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P23759

- PAX7_HUMAN

UniProt

P23759 - PAX7_HUMAN

Protein

Paired box protein Pax-7

Gene

PAX7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 153 (01 Oct 2014)
      Sequence version 3 (30 May 2000)
      Previous versions | rss
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    Functioni

    Transcription factor playing a role in myogenesis through regulation of muscle precursor cells proliferation.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi217 – 27660HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity Source: Ensembl
    2. sequence-specific DNA binding Source: Ensembl
    3. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. cartilage development Source: Ensembl
    3. chromatin remodeling Source: Ensembl
    4. dorsal/ventral neural tube patterning Source: Ensembl
    5. embryonic skeletal system development Source: Ensembl
    6. muscle tissue morphogenesis Source: Ensembl
    7. negative regulation of apoptotic process Source: ProtInc
    8. neuron fate commitment Source: Ensembl
    9. positive regulation of histone methylation Source: Ensembl
    10. positive regulation of myoblast proliferation Source: Ensembl
    11. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    12. regulation of cell fate commitment Source: Ensembl
    13. regulation of protein binding Source: Ensembl
    14. skeletal muscle satellite cell commitment Source: Ensembl
    15. skeletal muscle tissue regeneration Source: Ensembl
    16. spinal cord association neuron differentiation Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Myogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Paired box protein Pax-7
    Alternative name(s):
    HuP1
    Gene namesi
    Name:PAX7
    Synonyms:HUP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:8621. PAX7.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Rhabdomyosarcoma 2 (RMS2) [MIM:268220]: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.
    Note: The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX7 is found in rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a transcriptional activator.

    Keywords - Diseasei

    Proto-oncogene

    Organism-specific databases

    MIMi268220. phenotype.
    Orphaneti99756. Alveolar rhabdomyosarcoma.
    PharmGKBiPA32961.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 520520Paired box protein Pax-7PRO_0000050194Add
    BLAST

    Proteomic databases

    PaxDbiP23759.
    PRIDEiP23759.

    PTM databases

    PhosphoSiteiP23759.

    Expressioni

    Gene expression databases

    ArrayExpressiP23759.
    BgeeiP23759.
    CleanExiHS_PAX7.
    GenevestigatoriP23759.

    Interactioni

    Subunit structurei

    Can bind to DNA as a heterodimer with PAX3. Interacts with PAXBP1; the interaction links PAX7 to a WDR5-containing histone methyltransferase complex By similarity. Interacts with DAXX.By similarity

    Protein-protein interaction databases

    BioGridi111115. 5 interactions.
    IntActiP23759. 7 interactions.
    MINTiMINT-7241806.
    STRINGi9606.ENSP00000364524.

    Structurei

    3D structure databases

    ProteinModelPortaliP23759.
    SMRiP23759. Positions 35-160, 217-275.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini34 – 163130PairedPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni27 – 210184Sufficient to mediate interaction with PAXBP1By similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi340 – 3467Poly-Ala

    Sequence similaritiesi

    Belongs to the paired homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
    Contains 1 paired domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox, Paired box

    Phylogenomic databases

    eggNOGiNOG326044.
    HOGENOMiHOG000230939.
    HOVERGENiHBG009115.
    InParanoidiP23759.
    KOiK09381.
    OMAiYKVVSGW.
    OrthoDBiEOG7WT431.
    PhylomeDBiP23759.
    TreeFamiTF351610.

    Family and domain databases

    Gene3Di1.10.10.10. 2 hits.
    1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR001523. Paired_dom.
    IPR022106. Pax7.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF00292. PAX. 1 hit.
    PF12360. Pax7. 1 hit.
    [Graphical view]
    PRINTSiPR00027. PAIREDBOX.
    SMARTiSM00389. HOX. 1 hit.
    SM00351. PAX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 2 hits.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS00034. PAIRED_1. 1 hit.
    PS51057. PAIRED_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform Long (identifier: P23759-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAALPGTVPR MMRPAPGQNY PRTGFPLEVS TPLGQGRVNQ LGGVFINGRP    50
    LPNHIRHKIV EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA 100
    IGGSKPRQVA TPDVEKKIEE YKRENPGMFS WEIRDRLLKD GHCDRSTVPS 150
    GLVSSISRVL RIKFGKKEEE DEADKKEDDG EKKAKHSIDG ILGDKGNRLD 200
    EGSDVESEPD LPLKRKQRRS RTTFTAEQLE ELEKAFERTH YPDIYTREEL 250
    AQRTKLTEAR VQVWFSNRRA RWRKQAGANQ LAAFNHLLPG GFPPTGMPTL 300
    PPYQLPDSTY PTTTISQDGG STVHRPQPLP PSTMHQGGLA AAAAAADTSS 350
    AYGARHSFSS YSDSFMNPAA PSNHMNPVSN GLSPQVMSIL GNPSAVPPQP 400
    QADFSISPLH GGLDSATSIS ASCSQRADSI KPGDSLPTSQ AYCPPTYSTT 450
    GYSVDPVAGY QYGQYGQSEC LVPWASPVPI PSPTPRASCL FMESYKVVSG 500
    WGMSISQMEK LKSSQMEQFT 520
    Length:520
    Mass (Da):56,896
    Last modified:May 30, 2000 - v3
    Checksum:i3B0F8CC99D65699C
    GO
    Isoform Short (identifier: P23759-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         151-152: Missing.

    Show »
    Length:518
    Mass (Da):56,726
    Checksum:i5400E4AF04F4023C
    GO
    Isoform 3 (identifier: P23759-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         468-520: SECLVPWASP...LKSSQMEQFT → TAVDYLAKNV...LLPVETGQAY

    Show »
    Length:505
    Mass (Da):55,119
    Checksum:iE51CF8B3E8D4C3D9
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Isoform 3 (identifier: P23759-3)
    Sequence conflicti468 – 4681T → S in ABC48797. (PubMed:16830101)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei151 – 1522Missing in isoform Short. 1 PublicationVSP_002370
    Alternative sequencei468 – 52053SECLV…MEQFT → TAVDYLAKNVSLSTQRRMKL GEHSAVLGLLPVETGQAY in isoform 3. 1 PublicationVSP_046666Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X96743 mRNA. Translation: CAA65520.1.
    X96744
    , X15042, X15250, X15251, X96745, X96746, X96747, X96748 Genomic DNA. Translation: CAA65521.1.
    X96744
    , X15042, X15250, X15251, X96745, X96746, X96747, X96748 Genomic DNA. Translation: CAA65522.1.
    DQ322591 mRNA. Translation: ABC48797.1.
    AL021528 Genomic DNA. Translation: CAA16432.1.
    CH471134 Genomic DNA. Translation: EAW94853.1.
    BC121165 mRNA. Translation: AAI21166.1.
    BC121166 mRNA. Translation: AAI21167.1.
    Z35141 mRNA. Translation: CAA84513.1.
    CCDSiCCDS186.1. [P23759-1]
    CCDS44074.1. [P23759-3]
    CCDS44075.1. [P23759-2]
    PIRiS78502.
    RefSeqiNP_001128726.1. NM_001135254.1. [P23759-3]
    NP_002575.1. NM_002584.2. [P23759-1]
    NP_039236.1. NM_013945.2. [P23759-2]
    UniGeneiHs.113253.

    Genome annotation databases

    EnsembliENST00000375375; ENSP00000364524; ENSG00000009709. [P23759-1]
    ENST00000400661; ENSP00000383502; ENSG00000009709. [P23759-2]
    ENST00000420770; ENSP00000403389; ENSG00000009709. [P23759-3]
    GeneIDi5081.
    KEGGihsa:5081.
    UCSCiuc001bay.3. human. [P23759-1]
    uc001baz.3. human. [P23759-2]

    Polymorphism databases

    DMDMi8247951.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X96743 mRNA. Translation: CAA65520.1 .
    X96744
    , X15042 , X15250 , X15251 , X96745 , X96746 , X96747 , X96748 Genomic DNA. Translation: CAA65521.1 .
    X96744
    , X15042 , X15250 , X15251 , X96745 , X96746 , X96747 , X96748 Genomic DNA. Translation: CAA65522.1 .
    DQ322591 mRNA. Translation: ABC48797.1 .
    AL021528 Genomic DNA. Translation: CAA16432.1 .
    CH471134 Genomic DNA. Translation: EAW94853.1 .
    BC121165 mRNA. Translation: AAI21166.1 .
    BC121166 mRNA. Translation: AAI21167.1 .
    Z35141 mRNA. Translation: CAA84513.1 .
    CCDSi CCDS186.1. [P23759-1 ]
    CCDS44074.1. [P23759-3 ]
    CCDS44075.1. [P23759-2 ]
    PIRi S78502.
    RefSeqi NP_001128726.1. NM_001135254.1. [P23759-3 ]
    NP_002575.1. NM_002584.2. [P23759-1 ]
    NP_039236.1. NM_013945.2. [P23759-2 ]
    UniGenei Hs.113253.

    3D structure databases

    ProteinModelPortali P23759.
    SMRi P23759. Positions 35-160, 217-275.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111115. 5 interactions.
    IntActi P23759. 7 interactions.
    MINTi MINT-7241806.
    STRINGi 9606.ENSP00000364524.

    PTM databases

    PhosphoSitei P23759.

    Polymorphism databases

    DMDMi 8247951.

    Proteomic databases

    PaxDbi P23759.
    PRIDEi P23759.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000375375 ; ENSP00000364524 ; ENSG00000009709 . [P23759-1 ]
    ENST00000400661 ; ENSP00000383502 ; ENSG00000009709 . [P23759-2 ]
    ENST00000420770 ; ENSP00000403389 ; ENSG00000009709 . [P23759-3 ]
    GeneIDi 5081.
    KEGGi hsa:5081.
    UCSCi uc001bay.3. human. [P23759-1 ]
    uc001baz.3. human. [P23759-2 ]

    Organism-specific databases

    CTDi 5081.
    GeneCardsi GC01P018957.
    HGNCi HGNC:8621. PAX7.
    MIMi 167410. gene.
    268220. phenotype.
    neXtProti NX_P23759.
    Orphaneti 99756. Alveolar rhabdomyosarcoma.
    PharmGKBi PA32961.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326044.
    HOGENOMi HOG000230939.
    HOVERGENi HBG009115.
    InParanoidi P23759.
    KOi K09381.
    OMAi YKVVSGW.
    OrthoDBi EOG7WT431.
    PhylomeDBi P23759.
    TreeFami TF351610.

    Miscellaneous databases

    GeneWikii PAX7.
    GenomeRNAii 5081.
    NextBioi 19602.
    PROi P23759.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P23759.
    Bgeei P23759.
    CleanExi HS_PAX7.
    Genevestigatori P23759.

    Family and domain databases

    Gene3Di 1.10.10.10. 2 hits.
    1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR001523. Paired_dom.
    IPR022106. Pax7.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF00292. PAX. 1 hit.
    PF12360. Pax7. 1 hit.
    [Graphical view ]
    PRINTSi PR00027. PAIREDBOX.
    SMARTi SM00389. HOX. 1 hit.
    SM00351. PAX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 2 hits.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS00034. PAIRED_1. 1 hit.
    PS51057. PAIRED_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The genomic organization and the full coding region of the human PAX7 gene."
      Vorobyov E., Mertsalov I., Dockhorn-Dworniczak B., Dworniczak B., Horst J.
      Genomics 45:168-174(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM SHORT).
    6. "Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes."
      Schaefer B.W., Czerny T., Bernasconi M., Genini M., Busslinger M.
      Nucleic Acids Res. 22:4574-4582(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-467 (ISOFORM LONG).
    7. "Conservation of the paired domain in metazoans and its structure in three isolated human genes."
      Burri M., Tromvoukis Y., Bopp D., Frigerio G., Noll M.
      EMBO J. 8:1183-1190(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE OF 30-195 (ISOFORM SHORT).
    8. "Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma."
      Davis R.J., D'Cruz C.M., Lovell M.A., Biegel J.A., Barr F.G.
      Cancer Res. 54:2869-2872(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION WITH FOXO1.

    Entry informationi

    Entry nameiPAX7_HUMAN
    AccessioniPrimary (citable) accession number: P23759
    Secondary accession number(s): E9PFV9, Q0VA99, Q2PJS5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1991
    Last sequence update: May 30, 2000
    Last modified: October 1, 2014
    This is version 153 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 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3