Reviewed,
UniProtKB/Swiss-Prot P26367 (PAX6_HUMAN)
Last modified
June 16, 2009.
Version 116.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: Paired box protein Pax-6 Alternative name(s): Oculorhombin Aniridia type II protein | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 422 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| 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 By similarity. 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. Isoform 5a appears to function as a molecular switch that specifies target genes. |
| Subunit structure | Interacts with MAF and MAFB By similarity. |
| Subcellular location | |
| 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. |
| Involvement in disease | Defects in PAX6 are the cause of aniridia type II (AN2) [MIM:106210]. AN2 is a bilateral panocular disorder characterized by complete or partial absence of the iris, absence of the fovea and malformations of the lens and anterior chamber. Severe age-related corneal degeneration is a frequent complication which contributes to a poor visual prognostis in aniridia. About one third of the cases are sporadic, and two thirds are familial, with autosomal dominant inheritance and high penetrance. Nearly one third of sporadic AN patients develop Wilms tumor in association with genitourinary anomalies and mental retardation (WAGR syndrome) as a consequence of heterozygous (sub)microscopic deletions of chromosome 11p13. Ref.11 Ref.14 Ref.15 Ref.16 Ref.18 Ref.20 Ref.21 Ref.22 Ref.23 Ref.25 Ref.26 Ref.27 Ref.28 Ref.30 Ref.31 Ref.32 Defects in PAX6 are a cause of Peters anomaly [MIM:604229]. Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. Ref.12 Ref.29 Defects in PAX6 are a cause of ectopia pupillae [MIM:129750]. It is a congenital eye malformation in which the pupils are displaced from their normal central position. Ref.21 Defects in PAX6 are a cause of foveal hypoplasia [MIM:136520]. Foveal hypoplasia can be isolated or associated with presenile cataract. Inheritance is autosomal dominant. Ref.21 Ref.13 Defects in PAX6 are a cause of autosomal dominant keratitis [MIM:148190]. It is an eye disorder characterized by corneal opacification and vascularization, and by foveal hypoplasia. Defects in PAX6 are a cause of ocular coloboma [MIM:120200]; also known as uveoretinal coloboma or coloboma of iris, choroid and retina. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Severe colobomatous malformations may cause as much as 10% of the childhood blindness. The clinical presentation of ocular coloboma is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. Defects in PAX6 are a cause of coloboma of optic nerve [MIM:120430]. Defects in PAX6 are a cause of bilateral optic nerve hypoplasia [MIM:165550]; also known as bilateral optic nerve aplasia. Inheritance is autosomal dominant. Defects in PAX6 are a cause of Gillespie syndrome [MIM:206700]; also called aniridia cerebellar ataxia and mental deficiency. Gillespie syndrome is a rare condition consisting of partial rudimentary iris, cerebellar impairment of the ability to perform smoothly coordinated voluntary movements, and mental retardation. It is not yet clear whether the disorder has an autosomal recessive or dominant inheritance. Ref.33 |
| Sequence similarities | Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain. Contains 1 paired domain. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| Dynll1 | P63168 | 2 | EBI-747278,EBI-349121 | From a different organism. |
| HOMER3 | Q9NSC5 | 2 | EBI-747278,EBI-748420 | |
| TRIM11 | Q96F44 | 2 | EBI-747278,EBI-851809 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P26367-1) 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: P26367-2) Also known as: Pax6-5a; The sequence of this isoform differs from the canonical sequence as follows: 47-47: Q → QTHADAKVQVLDNQN | ||||||
| Isoform 3 (identifier: P26367-3) Also known as: Pax6-5A,6*; The sequence of this isoform is not available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 422 | 422 | Paired box protein Pax-6 | PRO_0000050185 | |||||||||||||||||||||||||||||||
Regions | |||||||||||||||||||||||||||||||||||
| Domain | 4 – 130 | 127 | Paired | ||||||||||||||||||||||||||||||||
| DNA binding | 210 – 269 | 60 | Homeobox Ref.7 | ||||||||||||||||||||||||||||||||
| Compositional bias | 131 – 209 | 79 | Gln/Gly-rich | ||||||||||||||||||||||||||||||||
| Compositional bias | 279 – 422 | 144 | Pro/Ser/Thr-rich | ||||||||||||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||||||||||||
| Alternative sequence | 47 | 1 | Q → QTHADAKVQVLDNQN in isoform 5a. | VSP_002366 | |||||||||||||||||||||||||||||||
| Natural variant | 17 | 1 | N → S in AN2. Ref.18 | VAR_003808 | |||||||||||||||||||||||||||||||
| Natural variant | 18 | 1 | G → W in AN2 and Peters anomaly. | VAR_003809 | |||||||||||||||||||||||||||||||
| Natural variant | 19 | 1 | R → P in AN2. Ref.30 | VAR_047860 | |||||||||||||||||||||||||||||||
| Natural variant | 22 – 26 | 5 | Missing in AN2; sporadic form. Ref.15 Ref.30 | VAR_008693 | |||||||||||||||||||||||||||||||
| Natural variant | 26 | 1 | R → G in Peters anomaly. | VAR_003810 | |||||||||||||||||||||||||||||||
| Natural variant | 29 | 1 | I → S in AN2; sporadic form. Ref.18 Ref.22 | VAR_008694 | |||||||||||||||||||||||||||||||
| Natural variant | 29 | 1 | I → V in AN2. Ref.18 Ref.22 | VAR_003811 | |||||||||||||||||||||||||||||||
| Natural variant | 33 | 1 | A → P in AN2; sporadic form. Ref.21 | VAR_008695 | |||||||||||||||||||||||||||||||
| Natural variant | 37 – 39 | 3 | Missing in AN2; sporadic form. Ref.23 Ref.25 | VAR_008696 | |||||||||||||||||||||||||||||||
| Natural variant | 42 | 1 | I → S in AN2; mild. Ref.20 | VAR_008697 | |||||||||||||||||||||||||||||||
| Natural variant | 43 | 1 | S → P in AN2; sporadic form. Ref.21 | VAR_008698 | |||||||||||||||||||||||||||||||
| Natural variant | 44 | 1 | R → Q in AN2. Ref.18 | VAR_003812 | |||||||||||||||||||||||||||||||
| Natural variant | 46 | 1 | L → R in AN2; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. Ref.31 | VAR_047861 | |||||||||||||||||||||||||||||||
| Natural variant | 52 | 1 | C → R in AN2; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. Ref.31 | VAR_047862 | |||||||||||||||||||||||||||||||
| Natural variant | 53 | 1 | V → D in Peters anomaly, congenital cataract and foveal hypoplasia; Japanese pedigrees. | VAR_008700 | |||||||||||||||||||||||||||||||
| Natural variant | 53 | 1 | V → L in AN2; mild; shows 50% lower DNA-binding and transactivation ability than the wild-type protein. Ref.20 Ref.31 | VAR_008699 | |||||||||||||||||||||||||||||||
| Natural variant | 56 | 1 | I → T in AN2; shows only one-quarter to one-third the binding ability of the normal wild-type protein; exhibits normal transactivation. Ref.31 | VAR_047863 | |||||||||||||||||||||||||||||||
| Natural variant | 63 | 1 | T → P in AN2; mild. Ref.20 | VAR_008701 | |||||||||||||||||||||||||||||||
| Natural variant | 64 | 1 | G → V in foveal hypoplasia; associated with presenile cataract syndrome. Ref.21 | VAR_008702 | |||||||||||||||||||||||||||||||
| Natural variant | 68 | 1 | P → S in morning glory disk anomaly; significant impairment of transcriptional activation ability. Ref.29 | VAR_017540 | |||||||||||||||||||||||||||||||
| Natural variant | 73 | 1 | G → D in AN2; shows almost no binding efficiency; transcriptional activation ability is about 80% of that of the wild-type protein. Ref.31 | VAR_047864 | |||||||||||||||||||||||||||||||
| Natural variant | 79 | 1 | A → E in AN2; mild. Ref.20 | VAR_008703 | |||||||||||||||||||||||||||||||
| Natural variant | 87 | 1 | I → K in AN2. Ref.14 Ref.31 | VAR_047865 | |||||||||||||||||||||||||||||||
| Natural variant | 87 | 1 | I → R in AN2; loss of activity. Ref.14 Ref.31 | VAR_003813 | |||||||||||||||||||||||||||||||
| Natural variant | 118 | 1 | P → R in nystagmus; associated with a variant form of aniridia. Ref.24 | VAR_015065 | |||||||||||||||||||||||||||||||
| Natural variant | 119 | 1 | S → R in AN2; sporadic form. Ref.22 Ref.26 | VAR_008704 | |||||||||||||||||||||||||||||||
| Natural variant | 125 | 1 | R → C in foveal hypoplasia; isolated. Ref.13 | VAR_017541 | |||||||||||||||||||||||||||||||
| Natural variant | 126 | 1 | V → D in ectopia pupillae. Ref.21 | VAR_008705 | |||||||||||||||||||||||||||||||
| Natural variant | 128 | 1 | R → C in foveal hypoplasia; isolated. Ref.13 | VAR_003814 | |||||||||||||||||||||||||||||||
| Natural variant | 178 | 1 | Q → H in AN2. Ref.18 | VAR_003815 | |||||||||||||||||||||||||||||||
| Natural variant | 208 | 1 | R → Q in AN2; mild. Ref.11 Ref.20 | VAR_008706 | |||||||||||||||||||||||||||||||
| Natural variant | 208 | 1 | R → W in AN2. Ref.11 Ref.20 | VAR_003816 | |||||||||||||||||||||||||||||||
| Natural variant | 242 | 1 | R → T in AN2; the mutant homeodomain binds DNA as well as the wild-type homeodomain; the mutant does not modify the DNA-binding properties of the paired domain; the steady-state levels of the full length mutant protein are higher than those of the wild-type one; a responsive promoter is activated to a higher extend by the mutant protein than by the wild-type protein; the presence of the mutation reduces sensitivity to trypsin digestion. Ref.28 Ref.32 | VAR_047866 | |||||||||||||||||||||||||||||||
| Natural variant | 258 | 1 | F → S in ocular coloboma; significant impairment of transcriptional activation ability. Ref.29 | VAR_017542 | |||||||||||||||||||||||||||||||
| Natural variant | 292 | 1 | S → I in bilateral optic nerve hypoplasia; significant impairment of transcriptional activation ability. Ref.29 | VAR_017543 | |||||||||||||||||||||||||||||||
| Natural variant | 321 | 1 | A → T Shows about two-fold higher binding efficiency than the normal wild-type protein; transcriptional activation ability is about 89% of that of the wild-type protein. Ref.31 | VAR_047867 | |||||||||||||||||||||||||||||||
| Natural variant | 353 | 1 | S → A in AN2; familial form. Ref.22 | VAR_008707 | |||||||||||||||||||||||||||||||
| Natural variant | 363 | 1 | S → P in Peters anomaly. | VAR_017544 | |||||||||||||||||||||||||||||||
| Natural variant | 375 | 1 | P → Q in AN2; reduced DNA binding ability. Ref.27 | VAR_015066 | |||||||||||||||||||||||||||||||
| Natural variant | 378 | 1 | Q → R in optic nerve aplasia. Ref.29 | VAR_017545 | |||||||||||||||||||||||||||||||
| Natural variant | 381 | 1 | M → V in bilateral optic nerve hypoplasia. Ref.29 | VAR_017546 | |||||||||||||||||||||||||||||||
| Natural variant | 387 | 1 | G → D Ref.25 | VAR_047868 | |||||||||||||||||||||||||||||||
| Natural variant | 391 | 1 | T → A in bilateral optic nerve aplasia. Ref.29 | VAR_017547 | |||||||||||||||||||||||||||||||
| Natural variant | 422 | 1 | Q → R in AN2 and ocular anterior segment anomalies; loss of DNA binding ability. | VAR_008708 | |||||||||||||||||||||||||||||||
Experimental info | |||||||||||||||||||||||||||||||||||
| Sequence conflict | 317 | 1 | R → L in AAA59963. Ref.1 | ||||||||||||||||||||||||||||||||
| Sequence conflict | 317 | 1 | R → L in AAA59962. Ref.1 | ||||||||||||||||||||||||||||||||
| Sequence conflict | 369 | 1 | Y → C in CAE45868. Ref.4 | ||||||||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||||||||
| Beta strand | 6 – 8 | 3 | |||||||||||||||||||||||||||||||||
| Beta strand | 14 – 16 | 3 | |||||||||||||||||||||||||||||||||
| Helix | 23 – 34 | 12 | |||||||||||||||||||||||||||||||||
| Helix | 39 – 46 | 8 | |||||||||||||||||||||||||||||||||
| Helix | 50 – 63 | 14 | |||||||||||||||||||||||||||||||||
| Beta strand | 77 – 79 | 3 | |||||||||||||||||||||||||||||||||
| Helix | 81 – 93 | 13 | |||||||||||||||||||||||||||||||||
| Helix | 99 – 108 | 10 | |||||||||||||||||||||||||||||||||
| Turn | 114 – 116 | 3 | |||||||||||||||||||||||||||||||||
| Helix | 120 – 133 | 14 | |||||||||||||||||||||||||||||||||
| Helix | 219 – 229 | 11 | |||||||||||||||||||||||||||||||||
| Helix | 237 – 246 | 10 | |||||||||||||||||||||||||||||||||
| Helix | 251 – 275 | 25 | |||||||||||||||||||||||||||||||||
Sequences
| ||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region." Ton C.C.T., Hirvonen H., Miwa H., Weil M.M., Monaghan P., Jordan T., van Heyningen V., Hastie N.D., Meijers-Heijboer H., Drechsler M., Royer-Pokora B., Collins F.S., Swaroop A., Strong L.C., Saunders G.F. Cell 67:1059-1074(1991) [PubMed: 1684738] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene." Glaser T., Walton D.S., Maas R.L. Nat. Genet. 2:232-239(1992) [PubMed: 1345175] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [3] | Liu J., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B. Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM PAX6). |
| [4] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5A). Tissue: Cerebellum. |
| [5] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Lung. |
| [7] | "Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing." Epstein J.A., Glaser T., Cai J., Jepeal L., Walton D.S., Maas R.L. Genes Dev. 8:2022-2034(1994) [PubMed: 7958875] [Abstract] Cited for: ALTERNATIVE SPLICING, DNA-BINDING. |
| [8] | "Crystal structure of the human Pax-6 paired domain-DNA complex reveals specific roles for the linker region and carboxyl-terminal subdomain in DNA binding." Xu H.E., Rould M.A., Xu W., Epstein J.A., Maas R.L., Pabo C.O. Genes Dev. 13:1263-1275(1999) [PubMed: 10346815] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 4-136. |
| [9] | "PAX6 mutations reviewed." Prosser J., van Heyningen V. Hum. Mutat. 11:93-108(1998) [PubMed: 9482572] [Abstract] Cited for: REVIEW ON VARIANTS. |
| [10] | "Solution structure of the homeobox domain of the human paired box protein PAX-6." RIKEN structural genomics initiative (RSGI) Submitted (NOV-2005) to the PDB data bank Cited for: STRUCTURE BY NMR OF 211-277. |
| [11] | "PAX6 mutations in aniridia." Hanson I.M., Seawright A., Hardman K., Hodgson S., Zaletayev D., Fekete G., van Heyningen V. Hum. Mol. Genet. 2:915-920(1993) [PubMed: 8364574] [Abstract] Cited for: VARIANT AN2 TRP-208. |
| [12] | "Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly." Hanson I.M., Fletcher J.M., Jordan T., Brown A., Taylor D., Adams R.J., Punnet H.H., van Heyningen V. Nat. Genet. 6:168-173(1994) [PubMed: 8162071] [Abstract] Cited for: VARIANT PETERS ANOMALY GLY-26. |
| [13] | "PAX6 missense mutation in isolated foveal hypoplasia." Azuma N., Nishina S., Yanagisawa H., Okuyama T., Yamada M. Nat. Genet. 13:141-142(1996) [PubMed: 8640214] [Abstract] Cited for: VARIANTS FOVEAL HYPOPLASIA CYS-125 AND CYS-128. |
| [14] | "Functional analysis of paired box missense mutations in the PAX6 gene." Tang H.K., Chao L.-Y., Saunders G.F. Hum. Mol. Genet. 6:381-386(1997) [PubMed: 9147640] [Abstract] Cited for: VARIANT AN2 ARG-87, VARIANT GLY-26. |
| [15] | "Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations." Axton R., Hanson I.M., Love J., Seawright A., Prosser J., van Heyningen V. Mol. Cell. Probes 11:287-292(1997) [PubMed: 9281415] [Abstract] Cited for: VARIANT AN2 22-PRO--ARG-26 DEL. |
| [16] | "Ten novel mutations found in Aniridia." Wolf M.T.F., Lorenz B., Winterpacht A., Drechsler M., Schumacher V., Royer-Pokora B., Blankenagel A., Zabel B., Wildhardt G. Hum. Mutat. 12:304-313(1998) [PubMed: 9792406] [Abstract] Cited for: VARIANT AN2 TRP-18. |
| [17] | "Missense mutation at the C-terminus of the PAX6 gene in ocular anterior segment anomalies." Azuma N., Yamada M. Invest. Ophthalmol. Vis. Sci. 39:828-830(1998) [PubMed: 9538891] [Abstract] Cited for: VARIANT EYE MALFORMATIONS ARG-422. |
| [18] | "Missense mutations in the PAX6 gene in aniridia." Azuma N., Hotta Y., Tanaka H., Yamada M. Invest. Ophthalmol. Vis. Sci. 39:2524-2528(1998) [PubMed: 9856761] [Abstract] Cited for: VARIANTS AN2 SER-17; VAL-29; GLN-44 AND HIS-178. |
| [19] | "Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies." Azuma N., Yamaguchi Y., Handa H., Hayakawa M., Kanai A., Yamada M. Am. J. Hum. Genet. 65:656-663(1999) [PubMed: 10441571] [Abstract] Cited for: VARIANT EYE MALFORMATIONS ASP-53. |
| [20] | "Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype." Groenskov K., Rosenberg T., Sand A., Broendum-Nielsen K. Eur. J. Hum. Genet. 7:274-286(1999) [PubMed: 10234503] [Abstract] Cited for: ALTERNATIVE SPLICING, VARIANTS AN2 SER-42; LEU-53; PRO-63; GLU-79 AND GLN-208. |
| [21] | "Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations." Hanson I.M., Churchill A., Love J., Axton R., Moore T., Clarke M., Meire F., van Heyningen V. Hum. Mol. Genet. 8:165-172(1999) [PubMed: 9931324] [Abstract] Cited for: VARIANTS AN2 PRO-33 AND PRO-43, VARIANT FOVEAL HYPOPLASIA VAL-64, VARIANT ECTOPIA PUPILLAE ASP-126. |
| [22] | Wildhardt G. Unpublished observations (APR-1999) Cited for: VARIANTS AN2 SER-29; ARG-119 AND ALA-353. |
| [23] | Saunders G.F. Unpublished observations (AUG-1999) Cited for: VARIANT AN2 37-ALA--PRO-39 DEL. |
| [24] | "A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia." Sonoda S., Isashiki Y., Tabata Y., Kimura K., Kakiuchi T., Ohba N. Graefes Arch. Clin. Exp. Ophthalmol. 238:552-558(2000) [PubMed: 10955655] [Abstract] Cited for: VARIANT NYSTAGMUS ARG-118. |
| [25] | "Mutation in the PAX6 gene in twenty patients with aniridia." Chao L.-Y., Huff V., Strong L.C., Saunders G.F. Hum. Mutat. 15:332-339(2000) [PubMed: 10737978] [Abstract] Cited for: VARIANT AN2 37-ARG--PRO-39 DEL, VARIANT ASP-387. |
| [26] | "PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation." Malandrini A., Mari F., Palmeri S., Gambelli S., Berti G., Bruttini M., Bardelli A.M., Williamson K., van Heyningen V., Renieri A. Clin. Genet. 60:151-154(2001) [PubMed: 11553050] [Abstract] Cited for: VARIANT AN2 ARG-119. |
| [27] | "Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function." Singh S., Chao L.-Y., Mishra R., Davies J., Saunders G.F. Hum. Mol. Genet. 10:911-918(2001) [PubMed: 11309364] [Abstract] Cited for: VARIANTS AN2 GLN-375 AND ARG-422. |
| [28] | "National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology." Morrison D., FitzPatrick D., Hanson I., Williamson K., van Heyningen V., Fleck B., Jones I., Chalmers J., Campbell H. J. Med. Genet. 39:16-22(2002) [PubMed: 11826019] [Abstract] Cited for: VARIANT AN2 THR-242. |
| [29] | "Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations." Azuma N., Yamaguchi Y., Handa H., Tadokoro K., Asaka A., Kawase E., Yamada M. Am. J. Hum. Genet. 72:1565-1570(2003) [PubMed: 12721955] [Abstract] Cited for: VARIANT MORNING GLORY DISK ANOMALY SER-68, VARIANT OCULAR COLOBOMA SER-258, VARIANT PETERS ANOMALY PRO-363, VARIANTS OPTIC NERVE HYPOPLASIA/APLASIA ILE-292; ARG-378; VAL-381 AND ALA-391. |
| [30] | "Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects." Vincent M.-C., Pujo A.-L., Olivier D., Calvas P. Eur. J. Hum. Genet. 11:163-169(2003) [PubMed: 12634864] [Abstract] Cited for: VARIANTS AN2 PRO-19 AND 22-PRO--ARG-26 DEL. |
| [31] | "Missense mutations in the DNA-binding region and termination codon in PAX6." Chao L.-Y., Mishra R., Strong L.C., Saunders G.F. Hum. Mutat. 21:138-145(2003) [PubMed: 12552561] [Abstract] Cited for: VARIANTS AN2 ARG-46; ARG-52; THR-56; ASP-73 AND LYS-87, VARIANT THR-321, CHARACTERIZATION OF VARIANTS AN2 ARG-46; ARG-52; LEU-53; THR-56 AND ASP-73, CHARACTERIZATION OF VARIANT THR-321. |
| [32] | "Molecular analysis of a human PAX6 homeobox mutant." D'Elia A.V., Puppin C., Pellizzari L., Pianta A., Bregant E., Lonigro R., Tell G., Fogolari F., van Heyningen V., Damante G. Eur. J. Hum. Genet. 14:744-751(2006) [PubMed: 16493447] [Abstract] Cited for: CHARACTERIZATION OF VARIANT AN2 THR-242. |
| [33] | "A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation." Graziano C., D'Elia A.V., Mazzanti L., Moscano F., Guidelli Guidi S., Scarano E., Turchetti D., Franzoni E., Romeo G., Damante G., Seri M. Am. J. Med. Genet. A 143:1802-1805(2007) [PubMed: 17595013] [Abstract] Cited for: INVOLVEMENT IN GILLESPIE SYNDROME. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M77844 mRNA. Translation: AAA59963.1. M77844 mRNA. Translation: AAA59962.1. M93650 mRNA. Translation: AAA36416.1. AY047583 mRNA. Translation: AAK95849.1. BX640762 mRNA. Translation: CAE45868.1. Z95332, Z83307 Genomic DNA. Translation: CAG38363.1. Z83307, Z95332 Genomic DNA. Translation: CAG38087.1. BC011953 mRNA. Translation: AAH11953.1. | |||||||||||||||||||
| IPI | IPI00218800. IPI00449071. | ||||||||||||||||||
| PIR | A56674. | ||||||||||||||||||
| RefSeq | NP_000271.1. NP_001121084.1. NP_001595.2. | ||||||||||||||||||
| UniGene | Hs.270303 Hs.611376 | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| |||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| IntAct | P26367. 4 interactions. | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | P26367. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PRIDE | P26367. | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENSG00000007372. Homo sapiens. [Contig view] | ||||||||||||||||||
| GeneID | 5080. | ||||||||||||||||||
| KEGG | hsa:5080. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| GeneCards | GC11M031768. | ||||||||||||||||||
| H-InvDB | HIX0009529. | ||||||||||||||||||
| HGNC | HGNC:8620. PAX6. | ||||||||||||||||||
| MIM | 106210. phenotype. 120200. phenotype. 120430. phenotype. 129750. phenotype. 136520. phenotype. 148190. phenotype. 165550. phenotype. 206700. phenotype. 604229. phenotype. 607108. gene. | ||||||||||||||||||
| Orphanet | 77. Aniridia. 2253. Foveal hypoplasia - presenile cataract. 2334. Keratitis, hereditary. 194. Ocular coloboma. 708. Peters anomaly. 893. WAGR syndrome. | ||||||||||||||||||
| PharmGKB | PA32960. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| HOVERGEN | P26367. | ||||||||||||||||||
| OMA | P26367. AGENTNS. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | P26367. | ||||||||||||||||||
| Bgee | P26367. | ||||||||||||||||||
| CleanEx | HS_PAX6. | ||||||||||||||||||
| GermOnline | ENSG00000007372. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR012287. Homeodomain-rel. IPR001523. Paired_box_N. IPR011991. Wing_hlx_DNA_bd. [Graphical view] | ||||||||||||||||||
| Gene3D | G3DSA:1.10.10.60. Homeodomain-rel. 1 hit. G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 2 hits. | ||||||||||||||||||
| Pfam | PF00046. Homeobox. 1 hit. PF00292. PAX. 1 hit. [Graphical view] | ||||||||||||||||||
| PRINTS | PR00027. PAIREDBOX. | ||||||||||||||||||
| ProDom | PD000010. Homeobox. 1 hit. [Graphical view] [Entries sharing at least one domain] | ||||||||||||||||||
| SMART | SM00389. HOX. 1 hit. SM00351. PAX. 1 hit. [Graphical view] | ||||||||||||||||||
| PROSITE | PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. PS00034. PAIRED_1. 1 hit. PS51057. PAIRED_2. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other Resources | |||||||||||||||||||
| NextBio | 19596. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | PAX6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P26367 Secondary accession number(s): Q6N006, Q99413 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


