ID   PAX9_HUMAN              Reviewed;         341 AA.
AC   P55771; Q99582; Q9UQR4;
DT   01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT   30-MAY-2000, sequence version 3.
DT   27-MAR-2024, entry version 194.
DE   RecName: Full=Paired box protein Pax-9;
GN   Name=PAX9;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   PubMed=10899593; DOI=10.1016/s0167-4781(00)00130-5;
RA   Hetzer-Egger C., Schorpp M., Boehm T.;
RT   "Evolutionary conservation of gene structures of the Pax1/9 gene family.";
RL   Biochim. Biophys. Acta 1492:517-521(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Lung;
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 1-211.
RX   PubMed=7981748; DOI=10.1038/ng0493-292;
RA   Stapleton P., Weith A., Urbanek P., Kozmik Z., Busslinger M.;
RT   "Chromosomal localization of seven PAX genes and cloning of a novel family
RT   member, PAX-9.";
RL   Nat. Genet. 3:292-298(1993).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 9-339.
RC   TISSUE=Esophagus;
RX   PubMed=9021154; DOI=10.1007/s003359900351;
RA   Peters H., Schuster G., Neubueser A., Richter T., Hoefler H.;
RT   "Isolation of the Pax9 cDNA from adult human esophagus.";
RL   Mamm. Genome 8:62-64(1997).
RN   [5]
RP   INTERACTION WITH KDM5B, MUTAGENESIS OF 173-VAL-PRO-174; 179-VAL-PRO-180 AND
RP   PRO-189, AND FUNCTION.
RX   PubMed=12657635; DOI=10.1074/jbc.m301994200;
RA   Tan K., Shaw A.L., Madsen B., Jensen K., Taylor-Papadimitriou J.,
RA   Freemont P.S.;
RT   "Human PLU-1 has transcriptional repression properties and interacts with
RT   the developmental transcription factors BF-1 and PAX9.";
RL   J. Biol. Chem. 278:20507-20513(2003).
RN   [6]
RP   VARIANT STHAG3 SER-51.
RX   PubMed=12786960; DOI=10.1034/j.1600-0722.2003.00036.x;
RA   Mostowska A., Kobielak A., Biedziak B., Trzeciak W.H.;
RT   "Novel mutation in the paired box sequence of PAX9 gene in a sporadic form
RT   of oligodontia.";
RL   Eur. J. Oral Sci. 111:272-276(2003).
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. {ECO:0000250,
CC       ECO:0000269|PubMed:12657635}.
CC   -!- SUBUNIT: Interacts with KDM5B. {ECO:0000269|PubMed:12657635}.
CC   -!- INTERACTION:
CC       P55771; O00167-2: EYA2; NbExp=3; IntAct=EBI-12111000, EBI-12807776;
CC       P55771; O43474: KLF4; NbExp=3; IntAct=EBI-12111000, EBI-7232405;
CC       P55771; Q3SY46: KRTAP13-3; NbExp=3; IntAct=EBI-12111000, EBI-10241252;
CC       P55771; P25791-3: LMO2; NbExp=3; IntAct=EBI-12111000, EBI-11959475;
CC       P55771; Q8WY64: MYLIP; NbExp=6; IntAct=EBI-12111000, EBI-6952711;
CC       P55771; Q99471: PFDN5; NbExp=3; IntAct=EBI-12111000, EBI-357275;
CC       P55771; Q9UPG8: PLAGL2; NbExp=5; IntAct=EBI-12111000, EBI-2876622;
CC       P55771; P31947: SFN; NbExp=3; IntAct=EBI-12111000, EBI-476295;
CC       P55771; Q8ND83: SLAIN1; NbExp=3; IntAct=EBI-12111000, EBI-10269374;
CC       P55771; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-12111000, EBI-11139477;
CC       P55771; Q08117-2: TLE5; NbExp=3; IntAct=EBI-12111000, EBI-11741437;
CC       P55771; Q15645: TRIP13; NbExp=3; IntAct=EBI-12111000, EBI-358993;
CC       P55771; A5D8V6: VPS37C; NbExp=3; IntAct=EBI-12111000, EBI-2559305;
CC       P55771; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-12111000, EBI-12040603;
CC       P55771; Q6P1L6: ZNF343; NbExp=3; IntAct=EBI-12111000, EBI-10252492;
CC   -!- SUBCELLULAR LOCATION: Nucleus.
CC   -!- DISEASE: Tooth agenesis, selective, 3 (STHAG3) [MIM:604625]: A form of
CC       selective tooth agenesis, a common anomaly characterized by the
CC       congenital absence of one or more teeth. Selective tooth agenesis
CC       without associated systemic disorders has sometimes been divided into 2
CC       types: oligodontia, defined as agenesis of 6 or more permanent teeth,
CC       and hypodontia, defined as agenesis of less than 6 teeth. The number in
CC       both cases does not include absence of third molars (wisdom teeth).
CC       {ECO:0000269|PubMed:12786960}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC       Haematology;
CC       URL="https://atlasgeneticsoncology.org/gene/41644/PAX9";
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DR   EMBL; AJ238381; CAB41533.1; -; Genomic_DNA.
DR   EMBL; AJ238382; CAB41533.1; JOINED; Genomic_DNA.
DR   EMBL; AJ238383; CAB41533.1; JOINED; Genomic_DNA.
DR   EMBL; BC001159; AAH01159.1; -; mRNA.
DR   EMBL; L09745; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; X92850; CAA63436.1; -; mRNA.
DR   CCDS; CCDS9662.1; -.
DR   PIR; S36155; S36155.
DR   RefSeq; NP_006185.1; NM_006194.3.
DR   AlphaFoldDB; P55771; -.
DR   SMR; P55771; -.
DR   BioGRID; 111117; 130.
DR   CORUM; P55771; -.
DR   IntAct; P55771; 121.
DR   STRING; 9606.ENSP00000355245; -.
DR   iPTMnet; P55771; -.
DR   PhosphoSitePlus; P55771; -.
DR   BioMuta; PAX9; -.
DR   DMDM; 8247954; -.
DR   EPD; P55771; -.
DR   jPOST; P55771; -.
DR   MassIVE; P55771; -.
DR   PaxDb; 9606-ENSP00000355245; -.
DR   PeptideAtlas; P55771; -.
DR   ProteomicsDB; 56860; -.
DR   Pumba; P55771; -.
DR   Antibodypedia; 9893; 340 antibodies from 36 providers.
DR   DNASU; 5083; -.
DR   Ensembl; ENST00000361487.7; ENSP00000355245.6; ENSG00000198807.13.
DR   Ensembl; ENST00000402703.6; ENSP00000384817.2; ENSG00000198807.13.
DR   GeneID; 5083; -.
DR   KEGG; hsa:5083; -.
DR   MANE-Select; ENST00000361487.7; ENSP00000355245.6; NM_001372076.1; NP_001359005.1.
DR   AGR; HGNC:8623; -.
DR   CTD; 5083; -.
DR   DisGeNET; 5083; -.
DR   GeneCards; PAX9; -.
DR   HGNC; HGNC:8623; PAX9.
DR   HPA; ENSG00000198807; Group enriched (esophagus, lymphoid tissue, parathyroid gland, salivary gland).
DR   MalaCards; PAX9; -.
DR   MIM; 167416; gene.
DR   MIM; 604625; phenotype.
DR   neXtProt; NX_P55771; -.
DR   OpenTargets; ENSG00000198807; -.
DR   Orphanet; 2227; NON RARE IN EUROPE: Hypodontia.
DR   Orphanet; 99798; Oligodontia.
DR   PharmGKB; PA32963; -.
DR   VEuPathDB; HostDB:ENSG00000198807; -.
DR   eggNOG; KOG3517; Eukaryota.
DR   GeneTree; ENSGT00940000159896; -.
DR   HOGENOM; CLU_019281_3_0_1; -.
DR   InParanoid; P55771; -.
DR   OMA; STMAPYP; -.
DR   OrthoDB; 5393942at2759; -.
DR   PhylomeDB; P55771; -.
DR   TreeFam; TF315397; -.
DR   PathwayCommons; P55771; -.
DR   SignaLink; P55771; -.
DR   SIGNOR; P55771; -.
DR   BioGRID-ORCS; 5083; 11 hits in 1178 CRISPR screens.
DR   ChiTaRS; PAX9; human.
DR   GeneWiki; PAX9; -.
DR   GenomeRNAi; 5083; -.
DR   Pharos; P55771; Tbio.
DR   PRO; PR:P55771; -.
DR   Proteomes; UP000005640; Chromosome 14.
DR   RNAct; P55771; Protein.
DR   Bgee; ENSG00000198807; Expressed in lower esophagus mucosa and 89 other cell types or tissues.
DR   ExpressionAtlas; P55771; baseline and differential.
DR   GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR   GO; GO:0005730; C:nucleolus; IDA:HPA.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR   GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR   GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR   GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR   GO; GO:0071363; P:cellular response to growth factor stimulus; IEA:Ensembl.
DR   GO; GO:0007492; P:endoderm development; IEA:Ensembl.
DR   GO; GO:0060325; P:face morphogenesis; IEA:Ensembl.
DR   GO; GO:0045892; P:negative regulation of DNA-templated transcription; IDA:UniProtKB.
DR   GO; GO:0042476; P:odontogenesis; IEA:Ensembl.
DR   GO; GO:0042481; P:regulation of odontogenesis; IEA:Ensembl.
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.
DR   Genevisible; P55771; HS.
PE   1: Evidence at protein level;
KW   Developmental protein; Disease variant; DNA-binding; Nucleus; Paired box;
KW   Reference proteome; Transcription; Transcription regulation.
FT   CHAIN           1..341
FT                   /note="Paired box protein Pax-9"
FT                   /id="PRO_0000050203"
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:0000269|PubMed:12657635"
FT   VARIANT         51
FT                   /note="G -> S (in STHAG3; dbSNP:rs104894469)"
FT                   /evidence="ECO:0000269|PubMed:12786960"
FT                   /id="VAR_015698"
FT   VARIANT         240
FT                   /note="A -> P (in dbSNP:rs4904210)"
FT                   /id="VAR_034371"
FT   MUTAGEN         173..174
FT                   /note="VP->AA: Abolishes interaction with KDM5B."
FT                   /evidence="ECO:0000269|PubMed:12657635"
FT   MUTAGEN         179..180
FT                   /note="VP->AA: Abolishes interaction with KDM5B."
FT                   /evidence="ECO:0000269|PubMed:12657635"
FT   MUTAGEN         189
FT                   /note="P->A: Abolishes interaction with KDM5B."
FT                   /evidence="ECO:0000269|PubMed:12657635"
FT   CONFLICT        211
FT                   /note="V -> G (in Ref. 3; L09745)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   341 AA;  36310 MW;  F5E6B0BC991E7C1D CRC64;
     MEPAFGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH GCVSKILARY
     NETGSILPGA IGGSKPRVTT PTVVKHIRTY KQRDPGIFAW EIRDRLLADG VCDKYNVPSV
     SSISRILRNK IGNLAQQGHY DSYKQHQPTP QPALPYNHIY SYPSPITAAA AKVPTPPGVP
     AIPGSVAMPR TWPSSHSVTD ILGIRSITDQ VSDSSPYHSP KVEEWSSLGR NNFPAAAPHA
     VNGLEKGALE QEAKYGQAPN GLPAVGSFVS ASSMAPYPTP AQVSPYMTYS AAPSGYVAGH
     GWQHAGGTSL SPHNCDIPAS LAFKGMQAAR EGSHSVTASA L
//