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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 rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and binding.

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

Genomics for WDR43 Gene

Regulatory Elements for WDR43 Gene

Enhancers for WDR43 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G028646 1.6 Ensembl ENCODE dbSUPER 30.8 -245.9 -245905 4.1 FOXA2 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 WDR43 ENSG00000230730 PPP1CB LOC100505774 FOSL2 FLJ31356 TRMT61B PLB1 SNRPGP7
GH02G028713 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.2 -178.7 -178652 5.4 PKNOX1 ATF1 SIN3A FEZF1 BRCA1 ZNF2 YY1 GTF3C2 FOS ZNF263 TRMT61B WDR43 FOSL2 PPP1CB ENSG00000230730 RNA5SP89
GH02G028893 1.1 ENCODE 21.5 +0.9 933 3.3 PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 TOGARAM2 WDR43 TRMT61B GC02P028913
GH02G028358 2 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -534.3 -534289 4.0 HDGF FOXA2 PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A ZNF2 ZNF766 FOSL2 LOC100505716 GPN1 FLJ31356 WDR43 CCDC121 RBKS NRBP1 TRMT61B PPP1CB
GH02G028868 1.1 ENCODE 19.2 -24.5 -24544 2.2 PKNOX1 MLX CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 TRMT61B TOGARAM2 WDR43 FOSL2 FLJ31356 ENSG00000273233
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WDR43 on UCSC Golden Path with GeneCards custom track

Promoters for WDR43 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114662 458 2600 PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9

Genomic Location for WDR43 Gene

Chromosome:
2
Start:
28,894,643 bp from pter
End:
28,948,222 bp from pter
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:
    • Forms a complex with UTP4, NOL11, UTP15 and WDR75.
    SequenceCaution:
    • 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 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

Gene Families for WDR43 Gene

Suggested Antigen Peptide Sequences for WDR43 Gene

Graphical View of Domain Structure for InterPro Entry

Q15061

UniProtKB/Swiss-Prot:

WDR43_HUMAN :
  • Belongs to the UTP5 family.
Family:
  • Belongs to the UTP5 family.
genes like me logo Genes that share domains with WDR43: view

Function for WDR43 Gene

Gene Ontology (GO) - Molecular Function for WDR43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding 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

Clone Products

No data available for Molecular function , 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

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

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 IDA,IEA 17699751
genes like me logo Genes that share ontologies with WDR43: view

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:0006364 rRNA processing TAS --
GO:0045943 positive regulation of transcription from RNA polymerase I promoter IMP 17699751
GO:2000234 positive regulation of rRNA processing 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

Clone Products

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

No ASD Table

Relevant External Links for WDR43 Gene

GeneLoc Exon Structure for
WDR43
ECgene alternative splicing isoforms for
WDR43

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:

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 34 35
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia WDR43 34 35
  • 90.98 (n)
dog
(Canis familiaris)
Mammalia WDR43 34 35
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia Wdr43 34 16 35
  • 84.44 (n)
rat
(Rattus norvegicus)
Mammalia Wdr43 34
  • 83.68 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR43 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR43 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR43 34 35
  • 71.87 (n)
lizard
(Anolis carolinensis)
Reptilia WDR43 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr43 34
  • 63.95 (n)
zebrafish
(Danio rerio)
Actinopterygii wdr43 34 35
  • 59.94 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG30349 34 35
  • 40.33 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010698 34
  • 38.78 (n)
worm
(Caenorhabditis elegans)
Secernentea T10B5.3 35
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP5 34 35 37
  • 43.3 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06633g 34
  • 41.46 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR398W 34
  • 39.29 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11240 34
  • 41.54 (n)
rice
(Oryza sativa)
Liliopsida Os03g0300300 34
  • 41.7 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes utp5 34
  • 39.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5747 35
  • 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)

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 Sequence Context AA Info Type
rs1000052079 -- 28,928,124(+) GTGTT(C/G/T)ATGAT intron-variant
rs1000056693 -- 28,921,971(+) GGCCA(A/G)AGTGC intron-variant
rs1000105066 -- 28,894,627(+) TCCTC(C/T)TCCAG upstream-variant-2KB
rs1000151953 -- 28,911,546(+) ACCTC(A/G)GCTTC intron-variant
rs1000235934 -- 28,939,602(+) GGGGA(C/T)TCAGC 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)

Relevant External Links for WDR43 Gene

Human Gene Mutation Database (HGMD)
WDR43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR43

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: DISEASES and GeneCards

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

Relevant External Links for WDR43

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 Res. 1994) 2 3 4 64
  2. 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. (Biochem. Cell Biol. 2013) 3 4 64
  3. NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing. (PMID: 22916032) Freed E.F. … Baserga S.J. (PLoS Genet. 2012) 3 4 64
  4. 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 J.L. … McStay B. (Genes Dev. 2007) 2 3 64
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64

Products for WDR43 Gene

Sources for WDR43 Gene

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