ID PAX9_MOUSE Reviewed; 342 AA.
AC P47242;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1996, sequence version 1.
DT 27-MAR-2024, entry version 170.
DE RecName: Full=Paired box protein Pax-9;
GN Name=Pax9; Synonyms=Pax-9;
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 [MRNA].
RX PubMed=7649395; DOI=10.1006/dbio.1995.1248;
RA Neubuesser A., Koseki H., Balling R.;
RT "Characterization and developmental expression of Pax9, a paired-box-
RT containing gene related to Pax1.";
RL Dev. Biol. 170:701-716(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=FVB/N; TISSUE=Mammary gland;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 19-111.
RC STRAIN=C57BR/Y;
RX PubMed=8358169; DOI=10.1007/bf00360584;
RA Wallin J., Mizutani Y., Imai K., Miyashita N., Moriwaki K., Taniguchi M.,
RA Koseki H., Balling R.;
RT "A new Pax gene, Pax-9, maps to mouse chromosome 12.";
RL Mamm. Genome 4:354-358(1993).
RN [4]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=9732271; DOI=10.1101/gad.12.17.2735;
RA Peters H., Neubuser A., Kratochwil K., Balling R.;
RT "Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and
RT exhibit craniofacial and limb abnormalities.";
RL Genes Dev. 12:2735-2747(1998).
CC -!- FUNCTION: Transcription factor required for normal development of
CC thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal
CC elements of skull and larynx as well as distal limbs.
CC {ECO:0000269|PubMed:9732271}.
CC -!- SUBUNIT: Interacts with KDM5B. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: In the embryo, expressed in pharyngeal pouches and
CC derivatives, developing vertebral column, tail, head and limbs.
CC -!- DEVELOPMENTAL STAGE: In the embryo, expression increases slightly from
CC day 9.5 to day 11.5, remains almost constant until day 14.5 and then
CC decreases.
CC -!- DISRUPTION PHENOTYPE: Death shortly after birth. Mice lack thymus,
CC parathyroid glands, ultimobranchial bodies and teeth. They show
CC craniofacial and visceral malformations as well as malformations of
CC their distal limbs. {ECO:0000269|PubMed:9732271}.
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DR EMBL; X84000; CAA58824.1; -; mRNA.
DR EMBL; BC005794; AAH05794.1; -; mRNA.
DR EMBL; X73037; CAA51518.1; -; Genomic_DNA.
DR CCDS; CCDS25924.1; -.
DR PIR; I48740; S57652.
DR RefSeq; NP_035171.1; NM_011041.3.
DR RefSeq; XP_006515642.1; XM_006515579.3.
DR RefSeq; XP_006515643.1; XM_006515580.3.
DR RefSeq; XP_006515644.1; XM_006515581.3.
DR RefSeq; XP_017170480.1; XM_017314991.1.
DR AlphaFoldDB; P47242; -.
DR SMR; P47242; -.
DR BioGRID; 202036; 2.
DR IntAct; P47242; 4.
DR STRING; 10090.ENSMUSP00000117928; -.
DR iPTMnet; P47242; -.
DR PhosphoSitePlus; P47242; -.
DR PaxDb; 10090-ENSMUSP00000117928; -.
DR ProteomicsDB; 287785; -.
DR TopDownProteomics; P47242; -.
DR Antibodypedia; 9893; 340 antibodies from 36 providers.
DR DNASU; 18511; -.
DR Ensembl; ENSMUST00000001538.10; ENSMUSP00000001538.10; ENSMUSG00000001497.19.
DR Ensembl; ENSMUST00000153250.9; ENSMUSP00000117928.2; ENSMUSG00000001497.19.
DR GeneID; 18511; -.
DR KEGG; mmu:18511; -.
DR UCSC; uc007npi.1; mouse.
DR AGR; MGI:97493; -.
DR CTD; 5083; -.
DR MGI; MGI:97493; Pax9.
DR VEuPathDB; HostDB:ENSMUSG00000001497; -.
DR eggNOG; KOG3517; Eukaryota.
DR GeneTree; ENSGT00940000159896; -.
DR HOGENOM; CLU_019281_3_0_1; -.
DR InParanoid; P47242; -.
DR OMA; STMAPYP; -.
DR OrthoDB; 5393942at2759; -.
DR PhylomeDB; P47242; -.
DR TreeFam; TF315397; -.
DR BioGRID-ORCS; 18511; 2 hits in 79 CRISPR screens.
DR PRO; PR:P47242; -.
DR Proteomes; UP000000589; Chromosome 12.
DR RNAct; P47242; Protein.
DR Bgee; ENSMUSG00000001497; Expressed in parotid gland and 132 other cell types or tissues.
DR ExpressionAtlas; P47242; baseline and differential.
DR Genevisible; P47242; MM.
DR GO; GO:0005730; C:nucleolus; ISO:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
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; IBA:GO_Central.
DR GO; GO:0000977; F:RNA polymerase II transcription 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:0071363; P:cellular response to growth factor stimulus; IDA:MGI.
DR GO; GO:0007492; P:endoderm development; IMP:MGI.
DR GO; GO:0060325; P:face morphogenesis; IGI:MGI.
DR GO; GO:0045892; P:negative regulation of DNA-templated transcription; ISO:MGI.
DR GO; GO:0042476; P:odontogenesis; IGI: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:0042481; P:regulation of odontogenesis; IGI:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
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; PAIRED BOX PROTEIN PAX-6-RELATED-RELATED; 1.
DR PANTHER; PTHR45636:SF13; PAIRED BOX PROTEIN PAX-9; 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.
PE 2: Evidence at transcript level;
KW Developmental protein; DNA-binding; Nucleus; Paired box;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..342
FT /note="Paired box protein Pax-9"
FT /id="PRO_0000050208"
FT DNA_BIND 4..130
FT /note="Paired"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 7..63
FT /note="PAI subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 82..130
FT /note="RED subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 168..189
FT /note="Interaction with KDM5B"
FT /evidence="ECO:0000250"
SQ SEQUENCE 342 AA; 36389 MW; A4FB714FE541A96C CRC64;
MEPAFGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH GCVSKILARY
NETGSILPGA IGGSKPRVTT PTVVKHIRTY KQRDPGIFAW EIRDRLLADG VCDKYNVPSV
SSISRILRNK IGNLAQQGHY DSYKQHQPAP QPALPYNHIY SYPSPITAAA AKVPTPPGVP
AIPGSVALPR TWPSSHSVTD ILGIRSITDQ GVSDSSPYHS PKVEEWSSLG RNNFPAAAPH
AVNGLEKGAL EQEAKYGQAP NGLPAVSSFV SASSMAPYPT PAQVSPYMTY SAAPSGYVAG
HGWQHAGSTP LSPHNCDIPA SLAFKGMQAA REGSHSVTAS AL
//
