UNIPROT #

P26367

PROTEIN NAME

PAX6

SYNONYMS

AN 2 antibody; AN antibody; AN2 antibody; Aniridia type II protein antibody; D11S812E antibody; FVH1 antibody; KIAA0552 antibody; Leucine zipper putative tumor suppressor 3 antibody; LZTS3 antibody; MGC17209 antibody; MGDA antibody; Oculorhombin antibody; Paired box 6 antibody; Paired box gene 6 (aniridia keratitis) antibody; Paired Box Gene 6 antibody; Paired box homeotic gene 6 antibody; Paired box protein Pax-6 antibody; Paired box protein Pax6 antibody; PAX 6 antibody; PAX6 antibody; PAX6_HUMAN antibody; ProSAP-interacting protein 1 antibody; PROSAPIP1 antibody; Sey antibody; WAGR antibody

SEQUENCE SIMILARITIES

Belongs to the paired homeobox family.

TISSUE SPECIFICITY

Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6 shorter form.

DEVELOPMENTAL STAGE

Expressed in the developing eye and brain. Expression in the retina peaks at fetal days 51-60. At 6-week old, in the retina, is predominantly detected in the neural layer (at protein level). At 8- and 10-week old, in the retina, the expression is strongest in the inner and middle layer of the neural part (at protein level).

POST-TRANSLATIONAL MODIFICATION

Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation.

SUBCELLULAR LOCATION

Nucleus.

FUNCTION

Pax genes contain paired domains with strong homology to genes in Drosophila which are involved in programming early development. Lesions in the Pax-6 gene account for most cases of aniridia, a congenital malformation of the eye, chiefly characterized by iris hypoplasia, which can cause blindness. Pax-6 is involved in other anterior segment malformations besides aniridia, such as Peters anomaly, a major error in the embryonic development of the eye with corneal clouding with variable iridolenticulocorneal adhesions. The Pax-6 gene encodes a transcriptional regulator that recognizes target genes through its paired-type DNA-binding domain. The paired domain is composed of two distinct DNA-binding subdomains, the amino-terminal subdomain and the carboxy-terminal subdomain, which bind respective consensus DNA sequences. The human Pax-6 gene produces two alternatively spliced isoforms that have the distinct structure of the paired domain.