CFAP53

CFAP53
Identifiers
Aliases	CFAP53, CCDC11, HTX6, cilia and flagella associated protein 53
External IDs	OMIM: 614759; MGI: 1921703; HomoloGene: 27056; GeneCards: CFAP53; OMA:CFAP53 - orthologs
Gene location (Human)
Chr.	Chromosome 18 (human)
End	50,266,495 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	74,493,057 bp
RNA expression pattern
	Top expressed in
	bronchial epithelial cell; ; left testis; ; sperm; ; right uterine tube; ; right testis; ; mucosa of paranasal sinus; ; buccal mucosa cell; ; olfactory zone of nasal mucosa; ; epithelium of nasopharynx; ; testicle;
	Top expressed in
	zygote; ; seminiferous tubule; ; secondary oocyte; ; otolith organ; ; utricle; ; spermatid; ; primary oocyte; ; spermatocyte; ; Epithelium of choroid plexus; ; embryo;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	cell projection; cilium; cellular component; extracellular region;
Biological process	cilium movement; determination of left/right symmetry; cilium assembly; epithelial cilium movement involved in determination of left/right asymmetry; multicellular organism development;
	Sources:Amigo / QuickGO
Orthologs
	220136
	74453
	ENSG00000172361
	ENSMUSG00000035394
	Q96M91
	Q9D439
	NM_145020
	NM_028948
	NP_659457
	NP_083224
	Wikidata
View/Edit Human	View/Edit Mouse

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Cilia and flagella associated protein 53 is a protein that in humans is encoded by the CFAP53 gene.^[5]

Function

This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000172361 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035394 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Cilia and flagella associated protein 53".

External links

Human CFAP53 genome location and CFAP53 gene details page in the UCSC Genome Browser.

Function

References

External links

Further reading