Human Gene CFAP251 (uc009zxk.3)
  Description: Homo sapiens WD repeat domain 66 (CFAP251), transcript variant 1, mRNA.
RefSeq Summary (NM_144668): This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011].
Transcript (Including UTRs)
   Position: hg19 chr12:122,356,463-122,441,832 Size: 85,370 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr12:122,359,212-122,441,670 Size: 82,459 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:122,356,463-122,441,832)mRNA (may differ from genome)Protein (1149 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHPRDLynxMGIneXtProtOMIM
PubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WDR66_HUMAN
DESCRIPTION: RecName: Full=WD repeat-containing protein 66;
SIMILARITY: Contains 9 WD repeats.

-  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


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.51 RPKM in Testis
Total median expression: 69.26 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 -60.94159-0.383 Picture PostScript Text
3' UTR -35.90162-0.222 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
IPR011992 - EF-hand-like_dom
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat

SCOP Domains:
47473 - EF-hand
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q8TBY9
FrontTopSide
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
  Biological Process:
GO:0003341 cilium movement

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005930 axoneme
GO:0031514 motile cilium
GO:0042995 cell projection
GO:0001536 radial spoke stalk


-  Descriptions from all associated GenBank mRNAs
  BC028421 - Homo sapiens WD repeat domain 66, mRNA (cDNA clone MGC:33630 IMAGE:4826893), complete cds.
KJ904998 - Synthetic construct Homo sapiens clone ccsbBroadEn_14392 WDR66 gene, encodes complete protein.
AL833930 - Homo sapiens mRNA; cDNA DKFZp434G185 (from clone DKFZp434G185).
JD208289 - Sequence 189313 from Patent EP1572962.
BC036233 - Homo sapiens WD repeat domain 66, mRNA (cDNA clone MGC:39771 IMAGE:5295406), complete cds.
JD340214 - Sequence 321238 from Patent EP1572962.
CU688500 - Synthetic construct Homo sapiens gateway clone IMAGE:100020544 5' read WDR66 mRNA.
AK097102 - Homo sapiens cDNA FLJ39783 fis, clone SPLEN2002223.
JD327733 - Sequence 308757 from Patent EP1572962.
JD565805 - Sequence 546829 from Patent EP1572962.
JD294790 - Sequence 275814 from Patent EP1572962.
JD451341 - Sequence 432365 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C9J1W2, NM_144668, NP_653269, Q8IYA3, Q8N898, Q8NDE7, Q8TBY9, WDR66, WDR66_HUMAN
UCSC ID: uc009zxk.3
RefSeq Accession: NM_144668
Protein: Q8TBY9 (aka WDR66_HUMAN)
CCDS: CCDS41853.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_144668.5
exon count: 22CDS single in 3' UTR: no RNA size: 3785
ORF size: 3450CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6898.00frame shift in genome: no % Coverage: 99.63
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.