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
  • WD Repeat-Containing Protein 43 3 4
  • UTP5 3 4
  • UTP5, Small Subunit (SSU) Processome Component, Homolog (Yeast) 2
  • UTP5, Small Subunit (SSU) Processome Component, Homolog 3
  • KIAA0007 4
  • NET12 3

External Ids for WDR43 Gene

Previous GeneCards Identifiers for WDR43 Gene

  • GC02P029004
  • GC02P028946
  • GC02P029117
  • GC02P028859

Summaries for WDR43 Gene

GeneCards Summary for WDR43 Gene

WDR43 (WD Repeat Domain 43) is a Protein Coding gene. Diseases associated with WDR43 include Orofacial Cleft 15 and Acrofacial Dysostosis, Cincinnati Type. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is MAPKBP1.

UniProtKB/Swiss-Prot Summary for WDR43 Gene

  • Ribosome biogenesis factor that coordinates hyperactive transcription and ribogenesis (PubMed:17699751). Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I (PubMed:17699751). Essential for stem cell pluripotency and embryonic development. In the nucleoplasm, recruited by promoter-associated/nascent transcripts and transcription to active promoters where it facilitates releases of elongation factor P-TEFb and paused RNA polymerase II to allow transcription elongation and maintain high-level expression of its targets genes (By similarity).

Additional gene information for WDR43 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J028893 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 520.3 +1.1 1080 4.2 ZBTB40 ZNF217 TCF12 NRF1 MYC USF1 POLR2G SP1 GTF2E2 PHF8 WDR43 TOGARAM2 TRMT61B FOSL2 piR-44085-013
GH02J028868 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 42.6 -24.9 -24943 3.8 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 MYC TCF12 POLR2G SP1 TRMT61B lnc-SPDYA-3 WDR43 TOGARAM2 FOSL2 FLJ31356 lnc-C2orf71-3
GH02J028389 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.7 -499.3 -499283 12.5 EP300 FOXK2 ZNF217 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G SP1 FOSL2 ENSG00000270640 SUPT7L GPN1 IFT172 NRBP1 ZNF512 PLB1 WDR43 ENSG00000270210
GH02J028802 Enhancer 1 FANTOM5 Ensembl ENCODE 16.3 -92.0 -92043 2.8 RFX1 TBX3 FOXA2 ZNF316 MAFF FOS NFE2 MAFK NFE2L1 MAFG TRMT61B WDR43 PPP1CB SPDYA ENSG00000230730 FOSL2 ENSG00000273233
GH02J028376 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -514.9 -514902 8.3 ZNF217 ZFX ZIC2 POLR2A CLOCK ZBTB11 TCF7 KLF4 RFX1 MYC GPN1 NRBP1 FLJ31356 WDR43 ENSG00000270210 FOSL2 RBKS PPP1CB BABAM2 LOC105374383
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDR43 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WDR43

Top Transcription factor binding sites by QIAGEN in the WDR43 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • c-Myb
  • LCR-F1
  • Lmo2
  • NF-1
  • NF-1/L
  • Pax-4a

Genomic Locations for WDR43 Gene

Genomic Locations for WDR43 Gene
chr2:28,894,643-28,948,220
(GRCh38/hg38)
Size:
53,578 bases
Orientation:
Plus strand
chr2:29,117,509-29,171,088
(GRCh37/hg19)
Size:
53,580 bases
Orientation:
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:
    Q15061-WDR43_HUMAN
    Recommended name:
    WD repeat-containing protein 43
    Protein Accession:
    Q15061
    Secondary Accessions:
    • Q15395
    • Q92577

    Protein attributes for WDR43 Gene

    Size:
    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). Binds to RNA; binding is required for its chromatin association. Interacts with CDK9, DDX21 and SUPT6H. Interacts with RNA polymerase II (By similarity).
    SequenceCaution:
    • Sequence=BAA05499.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA05499.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for WDR43 Gene

Post-translational modifications for WDR43 Gene

  • Ubiquitination at Lys181 and Lys191
  • Modification sites at PhosphoSitePlus

Other Protein References for WDR43 Gene

No data available for DME Specific Peptides for WDR43 Gene

Domains & Families for WDR43 Gene

Protein Domains for WDR43 Gene

Blocks:
  • Protein of unknown function NUC189, C-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WDR43 Gene

GenScript: Design optimal peptide antigens:
  • WDR43 protein (Q8TB67_HUMAN)
  • WD repeat-containing protein 43 (WDR43_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15061

UniProtKB/Swiss-Prot:

WDR43_HUMAN :
  • N-terminal domain is required for nucleoplasm location and C-terminal domain for nucleolus location.
  • Belongs to the UTP5 family.
Domain:
  • N-terminal domain is required for nucleoplasm location and C-terminal domain for nucleolus location.
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 that coordinates hyperactive transcription and ribogenesis (PubMed:17699751). Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I (PubMed:17699751). Essential for stem cell pluripotency and embryonic development. In the nucleoplasm, recruited by promoter-associated/nascent transcripts and transcription to active promoters where it facilitates releases of elongation factor P-TEFb and paused RNA polymerase II to allow transcription elongation and maintain high-level expression of its targets genes (By similarity).

Phenotypes From GWAS Catalog for WDR43 Gene

Gene Ontology (GO) - Molecular Function for WDR43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 RNA polymerase II complex binding IEA,ISS --
GO:0003711 transcription elongation regulator activity IEA,ISS --
GO:0003723 RNA binding HDA,IEA 22658674
GO:0005515 protein binding IPI,IEA 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR43

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. Nucleus, nucleolus fibrillar center. Nucleus, nucleoplasm.

Subcellular locations from

COMPARTMENTS
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
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for WDR43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISS --
GO:0001650 fibrillar center IDA,IEA 24219289
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA,IEA 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:0006364 rRNA processing TAS --
GO:0034243 regulation of transcription elongation from RNA polymerase II promoter IEA,ISS --
GO:0042254 ribosome biogenesis IEA --
GO:0045943 positive regulation of transcription by RNA polymerase I IMP 17699751
GO:2000036 regulation of stem cell population maintenance ISS,IEA --
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

mRNA/cDNA for WDR43 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR43

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

No ASD Table

Relevant External Links for WDR43 Gene

GeneLoc Exon Structure for
WDR43

Expression for WDR43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for WDR43 Gene



Protein tissue co-expression partners for WDR43 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WDR43

SOURCE GeneReport for Unigene cluster for WDR43 Gene:

Hs.709228

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
chimpanzee
(Pan troglodytes)
Mammalia WDR43 31 30
  • 99.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WDR43 31 30
  • 90.98 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WDR43 31 30
  • 89.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr43 17 31 30
  • 84.44 (n)
rat
(Rattus norvegicus)
Mammalia Wdr43 30
  • 83.68 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR43 31
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR43 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR43 31 30
  • 71.87 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR43 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr43 30
  • 63.95 (n)
zebrafish
(Danio rerio)
Actinopterygii wdr43 31 30
  • 59.94 (n)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta CG30349 31 30
  • 40.33 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010698 30
  • 38.78 (n)
worm
(Caenorhabditis elegans)
Secernentea T10B5.3 31
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP5 33 31 30
  • 43.3 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06633g 30
  • 41.46 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR398W 30
  • 39.29 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11240 30
  • 41.54 (n)
rice
(Oryza sativa)
Liliopsida Os03g0300300 30
  • 41.7 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes utp5 30
  • 39.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5747 31
  • 29 (a)
OneToOne
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

ENSEMBL:
Gene Tree for WDR43 (if available)
TreeFam:
Gene Tree for WDR43 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WDR43: view image

Paralogs for WDR43 Gene

Variants for WDR43 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WDR43 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
777944 Benign: not provided 28,906,450(+) T/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for WDR43 Gene

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)
WDR43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR43

SNP Genotyping and Copy Number Assay Products

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

Disorders for WDR43 Gene

MalaCards: The human disease database

(5) MalaCards diseases for WDR43 Gene - From: DISEASES

Disorder Aliases PubMed IDs
orofacial cleft 15
  • ofc15
acrofacial dysostosis, cincinnati type
  • afdcin
treacher collins syndrome 1
  • tcs1
3mc syndrome
  • oculopalatoskeletal syndrome
cleft palate, isolated
  • cpi
- 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 54
  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 54
  3. RNA Targets Ribogenesis Factor WDR43 to Chromatin for Transcription and Pluripotency Control. (PMID: 31128943) Bi X … Shen X (Molecular cell 2019) 3 4 54
  4. 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 54
  5. 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 54

Products for WDR43 Gene

Sources for WDR43 Gene