Aliases for WDR43 Gene

  • WD Repeat Domain 43 2 3 5
  • U3 Small Nucleolar RNA-Associated Protein 5 Homolog 3 4
  • UTP5 3 4
  • UTP5, Small Subunit (SSU) Processome Component, Homolog (Yeast) 2
  • UTP5, Small Subunit (SSU) Processome Component, Homolog 3
  • WD Repeat-Containing Protein 43 3
  • KIAA0007 4
  • NET12 3

External Ids for WDR43 Gene

Previous GeneCards Identifiers for WDR43 Gene

  • GC02P029004
  • GC02P028946
  • GC02P029117

Summaries for WDR43 Gene

GeneCards Summary for WDR43 Gene

WDR43 (WD Repeat Domain 43) is a Protein Coding gene. Diseases associated with WDR43 include Treacher Collins Syndrome 1. Among its related pathways are Gene Expression and rRNA processing in the nucleus and cytosol. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot for WDR43 Gene

  • Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I.

Additional gene information for WDR43 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR43 Gene

Genomics for WDR43 Gene

GeneHancer (GH) Regulatory Elements for WDR43 Gene

Promoters and enhancers for WDR43 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I028893 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 559.5 +0.9 860 3.4 PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 WDR43 TOGARAM2 TRMT61B GC02P028913
GH02I028389 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.7 -499.3 -499283 12.5 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 FOSL2 ENSG00000270640 FLJ31356 GPN1 SUPT7L NRBP1 ZNF512 PLB1 WDR43 IFT172
GH02I028868 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.2 -24.5 -24543 2.2 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 TRMT61B TOGARAM2 WDR43 FOSL2 FLJ31356 ENSG00000273233
GH02I028358 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11 -534.3 -534289 4 PKNOX1 CLOCK SMAD1 FOXA2 ARID4B NEUROD1 ZNF766 ZNF143 FOS JUNB FOSL2 EIF2B4 LOC100505716 FLJ31356 TRMT61B WDR43 GPN1 RBKS SUPT7L ZNF512
GH02I028364 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -528.1 -528129 3.4 HDGF ATF1 ARNT TCF12 POLR2B ZNF766 GATA2 ATF7 RXRA NCOA1 SNX17 NRBP1 GPN1 FOSL2 EIF2B4 ZNF513 FLJ31356 PPM1G WDR43 LOC105374382
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WDR43 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WDR43 gene promoter:

Genomic Locations for WDR43 Gene

Genomic Locations for WDR43 Gene
53,580 bases
Plus strand

Genomic View for WDR43 Gene

Genes around WDR43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR43 Gene

Proteins for WDR43 Gene

  • Protein details for WDR43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    WD repeat-containing protein 43
    Protein Accession:
    Secondary Accessions:
    • Q15395
    • Q92577

    Protein attributes for WDR43 Gene

    677 amino acids
    Molecular mass:
    74891 Da
    Quaternary structure:
    • Interacts directly with UTP4 and UTP15 (PubMed:24219289). May be a component of the proposed t-UTP subcomplex of the ribosomal small subunit (SSU) processome containing at least UTP4, WDR43, HEATR1, UTP15, WDR75 (PubMed:17699751, PubMed:22916032).
    • Sequence=BAA05499.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA05499.1; Type=Frameshift; Positions=614, 617; Evidence={ECO:0000305};

neXtProt entry for WDR43 Gene

Post-translational modifications for WDR43 Gene

  • Ubiquitination at isoforms=181 and posLast=191191

Other Protein References for WDR43 Gene

No data available for DME Specific Peptides for WDR43 Gene

Domains & Families for WDR43 Gene

Gene Families for WDR43 Gene

Suggested Antigen Peptide Sequences for WDR43 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UTP5 family.
  • Belongs to the UTP5 family.
genes like me logo Genes that share domains with WDR43: view

Function for WDR43 Gene

Molecular function for WDR43 Gene

UniProtKB/Swiss-Prot Function:
Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I.

Phenotypes From GWAS Catalog for WDR43 Gene

Gene Ontology (GO) - Molecular Function for WDR43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22658674
GO:0005515 protein binding IPI 22916032
genes like me logo Genes that share ontologies with WDR43: view
genes like me logo Genes that share phenotypes with WDR43: view

Animal Model Products

CRISPR Products

miRNA for WDR43 Gene

miRTarBase miRNAs that target WDR43

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR43 Gene

Localization for WDR43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR43 Gene

Nucleus, nucleolus. Note=Found predominantly at the fibrillar center. {ECO:0000269 PubMed:24219289}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WDR43 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for WDR43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA 24219289
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA,IDA 17699751
genes like me logo Genes that share ontologies with WDR43: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WDR43 Gene

Pathways & Interactions for WDR43 Gene

genes like me logo Genes that share pathways with WDR43: view

Gene Ontology (GO) - Biological Process for WDR43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006364 rRNA processing TAS --
GO:0042254 ribosome biogenesis IEA --
GO:0045943 positive regulation of transcription by RNA polymerase I IMP 17699751
genes like me logo Genes that share ontologies with WDR43: view

No data available for SIGNOR curated interactions for WDR43 Gene

Drugs & Compounds for WDR43 Gene

No Compound Related Data Available

Transcripts for WDR43 Gene

Unigene Clusters for WDR43 Gene

WD repeat domain 43:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for WDR43 Gene

No ASD Table

Relevant External Links for WDR43 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for WDR43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WDR43 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WDR43 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.5) and Lung (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WDR43 Gene

Protein tissue co-expression partners for WDR43 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WDR43 Gene:


SOURCE GeneReport for Unigene cluster for WDR43 Gene:


Evidence on tissue expression from TISSUES for WDR43 Gene

  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with WDR43: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR43 Gene

Orthologs for WDR43 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for WDR43 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia WDR43 33 34
  • 99.56 (n)
(Bos Taurus)
Mammalia WDR43 33 34
  • 90.98 (n)
(Canis familiaris)
Mammalia WDR43 33 34
  • 89.35 (n)
(Mus musculus)
Mammalia Wdr43 33 16 34
  • 84.44 (n)
(Rattus norvegicus)
Mammalia Wdr43 33
  • 83.68 (n)
(Monodelphis domestica)
Mammalia WDR43 34
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia WDR43 34
  • 75 (a)
(Gallus gallus)
Aves WDR43 33 34
  • 71.87 (n)
(Anolis carolinensis)
Reptilia WDR43 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr43 33
  • 63.95 (n)
(Danio rerio)
Actinopterygii wdr43 33 34
  • 59.94 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG30349 33 34
  • 40.33 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010698 33
  • 38.78 (n)
(Caenorhabditis elegans)
Secernentea T10B5.3 34
  • 25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP5 33 34 36
  • 43.3 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06633g 33
  • 41.46 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR398W 33
  • 39.29 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11240 33
  • 41.54 (n)
(Oryza sativa)
Liliopsida Os03g0300300 33
  • 41.7 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes utp5 33
  • 39.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5747 34
  • 29 (a)
Species where no ortholog for WDR43 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WDR43 Gene

Gene Tree for WDR43 (if available)
Gene Tree for WDR43 (if available)

Paralogs for WDR43 Gene

No data available for Paralogs for WDR43 Gene

Variants for WDR43 Gene

Sequence variations from dbSNP and Humsavar for WDR43 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000052079 -- 28,928,124(+) T/C/G intron_variant
rs1000056693 -- 28,921,971(+) A/G intron_variant
rs1000105066 -- 28,894,627(+) C/T upstream_transcript_variant
rs1000151953 -- 28,911,546(+) G/A intron_variant
rs1000235934 -- 28,939,602(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for WDR43 Gene

Variant ID Type Subtype PubMed ID
esv1693261 CNV deletion 17803354
esv2719844 CNV deletion 23290073
nsv1008490 CNV gain 25217958
nsv817695 CNV gain 17921354

Variation tolerance for WDR43 Gene

Residual Variation Intolerance Score: 74.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WDR43 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR43 Gene

Disorders for WDR43 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WDR43 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
treacher collins syndrome 1
  • tcs1
- elite association - COSMIC cancer census association via MalaCards
Search WDR43 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WDR43

genes like me logo Genes that share disorders with WDR43: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WDR43 Gene

Publications for WDR43 Gene

  1. Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cells. (PMID: 17699751) Prieto JL … McStay B (Genes & development 2007) 2 3 4 58
  2. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PMID: 7584026) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 2 3 4 58
  3. Interaction, mobility, and phosphorylation of human orthologues of WD repeat-containing components of the yeast SSU processome t-UTP sub-complex. (PMID: 24219289) Sato M … Horigome T (Biochemistry and cell biology = Biochimie et biologie cellulaire 2013) 3 4 58
  4. NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing. (PMID: 22916032) Freed EF … Baserga SJ (PLoS genetics 2012) 3 4 58
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58

Products for WDR43 Gene

Sources for WDR43 Gene

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