P55771 (PAX9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Paired box protein Pax-9

Gene names

Name:

PAX9

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	341 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Paired box
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular response to growth factor stimulus Inferred from electronic annotation. Source: Compara endoderm development Inferred from electronic annotation. Source: Compara face morphogenesis Inferred from electronic annotation. Source: Compara multicellular organismal development Non-traceable author statement. Source: UniProtKB negative regulation of transcription, DNA-dependent Inferred from direct assay Ref.5. Source: UniProtKB odontogenesis Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara regulation of odontogenesis Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	mitochondrion Inferred from direct assay. Source: HPA nucleus Non-traceable author statement. Source: UniProtKB
Molecular_function	DNA binding Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 341	341	Paired box protein Pax-9		PRO_0000050203
Regions
	Domain	4 – 130	127	Paired
	Region	168 – 189	22	Interaction with KDM5B
Natural variations
	Natural variant	51	1	G → S in STHAG3. Ref.6		VAR_015698
	Natural variant	240	1	A → P. Corresponds to variant rs4904210 [ dbSNP | Ensembl ].		VAR_034371
Experimental info
	Mutagenesis	173 – 174	2	VP → AA: Abolishes interaction with KDM5B.
	Mutagenesis	179 – 180	2	VP → AA: Abolishes interaction with KDM5B.
	Mutagenesis	189	1	P → A: Abolishes interaction with KDM5B. Ref.5
	Sequence conflict	211	1	V → G in L09745. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P55771 [UniParc]. Last modified May 30, 2000. Version 3. Checksum: F5E6B0BC991E7C1D	FASTA	341	36,310
	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

References

	« Hide 'large scale' referencesShow '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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.
IPI	IPI00413469.
PIR	S36155.
RefSeq	NP_006185.1. NM_006194.3.
UniGene	Hs.132576. Hs.609574.
3D structure databases
ProteinModelPortal	P55771.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000355245.
PTM databases
PhosphoSite	P55771.
Polymorphism databases
DMDM	8247954.
Proteomic databases
PaxDb	P55771.
PRIDE	P55771.
Protocols and materials databases
DNASU	5083.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000361487; ENSP00000355245; ENSG00000198807. ENST00000402703; ENSP00000384817; ENSG00000198807.
GeneID	5083.
KEGG	hsa:5083.
UCSC	uc001wty.4. human.
Organism-specific databases
CTD	5083.
GeneCards	GC14P037126.
HGNC	HGNC:8623. PAX9.
HPA	HPA038462.
MIM	167416. gene. 604625. phenotype.
neXtProt	NX_P55771.
Orphanet	2227. Hypodontia. 99798. Oligodontia.
PharmGKB	PA32963.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG252808.
HOGENOM	HOG000230938.
HOVERGEN	HBG009115.
InParanoid	P55771.
KO	K09382.
OMA	WQHAGST.
OrthoDB	EOG4RBQJV.
PhylomeDB	P55771.
Gene expression databases
ArrayExpress	P55771.
Bgee	P55771.
CleanEx	HS_PAX9.
Genevestigator	P55771.
GermOnline	ENSG00000198807. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.10. 2 hits.
InterPro	IPR009057. Homeodomain-like. IPR001523. Paired_dom. IPR011991. WHTH_DNA-bd_dom. [Graphical view]
Pfam	PF00292. PAX. 1 hit. [Graphical view]
PRINTS	PR00027. PAIREDBOX.
SMART	SM00351. PAX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00034. PAIRED_1. 1 hit. PS51057. PAIRED_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	5083.
NextBio	19612.
SOURCE	Search...

Entry information

Entry name

PAX9_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 123 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.