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Protein

Paired box protein Pax-9

Gene

PAX9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs.By similarity

GO - Molecular functioni

  1. RNA polymerase II regulatory region sequence-specific DNA binding Source: Ensembl
  2. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl

GO - Biological processi

  1. cellular response to growth factor stimulus Source: Ensembl
  2. endoderm development Source: Ensembl
  3. face morphogenesis Source: Ensembl
  4. negative regulation of transcription, DNA-templated Source: UniProtKB
  5. odontogenesis Source: Ensembl
  6. regulation of odontogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-9
Gene namesi
Name:PAX9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:8623. PAX9.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Tooth agenesis selective 31 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth).

See also OMIM:604625
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti51 – 511G → S in STHAG3. 1 Publication
VAR_015698

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi173 – 1742VP → AA: Abolishes interaction with KDM5B. 1 Publication
Mutagenesisi179 – 1802VP → AA: Abolishes interaction with KDM5B. 1 Publication
Mutagenesisi189 – 1891P → A: Abolishes interaction with KDM5B. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi604625. phenotype.
Orphaneti2227. Hypodontia.
99798. Oligodontia.
PharmGKBiPA32963.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 341341Paired box protein Pax-9PRO_0000050203Add
BLAST

Proteomic databases

MaxQBiP55771.
PaxDbiP55771.
PRIDEiP55771.

PTM databases

PhosphoSiteiP55771.

Expressioni

Gene expression databases

BgeeiP55771.
CleanExiHS_PAX9.
ExpressionAtlasiP55771. baseline and differential.
GenevestigatoriP55771.

Organism-specific databases

HPAiHPA038462.

Interactioni

Subunit structurei

Interacts with KDM5B.1 Publication

Protein-protein interaction databases

BioGridi111117. 10 interactions.
STRINGi9606.ENSP00000355245.

Structurei

3D structure databases

ProteinModelPortaliP55771.
SMRiP55771. Positions 8-130.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 130127PairedPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni168 – 18922Interaction with KDM5BAdd
BLAST

Sequence similaritiesi

Contains 1 paired domain.PROSITE-ProRule annotation

Keywords - Domaini

Paired box

Phylogenomic databases

eggNOGiNOG252808.
HOGENOMiHOG000230938.
HOVERGENiHBG009115.
InParanoidiP55771.
KOiK09382.
OMAiWQHAGST.
OrthoDBiEOG79KPH3.
PhylomeDBiP55771.
TreeFamiTF315397.

Family and domain databases

Gene3Di1.10.10.10. 2 hits.
InterProiIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00292. PAX. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SMARTiSM00351. PAX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P55771-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEPAFGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH
60 70 80 90 100
GCVSKILARY NETGSILPGA IGGSKPRVTT PTVVKHIRTY KQRDPGIFAW
110 120 130 140 150
EIRDRLLADG VCDKYNVPSV SSISRILRNK IGNLAQQGHY DSYKQHQPTP
160 170 180 190 200
QPALPYNHIY SYPSPITAAA AKVPTPPGVP AIPGSVAMPR TWPSSHSVTD
210 220 230 240 250
ILGIRSITDQ VSDSSPYHSP KVEEWSSLGR NNFPAAAPHA VNGLEKGALE
260 270 280 290 300
QEAKYGQAPN GLPAVGSFVS ASSMAPYPTP AQVSPYMTYS AAPSGYVAGH
310 320 330 340
GWQHAGGTSL SPHNCDIPAS LAFKGMQAAR EGSHSVTASA L
Length:341
Mass (Da):36,310
Last modified:May 30, 2000 - v3
Checksum:iF5E6B0BC991E7C1D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti211 – 2111V → G in L09745 (PubMed:7981748).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti51 – 511G → S in STHAG3. 1 Publication
VAR_015698
Natural varianti240 – 2401A → P.
Corresponds to variant rs4904210 [ dbSNP | Ensembl ].
VAR_034371

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ238381, AJ238382, AJ238383 Genomic DNA. Translation: CAB41533.1.
BC001159 mRNA. Translation: AAH01159.1.
L09745 Genomic DNA. No translation available.
X92850 mRNA. Translation: CAA63436.1.
CCDSiCCDS9662.1.
PIRiS36155.
RefSeqiNP_006185.1. NM_006194.3.
UniGeneiHs.132576.
Hs.609574.

Genome annotation databases

EnsembliENST00000361487; ENSP00000355245; ENSG00000198807.
ENST00000402703; ENSP00000384817; ENSG00000198807.
GeneIDi5083.
KEGGihsa:5083.
UCSCiuc001wty.4. human.

Polymorphism databases

DMDMi8247954.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ238381, AJ238382, AJ238383 Genomic DNA. Translation: CAB41533.1.
BC001159 mRNA. Translation: AAH01159.1.
L09745 Genomic DNA. No translation available.
X92850 mRNA. Translation: CAA63436.1.
CCDSiCCDS9662.1.
PIRiS36155.
RefSeqiNP_006185.1. NM_006194.3.
UniGeneiHs.132576.
Hs.609574.

3D structure databases

ProteinModelPortaliP55771.
SMRiP55771. Positions 8-130.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111117. 10 interactions.
STRINGi9606.ENSP00000355245.

PTM databases

PhosphoSiteiP55771.

Polymorphism databases

DMDMi8247954.

Proteomic databases

MaxQBiP55771.
PaxDbiP55771.
PRIDEiP55771.

Protocols and materials databases

DNASUi5083.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361487; ENSP00000355245; ENSG00000198807.
ENST00000402703; ENSP00000384817; ENSG00000198807.
GeneIDi5083.
KEGGihsa:5083.
UCSCiuc001wty.4. human.

Organism-specific databases

CTDi5083.
GeneCardsiGC14P037126.
HGNCiHGNC:8623. PAX9.
HPAiHPA038462.
MIMi167416. gene.
604625. phenotype.
neXtProtiNX_P55771.
Orphaneti2227. Hypodontia.
99798. Oligodontia.
PharmGKBiPA32963.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG252808.
HOGENOMiHOG000230938.
HOVERGENiHBG009115.
InParanoidiP55771.
KOiK09382.
OMAiWQHAGST.
OrthoDBiEOG79KPH3.
PhylomeDBiP55771.
TreeFamiTF315397.

Miscellaneous databases

ChiTaRSiPAX9. human.
GeneWikiiPAX9.
GenomeRNAii5083.
NextBioi19612.
PROiP55771.
SOURCEiSearch...

Gene expression databases

BgeeiP55771.
CleanExiHS_PAX9.
ExpressionAtlasiP55771. baseline and differential.
GenevestigatoriP55771.

Family and domain databases

Gene3Di1.10.10.10. 2 hits.
InterProiIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00292. PAX. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SMARTiSM00351. PAX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Evolutionary conservation of gene structures of the Pax1/9 gene family."
    Hetzer-Egger C., Schorpp M., Boehm T.
    Biochim. Biophys. Acta 1492:517-521(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.
  3. "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9."
    Stapleton P., Weith A., Urbanek P., Kozmik Z., Busslinger M.
    Nat. Genet. 3:292-298(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-211.
  4. "Isolation of the Pax9 cDNA from adult human esophagus."
    Peters H., Schuster G., Neubueser A., Richter T., Hoefler H.
    Mamm. Genome 8:62-64(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-339.
    Tissue: Esophagus.
  5. "Human PLU-1 has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9."
    Tan K., Shaw A.L., Madsen B., Jensen K., Taylor-Papadimitriou J., Freemont P.S.
    J. Biol. Chem. 278:20507-20513(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH KDM5B, MUTAGENESIS OF 173-VAL-PRO-174; 179-VAL-PRO-180 AND PRO-189, FUNCTION.
  6. "Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia."
    Mostowska A., Kobielak A., Biedziak B., Trzeciak W.H.
    Eur. J. Oral Sci. 111:272-276(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT STHAG3 SER-51.

Entry informationi

Entry nameiPAX9_HUMAN
AccessioniPrimary (citable) accession number: P55771
Secondary accession number(s): Q99582, Q9UQR4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 30, 2000
Last modified: January 7, 2015
This is version 136 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.