Protein-coding gene in the species Homo sapiens
| CFAP53 |
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| Identifiers |
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| Aliases | CFAP53, CCDC11, HTX6, cilia and flagella associated protein 53 |
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| External IDs | OMIM: 614759; MGI: 1921703; HomoloGene: 27056; GeneCards: CFAP53; OMA:CFAP53 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 18 (human)[1] |
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| | Band | 18q21.1 | Start | 50,227,193 bp[1] |
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| End | 50,266,495 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 18 (mouse)[2] |
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| | Band | 18|18 E2 | Start | 74,416,161 bp[2] |
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| End | 74,493,057 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| 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
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| | Top expressed in | - zygote
- seminiferous tubule
- secondary oocyte
- otolith organ
- utricle
- spermatid
- primary oocyte
- spermatocyte
- Epithelium of choroid plexus
- embryo
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| Molecular function | | | 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 18: 50.23 – 50.27 Mb | Chr 18: 74.42 – 74.49 Mb |
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| PubMed search | [3] | [4] |
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| 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
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.
