ID   PAX1_MOUSE              Reviewed;         446 AA.
AC   P09084; A2ALJ9; Q9R2B1;
DT   01-NOV-1988, integrated into UniProtKB/Swiss-Prot.
DT   18-MAY-2010, sequence version 4.
DT   27-MAR-2024, entry version 182.
DE   RecName: Full=Paired box protein Pax-1;
GN   Name=Pax1; Synonyms=Pax-1;
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC   Murinae; Mus; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC   STRAIN=129/Sv;
RA   Egger C., Schorpp M., Boehm T.;
RT   "Evolutionary conservation of gene structure of the pax1/9 gene family.";
RL   Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=C57BL/6J;
RX   PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA   Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA   Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA   Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA   Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA   Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA   Eichler E.E., Ponting C.P.;
RT   "Lineage-specific biology revealed by a finished genome assembly of the
RT   mouse.";
RL   PLoS Biol. 7:E1000112-E1000112(2009).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 5-446.
RX   PubMed=1889089; DOI=10.1016/0092-8674(91)90434-z;
RA   Chalepakis G., Fritsch R., Fickenscher H., Deutsch U., Goulding M.D.,
RA   Gruss P.;
RT   "The molecular basis of the undulated/Pax-1 mutation.";
RL   Cell 66:873-884(1991).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 91-217.
RX   PubMed=2453291; DOI=10.1016/0092-8674(88)90577-6;
RA   Deutsch U., Dressler G.R., Gruss P.;
RT   "Pax 1, a member of a paired box homologous murine gene family, is
RT   expressed in segmented structures during development.";
RL   Cell 53:617-625(1988).
RN   [5]
RP   VARIANT UN SER-103.
RX   PubMed=3180219; DOI=10.1016/0092-8674(88)90039-6;
RA   Balling R., Dressler G.R., Gruss P.;
RT   "Undulated, a mutation affecting the development of the mouse skeleton, has
RT   a point mutation in the paired box of Pax 1.";
RL   Cell 55:531-535(1988).
CC   -!- FUNCTION: This protein is a transcriptional activator. It may play a
CC       role in the formation of segmented structures of the embryo. May play
CC       an important role in the normal development of the vertebral column.
CC   -!- SUBCELLULAR LOCATION: Nucleus.
CC   -!- DISEASE: Note=Undulated (un) homozygous mice exhibits vertebral
CC       malformations along the entire rostro-caudal axis. This is due to a
CC       single mutation in the paired box region. {ECO:0000269|PubMed:3180219}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAA37793.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC       Sequence=AAA39888.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AJ133503; CAB38370.1; -; Genomic_DNA.
DR   EMBL; AJ133504; CAB38370.1; JOINED; Genomic_DNA.
DR   EMBL; AJ133505; CAB38370.1; JOINED; Genomic_DNA.
DR   EMBL; AL805918; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; M69222; AAA39888.1; ALT_INIT; mRNA.
DR   EMBL; M20978; AAA37793.1; ALT_SEQ; Genomic_DNA.
DR   CCDS; CCDS16835.2; -.
DR   PIR; A29902; A29902.
DR   PIR; A40023; A40023.
DR   RefSeq; NP_032806.2; NM_008780.2.
DR   AlphaFoldDB; P09084; -.
DR   SMR; P09084; -.
DR   BioGRID; 202028; 2.
DR   STRING; 10090.ENSMUSP00000105594; -.
DR   PhosphoSitePlus; P09084; -.
DR   MaxQB; P09084; -.
DR   PaxDb; 10090-ENSMUSP00000105594; -.
DR   ProteomicsDB; 294162; -.
DR   Antibodypedia; 24834; 356 antibodies from 34 providers.
DR   DNASU; 18503; -.
DR   Ensembl; ENSMUST00000109968.3; ENSMUSP00000105594.3; ENSMUSG00000037034.17.
DR   GeneID; 18503; -.
DR   KEGG; mmu:18503; -.
DR   UCSC; uc008msx.2; mouse.
DR   AGR; MGI:97485; -.
DR   CTD; 5075; -.
DR   MGI; MGI:97485; Pax1.
DR   VEuPathDB; HostDB:ENSMUSG00000037034; -.
DR   eggNOG; KOG3517; Eukaryota.
DR   GeneTree; ENSGT00940000159137; -.
DR   HOGENOM; CLU_019281_3_0_1; -.
DR   InParanoid; P09084; -.
DR   OMA; MEHTYGE; -.
DR   OrthoDB; 5393942at2759; -.
DR   PhylomeDB; P09084; -.
DR   TreeFam; TF315397; -.
DR   BioGRID-ORCS; 18503; 1 hit in 78 CRISPR screens.
DR   PRO; PR:P09084; -.
DR   Proteomes; UP000000589; Chromosome 2.
DR   RNAct; P09084; Protein.
DR   Bgee; ENSMUSG00000037034; Expressed in postcranial axial skeleton and 104 other cell types or tissues.
DR   ExpressionAtlas; P09084; baseline and differential.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0005667; C:transcription regulator complex; TAS:MGI.
DR   GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR   GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:MGI.
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; IMP:NTNU_SB.
DR   GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR   GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR   GO; GO:0009887; P:animal organ morphogenesis; TAS:MGI.
DR   GO; GO:0060349; P:bone morphogenesis; IMP:MGI.
DR   GO; GO:0043367; P:CD4-positive, alpha-beta T cell differentiation; IMP:MGI.
DR   GO; GO:0043374; P:CD8-positive, alpha-beta T cell differentiation; IMP:MGI.
DR   GO; GO:0008283; P:cell population proliferation; IMP:MGI.
DR   GO; GO:0060017; P:parathyroid gland development; IGI:MGI.
DR   GO; GO:0007389; P:pattern specification process; IMP:MGI.
DR   GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR   GO; GO:0006355; P:regulation of DNA-templated transcription; TAS:MGI.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   GO; GO:0061056; P:sclerotome development; IEP:UniProtKB.
DR   GO; GO:0001501; P:skeletal system development; IMP:MGI.
DR   GO; GO:0001756; P:somitogenesis; IMP:MGI.
DR   GO; GO:0048538; P:thymus development; IGI:MGI.
DR   CDD; cd00131; PAX; 1.
DR   Gene3D; 1.10.10.10; Winged helix-like DNA-binding domain superfamily/Winged helix DNA-binding domain; 2.
DR   InterPro; IPR009057; Homeobox-like_sf.
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:SF15; PAIRED BOX PROTEIN PAX-1; 1.
DR   PANTHER; PTHR45636; PAIRED BOX PROTEIN PAX-6-RELATED-RELATED; 1.
DR   Pfam; PF00292; PAX; 1.
DR   PRINTS; PR00027; PAIREDBOX.
DR   SMART; SM00351; PAX; 1.
DR   SUPFAM; SSF46689; Homeodomain-like; 1.
DR   PROSITE; PS00034; PAIRED_1; 1.
DR   PROSITE; PS51057; PAIRED_2; 1.
DR   Genevisible; P09084; MM.
PE   1: Evidence at protein level;
KW   Activator; Developmental protein; Disease variant; DNA-binding; Nucleus;
KW   Paired box; Reference proteome; Transcription; Transcription regulation.
FT   CHAIN           1..446
FT                   /note="Paired box protein Pax-1"
FT                   /id="PRO_0000050173"
FT   DNA_BIND        89..215
FT                   /note="Paired"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT   REGION          92..148
FT                   /note="PAI subdomain"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT   REGION          167..215
FT                   /note="RED subdomain"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT   REGION          414..446
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         103
FT                   /note="G -> S (in un)"
FT                   /evidence="ECO:0000269|PubMed:3180219"
FT   CONFLICT        141
FT                   /note="I -> M (in Ref. 4; AAA37793)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        300
FT                   /note="A -> T (in Ref. 3; AAA39888)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        345
FT                   /note="S -> L (in Ref. 3; AAA39888)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        367
FT                   /note="H -> Q (in Ref. 3; AAA39888)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   446 AA;  46263 MW;  635FE7318A946D6C CRC64;
     MKFTLGLGSR AWRVSWERAA AAAAGPGAGG ALGSGSLRVS SRRGPRLARA LPLCLSGGGG
     ARALPDCAGP SPRRSGARQL AGPRAMEQTY GEVNQLGGVF VNGRPLPNAI RLRIVELAQL
     GIRPCDISRQ LRVSHGCVSK ILARYNETGS ILPGAIGGSK PRVTTPNVVK HIRDYKQGDP
     GIFAWEIRDR LLADGVCDKY NVPSVSSISR ILRNKIGSLA QPGPYEASKQ PPPQPALPYN
     HIYQYPYPSP VSPTGTKMGT HPGVPGSAGH VSIPRSWPSA HSVSNILGIR TFMEQTGALA
     GSEGAAYSPK MEDWAGVNRA AFPTSPAVNG LEKPALEADI KYTQSASSLS AVGGFLPACA
     YPASNQHGVY SAPAAGYLSP GPPWPPAQAP PLTPHGAGVA VHGGELAAAM TFKHREGTDR
     KPPSPGGKAT DALGSLHGLP IPASTS
//