HMBOX1

HMBOX1 (Homeobox Containing 1) is a Protein Coding gene.

Full Name

Homeobox Containing 1

Function

Binds directly to 5'-TTAGGG-3' repeats in telomeric DNA (PubMed:23813958, PubMed:23685356).

Associates with the telomerase complex at sites of active telomere processing and positively regulates telomere elongation (PubMed:23685356).

Important for TERT binding to chromatin, indicating a role in recruitment of the telomerase complex to telomeres (By similarity).

Also plays a role in the alternative lengthening of telomeres (ALT) pathway in telomerase-negative cells where it promotes formation and/or maintenance of ALT-associated promyelocytic leukemia bodies (APBs) (PubMed:23813958).

Enhances formation of telomere C-circles in ALT cells, suggesting a possible role in telomere recombination (PubMed:23813958).

Might also be involved in the DNA damage response at telomeres (PubMed:23813958).

Biological Process

Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: NTNU_SB
Positive regulation of chromatin binding Source: BHF-UCL
Positive regulation of telomerase activity Source: BHF-UCL
Positive regulation of telomere maintenance via telomerase Source: BHF-UCL
Positive regulation of transcription, DNA-templated Source: InterPro
Regulation of telomerase activity Source: BHF-UCL

Cellular Location

Cytoplasm; Nucleus; Cajal body; PML body; Telomere. Predominantly detected in cytoplasm (PubMed:16825764, PubMed:19728927). Localizes in a dynamic manner to actively processed telomeres (PubMed:23685356). Localizes to the periphery of Cajal bodies (PubMed:23685356). Associates with PML nuclear bodies in telomerase-negative cells (PubMed:23813958).
Isoform 5: Cytoplasm; Nucleus