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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 similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiP55771.

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-9
Gene namesi
Name:PAX9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000198807.12.
HGNCiHGNC:8623. PAX9.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Tooth agenesis, selective, 3 (STHAG3)1 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01569851G → S in STHAG3. 1 PublicationCorresponds to variant dbSNP:rs104894469Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi173 – 174VP → AA: Abolishes interaction with KDM5B. 1 Publication2
Mutagenesisi179 – 180VP → AA: Abolishes interaction with KDM5B. 1 Publication2
Mutagenesisi189P → A: Abolishes interaction with KDM5B. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5083.
MalaCardsiPAX9.
MIMi604625. phenotype.
OpenTargetsiENSG00000198807.
Orphaneti2227. Hypodontia.
99798. Oligodontia.
PharmGKBiPA32963.

Polymorphism and mutation databases

BioMutaiPAX9.
DMDMi8247954.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000502031 – 341Paired box protein Pax-9Add BLAST341

Proteomic databases

PaxDbiP55771.
PeptideAtlasiP55771.
PRIDEiP55771.

PTM databases

iPTMnetiP55771.
PhosphoSitePlusiP55771.

Expressioni

Gene expression databases

BgeeiENSG00000198807.
CleanExiHS_PAX9.
ExpressionAtlasiP55771. baseline and differential.
GenevisibleiP55771. HS.

Organism-specific databases

HPAiHPA038462.

Interactioni

Subunit structurei

Interacts with KDM5B.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TRIP13Q156454EBI-12111000,EBI-358993

Protein-protein interaction databases

BioGridi111117. 11 interactors.
CORUMiP55771.
IntActiP55771. 9 interactors.
STRINGi9606.ENSP00000355245.

Structurei

3D structure databases

ProteinModelPortaliP55771.
SMRiP55771.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4 – 130PairedPROSITE-ProRule annotationAdd BLAST127

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni168 – 189Interaction with KDM5B1 PublicationAdd BLAST22

Keywords - Domaini

Paired box

Phylogenomic databases

eggNOGiKOG3517. Eukaryota.
ENOG4111FI9. LUCA.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230938.
HOVERGENiHBG009115.
InParanoidiP55771.
KOiK09382.
OMAiWQHAGST.
OrthoDBiEOG091G0S4E.
PhylomeDBiP55771.
TreeFamiTF315397.

Family and domain databases

CDDicd00131. PAX. 1 hit.
Gene3Di1.10.10.10. 2 hits.
InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR001523. Paired_dom.
IPR033204. PAX9.
IPR036388. WH-like_DNA-bd_sf.
PANTHERiPTHR24329:SF297. PTHR24329:SF297. 1 hit.
PfamiView protein in Pfam
PF00292. PAX. 1 hit.
PRINTSiPR00027. PAIREDBOX.
SMARTiView protein in SMART
SM00351. PAX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.

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)DescriptionActionsGraphical viewLength
Sequence conflicti211V → G in L09745 (PubMed:7981748).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01569851G → S in STHAG3. 1 PublicationCorresponds to variant dbSNP:rs104894469Ensembl.1
Natural variantiVAR_034371240A → P. Corresponds to variant dbSNP:rs4904210Ensembl.1

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.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPAX9_HUMAN
AccessioniPrimary (citable) accession number: P55771
Secondary accession number(s): Q99582, Q9UQR4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 30, 2000
Last modified: October 25, 2017
This is version 157 of the entry and version 3 of the sequence. See 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