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P55771

- PAX9_HUMAN

UniProt

P55771 - PAX9_HUMAN

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Protein
Paired box protein Pax-9
Gene
PAX9
Organism
Homo sapiens (Human)
Status
Reviewed - 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.1 Publication

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. protein binding Source: UniProtKB

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. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  7. regulation of odontogenesis Source: Ensembl
  8. transcription, DNA-templated Source: UniProtKB-KW
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 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.1 Publication
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.
Mutagenesisi179 – 1802VP → AA: Abolishes interaction with KDM5B.
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-9
PRO_0000050203Add
BLAST

Proteomic databases

PaxDbiP55771.
PRIDEiP55771.

PTM databases

PhosphoSiteiP55771.

Expressioni

Gene expression databases

ArrayExpressiP55771.
BgeeiP55771.
CleanExiHS_PAX9.
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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 130127Paired
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni168 – 18922Interaction with KDM5B
Add
BLAST

Sequence similaritiesi

Contains 1 paired domain.

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

MEPAFGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH    50
GCVSKILARY NETGSILPGA IGGSKPRVTT PTVVKHIRTY KQRDPGIFAW 100
EIRDRLLADG VCDKYNVPSV SSISRILRNK IGNLAQQGHY DSYKQHQPTP 150
QPALPYNHIY SYPSPITAAA AKVPTPPGVP AIPGSVAMPR TWPSSHSVTD 200
ILGIRSITDQ VSDSSPYHSP KVEEWSSLGR NNFPAAAPHA VNGLEKGALE 250
QEAKYGQAPN GLPAVGSFVS ASSMAPYPTP AQVSPYMTYS AAPSGYVAGH 300
GWQHAGGTSL SPHNCDIPAS LAFKGMQAAR EGSHSVTASA L 341
Length:341
Mass (Da):36,310
Last modified:May 30, 2000 - v3
Checksum:iF5E6B0BC991E7C1D
GO

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti211 – 2111V → G in L09745. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS9662.1.
PIRi S36155.
RefSeqi NP_006185.1. NM_006194.3.
UniGenei Hs.132576.
Hs.609574.

3D structure databases

ProteinModelPortali P55771.
SMRi P55771. Positions 8-130.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111117. 10 interactions.
STRINGi 9606.ENSP00000355245.

PTM databases

PhosphoSitei P55771.

Polymorphism databases

DMDMi 8247954.

Proteomic databases

PaxDbi P55771.
PRIDEi P55771.

Protocols and materials databases

DNASUi 5083.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361487 ; ENSP00000355245 ; ENSG00000198807 .
ENST00000402703 ; ENSP00000384817 ; ENSG00000198807 .
GeneIDi 5083.
KEGGi hsa:5083.
UCSCi uc001wty.4. human.

Organism-specific databases

CTDi 5083.
GeneCardsi GC14P037126.
HGNCi HGNC:8623. PAX9.
HPAi HPA038462.
MIMi 167416. gene.
604625. phenotype.
neXtProti NX_P55771.
Orphaneti 2227. Hypodontia.
99798. Oligodontia.
PharmGKBi PA32963.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG252808.
HOGENOMi HOG000230938.
HOVERGENi HBG009115.
InParanoidi P55771.
KOi K09382.
OMAi WQHAGST.
OrthoDBi EOG79KPH3.
PhylomeDBi P55771.
TreeFami TF315397.

Miscellaneous databases

GeneWikii PAX9.
GenomeRNAii 5083.
NextBioi 19612.
PROi P55771.
SOURCEi Search...

Gene expression databases

ArrayExpressi P55771.
Bgeei P55771.
CleanExi HS_PAX9.
Genevestigatori P55771.

Family and domain databases

Gene3Di 1.10.10.10. 2 hits.
InterProi IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00292. PAX. 1 hit.
[Graphical view ]
PRINTSi PR00027. PAIREDBOX.
SMARTi SM00351. PAX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: July 9, 2014
This is version 132 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

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