FAM46A

TENT5A
Identifiers
Aliases	TENT5A, C6orf37, XTP11, family with sequence similarity 46 member A, terminal nucleotidyltransferase 5A, FAM46A, OI18
External IDs	OMIM: 611357; MGI: 2670964; HomoloGene: 23032; GeneCards: TENT5A; OMA:TENT5A - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	81,752,774 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	85,209,401 bp
RNA expression pattern
	Top expressed in
	parotid gland; ; tibia; ; pericardium; ; trachea; ; nipple; ; trabecular bone; ; right ventricle; ; skin of hip; ; vena cava; ; cartilage tissue;
	Top expressed in
	molar; ; body of femur; ; otolith organ; ; calvaria; ; utricle; ; conjunctival fornix; ; left colon; ; umbilical cord; ; ciliary body; ; salivary gland;
	More reference expression data
	More reference expression data
Orthologs
	55603
	212943
	ENSG00000112773
	ENSMUSG00000032265
	Q96IP4
	D3Z5S8
	NM_017633
	NM_001160378; NM_001160379
	NP_060103
	NP_001153850; NP_001153851
	Wikidata
View/Edit Human	View/Edit Mouse

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.^[5] The gene contains 6 introns, and is 6982 base pairs long.^[6] The transcribed mRNA is 2231 base pairs long and contains 2 exons, 589 and 1128 base pairs, with 4 alternative splice isoforms.^[7]

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.^[8]

Protein

The human FAM46A protein is 461 Amino Acids long.^[9]

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.^[10]^[11]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000112773 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032265 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Fam46A (Protein Coding)". GeneCards. Retrieved 18 February 2015.
^ "NCBI Gene". NCBI. National Center for Biotechnology Information.
^ "FAM46A Ace View". AceView. NCBI. Retrieved 3 March 2015.
^ "Fam46A Tissue Expression". Protein Atlas. Retrieved 13 March 2015.
^ "FAM46A Ace View". AceView. NCBI. Retrieved 3 March 2015.
^ Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G (January 2008). "Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs". Annals of Human Genetics. 72 (Pt 1): 26–34. doi:10.1111/j.1469-1809.2007.00393.x. PMID 17803723. S2CID 2087472.
^ Cui J, Wang W, Wang M, Lin J, Ma Y, Ruan WJ, Xu J, Lai MD (July 2006). "[VNTR polymorphism of C6orf37 in Chinese population]". Zhejiang da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences. 35 (4): 354–9. doi:10.3785/j.issn.1008-9292.2006.04.002. PMID 16924696.

Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (July 2004). "Functional proteomics mapping of a human signaling pathway". Genome Research. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
Cui J, Wang W, Lai MD, Xu EP, Lv BJ, Lin J, Ruan WJ, Ma Y, Yao C (June 2006). "Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population". Clinica Chimica Acta; International Journal of Clinical Chemistry. 368 (1–2): 155–9. doi:10.1016/j.cca.2005.12.043. PMID 16545789.
Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 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. S2CID 13709685.

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000112773 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000032265 – Ensembl, May 2017

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

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

[5] "Fam46A (Protein Coding)". GeneCards. Retrieved 18 February 2015.

[6] "NCBI Gene". NCBI. National Center for Biotechnology Information.

[7] "FAM46A Ace View". AceView. NCBI. Retrieved 3 March 2015.

[8] "Fam46A Tissue Expression". Protein Atlas. Retrieved 13 March 2015.

[9] "FAM46A Ace View". AceView. NCBI. Retrieved 3 March 2015.

[10] Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G (January 2008). "Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs". Annals of Human Genetics. 72 (Pt 1): 26–34. doi:10.1111/j.1469-1809.2007.00393.x. PMID 17803723. S2CID 2087472.

[11] Cui J, Wang W, Wang M, Lin J, Ma Y, Ruan WJ, Xu J, Lai MD (July 2006). "[VNTR polymorphism of C6orf37 in Chinese population]". Zhejiang da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences. 35 (4): 354–9. doi:10.3785/j.issn.1008-9292.2006.04.002. PMID 16924696.

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FAM46A

Expression

Protein

Function

References

Further reading