PAX1
Sign in to saveAlso known as HUP48, OFC2, paired box 1
Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene.
Gene data
PAX1- Name
- paired box 1
- Type
- protein-coding
- Position
- 21,705,659–21,718,481 (+)
- Aliases
- HUP48, OFC2, OTFCS2
- Ensembl
- ENSG00000125813
- RefSeq RNA
- NM_001257096.2, NM_006192.5
- RefSeq protein
- NP_001244025.1, NP_006183.2
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].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
paired box 1
- Symbol
- PAX1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 20:21,705,659-21,718,481
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 4514
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/5075
- genomic end
- 21718481
- genomic start
- 21686297
- chromosome
- human chromosome 20
- cytogenetic location
- 20p11.22
via Wikidata · CC0
~1 min read
Encyclopedic overview
6 sectionsContents
- Function
- Interactions
- See also
- References
- Further reading
- External links
Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene.
== Function == This gene is a member of the paired box (PAX) family of transcription factors which are essential during fetal development. It is required for the development of the ventral vertebral column. Its expression is limited to the pharyngeal pouches and the cells that surround the developing vertebrae near the top where the head will be established to help give rise to the neck and the start of the formation of the shoulders and arm buds.
Excerpted from Wikipedia’s “PAX1” article, available under the CC BY-SA 4.0 licence.