Biology:CFAP47
CFAP47, or cilia and flagella associated protein 47, is a human gene encoded on the X chromosome.[1] in humans. CXorf59 is located on chromosome X at locus Xp21.1 of the human genome.
Protein
CXorf59 is most commonly known as Cilia- and flagella- associated protein 47 (CFAP47) in other species.
Gene
CFAP47 is a 3187 amino acid protein that has seven splice variants and contains 64 exons.[1] Genecard listed aliases for CXorf59 as Cilia and Flagella Associated Protein 47 (CFAP47), Calponin Homology Domain-Containing Protein 2 (CHDC2), FLJ3660, CXorf22, and CXorf30[2]
Orthologs and paralogs
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
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).[1] While this gene is associated with cilia and flagella, there is no current functional information available on this protein.[1] CXorf59 is also related to Calponin, a calcium binding protein. In the 324 to 403 base pair region, there is a Calponin homology domain.[3] Calponin homology domains are found in cytoskeletal and signal transduction proteins. They are composed of four alpha helices and are actin-binding.
References
- ↑ 1.0 1.1 1.2 1.3 "Chromosome X open reading frame 59". https://www.ncbi.nlm.nih.gov/protein/AAI01699.1.
- ↑ "CFAP47 Gene". https://www.genecards.org/cgi-bin/carddisp.pl?gene=CFAP47&keywords=cxorf59.
- ↑ Korenbaum, E.; Rivero, F. (2002). "Calponin homology domains at a glance". Journal of Cell Science 115 (18): 3543–3545. doi:10.1242/jcs.00003. PMID 12186940.
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