Human Gene WDR73 (uc002bkw.2)
  Description: Homo sapiens WD repeat domain 73 (WDR73), mRNA.
RefSeq Summary (NM_032856): The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015].
Transcript (Including UTRs)
   Position: hg19 chr15:85,186,012-85,197,521 Size: 11,510 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr15:85,186,701-85,197,505 Size: 10,805 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:85,186,012-85,197,521)mRNA (may differ from genome)Protein (378 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WDR73_HUMAN
DESCRIPTION: RecName: Full=WD repeat-containing protein 73;
SIMILARITY: Belongs to the WD repeat WDR73 family.
SIMILARITY: Contains 3 WD repeats.
SEQUENCE CAUTION: Sequence=AAF28942.1; Type=Frameshift; Positions=374;

-  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: WDR73
Diseases sorted by gene-association score: galloway-mowat syndrome* (1400), moved to 251300* (350), autosomal recessive disease (6), nephrotic syndrome (5), microcephaly (3), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.58 RPKM in Pituitary
Total median expression: 467.54 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1.7016-0.106 Picture PostScript Text
3' UTR -223.93689-0.325 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
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

SCOP Domains:
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q6P4I2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0006997 nucleus organization
GO:0031122 cytoplasmic microtubule organization
GO:0043066 negative regulation of apoptotic process

Cellular Component:
GO:0000922 spindle pole
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0032154 cleavage furrow


-  Descriptions from all associated GenBank mRNAs
  BC020252 - Homo sapiens WD repeat domain 73, mRNA (cDNA clone IMAGE:4858895).
BC014115 - Homo sapiens WD repeat domain 73, mRNA (cDNA clone IMAGE:4547992), partial cds.
AK225068 - Homo sapiens mRNA for hypothetical protein FLJ14888 variant, clone: CAE01185.
AK027794 - Homo sapiens cDNA FLJ14888 fis, clone PLACE1003762.
AK225199 - Homo sapiens mRNA for hypothetical protein FLJ14888 variant, clone: COL04241.
AK055729 - Homo sapiens cDNA FLJ31167 fis, clone KIDNE1000145, highly similar to Homo sapiens WD repeat domain 73 (WDR73), mRNA.
BC050648 - Homo sapiens WD repeat domain 73, mRNA (cDNA clone IMAGE:5172358), partial cds.
AF161382 - Homo sapiens HSPC264 mRNA, partial cds.
AK055578 - Homo sapiens cDNA FLJ31016 fis, clone HLUNG2000314.
BC063392 - Homo sapiens WD repeat domain 73, mRNA (cDNA clone MGC:70660 IMAGE:5168550), complete cds.
AK090406 - Homo sapiens mRNA for FLJ00296 protein.
AK295372 - Homo sapiens cDNA FLJ57727 complete cds, highly similar to Homo sapiens WD repeat domain 73 (WDR73), mRNA.
AL357213 - Homo sapiens EST from clone 711518, full insert.
JD117087 - Sequence 98111 from Patent EP1572962.
JD291502 - Sequence 272526 from Patent EP1572962.
JD092556 - Sequence 73580 from Patent EP1572962.
JD544612 - Sequence 525636 from Patent EP1572962.
JD101730 - Sequence 82754 from Patent EP1572962.
JD249822 - Sequence 230846 from Patent EP1572962.
JD148291 - Sequence 129315 from Patent EP1572962.
JD463804 - Sequence 444828 from Patent EP1572962.
JD350308 - Sequence 331332 from Patent EP1572962.
JD040156 - Sequence 21180 from Patent EP1572962.
AK027200 - Homo sapiens cDNA: FLJ23547 fis, clone LNG08437, highly similar to AF161382 Homo sapiens HSPC264 mRNA.
DQ598628 - Homo sapiens piRNA piR-36694, complete sequence.
JD320056 - Sequence 301080 from Patent EP1572962.
JD112622 - Sequence 93646 from Patent EP1572962.
DQ581890 - Homo sapiens piRNA piR-50002, complete sequence.
DQ594483 - Homo sapiens piRNA piR-60595, complete sequence.
DQ581779 - Homo sapiens piRNA piR-49891, complete sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: HSPC264, NM_032856, NP_116245, Q6P4I2, Q96JZ1, Q9P0B7, WDR73_HUMAN
UCSC ID: uc002bkw.2
RefSeq Accession: NM_032856
Protein: Q6P4I2 (aka WDR73_HUMAN)
CCDS: CCDS45339.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene WDR73:
ataxias (Hereditary Ataxia Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032856.2
exon count: 8CDS single in 3' UTR: no RNA size: 1855
ORF size: 1137CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2429.00frame shift in genome: no % Coverage: 99.30
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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