PAX1 Gene: Paired Box 1 – Function, Disease Associations, and Expression
A comprehensive biomedical overview of PAX1, including gene structure, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | PAX1 |
|---|---|
| Full Name | Paired box 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.22 |
| NCBI Gene ID | 5079 ncbi.nlm.nih.gov/gene/5079 |
| Ensembl ID | ENSG00000125813 |
| UniProt ID | P15863 |
| OMIM ID | 167411 |
| HGNC ID | 8615 |
| Aliases | HUP1, PAX-1 |
Description
PAX1 (Paired box 1) is a transcription factor belonging to the paired box (PAX) family, characterized by a conserved paired domain that binds DNA. PAX1 plays a critical role in embryonic development, particularly in the formation of the vertebral column, thymus, and other skeletal structures. It is involved in the regulation of genes essential for segmentation and organogenesis. Mutations in PAX1 are associated with congenital vertebral anomalies and have been implicated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Otofaciocervical syndrome type 2 | Loss-of-function mutations in PAX1 disrupt normal development of the first and second pharyngeal arches, leading to craniofacial and vertebral abnormalities. | ClinVar, OMIM |
| Klippel-Feil syndrome | PAX1 mutations may contribute to vertebral fusion defects, though the mechanism is not fully defined. | ClinVar, OMIM |
| Colorectal cancer | PAX1 promoter hypermethylation leads to reduced expression, potentially contributing to tumor progression. | COSMIC, PubMed (via NCBI) |
| Cervical cancer | PAX1 methylation is used as a biomarker; reduced expression is associated with malignancy. | COSMIC, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | Not available | Low expression (based on GTEx data via Ensembl) |
| Thymus | Not available | High expression (based on GTEx data via Ensembl) |
| Testis | Not available | Moderate expression (based on GTEx data via Ensembl) |
| Lung | Not available | Low expression (based on GTEx data via Ensembl) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | Not available | Low expression; promoter methylation observed |
| HCT116 (colorectal cancer) | Not available | Reduced expression due to methylation |
| MCF7 (breast cancer) | Not available | Low expression; not typically expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.151C>T (p.Arg51Ter) | Nonsense | Rare | Loss of function; associated with otofaciocervical syndrome type 2 |
| c.452G>A (p.Arg151His) | Missense | Rare | Loss of function; affects DNA binding |
| c.619C>T (p.Arg207Ter) | Nonsense | Rare | Loss of function; associated with vertebral anomalies |
Mutation functional classification
Loss of Function (LOF)
Most PAX1 mutations are loss-of-function, leading to haploinsufficiency or dominant-negative effects, causing developmental defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PAX1.
Dominant Negative (DN)
Some missense mutations in the paired domain may act in a dominant-negative manner by interfering with wild-type PAX1 function.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • sequence-specific DNA binding | • regulation of transcription by RNA polymerase II |
| • embryonic skeletal system morphogenesis | • thymus development |
| • vertebral column development |
Pathways
• Notch signaling pathway (involved in somitogenesis)
• Wnt signaling pathway (cross-talk in development)
• Retinoic acid signaling (involved in axial patterning)
Protein Summary
PAX1 is a 440-amino acid protein containing a paired domain that binds DNA in a sequence-specific manner. It functions as a transcription factor, regulating genes involved in embryonic development, particularly in the sclerotome and pharyngeal arches. PAX1 interacts with other proteins such as PAX9 and may form heterodimers. Its expression is tightly regulated during development, and aberrant expression or mutation leads to congenital disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAX1 Knockout HEK293 Cell Line | EDJ-KQ3715 | Human | 5075 | Details Get a Quote |
| PAX1 Knockout HeLa Cell Line | EDJ-KQ54080 | Human | 5075 | Details Get a Quote |
| PAX1 Knockout A-549 Cell Line | EDJ-KQ62568 | Human | 5075 | Details Get a Quote |
| PAX1 Knockout HCT 116 Cell Line | EDJ-KQ71039 | Human | 5075 | Details Get a Quote |
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