PAX2A_DANRE
ID PAX2A_DANRE Reviewed; 410 AA.
AC Q90268; Q9PWK8; Q9PWK9; Q9PWL0; Q9PWL1; Q9YGU5; Q9YGU6; Q9YGU7; Q9YGU8;
AC Q9YGU9; Q9YGV0;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 27-MAY-2002, sequence version 2.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Paired box protein Pax-2a;
DE AltName: Full=No isthmus protein;
DE AltName: Full=Pax[Zf-b];
GN Name=pax2a; Synonyms=noi, pax2.1, paxzf-b;
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] (ISOFORM 2).
RC STRAIN=NC-1; TISSUE=Embryo;
RX PubMed=1811936; DOI=10.1242/dev.113.4.1193;
RA Krauss S., Johansen T., Korzh V., Fjose A.;
RT "Expression of the zebrafish paired box gene pax[zf-b] during early
RT neurogenesis.";
RL Development 113:1193-1206(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, VARIANTS, AND FUNCTION.
RC STRAIN=Tuebingen; TISSUE=Embryo;
RX PubMed=9671579; DOI=10.1242/dev.125.16.3049;
RA Lun K., Brand M.;
RT "A series of no isthmus (noi) alleles of the zebrafish pax2.1 gene reveals
RT multiple signaling events in development of the midbrain-hindbrain
RT boundary.";
RL Development 125:3049-3062(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Kidney;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Probable transcription factor involved in the development of
CC the midbrain/hindbrain boundary (MHB) organizer and specification of
CC neuronal cell fates. Required for establishment of eng2 and eng3 gene
CC expression in the midbrain and MHB primordium during late gastrulation.
CC {ECO:0000269|PubMed:9671579}.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=12;
CC Comment=Additional isoforms seem to exist.;
CC Name=4;
CC IsoId=Q90268-1; Sequence=Displayed;
CC Name=1;
CC IsoId=Q90268-2; Sequence=VSP_002348;
CC Name=2;
CC IsoId=Q90268-3; Sequence=VSP_002348, VSP_002349;
CC Name=3;
CC IsoId=Q90268-4; Sequence=VSP_002352, VSP_002353;
CC Name=5;
CC IsoId=Q90268-5; Sequence=VSP_002348, VSP_002349, VSP_002351;
CC Name=6;
CC IsoId=Q90268-6; Sequence=VSP_002348, VSP_002350;
CC Name=7;
CC IsoId=Q90268-7; Sequence=VSP_002348, VSP_002352, VSP_002353;
CC Name=8;
CC IsoId=Q90268-8; Sequence=VSP_002354;
CC Name=9;
CC IsoId=Q90268-9; Sequence=VSP_002349, VSP_002354;
CC Name=10;
CC IsoId=Q90268-10; Sequence=VSP_002348, VSP_002349, VSP_002354;
CC Name=11;
CC IsoId=Q90268-11; Sequence=VSP_002348, VSP_002354;
CC Name=12;
CC IsoId=Q90268-12; Sequence=VSP_002349;
CC -!- TISSUE SPECIFICITY: Expressed during embryogenesis in the kidney, optic
CC stalk, midbrain, otic vesicle and a row of cells along the spinal cord
CC and the hindbrain.
CC -!- DEVELOPMENTAL STAGE: First seen during the formation of neural keel. At
CC 9-10 hours of development expression seen in two laterally located
CC transverse stripes of cells in the rostral 1/3 of the embryo, and the
CC two areas subsequently move towards the midline and form the posterior
CC portion of the midbrain. Detected in the otic placode, Wolffian duct
CC including the nephritic primordium and optic stalk at 10-12 hours. At
CC 14-15 hours expression seen in the single cells along the spinal cord,
CC presumably interneurons.
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DR EMBL; X63961; CAA45378.1; -; mRNA.
DR EMBL; AF067530; AAD19285.1; -; mRNA.
DR EMBL; AF067531; AAD19286.1; -; mRNA.
DR EMBL; AF067532; AAD19287.1; -; mRNA.
DR EMBL; AF067533; AAD19288.1; -; mRNA.
DR EMBL; AF067534; AAD19289.1; -; mRNA.
DR EMBL; AF067535; AAD19290.1; -; mRNA.
DR EMBL; AF067536; AAD19291.1; -; mRNA.
DR EMBL; AF067537; AAD19292.1; -; mRNA.
DR EMBL; AF067538; AAD19293.1; -; mRNA.
DR EMBL; AF067539; AAD19294.1; -; mRNA.
DR EMBL; AF067540; AAD19295.1; -; mRNA.
DR EMBL; AF067541; AAD19296.1; -; mRNA.
DR EMBL; BC066690; AAH66690.1; -; mRNA.
DR PIR; S23341; S23341.
DR RefSeq; NP_571259.1; NM_131184.2. [Q90268-3]
DR AlphaFoldDB; Q90268; -.
DR SMR; Q90268; -.
DR STRING; 7955.ENSDARP00000071460; -.
DR PaxDb; Q90268; -.
DR Ensembl; ENSDART00000076992; ENSDARP00000071460; ENSDARG00000028148. [Q90268-12]
DR Ensembl; ENSDART00000076998; ENSDARP00000071466; ENSDARG00000028148. [Q90268-3]
DR Ensembl; ENSDART00000134424; ENSDARP00000121417; ENSDARG00000028148. [Q90268-6]
DR GeneID; 30425; -.
DR KEGG; dre:30425; -.
DR CTD; 30425; -.
DR ZFIN; ZDB-GENE-990415-8; pax2a.
DR eggNOG; KOG3862; Eukaryota.
DR GeneTree; ENSGT00940000157412; -.
DR HOGENOM; CLU_019281_6_0_1; -.
DR InParanoid; Q90268; -.
DR OrthoDB; 592933at2759; -.
DR PhylomeDB; Q90268; -.
DR TreeFam; TF315397; -.
DR PRO; PR:Q90268; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 13.
DR Bgee; ENSDARG00000028148; Expressed in spinal cord and 152 other tissues.
DR ExpressionAtlas; Q90268; baseline.
DR GO; GO:0005634; C:nucleus; IDA:ZFIN.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; NAS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
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:0034672; P:anterior/posterior pattern specification involved in pronephros development; IGI:ZFIN.
DR GO; GO:0001708; P:cell fate specification; IMP:ZFIN.
DR GO; GO:0021549; P:cerebellum development; IMP:ZFIN.
DR GO; GO:0021588; P:cerebellum formation; IMP:ZFIN.
DR GO; GO:0060271; P:cilium assembly; IMP:ZFIN.
DR GO; GO:0048596; P:embryonic camera-type eye morphogenesis; IGI:ZFIN.
DR GO; GO:0009880; P:embryonic pattern specification; IMP:ZFIN.
DR GO; GO:0030902; P:hindbrain development; IMP:ZFIN.
DR GO; GO:0060113; P:inner ear receptor cell differentiation; IMP:ZFIN.
DR GO; GO:0001822; P:kidney development; IMP:ZFIN.
DR GO; GO:0021703; P:locus ceruleus development; IMP:ZFIN.
DR GO; GO:0030901; P:midbrain development; IMP:ZFIN.
DR GO; GO:0030917; P:midbrain-hindbrain boundary development; IMP:ZFIN.
DR GO; GO:0007399; P:nervous system development; IMP:UniProtKB.
DR GO; GO:0043049; P:otic placode formation; IMP:ZFIN.
DR GO; GO:0007422; P:peripheral nervous system development; IMP:ZFIN.
DR GO; GO:0035775; P:pronephric glomerulus morphogenesis; IMP:ZFIN.
DR GO; GO:0048793; P:pronephros development; IMP:ZFIN.
DR GO; GO:0072114; P:pronephros morphogenesis; IMP:ZFIN.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0030878; P:thyroid gland development; IMP:ZFIN.
DR GO; GO:0060118; P:vestibular receptor cell development; IMP:ZFIN.
DR CDD; cd00131; PAX; 1.
DR Gene3D; 1.10.10.10; -; 2.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR043182; PAIRED_DNA-bd_dom.
DR InterPro; IPR001523; Paired_dom.
DR InterPro; IPR022130; Pax2_C.
DR InterPro; IPR043565; PAX_fam.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR PANTHER; PTHR45636; PTHR45636; 2.
DR Pfam; PF00292; PAX; 1.
DR Pfam; PF12403; Pax2_C; 1.
DR PRINTS; PR00027; PAIREDBOX.
DR SMART; SM00351; PAX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00034; PAIRED_1; 1.
DR PROSITE; PS51057; PAIRED_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; Differentiation; DNA-binding;
KW Neurogenesis; Nucleus; Paired box; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..410
FT /note="Paired box protein Pax-2a"
FT /id="PRO_0000050177"
FT DNA_BIND 19..145
FT /note="Paired"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 22..78
FT /note="PAI subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 97..145
FT /note="RED subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 146..184
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 221..242
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 15..19
FT /note="LSHIG -> R (in isoform 1, isoform 2, isoform 5,
FT isoform 6, isoform 7, isoform 10 and isoform 11)"
FT /evidence="ECO:0000303|PubMed:1811936, ECO:0000303|Ref.3"
FT /id="VSP_002348"
FT VAR_SEQ 209..322
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000305"
FT /id="VSP_002350"
FT VAR_SEQ 209..224
FT /note="VLWSGNHLDGRKIGYH -> D (in isoform 2, isoform 5,
FT isoform 9, isoform 10 and isoform 12)"
FT /evidence="ECO:0000303|PubMed:1811936"
FT /id="VSP_002349"
FT VAR_SEQ 283..322
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000305"
FT /id="VSP_002351"
FT VAR_SEQ 323..334
FT /note="GREMASTTLPGY -> DKSAGSTVPAGH (in isoform 3 and
FT isoform 7)"
FT /evidence="ECO:0000305"
FT /id="VSP_002352"
FT VAR_SEQ 335..410
FT /note="Missing (in isoform 3 and isoform 7)"
FT /evidence="ECO:0000305"
FT /id="VSP_002353"
FT VAR_SEQ 386..410
FT /note="SSPYYYSAASRGSGPPTAATAYDRH -> MPHPGAPGLPLLPLPMTAT (in
FT isoform 8, isoform 9, isoform 10 and isoform 11)"
FT /evidence="ECO:0000305"
FT /id="VSP_002354"
FT VARIANT 74..79
FT /note="Missing (in allele TM243A; no midbrain/hindbrain
FT boundary)"
FT VARIANT 79
FT /note="G -> V (in allele TY31A; no midbrain/hindbrain
FT boundary)"
SQ SEQUENCE 410 AA; 44099 MW; 6BE302826C516FD7 CRC64;
MDIHCKADPF SAMHLSHIGH GGVNQLGGVF VNGRPLPDVV RQRIVELAHQ GVRPCDISRQ
LRVSHGCVSK ILGRYYETGS IKPGVIGGSK PKVATPKVVE KIAEYKRQNP TMFAWEIRDR
LLAEGVCDND TVPSVSSINR IIRTKVQQPF HPSSDGTGTP LSTAGHTIVP STASPPVSSA
SNDPVGSYSI NGILGIPRSN GEKRKRDDVL WSGNHLDGRK IGYHGSDGSG PNSDSQGSVE
SLRKHLRADA FTQQQLEALD RVFERPSYPD VFPTSEHIKP EQANEYSLPA LNPGLDEVKP
SLSTSVSSDL GSSVSQSYPV VTGREMASTT LPGYPPHVPP TGQGSYPTST LAGMVPGSDF
SGNPYSHPQY TTYNEAWRFS NPALLSSPYY YSAASRGSGP PTAATAYDRH
