U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cfap57 cilia and flagella associated protein 57 [ Mus musculus (house mouse) ]

Gene ID: 68625, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Cfap57provided by MGI
Official Full Name
cilia and flagella associated protein 57provided by MGI
Primary source
MGI:MGI:2686209
See related
Ensembl:ENSMUSG00000028730 AllianceGenome:MGI:2686209
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Wdr65; Gm1363; 1110020C03Rik; C130004B06Rik
Summary
Is expressed in brain. Orthologous to human CFAP57 (cilia and flagella associated protein 57). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis adult (RPKM 24.8) and lung adult (RPKM 0.9) See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
4 D2.1; 4 54.84 cM
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (118411747..118477982, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (118554550..118620819, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 125 Neighboring gene predicted gene, 40237 Neighboring gene predicted gene, 52677 Neighboring gene STARR-positive B cell enhancer ABC_E4653 Neighboring gene EBNA1 binding protein 2 Neighboring gene DNA segment, Chr 4, ERATO Doi 617, expressed Neighboring gene predicted gene 12853

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice. Ma A, et al. JCI Insight, 2023 Feb 8. PMID 36752199, Free PMC Article
  2. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. Rorick NK, et al. Am J Med Genet A, 2011 Jun. PMID 21574244, Free PMC Article
  3. Szt2, a novel gene for seizure threshold in mice. Frankel WN, et al. Genes Brain Behav, 2009 Jul. PMID 19624305, Free PMC Article
  4. Cell-free cotranslation and selection using in vitro virus for high-throughput analysis of protein-protein interactions and complexes. Miyamoto-Sato E, et al. Genome Res, 2005 May. PMID 15867431, Free PMC Article
  5. Tissue expression patterns identify mouse cilia genes. McClintock TS, et al. Physiol Genomics, 2008 Jan 17. PMID 17971504

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within axonemal dynein complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cilium organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within single fertilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within sperm flagellum assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in sperm flagellum IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
cilia- and flagella-associated protein 57
Names
WD repeat domain 65
WD repeat-containing protein 65

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_026789.5 → NP_081065.2  cilia- and flagella-associated protein 57

    See identical proteins and their annotated locations for NP_081065.2

    Status: VALIDATED

    Source sequence(s)
    AL669952, BX321881, BX842610
    Consensus CDS
    CCDS51286.1
    UniProtKB/Swiss-Prot
    A2ACY9, Q9D180
    Related
    ENSMUSP00000071863.5, ENSMUST00000071972.11
    Conserved Domains (9) summary
    TIGR01843
    Location:1004 → 1249
    type_I_hlyD; type I secretion membrane fusion protein, HlyD family
    COG1340
    Location:790 → 1080
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    COG2319
    Location:71 → 576
    WD40; WD40 repeat [General function prediction only]
    pfam16046
    Location:880 → 1027
    FAM76; FAM76 protein
    sd00039
    Location:391 → 430
    7WD40; WD40 repeat [structural motif]
    cd16269
    Location:829 → 840
    GBP_C; coiled coil [structural motif]
    cl02434
    Location:202 → 329
    CNH; CNH domain
    cl02567
    Location:387 → 665
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl20817
    Location:728 → 854
    GBP_C; Guanylate-binding protein, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    118411747..118477982 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006503371.4 → XP_006503434.1  cilia- and flagella-associated protein 57 isoform X1

    Conserved Domains (6) summary
    TIGR01843
    Location:933 → 1178
    type_I_hlyD; type I secretion membrane fusion protein, HlyD family
    COG1196
    Location:712 → 1047
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG2319
    Location:29 → 254
    WD40; WD40 repeat [General function prediction only]
    PRK04863
    Location:621 → 789
    mukB; chromosome partition protein MukB
    sd00039
    Location:340 → 386
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:340 → 606
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  2. XM_036164394.1 → XP_036020287.1  cilia- and flagella-associated protein 57 isoform X3

    Conserved Domains (2) summary
    COG1196
    Location:141 → 409
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK03918
    Location:258 → 579
    PRK03918; DNA double-strand break repair ATPase Rad50

  3. XM_036164393.1 → XP_036020286.1  cilia- and flagella-associated protein 57 isoform X2

    Conserved Domains (2) summary
    COG1196
    Location:170 → 505
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    NF033930
    Location:63 → 243
    pneumo_PspA; pneumococcal surface protein A

RNA

  1. XR_003955005.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9D180.3 GenPept UniProtKB/Swiss-Prot:Q9D180

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases
Research Materials
Tools
Miscellaneous