Cfap58 cilia and flagella associated protein 58 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cfap58provided by MGI
Official Full Name: cilia and flagella associated protein 58provided by MGI
Primary source: MGI:MGI:2685815
See related: Ensembl:ENSMUSG00000046585 AllianceGenome:MGI:2685815
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: Gm969; Ccdc147
Summary: Acts upstream of or within sperm axoneme assembly. Located in sperm midpiece. Used to study oligoasthenoteratozoospermia. Human ortholog(s) of this gene implicated in spermatogenic failure 49. Orthologous to human CFAP58 (cilia and flagella associated protein 58). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis adult (RPKM 16.6) See more
Orthologs: human all
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Genomic context

Location:: 19 D1; 19 40.6 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (47926151..48023818)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (47937712..48035379)

Chromosome 19 - NC_000085.7 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?

The novel testicular enrichment protein Cfap58 is required for Notch-associated ciliogenesis.
Title: The novel testicular enrichment protein Cfap58 is required for Notch-associated ciliogenesis.
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
Title: Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.

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Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

44.MHAa42h8.seq (e-PCR)
- UniSTS:124520

D19Mit4 (e-PCR), detects polymorphism
- UniSTS:128381

D19Dcr57 (e-PCR), detects polymorphism
- UniSTS:532377

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in flagellated sperm motility	ISO Inferred from Sequence Orthology more info
involved_in protein localization to motile cilium	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sperm axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm axoneme assembly	ISO Inferred from Sequence Orthology more info
involved_in sperm flagellum assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm mitochondrial sheath assembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	ISO Inferred from Sequence Orthology more info
located_in sperm midpiece	IDA Inferred from Direct Assay more info	PubMed
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 58

Names: coiled-coil domain containing 147

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.