Human Gene WDR43 (ENST00000407426.8) from GENCODE V44
  Description: Homo sapiens WD repeat domain 43 (WDR43), mRNA. (from RefSeq NM_015131)
Gencode Transcript: ENST00000407426.8
Gencode Gene: ENSG00000163811.12
Transcript (Including UTRs)
   Position: hg38 chr2:28,894,667-28,948,219 Size: 53,553 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg38 chr2:28,894,699-28,946,779 Size: 52,081 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:28,894,667-28,948,219)mRNA (may differ from genome)Protein (677 aa)
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-  Comments and Description Text from UniProtKB
  ID: WDR43_HUMAN
DESCRIPTION: RecName: Full=WD repeat-containing protein 43;
SUBCELLULAR LOCATION: Nucleus, nucleolus.
SIMILARITY: Belongs to the UTP5 family.
SIMILARITY: Contains 6 WD repeats.
SEQUENCE CAUTION: Sequence=BAA05499.1; Type=Erroneous initiation; Sequence=BAA05499.1; Type=Frameshift; Positions=614, 617;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: WDR43
Diseases sorted by gene-association score: treacher collins syndrome 1 (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.45 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 352.10 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.2032-0.225 Picture PostScript Text
3' UTR -335.001440-0.233 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007148 - SSU_processome_Utp12
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF04003 - Dip2/Utp12 Family
PF00400 - WD domain, G-beta repeat

ModBase Predicted Comparative 3D Structure on Q15061
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
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Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
AlignmentAlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006364 rRNA processing
GO:0042254 ribosome biogenesis
GO:0045943 positive regulation of transcription from RNA polymerase I promoter
GO:2000234 positive regulation of rRNA processing

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus


-  Descriptions from all associated GenBank mRNAs
  D26488 - Homo sapiens KIAA0007 mRNA.
JD543714 - Sequence 524738 from Patent EP1572962.
AB383703 - Synthetic construct DNA, clone: pF1KSDA0007, Homo sapiens WDR43 gene for WD repeat protein 43, complete cds, without stop codon, in Flexi system.
BC172316 - Synthetic construct Homo sapiens clone IMAGE:100069010, MGC:199021 WD repeat domain 43 (WDR43) mRNA, encodes complete protein.
BC033206 - Homo sapiens WD repeat domain 43, mRNA (cDNA clone IMAGE:4902465).
AK000836 - Homo sapiens cDNA FLJ20829 fis, clone ADKA03163, highly similar to D26488 Human mRNA for KIAA0007 gene.
D87716 - Homo sapiens mRNA for KIAA0007 gene, partial cds.
BC024234 - Homo sapiens WD repeat domain 43, mRNA (cDNA clone IMAGE:4699864), partial cds.
JD154630 - Sequence 135654 from Patent EP1572962.
JD349612 - Sequence 330636 from Patent EP1572962.
JD370743 - Sequence 351767 from Patent EP1572962.
JD173255 - Sequence 154279 from Patent EP1572962.
JD344799 - Sequence 325823 from Patent EP1572962.
JD467827 - Sequence 448851 from Patent EP1572962.
JD202877 - Sequence 183901 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15061 (Reactome details) participates in the following event(s):

R-HSA-6790906 EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-6790901 rRNA modification in the nucleus and cytosol
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-72312 rRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000407426.1, ENST00000407426.2, ENST00000407426.3, ENST00000407426.4, ENST00000407426.5, ENST00000407426.6, ENST00000407426.7, KIAA0007, NM_015131, Q15061, Q15395, Q92577, uc002rmo.1, uc002rmo.2, uc002rmo.3, uc002rmo.4, WDR43_HUMAN
UCSC ID: ENST00000407426.8
RefSeq Accession: NM_015131
Protein: Q15061 (aka WDR43_HUMAN or WD43_HUMAN)
CCDS: CCDS46251.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.