Human Gene CFAP44 (uc003eae.2)
  Description: Homo sapiens WD repeat domain 52 (CFAP44), transcript variant 2, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr3:113,081,712-113,160,361 Size: 78,650 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg19 chr3:113,081,977-113,152,511 Size: 70,535 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:113,081,712-113,160,361)mRNA (may differ from genome)Protein (982 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WDR52_HUMAN
DESCRIPTION: RecName: Full=WD repeat-containing protein 52;
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


-  MalaCards Disease Associations
  MalaCards Gene Search: CFAP44
Diseases sorted by gene-association score: spermatogenic failure 20* (950), non-syndromic male infertility due to sperm motility disorder* (175)
* = Manually curated disease association

+  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: 6.31 RPKM in Pituitary
Total median expression: 97.64 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 -19.1067-0.285 Picture PostScript Text
3' UTR -54.34265-0.205 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
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

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

SCOP Domains:
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
50998 - Quinoprotein alcohol dehydrogenase-like
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 Q96MT7
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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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0060285 cilium-dependent cell motility

Cellular Component:
GO:0005929 cilium
GO:0031514 motile cilium
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK056472 - Homo sapiens cDNA FLJ31910 fis, clone NT2RP7004687, weakly similar to VEGETATIBLE INCOMPATIBILITY PROTEIN HET-E-1.
BC101582 - Homo sapiens WD repeat domain 52, mRNA (cDNA clone MGC:126631 IMAGE:8069088), complete cds.
BC113553 - Homo sapiens WD repeat domain 52, mRNA (cDNA clone MGC:142113 IMAGE:8322605), complete cds.
AL133606 - Homo sapiens mRNA; cDNA DKFZp434A2017 (from clone DKFZp434A2017).
JD168657 - Sequence 149681 from Patent EP1572962.
JD359376 - Sequence 340400 from Patent EP1572962.
JD057485 - Sequence 38509 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_018338, NP_060808, Q96MT7, WDR52, WDR52_HUMAN
UCSC ID: uc003eae.2
RefSeq Accession: NM_018338
Protein: Q96MT7 (aka WDR52_HUMAN)
CCDS: CCDS2972.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018338.3
exon count: 21CDS single in 3' UTR: no RNA size: 3281
ORF size: 2949CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5984.00frame shift in genome: no % Coverage: 100.00
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: 280# 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.