FAM46A

Family with sequence similarity 46, member A
Identifiers
Symbols	FAM46A ; C6orf37; XTP11
External IDs	OMIM: 611357 MGI: 2670964 HomoloGene: 23032 GeneCards: FAM46A Gene
Gene ontology Molecular function • protein binding • poly(A) RNA binding Biological process • regulation of gene expression • regulation of blood coagulation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	55603	212943
Ensembl	ENSG00000112773	ENSMUSG00000032265
UniProt	Q96IP4	D3Z5S8
RefSeq (mRNA)	NM_017633	NM_001160378
RefSeq (protein)	NP_060103	NP_001153850
Location (UCSC)	Chr 6: 81.49 – 81.75 Mb	Chr 9: 85.32 – 85.33 Mb
PubMed search

Protein FAM46A is a protein that in humans is encoded by the FAM46A gene. Aliases for Fam46A include HBV X-Transactivated Gene 11 Protein, C6orf37, and XTP11.^[1] The gene contains 6 introns, and is 6982 base pairs long.^[2] The transcribed mRNA is 2231 base pairs long and contains 2 exons, 589 and 1128 base pairs, with 4 alternative splice isoforms.^[3]

Exon A

Expression

Expression of Fam46A is found to be exceptionally high in Placental tissue, Pineal Gland, and Pituitary Gland with low to moderate expression within Bone Marrow, Uterus, and Salivary glands.^[4]

Protein

The human FAM46A protein is 461 Amino Acids long.^[5]

Function

The function of Fam46A is currently unknown but there is a Variable Number Tandem Repeat in the first exon of Fam46A that has been explored within various populations and have been attempted to be linked to various retinal diseases as well as colon cancer.^[6][7]

References

1. "Fam46A (Protein Coding)". GeneCards. GeneCards. Retrieved 18 February 2015.
2. "NCBI Gene". NCBI. National Center for Biotechnology Information.
3. "FAM46A Ace View". AceView. NCBI. Retrieved 3 March 2015.
4. "Fam46A Tissue Expression". Protein Atlas. Retrieved 13 March 2015.
5. "FAM46A Ace View". AceView. NCBI. Retrieved 3 March 2015.
6. Barragán, L; Borrego, S; Abd El-Aziz, MM; El-Ashry, MF; Antiñolo, G. "Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.". NCBI.
7. Cui, J; Wang, W; Wang, M; Lin, J; Ma, Y; Ruan, WJ; Xu, J; Lai, MD. "[VNTR polymorphism of C6orf37 in Chinese population].". NCBI.

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Colland F, Jacq X, Trouplin V, et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Cui J, Wang W, Lai MD, et al. (2006). "Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population". Clin. Chim. Acta 368 (1–2): 155–9. doi:10.1016/j.cca.2005.12.043. PMID 16545789.
• Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.