Reactome | UniProt:P26367 PAX6

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UniProt:P26367 PAX6 Show undefined attributes

chain	chain:1-422
checksum	C33CDD2C1B13C397
comment	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). Acts as a transcriptional repressor of NFATC1-mediated gene expression (By similarity).SUBUNIT Interacts with MAF and MAFB (By similarity). 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 (By similarity). Interacts with TLE6/GRG6 (By similarity).INTERACTION Expressed in lymphoblasts.TISSUE SPECIFICITY Weakly expressed in lymphoblasts.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).PTM Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The gene represented in this entry is involved in disease pathogenesis. A mutation in a PAX6 long-range cis-regulatory element, known as SIMO, affects PAX6 expression in the developing eye and has pathological consequences. The mutation is located in ELP4 intron 9, 150 kb downstream of PAX6.SIMILARITY Belongs to the paired homeobox family.
created	[InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35
crossReference	[DatabaseIdentifier:11487472] ENSEMBL:ENSG00000007372 [DatabaseIdentifier:12402661] RefSeq:NP_001297087.1 [DatabaseIdentifier:12402660] RefSeq:NP_001245393.1 [DatabaseIdentifier:12402659] RefSeq:NP_001245392.1 [DatabaseIdentifier:12402649] RefSeq:NP_001121084.1 [DatabaseIdentifier:12402662] RefSeq:NP_001297088.1 [DatabaseIdentifier:12402655] RefSeq:NP_001355816.1 [DatabaseIdentifier:12402652] RefSeq:NP_001355820.1 [DatabaseIdentifier:12402651] RefSeq:NP_001355821.1 [DatabaseIdentifier:12402654] RefSeq:NP_001355819.1 [DatabaseIdentifier:12402657] RefSeq:NP_001355817.1 [DatabaseIdentifier:12402656] RefSeq:NP_001355818.1 [DatabaseIdentifier:12402653] RefSeq:NP_000271.1 [DatabaseIdentifier:12402658] RefSeq:NP_001245394.1 [DatabaseIdentifier:12402650] RefSeq:NP_001595.2 [DatabaseIdentifier:12402646] RefSeq:NP_001297090.1 [DatabaseIdentifier:12402647] RefSeq:NP_001355823.1 [DatabaseIdentifier:12402645] RefSeq:NP_001245391.1 [DatabaseIdentifier:12402648] RefSeq:NP_001355822.1 [DatabaseIdentifier:12282316] Pharos - Targets:P26367 [DatabaseIdentifier:12240031] PRO:P26367 [DatabaseIdentifier:12157613] PDB:6PAX [DatabaseIdentifier:12157612] PDB:2CUE [DatabaseIdentifier:12136552] Orphanet:PAX6 [DatabaseIdentifier:12121992] OpenTargets:ENSG00000007372 [DatabaseIdentifier:11837497] HPA:ENSG00000007372-PAX6 [DatabaseIdentifier:11831844] HMDB Protein:HMDBP13589 [DatabaseIdentifier:11799870] GlyGen:P26367 [DatabaseIdentifier:11784400] GeneCards:PAX6 [DatabaseIdentifier:11715018] ENSEMBL:ENST00000419022 [DatabaseIdentifier:11715009] ENSEMBL:ENST00000638914 [DatabaseIdentifier:11715017] ENSEMBL:ENST00000640368 [DatabaseIdentifier:11715014] ENSEMBL:ENST00000640287 [DatabaseIdentifier:11715016] ENSEMBL:ENST00000640610 [DatabaseIdentifier:11715006] ENSEMBL:ENST00000606377 [DatabaseIdentifier:11715013] ENSEMBL:ENST00000379109 [DatabaseIdentifier:11715015] ENSEMBL:ENST00000643871 [DatabaseIdentifier:11715011] ENSEMBL:ENST00000379107 [DatabaseIdentifier:11715005] ENSEMBL:ENST00000639916 [DatabaseIdentifier:11715019] ENSEMBL:ENST00000640975 [DatabaseIdentifier:11715008] ENSEMBL:ENST00000241001 [DatabaseIdentifier:11715010] ENSEMBL:ENST00000379129 [DatabaseIdentifier:11715012] ENSEMBL:ENST00000639409 [DatabaseIdentifier:11715007] ENSEMBL:ENST00000379132 [DatabaseIdentifier:11592309] ENSEMBL:ENSP00000492024 [DatabaseIdentifier:11592318] ENSEMBL:ENSP00000492822 [DatabaseIdentifier:11592308] ENSEMBL:ENSP00000368424 [DatabaseIdentifier:11592315] ENSEMBL:ENSP00000495109 [DatabaseIdentifier:11592316] ENSEMBL:ENSP00000491872 [DatabaseIdentifier:11592313] ENSEMBL:ENSP00000404100 [DatabaseIdentifier:11592320] ENSEMBL:ENSP00000490963 [DatabaseIdentifier:11592317] ENSEMBL:ENSP00000492476 [DatabaseIdentifier:11592307] ENSEMBL:ENSP00000368403 [DatabaseIdentifier:11592306] ENSEMBL:ENSP00000368427 [DatabaseIdentifier:11592311] ENSEMBL:ENSP00000491295 [DatabaseIdentifier:11592310] ENSEMBL:ENSP00000368401 [DatabaseIdentifier:11592319] ENSEMBL:ENSP00000492315 [DatabaseIdentifier:11592314] ENSEMBL:ENSP00000241001 [DatabaseIdentifier:11592312] ENSEMBL:ENSP00000480026
databaseName	UniProt
dbId	403472
description	recommendedName: Paired box protein Pax-6 alternativeName: Aniridia type II protein alternativeName: Oculorhombin
displayName	UniProt:P26367 PAX6
geneName	PAX6 AN2
identifier	P26367
isSequenceChanged	false
keyword	3D-structure Alternative splicing Developmental protein Differentiation Disease variant DNA-binding Homeobox Nucleus Paired box Peters anomaly Proteomics identification Reference proteome Repressor Transcription Transcription regulation Ubl conjugation
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	PAX6
otherIdentifier	11722466_s_at 11722467_s_at 11754849_a_at 16737056 205646_PM_s_at 205646_s_at 235795_PM_at 235795_at 3368043 3368045 3368047 3368049 3368051 3368053 3368055 3368056 3368057 3368058 3368059 3368060 3368061 3368062 3368063 3368064 3368065 3368066 3368067 3368068 3368069 3368070 3368071 3368072 3368073 3368081 3368082 3368083 3368084 3368085 3368086 3368087 3368088 3368089 3368090 3368091 3368092 3368093 3368094 3368095 3368096 3368097 3368098 3368099 3368100 3368101 3368102 3368103 3368104 3368105 3368106 3368107 3368108 3368109 3368110 3368111 3368112 3368113 3368114 3368115 3368116 3368117 3368118 3368119 3368120 3368121 3368122 3368123 3368124 3368125 3368130 3368131 40740_at 5080 7947338 89571_i_at 89573_f_at A_23_P1823 A_33_P3234303 A_33_P3306267 A_33_P3330149 A_33_P3665346 GE58257 GO:0000122 GO:0000132 GO:0000785 GO:0000976 GO:0000978 GO:0000979 GO:0000981 GO:0001221 GO:0001227 GO:0001228 GO:0001568 GO:0001654 GO:0001709 GO:0001764 GO:0002052 GO:0002088 GO:0003002 GO:0003309 GO:0003322 GO:0003677 GO:0003682 GO:0003700 GO:0003723 GO:0005515 GO:0005634 GO:0005654 GO:0005737 GO:0005829 GO:0006325 GO:0006338 GO:0006351 GO:0006355 GO:0006357 GO:0006366 GO:0007010 GO:0007224 GO:0007399 GO:0007405 GO:0007406 GO:0007409 GO:0007411 GO:0007417 GO:0007420 GO:0007423 GO:0007435 GO:0007601 GO:0008283 GO:0009611 GO:0009653 GO:0009786 GO:0009887 GO:0009888 GO:0009950 GO:0009952 GO:0009953 GO:0010467 GO:0010468 GO:0010628 GO:0016020 GO:0019901 GO:0021517 GO:0021520 GO:0021521 GO:0021543 GO:0021778 GO:0021796 GO:0021798 GO:0021902 GO:0021905 GO:0021917 GO:0021978 GO:0021983 GO:0021986 GO:0021987 GO:0023019 GO:0030154 GO:0030182 GO:0030216 GO:0030334 GO:0030855 GO:0030858 GO:0030900 GO:0031490 GO:0031625 GO:0032808 GO:0035035 GO:0042462 GO:0042593 GO:0043010 GO:0043565 GO:0045165 GO:0045664 GO:0045665 GO:0045893 GO:0045944 GO:0048505 GO:0048513 GO:0048596 GO:0048663 GO:0048708 GO:0048731 GO:0048856 GO:0048870 GO:0050680 GO:0050767 GO:0050768 GO:0050877 GO:0060041 GO:0061072 GO:0061303 GO:0061351 GO:0070410 GO:0070412 GO:0071837 GO:1902895 GO:1990830 GO:1990837 GO:2000178 HMNXSV003051758 HMNXSV003058314 Hs.65264.0.A1_3p_at ILMN_1789905 ILMN_2314140 M93650_at PH_hs_0004989 TC11001528.hg g4505614_3p_s_at p27114
physicalEntity	[EntityWithAccessionedSequence:R-HSA-3009044] PAX6 [nucleoplasm] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000007372] ENSEMBL:ENSG00000007372 PAX6 [ReferenceDNASequence:12696895] UCSC:P26367 PAX6 [ReferenceDNASequence:12107645] OMIM:607108 PAX6 [ReferenceDNASequence:12066616] NCBI Gene:5080 PAX6 [ReferenceDNASequence:11982523] Monarch:5080 PAX6 [ReferenceDNASequence:11892414] KEGG:hsa:5080 PAX6 [ReferenceDNASequence:11816025] HGNC:8620 PAX6 [ReferenceDNASequence:11429953] dbSNP Gene:5080 PAX6 [ReferenceDNASequence:11408320] CTD Gene:5080 PAX6 [ReferenceDNASequence:11393927] COSMIC - genes:PAX6 PAX6 [ReferenceDNASequence:11352734] BioGPS Gene:5080 PAX6
referenceTranscript	[ReferenceRNASequence:12584379] RefSeq:NM_001368887.2 PAX6 [ReferenceRNASequence:12584382] RefSeq:NM_001368893.2 PAX6 [ReferenceRNASequence:12584383] RefSeq:NM_001258465.3 PAX6 [ReferenceRNASequence:12584386] RefSeq:NM_001604.5 PAX6 [ReferenceRNASequence:12584385] RefSeq:NM_001368888.2 PAX6 [ReferenceRNASequence:12584392] RefSeq:NM_001310159.1 PAX6 [ReferenceRNASequence:12584389] RefSeq:NM_001127612.3 PAX6 [ReferenceRNASequence:12584388] RefSeq:NM_000280.6 PAX6 [ReferenceRNASequence:12584390] RefSeq:NM_001368890.2 PAX6 [ReferenceRNASequence:12584387] RefSeq:NM_001368889.2 PAX6 [ReferenceRNASequence:12584384] RefSeq:NM_001368894.2 PAX6 [ReferenceRNASequence:12584391] RefSeq:NM_001310158.2 PAX6 [ReferenceRNASequence:12584378] RefSeq:NM_001310161.1 PAX6 [ReferenceRNASequence:12584375] RefSeq:NM_001258464.2 PAX6 [ReferenceRNASequence:12584377] RefSeq:NM_001258463.2 PAX6 [ReferenceRNASequence:12584376] RefSeq:NM_001258462.3 PAX6 [ReferenceRNASequence:12584381] RefSeq:NM_001368892.2 PAX6 [ReferenceRNASequence:12584380] RefSeq:NM_001368891.2 PAX6
schemaClass	ReferenceGeneProduct
secondaryIdentifier	PAX6_HUMAN Q6N006 Q99413
sequenceLength	422
species	[Species:48887] Homo sapiens
stId	uniprot:P26367
url	http://purl.uniprot.org/uniprot/P26367

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[EntityWithAccessionedSequence:R-HSA-3009044] PAX6 [nucleoplasm]

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