CFAP53

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

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) Band 18q21.1 Start 50,227,193 bp End 50,266,495 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18|18 E2 Start 74,416,161 bp End 74,493,057 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell sperm right uterine tube caput epididymis cerebellar hemisphere internal globus pallidus gastrocnemius muscle caudate nucleus islet of Langerhans anterior pituitary Top expressed in seminiferous tubule secondary oocyte otolith organ utricle spermatid spermatocyte right lung right lung lobe morula left lung lobe More reference expression data BioGPS 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 Species Human Mouse Entrez 220136 74453 Ensembl ENSG00000172361 ENSMUSG00000035394 UniProt Q96M91 Q9D439 RefSeq (mRNA) NM_145020 NM_028948 RefSeq (protein) NP_659457 NP_083224 Location (UCSC) Chr 18: 50.23 – 50.27 Mb Chr 18: 74.42 – 74.49 Mb PubMed search
Wikidata
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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.

External links

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

Further reading

• Perles Z, Cinnamon Y, Ta-Shma A, Shaag A, Einbinder T, Rein AJ, Elpeleg O (June 2012). "A human laterality disorder associated with recessive CCDC11 mutation". Journal of Medical Genetics. 49 (6): 386–90. doi:10.1136/jmedgenet-2011-100457. PMID 22577226. S2CID 2589154.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.