HOXB1: Homeobox B1 Gene
Key regulator of hindbrain development and rhombomere segmentation
Gene Information Card
| Symbol | HOXB1 |
|---|---|
| Full Name | Homeobox B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 3211 ncbi.nlm.nih.gov/gene/3211 |
| Ensembl ID | ENSG00000120068 |
| UniProt ID | P14653 |
| OMIM ID | 142968 |
| HGNC ID | 4980 |
| Aliases | HOX-2I, HOX2I |
Description
HOXB1 (Homeobox B1) is a protein-coding gene that encodes a transcription factor belonging to the homeobox family of developmental regulators. It plays a critical role in early embryonic development, particularly in the specification and segmentation of the hindbrain rhombomeres. HOXB1 is part of the HOX gene cluster B on chromosome 17 and is essential for proper motor neuron differentiation and facial nerve development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Facial paresis, hereditary congenital, 3 (HCFP3) | Loss-of-function mutations in HOXB1 disrupt hindbrain segmentation and motor neuron development, leading to congenital facial weakness. | OMIM #614744; ClinVar |
| Autosomal recessive deafness | HOXB1 mutations may contribute to auditory system defects due to altered rhombomere patterning. | OMIM #614744; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 0.0 | No detectable expression in this leukemia cell line |
| HeLa | 0.0 | No detectable expression |
| HEK 293 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.422G>A (p.Arg141Gln) | Missense | Rare | Loss of DNA-binding ability; associated with HCFP3 |
| c.1A>G (p.Met1Val) | Missense | Rare | Initiation codon mutation; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that impair DNA binding or protein stability lead to loss of function, associated with congenital facial palsy.
Gain of Function (GOF)
No gain-of-function mutations reported for HOXB1.
Dominant Negative (DN)
No dominant-negative mutations reported for HOXB1.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • Sequence-specific DNA binding (GO:0043565) |
| • Nucleus (GO:0005634) | • Anterior/posterior pattern specification (GO:0009952) |
| • Rhombomere development (GO:0021661) |
Pathways
• Hox gene regulation during development
• Hindbrain segmentation
Protein Summary
The HOXB1 protein is a 330-amino-acid homeodomain-containing transcription factor that binds to specific DNA sequences to regulate gene expression. It is expressed transiently during embryogenesis in the developing hindbrain, where it controls rhombomere identity and motor neuron specification. The protein contains a conserved homeobox domain responsible for DNA binding and a transcriptional activation domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXB13 Knockout HEK293 Cell Line | EDJ-KQ3923 | Human | 10481 | Details Get a Quote |
| HOXB1 Knockout HEK293 Cell Line | EDJ-KQ4114 | Human | 3211 | Details Get a Quote |
| HOXB13 Knockout A-549 Cell Line | EDJ-KQ26157 | Human | 10481 | Details Get a Quote |
| HOXB13 Knockout HCT 116 Cell Line | EDJ-KQ26158 | Human | 10481 | Details Get a Quote |
| HOXB13 Knockout HeLa Cell Line | EDJ-KQ26159 | Human | 10481 | Details Get a Quote |
| HOXB1 Knockout HeLa Cell Line | EDJ-KQ53551 | Human | 3211 | Details Get a Quote |
| HOXB1 Knockout A-549 Cell Line | EDJ-KQ62018 | Human | 3211 | Details Get a Quote |
| HOXB1 Knockout HCT 116 Cell Line | EDJ-KQ70496 | Human | 3211 | Details Get a Quote |
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