cfap53 cilia and flagella associated protein 53 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: cfap53provided by ZNC
Official Full Name: cilia and flagella associated protein 53provided by ZNC
Primary source: ZFIN:ZDB-GENE-060503-508
See related: Ensembl:ENSDARG00000100892 AllianceGenome:ZFIN:ZDB-GENE-060503-508
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: ccdc11; zgc:153145; si:ch211-257i19.2
Summary: Involved in cilium movement. Acts upstream of or within cilium assembly and epithelial cilium movement involved in determination of left/right asymmetry. Located in axoneme and ciliary base. Is expressed in several structures, including Kupffer's vesicle; forerunner cell group; otic placode; pronephros; and spinal cord neural tube. Used to study visceral heterotaxy. Human ortholog(s) of this gene implicated in visceral heterotaxy 6. Orthologous to human CFAP53 (cilia and flagella associated protein 53). [provided by Alliance of Genome Resources, Apr 2025]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 21

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2025_04	current	GRCz12tu (GCF_049306965.1)	21	NC_133196.1 (24010253..24018030, complement)
RS_2024_08	previous assembly	GRCz11 (GCF_000002035.6)	21	NC_007132.7 (22549720..22557469, complement)

Chromosome 21 - NC_133196.1 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

To determine the role of CCDC11 during vertebrate development, we generated mutant alleles in zebrafish.
Title: Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry.
Cfap53 is a conserved regulator of organ laterality in both humans and zebrafish.
Title: A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.
Through functional evaluation of the zebrafish homolog of the gene, study identify a critical role for the CCDC11 protein in regulating the motility of cilia within the left-right asymmetry organizer during embryogenesis.
Title: Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.

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General gene information

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Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium movement	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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 cell projection	IEA Inferred from Electronic Annotation more info
located_in ciliary base	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
located_in cytoskeleton	IEA Inferred from Electronic Annotation 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.