POT1

Name

protection of telomeres 1

Type

protein-coding

Position

124,822,386–124,929,959 (−)

Aliases

CMM10, CRMCC3, GLM9, HPOT1, PFBMFT8, TPDS3

Ensembl

ENSG00000128513

RefSeq RNA

NM_001042594.2, NM_015450.3, NR_003102.2, NR_003103.2, NR_003104.2

RefSeq protein

NP_001036059.1, NP_056265.2

This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008].