Cfap53 cilia and flagella associated protein 53 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cfap53provided by MGI
Official Full Name: cilia and flagella associated protein 53provided by MGI
Primary source: MGI:MGI:1921703
See related: Ensembl:ENSMUSG00000035394 AllianceGenome:MGI:1921703
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: Ccdc11; 4933415I03Rik
Summary: Involved in manchette assembly and sperm flagellum assembly. Acts upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and protein localization to motile cilium. Located in cytoskeleton and motile cilium. Is active in axonemal A tubule inner sheath and sperm flagellum. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human CFAP53 (cilia and flagella associated protein 53). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 7.8) and genital fat pad adult (RPKM 0.6) See more
Orthologs: human all
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Genomic context

Location:: 18 E2; 18 50.7 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (74416171..74493055)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (74283100..74359984)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

CFAP53 regulates mammalian cilia-type motility patterns through differential localization and recruitment of axonemal dynein components.
Title: CFAP53 regulates mammalian cilia-type motility patterns through differential localization and recruitment of axonemal dynein components.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation

General gene information

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Markers

AF072240 (e-PCR)
- UniSTS:163604

AA763521 (e-PCR)
- UniSTS:186134

NoName (e-PCR)
- UniSTS:490847

NoName (e-PCR)
- UniSTS:493982

Fabp5 (e-PCR), detects polymorphism
- UniSTS:499179

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 cerebrospinal fluid circulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cilium movement	ISS Inferred from Sequence or Structural Similarity more info
involved_in determination of left/right symmetry	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of left/right symmetry	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cilium movement involved in determination of left/right asymmetry	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in flagellated sperm motility	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in manchette assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to motile cilium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm flagellum assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in 9+0 motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in 9+2 motile cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in axonemal A 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
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	ISO Inferred from Sequence Orthology more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
located_in centriolar satellite	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary transition zone	ISO Inferred from Sequence Orthology more info
located_in ciliary transition zone	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in manchette	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	IMP Inferred from Mutant Phenotype more info	PubMed
located_in spindle pole	ISO Inferred from Sequence Orthology more info
located_in spindle pole	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cilia- and flagella-associated protein 53

Names: coiled-coil domain containing 11; coiled-coil domain-containing protein 11

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_028948.2 → NP_083224.2 cilia- and flagella-associated protein 53

See identical proteins and their annotated locations for NP_083224.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter, protein-coding transcript.

Source sequence(s)

BC099500, CN835862

Consensus CDS

CCDS37857.2

UniProtKB/Swiss-Prot

Q4KL15, Q9D439

Related

ENSMUSP00000110545.4, ENSMUST00000114895.4

Conserved Domains (1) summary

pfam13868
Location:161 → 490

TPH; Trichohyalin-plectin-homology domain

RNA

NR_029424.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an alternate exon in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK016821, BC099500, CN835862

Related

ENSMUST00000176435.8