PAX6_DROME
ID PAX6_DROME Reviewed; 857 AA.
AC O18381; Q8ST91; Q8ST92; Q9V4F5;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2000, sequence version 3.
DT 03-AUG-2022, entry version 198.
DE RecName: Full=Paired box protein Pax-6;
DE AltName: Full=Protein eyeless;
GN Name=ey; Synonyms=pax6; ORFNames=CG1464;
OS Drosophila melanogaster (Fruit fly).
OC Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota;
OC Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea;
OC Drosophilidae; Drosophila; Sophophora.
OX NCBI_TaxID=7227;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM EMBRYONIC), NUCLEOTIDE SEQUENCE OF 1-56
RP (ISOFORM LARVAL), FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RC STRAIN=Oregon-R; TISSUE=Embryo, and Imaginal disk;
RX PubMed=7914031; DOI=10.1126/science.7914031;
RA Quiring R., Walldorf U., Kloter U., Gehring W.J.;
RT "Homology of the eyeless gene of Drosophila to the Small eye gene in mice
RT and Aniridia in humans.";
RL Science 265:785-789(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Berkeley;
RX PubMed=10731132; DOI=10.1126/science.287.5461.2185;
RA Adams M.D., Celniker S.E., Holt R.A., Evans C.A., Gocayne J.D.,
RA Amanatides P.G., Scherer S.E., Li P.W., Hoskins R.A., Galle R.F.,
RA George R.A., Lewis S.E., Richards S., Ashburner M., Henderson S.N.,
RA Sutton G.G., Wortman J.R., Yandell M.D., Zhang Q., Chen L.X., Brandon R.C.,
RA Rogers Y.-H.C., Blazej R.G., Champe M., Pfeiffer B.D., Wan K.H., Doyle C.,
RA Baxter E.G., Helt G., Nelson C.R., Miklos G.L.G., Abril J.F., Agbayani A.,
RA An H.-J., Andrews-Pfannkoch C., Baldwin D., Ballew R.M., Basu A.,
RA Baxendale J., Bayraktaroglu L., Beasley E.M., Beeson K.Y., Benos P.V.,
RA Berman B.P., Bhandari D., Bolshakov S., Borkova D., Botchan M.R., Bouck J.,
RA Brokstein P., Brottier P., Burtis K.C., Busam D.A., Butler H., Cadieu E.,
RA Center A., Chandra I., Cherry J.M., Cawley S., Dahlke C., Davenport L.B.,
RA Davies P., de Pablos B., Delcher A., Deng Z., Mays A.D., Dew I.,
RA Dietz S.M., Dodson K., Doup L.E., Downes M., Dugan-Rocha S., Dunkov B.C.,
RA Dunn P., Durbin K.J., Evangelista C.C., Ferraz C., Ferriera S.,
RA Fleischmann W., Fosler C., Gabrielian A.E., Garg N.S., Gelbart W.M.,
RA Glasser K., Glodek A., Gong F., Gorrell J.H., Gu Z., Guan P., Harris M.,
RA Harris N.L., Harvey D.A., Heiman T.J., Hernandez J.R., Houck J., Hostin D.,
RA Houston K.A., Howland T.J., Wei M.-H., Ibegwam C., Jalali M., Kalush F.,
RA Karpen G.H., Ke Z., Kennison J.A., Ketchum K.A., Kimmel B.E., Kodira C.D.,
RA Kraft C.L., Kravitz S., Kulp D., Lai Z., Lasko P., Lei Y., Levitsky A.A.,
RA Li J.H., Li Z., Liang Y., Lin X., Liu X., Mattei B., McIntosh T.C.,
RA McLeod M.P., McPherson D., Merkulov G., Milshina N.V., Mobarry C.,
RA Morris J., Moshrefi A., Mount S.M., Moy M., Murphy B., Murphy L.,
RA Muzny D.M., Nelson D.L., Nelson D.R., Nelson K.A., Nixon K., Nusskern D.R.,
RA Pacleb J.M., Palazzolo M., Pittman G.S., Pan S., Pollard J., Puri V.,
RA Reese M.G., Reinert K., Remington K., Saunders R.D.C., Scheeler F.,
RA Shen H., Shue B.C., Siden-Kiamos I., Simpson M., Skupski M.P., Smith T.J.,
RA Spier E., Spradling A.C., Stapleton M., Strong R., Sun E., Svirskas R.,
RA Tector C., Turner R., Venter E., Wang A.H., Wang X., Wang Z.-Y.,
RA Wassarman D.A., Weinstock G.M., Weissenbach J., Williams S.M., Woodage T.,
RA Worley K.C., Wu D., Yang S., Yao Q.A., Ye J., Yeh R.-F., Zaveri J.S.,
RA Zhan M., Zhang G., Zhao Q., Zheng L., Zheng X.H., Zhong F.N., Zhong W.,
RA Zhou X., Zhu S.C., Zhu X., Smith H.O., Gibbs R.A., Myers E.W., Rubin G.M.,
RA Venter J.C.;
RT "The genome sequence of Drosophila melanogaster.";
RL Science 287:2185-2195(2000).
RN [3]
RP GENOME REANNOTATION, AND ALTERNATIVE SPLICING.
RC STRAIN=Berkeley;
RX PubMed=12537572; DOI=10.1186/gb-2002-3-12-research0083;
RA Misra S., Crosby M.A., Mungall C.J., Matthews B.B., Campbell K.S.,
RA Hradecky P., Huang Y., Kaminker J.S., Millburn G.H., Prochnik S.E.,
RA Smith C.D., Tupy J.L., Whitfield E.J., Bayraktaroglu L., Berman B.P.,
RA Bettencourt B.R., Celniker S.E., de Grey A.D.N.J., Drysdale R.A.,
RA Harris N.L., Richter J., Russo S., Schroeder A.J., Shu S.Q., Stapleton M.,
RA Yamada C., Ashburner M., Gelbart W.M., Rubin G.M., Lewis S.E.;
RT "Annotation of the Drosophila melanogaster euchromatic genome: a systematic
RT review.";
RL Genome Biol. 3:RESEARCH0083.1-RESEARCH0083.22(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE OF 623-751.
RC STRAIN=253.27, 253.30, closs10, closs19, north7.13, Rio, south1.10, Y10,
RC ZH56, and ZW30;
RX PubMed=11778050; DOI=10.1126/science.1064521;
RA Wang W., Thornton K., Berry A., Long M.;
RT "Nucleotide variation along the Drosophila melanogaster fourth
RT chromosome.";
RL Science 295:134-137(2002).
CC -!- FUNCTION: Involved in eye morphogenesis. {ECO:0000269|PubMed:7914031}.
CC -!- INTERACTION:
CC O18381; P02833-1: Antp; NbExp=4; IntAct=EBI-232318, EBI-15726199;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108,
CC ECO:0000255|PROSITE-ProRule:PRU00381, ECO:0000269|PubMed:7914031}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=Larval;
CC IsoId=O18381-1; Sequence=Displayed;
CC Name=Embryonic; Synonyms=A;
CC IsoId=O18381-2; Sequence=VSP_002369;
CC Name=B;
CC IsoId=O18381-3; Sequence=VSP_002368;
CC -!- TISSUE SPECIFICITY: Expression is confined to the eye imaginal disks,
CC parts of the brain, the ventral ganglion and the salivary glands.
CC {ECO:0000269|PubMed:7914031}.
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
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DR EMBL; X79492; CAA56037.1; -; mRNA.
DR EMBL; X79493; CAA56038.1; -; mRNA.
DR EMBL; AE014135; AAF59318.1; -; Genomic_DNA.
DR EMBL; AE014135; AAN06513.1; -; Genomic_DNA.
DR EMBL; AF433696; AAM17959.1; -; Genomic_DNA.
DR EMBL; AF433697; AAM17960.1; -; Genomic_DNA.
DR EMBL; AF433698; AAM17961.1; -; Genomic_DNA.
DR EMBL; AF433699; AAM17962.1; -; Genomic_DNA.
DR EMBL; AF433700; AAM17963.1; -; Genomic_DNA.
DR EMBL; AF433701; AAM17964.1; -; Genomic_DNA.
DR EMBL; AF433702; AAM17965.1; -; Genomic_DNA.
DR EMBL; AF433703; AAM17966.1; -; Genomic_DNA.
DR EMBL; AF433704; AAM17967.1; -; Genomic_DNA.
DR EMBL; AF433705; AAM17968.1; -; Genomic_DNA.
DR PIR; I45557; I45557.
DR RefSeq; NP_524628.2; NM_079889.3. [O18381-2]
DR RefSeq; NP_726607.1; NM_166789.2. [O18381-3]
DR AlphaFoldDB; O18381; -.
DR SMR; O18381; -.
DR BioGRID; 68643; 59.
DR DIP; DIP-46285N; -.
DR IntAct; O18381; 28.
DR STRING; 7227.FBpp0099810; -.
DR PaxDb; O18381; -.
DR DNASU; 43812; -.
DR EnsemblMetazoa; FBtr0089235; FBpp0088299; FBgn0005558. [O18381-3]
DR EnsemblMetazoa; FBtr0089236; FBpp0088300; FBgn0005558. [O18381-2]
DR GeneID; 43812; -.
DR KEGG; dme:Dmel_CG1464; -.
DR UCSC; CG1464-RA; d. melanogaster. [O18381-1]
DR CTD; 43812; -.
DR FlyBase; FBgn0005558; ey.
DR VEuPathDB; VectorBase:FBgn0005558; -.
DR eggNOG; KOG0849; Eukaryota.
DR HOGENOM; CLU_019281_7_0_1; -.
DR InParanoid; O18381; -.
DR PhylomeDB; O18381; -.
DR Reactome; R-DME-8939245; RUNX1 regulates transcription of genes involved in BCR signaling.
DR SignaLink; O18381; -.
DR BioGRID-ORCS; 43812; 0 hits in 3 CRISPR screens.
DR GenomeRNAi; 43812; -.
DR PRO; PR:O18381; -.
DR Proteomes; UP000000803; Chromosome 4.
DR Bgee; FBgn0005558; Expressed in labral segment and 29 other tissues.
DR ExpressionAtlas; O18381; baseline and differential.
DR Genevisible; O18381; DM.
DR GO; GO:0005634; C:nucleus; TAS:FlyBase.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:FlyBase.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:FlyBase.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:FlyBase.
DR GO; GO:0043565; F:sequence-specific DNA binding; IMP:FlyBase.
DR GO; GO:0007628; P:adult walking behavior; IMP:FlyBase.
DR GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR GO; GO:0007420; P:brain development; IMP:FlyBase.
DR GO; GO:0048854; P:brain morphogenesis; IMP:FlyBase.
DR GO; GO:0048036; P:central complex development; IMP:FlyBase.
DR GO; GO:0048749; P:compound eye development; IMP:FlyBase.
DR GO; GO:0001745; P:compound eye morphogenesis; IMP:FlyBase.
DR GO; GO:0007455; P:eye-antennal disc morphogenesis; TAS:FlyBase.
DR GO; GO:0008347; P:glial cell migration; IMP:FlyBase.
DR GO; GO:0042593; P:glucose homeostasis; IMP:FlyBase.
DR GO; GO:0016319; P:mushroom body development; IMP:FlyBase.
DR GO; GO:0030182; P:neuron differentiation; IMP:FlyBase.
DR GO; GO:0043704; P:photoreceptor cell fate specification; IMP:FlyBase.
DR GO; GO:0030307; P:positive regulation of cell growth; IMP:FlyBase.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IMP:FlyBase.
DR GO; GO:0040018; P:positive regulation of multicellular organism growth; IMP:FlyBase.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:FlyBase.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:FlyBase.
DR GO; GO:0043567; P:regulation of insulin-like growth factor receptor signaling pathway; IMP:FlyBase.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IMP:FlyBase.
DR CDD; cd00086; homeodomain; 1.
DR CDD; cd00131; PAX; 1.
DR Gene3D; 1.10.10.10; -; 2.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR043182; PAIRED_DNA-bd_dom.
DR InterPro; IPR001523; Paired_dom.
DR InterPro; IPR043565; PAX_fam.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR PANTHER; PTHR45636; PTHR45636; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF00292; PAX; 1.
DR PRINTS; PR00027; PAIREDBOX.
DR SMART; SM00389; HOX; 1.
DR SMART; SM00351; PAX; 1.
DR SUPFAM; SSF46689; SSF46689; 2.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS00034; PAIRED_1; 1.
DR PROSITE; PS51057; PAIRED_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; DNA-binding; Homeobox;
KW Nucleus; Paired box; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..857
FT /note="Paired box protein Pax-6"
FT /id="PRO_0000050193"
FT DNA_BIND 56..182
FT /note="Paired"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT DNA_BIND 430..489
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 59..115
FT /note="PAI subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 134..182
FT /note="RED subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 236..257
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 271..322
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 392..417
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 488..519
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 554..588
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 236..256
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 291..322
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 400..417
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 496..519
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 554..586
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..233
FT /note="Missing (in isoform B)"
FT /evidence="ECO:0000305"
FT /id="VSP_002368"
FT VAR_SEQ 1..56
FT /note="MRNLPCLGTAGGSGLGGIAGKPSPTMEAVEASTASHRHSTSSYFATTYYHLT
FT DDEC -> MFTLQPTPTAIGTVVPPWSAGTLIERLPSLEDMAHKG (in isoform
FT Embryonic)"
FT /evidence="ECO:0000303|PubMed:7914031"
FT /id="VSP_002369"
FT VARIANT 641
FT /note="A -> T (in strain: 253.27 and closs19)"
FT VARIANT 697
FT /note="T -> S (in strain: 253.27 and closs19)"
FT CONFLICT 249
FT /note="S -> T (in Ref. 1; CAA56038)"
FT /evidence="ECO:0000305"
FT CONFLICT 367
FT /note="E -> K (in Ref. 1; CAA56038)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 857 AA; 89492 MW; 8EC3BA2F4C066269 CRC64;
MRNLPCLGTA GGSGLGGIAG KPSPTMEAVE ASTASHRHST SSYFATTYYH LTDDECHSGV
NQLGGVFVGG RPLPDSTRQK IVELAHSGAR PCDISRILQV SNGCVSKILG RYYETGSIRP
RAIGGSKPRV ATAEVVSKIS QYKRECPSIF AWEIRDRLLQ ENVCTNDNIP SVSSINRVLR
NLAAQKEQQS TGSGSSSTSA GNSISAKVSV SIGGNVSNVA SGSRGTLSSS TDLMQTATPL
NSSESGGASN SGEGSEQEAI YEKLRLLNTQ HAAGPGPLEP ARAAPLVGQS PNHLGTRSSH
PQLVHGNHQA LQQHQQQSWP PRHYSGSWYP TSLSEIPISS APNIASVTAY ASGPSLAHSL
SPPNDIESLA SIGHQRNCPV ATEDIHLKKE LDGHQSDETG SGEGENSNGG ASNIGNTEDD
QARLILKRKL QRNRTSFTND QIDSLEKEFE RTHYPDVFAR ERLAGKIGLP EARIQVWFSN
RRAKWRREEK LRNQRRTPNS TGASATSSST SATASLTDSP NSLSACSSLL SGSAGGPSVS
TINGLSSPST LSTNVNAPTL GAGIDSSESP TPIPHIRPSC TSDNDNGRQS EDCRRVCSPC
PLGVGGHQNT HHIQSNGHAQ GHALVPAISP RLNFNSGSFG AMYSNMHHTA LSMSDSYGAV
TPIPSFNHSA VGPLAPPSPI PQQGDLTPSS LYPCHMTLRP PPMAPAHHHI VPGDGGRPAG
VGLGSGQSAN LGASCSGSGY EVLSAYALPP PPMASSSAAD SSFSAASSAS ANVTPHHTIA
QESCPSPCSS ASHFGVAHSS GFSSDPISPA VSSYAHMSYN YASSANTMTP SSASGTSAHV
APGKQQFFAS CFYSPWV
