CFAP47
| CFAP47 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CFAP47, CXorf59, CHDC2, CXorf22, CXorf30, cilia and flagella associated protein 47, SPGF52, SPGFX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | GeneCards: CFAP47 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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CFAP47, or cilia and flagella associated protein 47, is a human gene encoded on the X chromosome.[3] in humans. CXorf59 is located on chromosome X at locus Xp21.1 of the human genome.
Protein
[edit]CXorf59 is most commonly known as Cilia- and flagella- associated protein 47 (CFAP47) in other species.
Gene
[edit]CFAP47 is a 3187 amino acid protein that has seven splice variants and contains 64 exons.[3] Genecard listed aliases for CXorf59 as Cilia and Flagella Associated Protein 47 (CFAP47), Calponin Homology Domain-Containing Protein 2 (CHDC2), FLJ3660, CXorf22, and CXorf30[4]
Orthologs and paralogs
[edit]Orthologs have been found in mammalia, aves, reptilia, amphibia, osteichthyes; sarcopterygii and actinopterygii, ascidiacea, gastropoda, cephalopoda, insecta, and demospongiae. There are no paralogs within the human genome.
Expression
[edit]
CXorf59 is a protein coding gene that is confirmed to be expressed in 27 different tissues. The liver, testis, thyroid, brain, and endometrium were higher in reads per kilobase of transcript (RPKM).[3] While this gene is associated with cilia and flagella, there is no current functional information available on this protein.[3] CXorf59 is also related to Calponin, a calcium binding protein. In the 324 to 403 base pair region, there is a Calponin homology domain.[5] Calponin homology domains are found in cytoskeletal and signal transduction proteins. They are composed of four alpha helices and are actin-binding.
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000165164 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 3 4 "Chromosome X open reading frame 59". NCBI.
- ↑ "CFAP47 Gene". genecards.org.
- ↑ Korenbaum E, Rivero F (September 2002). "Calponin homology domains at a glance". Journal of Cell Science. 115 (Pt 18): 3543–3545. doi:10.1242/jcs.00003. PMID 12186940.