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Paired box protein Pax-6 (Protein eyeless)

 PAX6_DROME              Reviewed;         857 AA.
O18381; Q8ST91; Q8ST92; Q9V4F5;
01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
01-DEC-2000, sequence version 3.
22-NOV-2017, entry version 172.
RecName: Full=Paired box protein Pax-6;
AltName: Full=Protein eyeless;
Name=ey; Synonyms=pax6; ORFNames=CG1464;
Drosophila melanogaster (Fruit fly).
Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta;
Pterygota; Neoptera; Holometabola; Diptera; Brachycera; Muscomorpha;
Ephydroidea; Drosophilidae; Drosophila; Sophophora.
NCBI_TaxID=7227;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM EMBRYONIC), NUCLEOTIDE SEQUENCE OF
1-56 (ISOFORM LARVAL), FUNCTION, SUBCELLULAR LOCATION, AND TISSUE
SPECIFICITY.
STRAIN=Oregon-R; TISSUE=Embryo, and Imaginal disk;
PubMed=7914031; DOI=10.1126/science.7914031;
Quiring R., Walldorf U., Kloter U., Gehring W.J.;
"Homology of the eyeless gene of Drosophila to the Small eye gene in
mice and Aniridia in humans.";
Science 265:785-789(1994).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=Berkeley;
PubMed=10731132; DOI=10.1126/science.287.5461.2185;
Adams M.D., Celniker S.E., Holt R.A., Evans C.A., Gocayne J.D.,
Amanatides P.G., Scherer S.E., Li P.W., Hoskins R.A., Galle R.F.,
George R.A., Lewis S.E., Richards S., Ashburner M., Henderson S.N.,
Sutton G.G., Wortman J.R., Yandell M.D., Zhang Q., Chen L.X.,
Brandon R.C., Rogers Y.-H.C., Blazej R.G., Champe M., Pfeiffer B.D.,
Wan K.H., Doyle C., Baxter E.G., Helt G., Nelson C.R., Miklos G.L.G.,
Abril J.F., Agbayani A., An H.-J., Andrews-Pfannkoch C., Baldwin D.,
Ballew R.M., Basu A., Baxendale J., Bayraktaroglu L., Beasley E.M.,
Beeson K.Y., Benos P.V., Berman B.P., Bhandari D., Bolshakov S.,
Borkova D., Botchan M.R., Bouck J., Brokstein P., Brottier P.,
Burtis K.C., Busam D.A., Butler H., Cadieu E., Center A., Chandra I.,
Cherry J.M., Cawley S., Dahlke C., Davenport L.B., Davies P.,
de Pablos B., Delcher A., Deng Z., Mays A.D., Dew I., Dietz S.M.,
Dodson K., Doup L.E., Downes M., Dugan-Rocha S., Dunkov B.C., Dunn P.,
Durbin K.J., Evangelista C.C., Ferraz C., Ferriera S., Fleischmann W.,
Fosler C., Gabrielian A.E., Garg N.S., Gelbart W.M., Glasser K.,
Glodek A., Gong F., Gorrell J.H., Gu Z., Guan P., Harris M.,
Harris N.L., Harvey D.A., Heiman T.J., Hernandez J.R., Houck J.,
Hostin D., Houston K.A., Howland T.J., Wei M.-H., Ibegwam C.,
Jalali M., Kalush F., Karpen G.H., Ke Z., Kennison J.A., Ketchum K.A.,
Kimmel B.E., Kodira C.D., Kraft C.L., Kravitz S., Kulp D., Lai Z.,
Lasko P., Lei Y., Levitsky A.A., Li J.H., Li Z., Liang Y., Lin X.,
Liu X., Mattei B., McIntosh T.C., McLeod M.P., McPherson D.,
Merkulov G., Milshina N.V., Mobarry C., Morris J., Moshrefi A.,
Mount S.M., Moy M., Murphy B., Murphy L., Muzny D.M., Nelson D.L.,
Nelson D.R., Nelson K.A., Nixon K., Nusskern D.R., Pacleb J.M.,
Palazzolo M., Pittman G.S., Pan S., Pollard J., Puri V., Reese M.G.,
Reinert K., Remington K., Saunders R.D.C., Scheeler F., Shen H.,
Shue B.C., Siden-Kiamos I., Simpson M., Skupski M.P., Smith T.J.,
Spier E., Spradling A.C., Stapleton M., Strong R., Sun E.,
Svirskas R., Tector C., Turner R., Venter E., Wang A.H., Wang X.,
Wang Z.-Y., Wassarman D.A., Weinstock G.M., Weissenbach J.,
Williams S.M., Woodage T., Worley K.C., Wu D., Yang S., Yao Q.A.,
Ye J., Yeh R.-F., Zaveri J.S., Zhan M., Zhang G., Zhao Q., Zheng L.,
Zheng X.H., Zhong F.N., Zhong W., Zhou X., Zhu S.C., Zhu X.,
Smith H.O., Gibbs R.A., Myers E.W., Rubin G.M., Venter J.C.;
"The genome sequence of Drosophila melanogaster.";
Science 287:2185-2195(2000).
[3]
GENOME REANNOTATION, AND ALTERNATIVE SPLICING.
STRAIN=Berkeley;
PubMed=12537572; DOI=10.1186/gb-2002-3-12-research0083;
Misra S., Crosby M.A., Mungall C.J., Matthews B.B., Campbell K.S.,
Hradecky P., Huang Y., Kaminker J.S., Millburn G.H., Prochnik S.E.,
Smith C.D., Tupy J.L., Whitfield E.J., Bayraktaroglu L., Berman B.P.,
Bettencourt B.R., Celniker S.E., de Grey A.D.N.J., Drysdale R.A.,
Harris N.L., Richter J., Russo S., Schroeder A.J., Shu S.Q.,
Stapleton M., Yamada C., Ashburner M., Gelbart W.M., Rubin G.M.,
Lewis S.E.;
"Annotation of the Drosophila melanogaster euchromatic genome: a
systematic review.";
Genome Biol. 3:RESEARCH0083.1-RESEARCH0083.22(2002).
[4]
NUCLEOTIDE SEQUENCE OF 623-751.
STRAIN=253.27, 253.30, closs10, closs19, north7.13, Rio, south1.10,
Y10, ZH56, and ZW30;
PubMed=11778050; DOI=10.1126/science.1064521;
Wang W., Thornton K., Berry A., Long M.;
"Nucleotide variation along the Drosophila melanogaster fourth
chromosome.";
Science 295:134-137(2002).
-!- FUNCTION: Involved in eye morphogenesis.
{ECO:0000269|PubMed:7914031}.
-!- INTERACTION:
P02833-1:Antp; NbExp=4; IntAct=EBI-232318, EBI-15726199;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00381,
ECO:0000269|PubMed:7914031}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=Larval;
IsoId=O18381-1; Sequence=Displayed;
Name=Embryonic; Synonyms=A;
IsoId=O18381-2; Sequence=VSP_002369;
Name=B;
IsoId=O18381-3; Sequence=VSP_002368;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Expression is confined to the eye imaginal
disks, parts of the brain, the ventral ganglion and the salivary
glands. {ECO:0000269|PubMed:7914031}.
-!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; X79492; CAA56037.1; -; mRNA.
EMBL; X79493; CAA56038.1; -; mRNA.
EMBL; AE014135; AAF59318.1; -; Genomic_DNA.
EMBL; AE014135; AAN06513.1; -; Genomic_DNA.
EMBL; AF433696; AAM17959.1; -; Genomic_DNA.
EMBL; AF433697; AAM17960.1; -; Genomic_DNA.
EMBL; AF433698; AAM17961.1; -; Genomic_DNA.
EMBL; AF433699; AAM17962.1; -; Genomic_DNA.
EMBL; AF433700; AAM17963.1; -; Genomic_DNA.
EMBL; AF433701; AAM17964.1; -; Genomic_DNA.
EMBL; AF433702; AAM17965.1; -; Genomic_DNA.
EMBL; AF433703; AAM17966.1; -; Genomic_DNA.
EMBL; AF433704; AAM17967.1; -; Genomic_DNA.
EMBL; AF433705; AAM17968.1; -; Genomic_DNA.
PIR; I45557; I45557.
RefSeq; NP_524628.2; NM_079889.3. [O18381-2]
RefSeq; NP_726607.1; NM_166789.2. [O18381-3]
UniGene; Dm.6503; -.
ProteinModelPortal; O18381; -.
SMR; O18381; -.
BioGrid; 68643; 51.
DIP; DIP-46285N; -.
IntAct; O18381; 14.
MINT; MINT-320712; -.
STRING; 7227.FBpp0099810; -.
PaxDb; O18381; -.
PRIDE; O18381; -.
EnsemblMetazoa; FBtr0089235; FBpp0088299; FBgn0005558. [O18381-3]
EnsemblMetazoa; FBtr0089236; FBpp0088300; FBgn0005558. [O18381-2]
GeneID; 43812; -.
KEGG; dme:Dmel_CG1464; -.
UCSC; CG1464-RA; d. melanogaster. [O18381-1]
CTD; 43812; -.
FlyBase; FBgn0005558; ey.
eggNOG; KOG0849; Eukaryota.
eggNOG; ENOG410XS01; LUCA.
InParanoid; O18381; -.
OrthoDB; EOG091G0S4E; -.
PhylomeDB; O18381; -.
SignaLink; O18381; -.
GenomeRNAi; 43812; -.
PRO; PR:O18381; -.
Proteomes; UP000000803; Chromosome 4.
Bgee; FBgn0005558; -.
ExpressionAtlas; O18381; differential.
Genevisible; O18381; DM.
GO; GO:0005634; C:nucleus; TAS:FlyBase.
GO; GO:0000977; F:RNA polymerase II regulatory region sequence-specific DNA binding; IDA:FlyBase.
GO; GO:0043565; F:sequence-specific DNA binding; IMP:FlyBase.
GO; GO:0003705; F:transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; IDA:FlyBase.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; TAS:FlyBase.
GO; GO:0007628; P:adult walking behavior; IMP:FlyBase.
GO; GO:0007420; P:brain development; IMP:FlyBase.
GO; GO:0048854; P:brain morphogenesis; IMP:FlyBase.
GO; GO:0048036; P:central complex development; IMP:FlyBase.
GO; GO:0048749; P:compound eye development; IMP:FlyBase.
GO; GO:0001745; P:compound eye morphogenesis; IMP:FlyBase.
GO; GO:0007455; P:eye-antennal disc morphogenesis; TAS:FlyBase.
GO; GO:0008347; P:glial cell migration; IMP:FlyBase.
GO; GO:0016319; P:mushroom body development; IMP:FlyBase.
GO; GO:0030182; P:neuron differentiation; IMP:FlyBase.
GO; GO:0043704; P:photoreceptor cell fate specification; IMP:FlyBase.
GO; GO:0030307; P:positive regulation of cell growth; IMP:FlyBase.
GO; GO:0008284; P:positive regulation of cell proliferation; IMP:FlyBase.
GO; GO:0040018; P:positive regulation of multicellular organism growth; IMP:FlyBase.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:FlyBase.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:FlyBase.
GO; GO:0010906; P:regulation of glucose metabolic process; IMP:FlyBase.
GO; GO:0043567; P:regulation of insulin-like growth factor receptor signaling pathway; IMP:FlyBase.
GO; GO:0006357; P:regulation of transcription from RNA polymerase II promoter; IMP:FlyBase.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
CDD; cd00086; homeodomain; 1.
CDD; cd00131; PAX; 1.
Gene3D; 1.10.10.10; -; 2.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR001523; Paired_dom.
InterPro; IPR036388; WH-like_DNA-bd_sf.
Pfam; PF00046; Homeobox; 1.
Pfam; PF00292; PAX; 1.
PRINTS; PR00027; PAIREDBOX.
SMART; SM00389; HOX; 1.
SMART; SM00351; PAX; 1.
SUPFAM; SSF46689; SSF46689; 2.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
PROSITE; PS00034; PAIRED_1; 1.
PROSITE; PS51057; PAIRED_2; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Developmental protein;
DNA-binding; Homeobox; Nucleus; Paired box; Polymorphism;
Reference proteome; Transcription; Transcription regulation.
CHAIN 1 857 Paired box protein Pax-6.
/FTId=PRO_0000050193.
DOMAIN 56 182 Paired. {ECO:0000255|PROSITE-
ProRule:PRU00381}.
DNA_BIND 430 489 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
VAR_SEQ 1 233 Missing (in isoform B). {ECO:0000305}.
/FTId=VSP_002368.
VAR_SEQ 1 56 MRNLPCLGTAGGSGLGGIAGKPSPTMEAVEASTASHRHSTS
SYFATTYYHLTDDEC -> MFTLQPTPTAIGTVVPPWSAGT
LIERLPSLEDMAHKG (in isoform Embryonic).
{ECO:0000303|PubMed:7914031}.
/FTId=VSP_002369.
VARIANT 641 641 A -> T (in strain: 253.27 and closs19).
VARIANT 697 697 T -> S (in strain: 253.27 and closs19).
CONFLICT 249 249 S -> T (in Ref. 1; CAA56038).
{ECO:0000305}.
CONFLICT 367 367 E -> K (in Ref. 1; CAA56038).
{ECO:0000305}.
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


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