HMBOX1: Homeobox Containing 1
Transcriptional Regulator with Roles in Telomere Maintenance and Cellular Senescence
Gene Information Card
| Symbol | HMBOX1 |
|---|---|
| Full Name | Homeobox Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 79618 ncbi.nlm.nih.gov/gene/79618 |
| Ensembl ID | ENSG00000147400 |
| UniProt ID | Q6NT76 |
| OMIM ID | 610769 |
| HGNC ID | 26119 |
| Aliases | Hmbox1, PBX3, TCF-4, homeobox 1 |
Description
HMBOX1 (Homeobox Containing 1) encodes a transcription factor that belongs to the homeobox family. It is involved in the regulation of telomere maintenance, cellular senescence, and gene expression. The protein contains a homeobox DNA-binding domain and localizes to the nucleus. HMBOX1 is widely expressed in various tissues and plays a role in maintaining genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | HMBOX1 expression is altered in various cancers; may influence telomere length and senescence pathways. | COSMIC; literature review |
| Cellular senescence | HMBOX1 contributes to telomere maintenance; dysregulation may accelerate senescence. | UniProt; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.0 | Cervical cancer cell line |
| HEK293 | 6.5 | Embryonic kidney cell line |
| K562 | 7.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown |
| c.100C>T | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations predicted to cause loss of function.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • transcription factor activity |
| • nucleus | • regulation of transcription |
| • telomere maintenance |
Pathways
• Telomere maintenance
• Cellular senescence
Protein Summary
HMBOX1 is a 361-amino acid nuclear protein containing a homeobox domain. It binds DNA and regulates transcription, particularly in telomere maintenance and cellular aging. The protein is expressed in multiple tissues and is implicated in cancer and senescence.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HMBOX1 Knockout HEK293 Cell Line | EDJ-KQ13760 | Human | 79618 | Details Get a Quote |
| HMBOX1 Knockout A-549 Cell Line | EDJ-KQ43543 | Human | 79618 | Details Get a Quote |
| HMBOX1 Knockout HCT 116 Cell Line | EDJ-KQ43544 | Human | 79618 | Details Get a Quote |
| HMBOX1 Knockout HeLa Cell Line | EDJ-KQ43545 | Human | 79618 | Details Get a Quote |
