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P55771

- PAX9_HUMAN

UniProt

P55771 - PAX9_HUMAN

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
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 3 (30 May 2000)
      Previous versions | rss
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    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

    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

    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

    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).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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-9PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini4 – 130127PairedPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni168 – 18922Interaction with KDM5BAdd
    BLAST

    Sequence similaritiesi

    Contains 1 paired domain.PROSITE-ProRule annotation

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti211 – 2111V → G in L09745. (PubMed:7981748)Curated

    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 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

    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: October 1, 2014
    This is version 133 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