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Protein

Paired box protein Pax-9

Gene

PAX9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi167416 gene
neXtProtiNX_P55771

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:rs104894469EnsemblClinVar.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
ProteomicsDBi56860

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_sf
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:rs104894469EnsemblClinVar.1
Natural variantiVAR_034371240A → P. Corresponds to variant dbSNP:rs4904210EnsemblClinVar.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: June 20, 2018
This is version 162 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

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