PAX9_HUMAN
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 03-AUG-2022, entry version 186.
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="http://atlasgeneticsoncology.org/Genes/PAX9ID41644ch14q12.html";
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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; 128.
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; P55771; -.
DR PeptideAtlas; P55771; -.
DR PRIDE; P55771; -.
DR ProteomicsDB; 56860; -.
DR Antibodypedia; 9893; 315 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 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; ASTMAPY; -.
DR OrthoDB; 1339212at2759; -.
DR PhylomeDB; P55771; -.
DR TreeFam; TF315397; -.
DR PathwayCommons; P55771; -.
DR SignaLink; P55771; -.
DR SIGNOR; P55771; -.
DR BioGRID-ORCS; 5083; 11 hits in 1102 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 88 other tissues.
DR ExpressionAtlas; P55771; baseline and differential.
DR Genevisible; P55771; HS.
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 transcription, DNA-templated; 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; -; 2.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR043182; PAIRED_DNA-bd_dom.
DR InterPro; IPR001523; Paired_dom.
DR InterPro; IPR033204; PAX9.
DR InterPro; IPR043565; PAX_fam.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR PANTHER; PTHR45636; PTHR45636; 1.
DR PANTHER; PTHR45636:SF13; PTHR45636:SF13; 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 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
