Mouse Gene Pax6 (ENSMUST00000111086.10) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
Description: Mus musculus paired box 6 (Pax6), transcript variant 1, mRNA. (from RefSeq NM_001244198) RefSeq Summary (NM_001244198): This gene encodes a homeobox-containing protein that functions as a regulator of transcription. It plays a key role in the development of neural tissues, particularly the eye. Activity of this protein is also required for expression of glucagon in the pancreas. This gene is regulated by multiple enhancers located up to tens or hundreds of kilobases upstream and downstream of the transcription start sites. Mutations in this gene or deletion of these regulatory elements results in severe defects in eye development. Alternative splicing and the use of alternative promoters results in multiple transcript variants, some of which encode proteins that lack the N-terminal paired domain. [provided by RefSeq, Jul 2015]. Gencode Transcript: ENSMUST00000111086.10 Gencode Gene: ENSMUSG00000027168.21 Transcript (Including UTRs) Position: mm10 chr2:105,668,900-105,697,364 Size: 28,465 Total Exon Count: 13 Strand: + Coding Region Position: mm10 chr2:105,680,298-105,696,355 Size: 16,058 Coding Exon Count: 11
ID:PAX6_MOUSE DESCRIPTION: RecName: Full=Paired box protein Pax-6; AltName: Full=Oculorhombin; FUNCTION: Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells. Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). SUBUNIT: Interacts with MAF and MAFB. Interacts with TRIM11; this interaction leads to ubiquitination and proteasomal degradation, as well as inhibition of transactivation, possibly in part by preventing PAX6 binding to consensus DNA sequences. SUBCELLULAR LOCATION: Nucleus. DEVELOPMENTAL STAGE: Expressed in the developing eye, nose, brain and pancreas. At 9 dpc, expressed in the telencephalon, diencephalon, neural tube, optic vesicle and pancreas. Throughout development, expression continues in the dorsal and ventral pancreas. Expressed during cortical neurogenesis from 11 to 18 dpc. High levels in the early radial glial progenitors from 11 to 14 dpc and gradually decrease thereafter (at protein level). During corticogenesis, the protein level declines faster than that of the mRNA, due to proteasomal degradation. In newborn animals, becomes restricted to endocrine cells of the islets of Langerhans. PTM: Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation. DISEASE: Note=Defects in Pax6 are the cause of a condition known as small eye (Sey) which results in the complete lack of eyes and nasal primordia. SIMILARITY: Belongs to the paired homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain. SIMILARITY: Contains 1 paired domain. SEQUENCE CAUTION: Sequence=AAA40109.1; Type=Erroneous initiation;
ModBase Predicted Comparative 3D Structure on P63015
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.