P63015 (PAX6_MOUSE) Reviewed, UniProtKB/Swiss-Prot
Last modified July 9, 2014. Version 118. History...
Names and origin
|Protein names||Recommended name:|
Paired box protein Pax-6
|Organism||Mus musculus (Mouse) [Reference proteome]|
|Taxonomic identifier||10090 [NCBI]|
|Taxonomic lineage||Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus|
|Sequence length||422 AA.|
|Protein existence||Evidence at protein level|
General annotation (Comments)
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. Ref.8
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. Ref.9 Ref.10
Isoform 1 and isoform 3 are the major isoforms among different eye tissues. Isoform 1 and isoform 3 are expressed in the retina and cornea. In the lens epithelium, isoform 1 is relatively abundant, but isoform 3 is barely detectable. Ref.11
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. Isoform 3 is expressed in the developing eye at day 9.5 of embryonic development and the expression becomes much stronger at day 11.5 of embryonic development. At these stages, it is detected in neural tube and optic and lens vesicles. Isoform 3 expression is down-regulated by day 12.5 of embryonic development and becomes significantly decreased from day 14.5 to day 18.5 of embryonic development. Isoform 1 and isoform 3 are the major isoforms in the eye tissues of newborn mice, but a considerable amount of isoform 5a is also detected. Ref.10 Ref.11
|Involvement in disease|
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.
Belongs to the paired homeobox family.
Contains 1 homeobox DNA-binding domain.
Contains 1 paired domain.
The sequence AAA40109.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
|This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]|
|Isoform 1 (identifier: P63015-1) |
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
|Isoform 5a (identifier: P63015-2) |
Also known as: Pax6-5a;
The sequence of this isoform differs from the canonical sequence as follows:
47-47: Q → QTHADAKVQVLDNEN
|Isoform 3 (identifier: P63015-3) |
Also known as: p32;
The sequence of this isoform differs from the canonical sequence as follows:
Sequence annotation (Features)
|Feature key||Position(s)||Length||Description||Graphical view||Feature identifier|
|Chain||1 – 422||422||Paired box protein Pax-6||PRO_0000050186|
|Domain||4 – 130||127||Paired|
|DNA binding||210 – 269||60||Homeobox|
|Compositional bias||131 – 209||79||Gln/Gly-rich|
|Compositional bias||279 – 422||144||Pro/Ser/Thr-rich|
|Alternative sequence||1 – 136||136||Missing in isoform 3.||VSP_054294|
|Alternative sequence||47||1||Q → QTHADAKVQVLDNEN in isoform 5a.||VSP_011530|
|Natural variant||259||1||S → P in Pax6(4Neu); defective. Ref.2|
|Sequence conflict||18||1||G → E in BAC25729. Ref.3|
|Sequence conflict||31||1||E → Q in BAC25729. Ref.3|
|Sequence conflict||287||1||I → T in AAA40109. Ref.6|
|Sequence conflict||421 – 422||2||Missing in AAA40109. Ref.6|
|||"Pax-6, a murine paired box gene, is expressed in the developing CNS."|
Walther C., Gruss P.
Development 113:1435-1449(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 5A), PARTIAL PROTEIN SEQUENCE.
|||"Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus."|
Favor J., Peters H., Hermann T., Schmahl W., Chatterjee B., Neuhauser-Klaus A., Sandulache R.
Genetics 159:1689-1700(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 5A), VARIANT PRO-259.
|||"The transcriptional landscape of the mammalian genome."|
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
|||"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."|
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5A).
Strain: Czech II.
Tissue: Eye and Mammary tumor.
|||"Pax: a murine multigene family of paired box-containing genes."|
Walther C., Guenet J.-L., Simon D., Deutsch U., Jostes B., Goulding M.D., Plachov D., Balling R., Gruss P.
Genomics 11:424-434(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-131 (ISOFORM 1).
|||"Small eye (Sey): cloning and characterization of the murine homolog of the human aniridia gene."|
Ton C.C.T., Miwa H., Saunders G.F.
Genomics 13:251-256(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 45-422 (ISOFORM 1).
|||"Mouse small eye results from mutations in a paired-like homeobox-containing gene."|
Hill R.E., Favor J., Hogan B.L.M., Ton C.C.T., Saunders G.F., Hanson I.M., Prosser J., Jordan T., Hastie N.D., van Heyningen V.
Nature 354:522-525(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SEY.
|||"Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas."|
St Onge L., Sosa-Pineda B., Chowdhury K., Mansouri A., Gruss P.
Nature 387:406-409(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN PANCREAS.
|||"Pax-6 and c-Maf functionally interact with the alpha-cell-specific DNA element G1 in vivo to promote glucagon gene expression."|
Gosmain Y., Avril I., Mamin A., Philippe J.
J. Biol. Chem. 282:35024-35034(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH MAF AND MAFB.
|||"Trim11 modulates the function of neurogenic transcription factor Pax6 through ubiquitin-proteosome system."|
Tuoc T.C., Stoykova A.
Genes Dev. 22:1972-1986(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH TRIM11, UBIQUITINATION, DEVELOPMENTAL STAGE.
|||"Sumoylation activates the transcriptional activity of Pax-6, an important transcription factor for eye and brain development."|
Yan Q., Gong L., Deng M., Zhang L., Sun S., Liu J., Ma H., Yuan D., Chen P.C., Hu X., Liu J., Qin J., Xiao L., Huang X.Q., Zhang J., Li D.W.
Proc. Natl. Acad. Sci. U.S.A. 107:21034-21039(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, SUMOYLATION.
|+||Additional computationally mapped references.|
|Accession||Primary (citable) accession number: P63015|
Secondary accession number(s): P32117 Q921Q8
|Entry status||Reviewed (UniProtKB/Swiss-Prot)|
|Annotation program||Chordata Protein Annotation Program|