POT1 protection of telomeres 1 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 25913)
Source: NCBI Gene (ID 25913)
Symbol: POT1
Full name: protection of telomeres 1
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: CMM10; GLM9; HPOT1
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 8.1), thyroid (RPKM 7.2) and 25 other tissues
Orthologs: mouse
Gene size: 107440bp
Exon count: 21