PAX6_DANRE
ID PAX6_DANRE Reviewed; 437 AA.
AC P26630; A2AUN5;
DT 01-AUG-1992, integrated into UniProtKB/Swiss-Prot.
DT 01-AUG-1992, sequence version 1.
DT 03-AUG-2022, entry version 180.
DE RecName: Full=Paired box protein Pax-6;
DE AltName: Full=Pax[Zf-a];
GN Name=pax6a; Synonyms=pax[zf-a], paxzf-a; ORFNames=si:dkeyp-46c10.1;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=1718739; DOI=10.1002/j.1460-2075.1991.tb04927.x;
RA Krauss S., Johansen T., Korzh V., Moens U., Ericson J.U., Fjose A.;
RT "Zebrafish pax[zf-a]: a paired box-containing gene expressed in the neural
RT tube.";
RL EMBO J. 10:3609-3619(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Embryo;
RX PubMed=1680220; DOI=10.1038/353267a0;
RA Krauss S., Johanson T., Korzh V., Fjose A.;
RT "Expression pattern of zebrafish pax genes suggests a role in early brain
RT regionalization.";
RL Nature 353:267-270(1991).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=1352238; DOI=10.1242/dev.114.3.643;
RA Pueschel A.W.P., Gruss P., Westerfield M.;
RT "Sequence and expression pattern of pax-6 are highly conserved between
RT zebrafish and mice.";
RL Development 114:643-651(1992).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Embryo;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Transcription factor expressed in spatially restricted
CC regions of the neural tube during embryonic development.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=Short;
CC IsoId=P26630-1; Sequence=Displayed;
CC Name=Long;
CC IsoId=P26630-2; Sequence=VSP_002367;
CC -!- TISSUE SPECIFICITY: Spatially restricted regions of the neural tube.
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
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DR EMBL; X61389; CAA43661.1; -; mRNA.
DR EMBL; X63183; CAA44867.1; -; mRNA.
DR EMBL; AL929172; CAM16649.1; -; Genomic_DNA.
DR EMBL; BC066722; AAH66722.1; -; mRNA.
DR PIR; I50108; I50108.
DR RefSeq; NP_571379.1; NM_131304.1. [P26630-2]
DR RefSeq; XP_009296158.1; XM_009297883.2. [P26630-1]
DR RefSeq; XP_017209537.1; XM_017354048.1. [P26630-2]
DR AlphaFoldDB; P26630; -.
DR BMRB; P26630; -.
DR SMR; P26630; -.
DR ELM; P26630; -.
DR STRING; 7955.ENSDARP00000106729; -.
DR PaxDb; P26630; -.
DR Ensembl; ENSDART00000162485; ENSDARP00000139430; ENSDARG00000103379. [P26630-1]
DR Ensembl; ENSDART00000164384; ENSDARP00000135767; ENSDARG00000103379. [P26630-2]
DR GeneID; 30567; -.
DR KEGG; dre:30567; -.
DR CTD; 30567; -.
DR ZFIN; ZDB-GENE-990415-200; pax6a.
DR eggNOG; KOG0849; Eukaryota.
DR GeneTree; ENSGT00940000155391; -.
DR InParanoid; P26630; -.
DR OrthoDB; 1152885at2759; -.
DR PhylomeDB; P26630; -.
DR PRO; PR:P26630; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 25.
DR Bgee; ENSDARG00000103379; Expressed in immature eye and 68 other tissues.
DR ExpressionAtlas; P26630; baseline and differential.
DR GO; GO:0005634; C:nucleus; IDA:ZFIN.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:ZFIN.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:ZFIN.
DR GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IMP:ZFIN.
DR GO; GO:0021538; P:epithalamus development; IGI:ZFIN.
DR GO; GO:0030900; P:forebrain development; IGI:ZFIN.
DR GO; GO:0021986; P:habenula development; IMP:ZFIN.
DR GO; GO:0030902; P:hindbrain development; IMP:ZFIN.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IMP:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:ZFIN.
DR GO; GO:0010468; P:regulation of gene expression; IGI:ZFIN.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0042670; P:retinal cone cell differentiation; IMP:UniProtKB.
DR GO; GO:0060221; P:retinal rod cell differentiation; IMP:UniProtKB.
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 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; DNA-binding; Homeobox;
KW Nucleus; Paired box; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..437
FT /note="Paired box protein Pax-6"
FT /id="PRO_0000050191"
FT DNA_BIND 23..149
FT /note="Paired"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT DNA_BIND 229..288
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 26..82
FT /note="PAI subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 101..149
FT /note="RED subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 174..222
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 286..317
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 186..218
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 295..317
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 66
FT /note="Q -> QTHADAKVQVLDNEN (in isoform Long)"
FT /evidence="ECO:0000305"
FT /id="VSP_002367"
SQ SEQUENCE 437 AA; 48425 MW; 01D0999EFCA22837 CRC64;
MPQKEYYNRA TWESGVASMM QNSHSGVNQL GGVFVNGRPL PDSTRQKIVE LAHSGARPCD
ISRILQVSNG CVSKILGRYY ETGSIRPRAI GGSKPRVATP EVVGKIAQYK RECPSIFAWE
IRDRLLSEGV CTNDNIPSVS SINRVLRNLA SEKQQMGADG MYEKLRMLNG QTGTWGTRPG
WYPGTSVPGQ PNQDGCQQSD GGGENTNSIS SNGEDSDETQ MRLQLKRKLQ RNRTSFTQEQ
IEALEKEFER THYPDVFARE RLAAKIDLPE ARIQVWFSNR RAKWRREEKL RNQRRQASNS
SSHIPISSSF STSVYQPIPQ PTTPVSFTSG SMLGRSDTAL TNTYSALPPM PSFTMANNLP
MQPSQTSSYS CMLPTSPSVN GRSYDTYTPP HMQAHMNSQS MAASGTTSTG LISPGVSVPV
QVPGSEPDMS QYWPRLQ
