CFAP47

CFAP47
Identifiers
Aliases	CFAP47, CXorf59, CHDC2, CXorf22, CXorf30, cilia and flagella associated protein 47, SPGF52, SPGFX3
External IDs	GeneCards: CFAP47
Gene location (Human)
Chr.	X chromosome (human)
End	36,385,317 bp
RNA expression pattern
	Top expressed in
	bronchial epithelial cell; ; right uterine tube; ; buccal mucosa cell; ; mucosa of paranasal sinus; ; testicle; ; olfactory zone of nasal mucosa; ; epithelium of nasopharynx; ; gonad; ; secondary oocyte; ; ventricular zone;
	n/a
	More reference expression data
	n/a
Orthologs
Databases	NCBI: entry; OMA: entry
	286464
	n/a
	ENSG00000165164
	n/a
	Q6ZTR5
	n/a
	NM_173695; NM_001304548; NM_152632
	n/a
	NP_001291477; NP_689845
	n/a
	Wikidata
View/Edit Human

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

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.^[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

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).^[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

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.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000165164 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Chromosome_X_open-3] 1 2 3 4 "Chromosome X open reading frame 59". NCBI.

[4] "CFAP47 Gene". genecards.org.

[5] 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.

[1]

[2]

[3]

[4]

[5]

This page was redesigned at the edge.

A page that knows where it met you.