Cfap69 cilia and flagella associated protein 69 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cfap69provided by MGI
Official Full Name: cilia and flagella associated protein 69provided by MGI
Primary source: MGI:MGI:2443778
See related: Ensembl:ENSMUSG00000040473 AllianceGenome:MGI:2443778
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 4921525K03; A330021E22Rik
Summary: Involved in several processes, including positive regulation of fertilization; positive regulation of flagellated sperm motility; and response to odorant. Acts upstream of or within sperm axoneme assembly. Located in non-motile cilium. Is expressed in several structures, including brain; genitourinary system; gut gland; nasal cavity epithelium; and spinal cord ventricular layer. Used to study spermatogenic failure 24. Human ortholog(s) of this gene implicated in spermatogenic failure 24. Orthologous to human CFAP69 (cilia and flagella associated protein 69). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 13.1), frontal lobe adult (RPKM 3.0) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 A1; 5 3.07 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (5629284..5714232, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (5579278..5664232, complement)

Chromosome 5 - NC_000071.7 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?

Homozygous loss-of-function mutations of CFAP69 are associated with abnormalities of the sperm flagella and severe asthenoteratospermia.
Title: Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella.
CFAP69 is necessary for flagellum assembly/stability and that in both humans and mice
Title: Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.
Therefore, the role of CFAP69 in the olfactory system seems to be to allow the olfactory transduction machinery to work at a precisely regulated range of response kinetics for robust olfactory behavior.SIGNIFICANCE STATEMENT Sensory receptor cells are generally thought to evolve to respond to sensory cues as fast as they can.
Title: Cilia- and Flagella-Associated Protein 69 Regulates Olfactory Transduction Kinetics in Mice.
A330021E22Rik 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.

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Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI427898 (e-PCR)
- UniSTS:159342

A330021E22Rik (e-PCR), detects polymorphism
- UniSTS:528301

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
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within flagellated sperm motility	ISO Inferred from Sequence Orthology more info
involved_in olfactory behavior	IBA Inferred from Biological aspect of Ancestor more info
involved_in olfactory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of fertilization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of flagellated sperm motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of flagellated sperm motility	IDA Inferred from Direct Assay more info	PubMed
involved_in response to odorant	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to odorant	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sensory perception of smell	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sperm axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sperm axoneme assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axonemal central pair projection	ISO Inferred from Sequence Orthology more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
is_active_in non-motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in non-motile cilium	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in sperm midpiece	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm midpiece	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cilia- and flagella-associated protein 69

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.