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P09084

- PAX1_MOUSE

UniProt

P09084 - PAX1_MOUSE

Protein

Paired box protein Pax-1

Gene

Pax1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 4 (18 May 2010)
      Previous versions | rss
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    Functioni

    This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column.

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. sequence-specific DNA binding transcription factor activity Source: MGI

    GO - Biological processi

    1. bone morphogenesis Source: MGI
    2. CD4-positive, alpha-beta T cell differentiation Source: MGI
    3. CD8-positive, alpha-beta T cell differentiation Source: MGI
    4. cell proliferation Source: MGI
    5. organ morphogenesis Source: MGI
    6. parathyroid gland development Source: MGI
    7. pattern specification process Source: MGI
    8. positive regulation of transcription from RNA polymerase II promoter Source: MGI
    9. regulation of transcription, DNA-templated Source: MGI
    10. sclerotome development Source: UniProtKB
    11. skeletal system development Source: MGI
    12. somitogenesis Source: MGI
    13. thymus development Source: MGI
    14. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Paired box protein Pax-1
    Gene namesi
    Name:Pax1
    Synonyms:Pax-1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 2

    Organism-specific databases

    MGIiMGI:97485. Pax1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell
    2. transcription factor complex Source: MGI

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Undulated (un) homozygous mice exhibits vertebral malformations along the entire rostro-caudal axis. This is due to a single mutation in the paired box region.

    Keywords - Diseasei

    Disease mutation

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 446446Paired box protein Pax-1PRO_0000050173Add
    BLAST

    Proteomic databases

    PRIDEiP09084.

    PTM databases

    PhosphoSiteiP09084.

    Expressioni

    Gene expression databases

    BgeeiP09084.
    CleanExiMM_PAX1.
    GenevestigatoriP09084.

    Interactioni

    Protein-protein interaction databases

    BioGridi202028. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliP09084.
    SMRiP09084. Positions 93-215.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini89 – 215127PairedPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 paired domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Paired box

    Phylogenomic databases

    eggNOGiNOG252808.
    GeneTreeiENSGT00680000099553.
    HOGENOMiHOG000230938.
    HOVERGENiHBG009115.
    InParanoidiP09084.
    KOiK09382.
    OMAiKMGSHHG.
    PhylomeDBiP09084.
    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.

    P09084-1 [UniParc]FASTAAdd to Basket

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    MKFTLGLGSR AWRVSWERAA AAAAGPGAGG ALGSGSLRVS SRRGPRLARA    50
    LPLCLSGGGG ARALPDCAGP SPRRSGARQL AGPRAMEQTY GEVNQLGGVF 100
    VNGRPLPNAI RLRIVELAQL GIRPCDISRQ LRVSHGCVSK ILARYNETGS 150
    ILPGAIGGSK PRVTTPNVVK HIRDYKQGDP GIFAWEIRDR LLADGVCDKY 200
    NVPSVSSISR ILRNKIGSLA QPGPYEASKQ PPPQPALPYN HIYQYPYPSP 250
    VSPTGTKMGT HPGVPGSAGH VSIPRSWPSA HSVSNILGIR TFMEQTGALA 300
    GSEGAAYSPK MEDWAGVNRA AFPTSPAVNG LEKPALEADI KYTQSASSLS 350
    AVGGFLPACA YPASNQHGVY SAPAAGYLSP GPPWPPAQAP PLTPHGAGVA 400
    VHGGELAAAM TFKHREGTDR KPPSPGGKAT DALGSLHGLP IPASTS 446
    Length:446
    Mass (Da):46,263
    Last modified:May 18, 2010 - v4
    Checksum:i635FE7318A946D6C
    GO

    Sequence cautioni

    The sequence AAA39888.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAA37793.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti141 – 1411I → M in AAA37793. (PubMed:2453291)Curated
    Sequence conflicti300 – 3001A → T in AAA39888. (PubMed:1889089)Curated
    Sequence conflicti345 – 3451S → L in AAA39888. (PubMed:1889089)Curated
    Sequence conflicti367 – 3671H → Q in AAA39888. (PubMed:1889089)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti103 – 1031G → S in un. 1 Publication

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ133503, AJ133504, AJ133505 Genomic DNA. Translation: CAB38370.1.
    AL805918 Genomic DNA. Translation: CAM17060.2.
    M69222 mRNA. Translation: AAA39888.1. Different initiation.
    M20978 Genomic DNA. Translation: AAA37793.1. Sequence problems.
    CCDSiCCDS16835.2.
    PIRiA29902.
    A40023.
    RefSeqiNP_032806.2. NM_008780.2.
    UniGeneiMm.315502.

    Genome annotation databases

    EnsembliENSMUST00000109968; ENSMUSP00000105594; ENSMUSG00000037034.
    GeneIDi18503.
    KEGGimmu:18503.
    UCSCiuc008msx.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ133503 , AJ133504 , AJ133505 Genomic DNA. Translation: CAB38370.1 .
    AL805918 Genomic DNA. Translation: CAM17060.2 .
    M69222 mRNA. Translation: AAA39888.1 . Different initiation.
    M20978 Genomic DNA. Translation: AAA37793.1 . Sequence problems.
    CCDSi CCDS16835.2.
    PIRi A29902.
    A40023.
    RefSeqi NP_032806.2. NM_008780.2.
    UniGenei Mm.315502.

    3D structure databases

    ProteinModelPortali P09084.
    SMRi P09084. Positions 93-215.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 202028. 2 interactions.

    PTM databases

    PhosphoSitei P09084.

    Proteomic databases

    PRIDEi P09084.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000109968 ; ENSMUSP00000105594 ; ENSMUSG00000037034 .
    GeneIDi 18503.
    KEGGi mmu:18503.
    UCSCi uc008msx.2. mouse.

    Organism-specific databases

    CTDi 5075.
    MGIi MGI:97485. Pax1.

    Phylogenomic databases

    eggNOGi NOG252808.
    GeneTreei ENSGT00680000099553.
    HOGENOMi HOG000230938.
    HOVERGENi HBG009115.
    InParanoidi P09084.
    KOi K09382.
    OMAi KMGSHHG.
    PhylomeDBi P09084.
    TreeFami TF315397.

    Miscellaneous databases

    NextBioi 294216.
    PROi P09084.
    SOURCEi Search...

    Gene expression databases

    Bgeei P09084.
    CleanExi MM_PAX1.
    Genevestigatori P09084.

    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 structure of the pax1/9 gene family."
      Egger C., Schorpp M., Boehm T.
      Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Strain: 129/Sv.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-446.
    4. "Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development."
      Deutsch U., Dressler G.R., Gruss P.
      Cell 53:617-625(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 91-217.
    5. "Undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1."
      Balling R., Dressler G.R., Gruss P.
      Cell 55:531-535(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT UN SER-103.

    Entry informationi

    Entry nameiPAX1_MOUSE
    AccessioniPrimary (citable) accession number: P09084
    Secondary accession number(s): A2ALJ9, Q9R2B1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1988
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 125 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3