FAM46A

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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]

AliasesTENT5A, C6orf37, XTP11, family with sequence similarity 46 member A, terminal nucleotidyltransferase 5A, FAM46A, OI18
End81,752,774 bp[1]
Quick facts TENT5A, Identifiers ...
TENT5A
Identifiers
AliasesTENT5A, C6orf37, XTP11, family with sequence similarity 46 member A, terminal nucleotidyltransferase 5A, FAM46A, OI18
External IDsOMIM: 611357; MGI: 2670964; HomoloGene: 23032; GeneCards: TENT5A; OMA:TENT5A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
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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

Further reading

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