FAM46A

TENT5A
Identifiers
AliasesTENT5A, C6orf37, XTP11, family with sequence similarity 46 member A, terminal nucleotidyltransferase 5A, FAM46A, OI18
External IDsOMIM: 611357; MGI: 2670964; GeneCards: TENT5A
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
2.7.7.19↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

55603

212943

Ensembl

ENSG00000112773

ENSMUSG00000032265

UniProt

Q96IP4

D3Z5S8

RefSeq (mRNA)

NM_017633

NM_001160378
NM_001160379

RefSeq (protein)

NP_060103

NP_001153850
NP_001153851

Location (UCSC)Chr 6: 81.49 – 81.75 MbChr 9: 85.2 – 85.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112773 – Ensembl, May 2017
  2. ^ a b c 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.

Further reading

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