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P55771 (PAX9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Paired box protein Pax-9
Gene names
Name:PAX9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length341 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.5

Subunit structure

Interacts with KDM5B. Ref.5

Subcellular location

Nucleus.

Involvement in disease

Tooth agenesis selective 3 (STHAG3) [MIM:604625]: A 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).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Contains 1 paired domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 341341Paired box protein Pax-9
PRO_0000050203

Regions

Domain4 – 130127Paired
Region168 – 18922Interaction with KDM5B

Natural variations

Natural variant511G → S in STHAG3. Ref.6
VAR_015698
Natural variant2401A → P.
Corresponds to variant rs4904210 [ dbSNP | Ensembl ].
VAR_034371

Experimental info

Mutagenesis173 – 1742VP → AA: Abolishes interaction with KDM5B.
Mutagenesis179 – 1802VP → AA: Abolishes interaction with KDM5B.
Mutagenesis1891P → A: Abolishes interaction with KDM5B. Ref.5
Sequence conflict2111V → G in L09745. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P55771 [UniParc].

Last modified May 30, 2000. Version 3.
Checksum: F5E6B0BC991E7C1D

FASTA34136,310
        10         20         30         40         50         60 
MEPAFGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH GCVSKILARY 

        70         80         90        100        110        120 
NETGSILPGA IGGSKPRVTT PTVVKHIRTY KQRDPGIFAW EIRDRLLADG VCDKYNVPSV 

       130        140        150        160        170        180 
SSISRILRNK IGNLAQQGHY DSYKQHQPTP QPALPYNHIY SYPSPITAAA AKVPTPPGVP 

       190        200        210        220        230        240 
AIPGSVAMPR TWPSSHSVTD ILGIRSITDQ VSDSSPYHSP KVEEWSSLGR NNFPAAAPHA 

       250        260        270        280        290        300 
VNGLEKGALE QEAKYGQAPN GLPAVGSFVS ASSMAPYPTP AQVSPYMTYS AAPSGYVAGH 

       310        320        330        340 
GWQHAGGTSL SPHNCDIPAS LAFKGMQAAR EGSHSVTASA L 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ238381, AJ238382, AJ238383 Genomic DNA. Translation: CAB41533.1.
BC001159 mRNA. Translation: AAH01159.1.
L09745 Genomic DNA. No translation available.
X92850 mRNA. Translation: CAA63436.1.
PIRS36155.
RefSeqNP_006185.1. NM_006194.3.
UniGeneHs.132576.
Hs.609574.

3D structure databases

ProteinModelPortalP55771.
SMRP55771. Positions 8-130.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111117. 10 interactions.
STRING9606.ENSP00000355245.

PTM databases

PhosphoSiteP55771.

Polymorphism databases

DMDM8247954.

Proteomic databases

PaxDbP55771.
PRIDEP55771.

Protocols and materials databases

DNASU5083.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361487; ENSP00000355245; ENSG00000198807.
ENST00000402703; ENSP00000384817; ENSG00000198807.
GeneID5083.
KEGGhsa:5083.
UCSCuc001wty.4. human.

Organism-specific databases

CTD5083.
GeneCardsGC14P037126.
HGNCHGNC:8623. PAX9.
HPAHPA038462.
MIM167416. gene.
604625. phenotype.
neXtProtNX_P55771.
Orphanet2227. Hypodontia.
99798. Oligodontia.
PharmGKBPA32963.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG252808.
HOGENOMHOG000230938.
HOVERGENHBG009115.
InParanoidP55771.
KOK09382.
OMAWQHAGST.
OrthoDBEOG79KPH3.
PhylomeDBP55771.
TreeFamTF315397.

Gene expression databases

ArrayExpressP55771.
BgeeP55771.
CleanExHS_PAX9.
GenevestigatorP55771.

Family and domain databases

Gene3D1.10.10.10. 2 hits.
InterProIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00292. PAX. 1 hit.
[Graphical view]
PRINTSPR00027. PAIREDBOX.
SMARTSM00351. PAX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPAX9.
GenomeRNAi5083.
NextBio19612.
PROP55771.
SOURCESearch...

Entry information

Entry namePAX9_HUMAN
AccessionPrimary (citable) accession number: P55771
Secondary accession number(s): Q99582, Q9UQR4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 30, 2000
Last modified: April 16, 2014
This is version 130 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM