PAX1_MOUSE
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 03-AUG-2022, entry version 173.
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; P09084; -.
DR PRIDE; P09084; -.
DR ProteomicsDB; 294162; -.
DR Antibodypedia; 24834; 319 antibodies from 34 providers.
DR DNASU; 18503; -.
DR Ensembl; ENSMUST00000109968; ENSMUSP00000105594; ENSMUSG00000037034.
DR GeneID; 18503; -.
DR KEGG; mmu:18503; -.
DR UCSC; uc008msx.2; mouse.
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; PWANPPG; -.
DR OrthoDB; 1339212at2759; -.
DR PhylomeDB; P09084; -.
DR TreeFam; TF315397; -.
DR BioGRID-ORCS; 18503; 1 hit in 73 CRISPR screens.
DR PRO; PR:P09084; -.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; P09084; protein.
DR Bgee; ENSMUSG00000037034; Expressed in postcranial axial skeleton and 103 other tissues.
DR ExpressionAtlas; P09084; baseline and differential.
DR Genevisible; P09084; MM.
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:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; TAS:MGI.
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; -; 2.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR043182; PAIRED_DNA-bd_dom.
DR InterPro; IPR001523; Paired_dom.
DR InterPro; IPR033206; PAX1.
DR InterPro; IPR043565; PAX_fam.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR PANTHER; PTHR45636; PTHR45636; 1.
DR PANTHER; PTHR45636:SF15; PTHR45636:SF15; 1.
DR Pfam; PF00292; PAX; 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 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
