Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
HMBOX1 - 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).
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 79618 | ENSG00000147421 | HMBOX1 | Q6NT76 |
Causal Flows are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation may causally activate or deactivate a downstream regulator which then might up- down-regulates a regulonthat contains genes with similar expression profiles and binding sites.
Causal Mechanistic Flows with ENSG00000147421 as Regulator
| ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
|---|---|---|---|---|---|---|---|---|
| CMF-01317 | OR2H1 | down-regulates | HMBOX1 | activates | R-1551 | 7 | 3 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-02867 | SRRM2 | up-regulates | HMBOX1 | activates | R-1551 | 7 | 3 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-08680 | MYH14 | up-regulates | HMBOX1 | activates | R-1551 | 7 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-13769 | ADAMTS8 | up-regulates | HMBOX1 | represses | R-1550 | 7 | 1 | Drugs (8) Regulator Drugs (0)Regulon Drugs (8)ATN-161, NIVOCASAN, NATALIZUMAB, FIRATEGRAST, EMRICASAN, VOLOCIXIMAB, PEGINTERFERON LAMBDA-1A, ABITUZUMAB |
| CMF-15723 | FN1 | down-regulates | HMBOX1 | represses | R-1550 | 7 | 1 | Drugs (8) Regulator Drugs (0)Regulon Drugs (8)ATN-161, NIVOCASAN, NATALIZUMAB, FIRATEGRAST, EMRICASAN, VOLOCIXIMAB, PEGINTERFERON LAMBDA-1A, ABITUZUMAB |
| CMF-22406 | IDH1 | up-regulates | HMBOX1 | represses | R-1550 | 7 | 6 | Drugs (8) Regulator Drugs (0)Regulon Drugs (8)ATN-161, NIVOCASAN, NATALIZUMAB, FIRATEGRAST, EMRICASAN, VOLOCIXIMAB, PEGINTERFERON LAMBDA-1A, ABITUZUMAB |
| CMF-25178 | ABCA9 | down-regulates | HMBOX1 | activates | R-1551 | 7 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |