Cfap52 cilia and flagella associated protein 52 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cfap52provided by MGI
Official Full Name: cilia and flagella associated protein 52provided by MGI
Primary source: MGI:MGI:1919110
See related: Ensembl:ENSMUSG00000020904 AllianceGenome:MGI:1919110
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: Wdr16; WDRPUH; 1700019F09Rik; 4933417B11Rik
Summary: Involved in flagellated sperm motility. Acts upstream of or within several processes, including microtubule sliding; single fertilization; and spermatid development. Is active in axonemal B tubule inner sheath and sperm midpiece. Is expressed in several structures, including brain ventricle and choroid plexus and epithelium. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human CFAP52 (cilia and flagella associated protein 52). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis adult (RPKM 26.6), lung adult (RPKM 1.9) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B3; 11 41.16 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (67815632..67856494, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (67924806..67965669, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Wdr16 is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
Title: Tissue expression patterns identify mouse cilia genes.
Human WDRPUH is a novel WD-repeat-containing protein involved in cell proliferation.
Title: WDRPUH, a novel WD-repeat-containing protein, is highly expressed in human hepatocellular carcinoma and involved in cell proliferation.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in establishment of left/right asymmetry	IEA Inferred from Electronic Annotation more info
involved_in flagellated sperm motility	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microtubule sliding	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 motility	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in axonemal B tubule inner sheath	IDA Inferred from Direct Assay more info	PubMed
located_in axonemal microtubule	ISO Inferred from Sequence Orthology more info
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
is_active_in sperm flagellum	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in sperm midpiece	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: cilia- and flagella-associated protein 52

Names: WD repeat domain 16; WD repeat-containing protein 16; WD40-repear protein upregulated in HCC

NCBI Reference Sequences (RefSeq)

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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)

NM_027963.2 → NP_082239.2 cilia- and flagella-associated protein 52

See identical proteins and their annotated locations for NP_082239.2

Status: VALIDATED

Source sequence(s)

AK006118, AU015948, BC118541

Consensus CDS

CCDS24862.1

UniProtKB/Swiss-Prot

Q5F200, Q5F201, Q9D432, Q9DA68

UniProtKB/TrEMBL

Q147Z1

Related

ENSMUSP00000021287.6, ENSMUST00000021287.12

Conserved Domains (3) summary

COG2319
Location:277 → 617

WD40; WD40 repeat [General function prediction only]

sd00039
Location:380 → 414

7WD40; WD40 repeat [structural motif]

cl02567
Location:346 → 615

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 ...

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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

67815632..67856494 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006534265.5 → XP_006534328.1 cilia- and flagella-associated protein 52 isoform X1

Conserved Domains (3) summary

COG2319
Location:32 → 356

WD40; WD40 repeat [General function prediction only]

sd00039
Location:337 → 371

7WD40; WD40 repeat [structural motif]

cl29593
Location:303 → 572

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 ...