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

Hypothetical protein structure of CFAP47 produced by I-Tasser.

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. 1 2 3 4 "Chromosome X open reading frame 59". NCBI.
  2. ↑ "CFAP47 Gene". genecards.org/.
  3. ↑ Korenbaum, E.; Rivero, F. (2002). "Calponin homology domains at a glance". Journal of Cell Science. 115 (18): 3543–3545. CiteSeerX 10.1.1.608.8653. doi:10.1242/jcs.00003. PMID 12186940.
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