Gene

PAX1

Species
Homo sapiens
Symbol
PAX1
Name
paired box 1
Synonyms
  • HUP48
  • OFC2
Biotype
protein coding gene
Automated Description
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in embryo development; regulation of transcription by RNA polymerase II; and skeletal system development. Predicted to act upstream of or within several processes, including alpha-beta T cell differentiation; parathyroid gland development; and thymus development. Predicted to be located in chromatin. Implicated in branchiootorenal syndrome.
RGD Description
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45636
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
21.706M21.708M21.710M21.712M21.714M21.716M21.718M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions