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paired box protein PAX6; oculorhombin; aniridia type II protein (PAX6, AN2)
Function:
- transcription factor
- role in development of the eye, nose, central nervous system & pancreas
- required for differentiation of pancreatic islet alpha cells (putative)
- competes with PAX4 in binding to a common element in the glucagon, insulin & somatostatin promoters
- regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (putative).
- isoform 5a appears to function as a molecular switch that specifies target genes
Structure:
- belongs to the paired homeobox family
- contains 1 homeobox DNA-binding domain
- contains 1 paired domain
Compartment: nucleus
Alternative splicing: named isoforms=3
Expression:
- fetal eye, brain, spinal cord & olfactory epithelium
- isoform 5a is less abundant than the PAX6 shorter form
- expressed in the developing eye & brain
Pathology:
- defects in PAX6 are the cause of
a) aniridia type 2
b) Peters anomaly
c) ectopia pupillae
d) foveal hypoplasia
e) autosomal dominant keratitis
f) ocular coloboma
g) coloboma of optic nerve
h) bilateral optic nerve hypoplasia
General
paired box protein (PAX)
Properties
SIZE: MW = 47 kD
entity length = 422 aa
COMPARTMENT: cell nucleus
MOTIF: paired box
SITE: 4-130
glycine-rich region {131-209}
homeodomain
SITE: 210-269
threonine-rich region {279-422}
MOTIF: threonine residue (SEVERAL)
Database Correlations
OMIM 106210
UniProt P26367
PFAM correlations
Entrez Gene 5080
Kegg hsa:5080
References
- UniProt :accession P26367
- Entrez Gene :accession 5080
- Human PAX6 allelic variant database web site
http://pax6.hgu.mrc.ac.uk/
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX6