Human Gene CFAP57 (ENST00000372492.9_10) from GENCODE V47lift37
  Description: cilia and flagella associated protein 57, transcript variant 6 (from RefSeq NM_001378189.1)
Gencode Transcript: ENST00000372492.9_10
Gencode Gene: ENSG00000243710.8_14
Transcript (Including UTRs)
   Position: hg19 chr1:43,638,001-43,720,029 Size: 82,029 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr1:43,638,425-43,719,862 Size: 81,438 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther Names
Model InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:43,638,001-43,720,029)mRNA (may differ from genome)Protein (1250 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMalacards
MGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WDR65_HUMAN
DESCRIPTION: RecName: Full=WD repeat-containing protein 65;
INDUCTION: May be an IRF6-target.
DISEASE: Defects in WDR65 may be the cause of van der Woude syndrome type 2 (VWS2) [MIM:606713]. An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
SIMILARITY: Contains 10 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: CFAP57
Diseases sorted by gene-association score: van der woude syndrome (18), van der woude syndrome 2 (14)

+  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: 14.98 RPKM in Testis
Total median expression: 28.70 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -41.40143-0.290 Picture PostScript Text
3' UTR -46.80167-0.280 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
IPR009053 - Prefoldin
IPR011047 - Quinonprotein_ADH-like
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

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

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50956 - Thermostable phytase (3-phytase)
50960 - TolB, C-terminal domain
63825 - YWTD 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
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q96MR6
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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 Details  
Gene Sorter  Gene Sorter  
  Ensembl   
      
      

-  Descriptions from all associated GenBank mRNAs
  AK056562 - Homo sapiens cDNA FLJ32000 fis, clone NT2RP7009370, weakly similar to PUTATIVE SERINE/THREONINE-PROTEIN KINASE PKWA (EC 2.7.1.-).
BC117280 - Homo sapiens WD repeat domain 65, mRNA (cDNA clone MGC:150889 IMAGE:40125831), complete cds.
BC117306 - Homo sapiens WD repeat domain 65, mRNA (cDNA clone MGC:150915 IMAGE:40125857), complete cds.
BC143804 - Homo sapiens cDNA clone IMAGE:9052318, with apparent retained intron.
HQ258484 - Synthetic construct Homo sapiens clone IMAGE:100072913 WD repeat domain 65 (WDR65) gene, encodes complete protein.
KJ900269 - Synthetic construct Homo sapiens clone ccsbBroadEn_09663 WDR65 gene, encodes complete protein.
JD496947 - Sequence 477971 from Patent EP1572962.
JD262926 - Sequence 243950 from Patent EP1572962.
CR936709 - Homo sapiens mRNA; cDNA DKFZp686L11106 (from clone DKFZp686L11106).
LF206588 - JP 2014500723-A/14091: Polycomb-Associated Non-Coding RNAs.
JD357648 - Sequence 338672 from Patent EP1572962.
JD392270 - Sequence 373294 from Patent EP1572962.
JD152839 - Sequence 133863 from Patent EP1572962.
JD067869 - Sequence 48893 from Patent EP1572962.
MA442165 - JP 2018138019-A/14091: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NKQ3, CFA57_HUMAN, CFAP57 , ENST00000372492.1, ENST00000372492.2, ENST00000372492.3, ENST00000372492.4, ENST00000372492.5, ENST00000372492.6, ENST00000372492.7, ENST00000372492.8, NM_001378189, Q17RI9, Q5TAI0, Q96MR6, uc318jyv.1, uc318jyv.2, WDR65
UCSC ID: ENST00000372492.9_10
RefSeq Accession: NM_001378189.1
Protein: Q96MR6 (aka WDR65_HUMAN)

-  Gene Model Information
  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.