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Q02548

- PAX5_HUMAN

UniProt

Q02548 - PAX5_HUMAN

Protein

Paired box protein Pax-5

Gene

PAX5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 1 (01 Oct 1993)
      Previous versions | rss
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    Functioni

    May play an important role in B-cell differentiation as well as neural development and spermatogenesis. Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei158 – 1592Breakpoint for translocation to form PAX5-ETV6
    Sitei260 – 2612Breakpoint for translocation to form PAX5-FOXP1
    Sitei303 – 3042Breakpoint for translocation to form PAX5-ZNF521

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. protein binding Source: IntAct
    3. sequence-specific DNA binding transcription factor activity Source: Ensembl

    GO - Biological processi

    1. humoral immune response Source: ProtInc
    2. multicellular organismal development Source: ProtInc
    3. negative regulation of histone H3-K9 methylation Source: Ensembl
    4. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    5. nervous system development Source: UniProtKB-KW
    6. organ morphogenesis Source: ProtInc
    7. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    8. skeletal muscle cell differentiation Source: Ensembl
    9. spermatogenesis Source: UniProtKB-KW
    10. transcription from RNA polymerase II promoter Source: ProtInc

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Neurogenesis, Spermatogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiQ02548.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Paired box protein Pax-5
    Alternative name(s):
    B-cell-specific transcription factor
    Short name:
    BSAP
    Gene namesi
    Name:PAX5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:8619. PAX5.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving PAX5 is a cause of acute lymphoblastic leukemia. Translocation t(9;18)(p13;q11.2) with ZNF521. Translocation t(9;3)(p13;p14.1) with FOXP1. Translocation t(9;12)(p13;p13) with ETV6.
    Leukemia, acute lymphoblastic, 3 (ALL3) [MIM:613065]: A subtype of acute leukemia, a cancer of the white blood cells. Acute lymphoblastic anemia is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphonodes.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti183 – 1831G → S in ALL3; confers susceptibility to ALL3; reduced transcription factor activity. 1 Publication
    VAR_070682

    Keywords - Diseasei

    Disease mutation, Proto-oncogene

    Organism-specific databases

    MIMi613065. phenotype.
    Orphaneti99860. Precursor B-cell acute lymphoblastic leukemia.
    PharmGKBiPA32959.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 391391Paired box protein Pax-5PRO_0000050183Add
    BLAST

    Post-translational modificationi

    O-glycosylated.Curated

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ02548.
    PaxDbiQ02548.
    PRIDEiQ02548.

    PTM databases

    PhosphoSiteiQ02548.

    Expressioni

    Developmental stagei

    Expressed at early B-cell differentiation, in the developing CNS and in adult testis.

    Gene expression databases

    ArrayExpressiQ02548.
    BgeeiQ02548.
    CleanExiHS_PAX5.
    GenevestigatoriQ02548.

    Organism-specific databases

    HPAiCAB026269.
    CAB026869.

    Interactioni

    Subunit structurei

    Interacts with DAXX By similarity. Binds DNA as a monomer. Binds TLE4. Interacts with ETS1, altering its DNA-binding properties.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    KMT2AQ031642EBI-296331,EBI-2610266

    Protein-protein interaction databases

    BioGridi111113. 8 interactions.
    IntActiQ02548. 4 interactions.
    STRINGi9606.ENSP00000350844.

    Structurei

    Secondary structure

    1
    391
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi35 – 4612
    Helixi51 – 588
    Helixi62 – 7514
    Beta strandi89 – 913
    Helixi93 – 10513
    Helixi111 – 12010
    Turni126 – 1283
    Helixi132 – 1409

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1K78X-ray2.25A/E/I1-149[»]
    1MDMX-ray2.80A1-149[»]
    ProteinModelPortaliQ02548.
    SMRiQ02548. Positions 19-142, 222-281.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ02548.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini16 – 142127PairedPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 paired domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Paired box

    Phylogenomic databases

    eggNOGiNOG326044.
    HOGENOMiHOG000230938.
    HOVERGENiHBG009115.
    InParanoidiQ02548.
    KOiK09383.
    OMAiIXIQESP.
    OrthoDBiEOG7WT431.
    PhylomeDBiQ02548.
    TreeFamiTF315397.

    Family and domain databases

    Gene3Di1.10.10.10. 2 hits.
    InterProiIPR009057. Homeodomain-like.
    IPR001523. Paired_dom.
    IPR022130. Pax2_C.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view]
    PfamiPF00292. PAX. 1 hit.
    PF12403. Pax2_C. 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]

    Sequences (11)i

    Sequence statusi: Complete.

    This entry describes 11 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q02548-1) [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

    MDLEKNYPTP RTSRTGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR    50
    PCDISRQLRV SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVEKIA 100
    EYKRQNPTMF AWEIRDRLLA ERVCDNDTVP SVSSINRIIR TKVQQPPNQP 150
    VPASSHSIVS TGSVTQVSSV STDSAGSSYS ISGILGITSP SADTNKRKRD 200
    EGIQESPVPN GHSLPGRDFL RKQMRGDLFT QQQLEVLDRV FERQHYSDIF 250
    TTTEPIKPEQ TTEYSAMASL AGGLDDMKAN LASPTPADIG SSVPGPQSYP 300
    IVTGRDLAST TLPGYPPHVP PAGQGSYSAP TLTGMVPGSE FSGSPYSHPQ 350
    YSSYNDSWRF PNPGLLGSPY YYSAAARGAA PPAAATAYDR H 391
    Length:391
    Mass (Da):42,149
    Last modified:October 1, 1993 - v1
    Checksum:iDB37E6EACD9F993A
    GO
    Isoform 2 (identifier: Q02548-2) [UniParc]FASTAAdd to Basket

    Also known as: delta9

    The sequence of this isoform differs from the canonical sequence as follows:
         338-366: Missing.

    Show »
    Length:362
    Mass (Da):38,890
    Checksum:i6570B3D758CC4DFC
    GO
    Isoform 3 (identifier: Q02548-3) [UniParc]FASTAAdd to Basket

    Also known as: delta78

    The sequence of this isoform differs from the canonical sequence as follows:
         261-282: TTEYSAMASLAGGLDDMKANLA → GVSFPGVPTATLSIPRTTTPGG
         286-315: PADIGSSVPGPQSYPIVTGRDLASTTLPGY → RGCLAPPIIIALPPEE
         319-391: VPPAGQGSYS...PAAATAYDRH → LQPPLPMTVTDPWSQAGTKH

    Show »
    Length:324
    Mass (Da):35,281
    Checksum:iF6A0BFF245B8B965
    GO
    Isoform 4 (identifier: Q02548-4) [UniParc]FASTAAdd to Basket

    Also known as: delta789

    The sequence of this isoform differs from the canonical sequence as follows:
         261-315: TTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPIVTGRDLASTTLPGY → APPIIIALPPEE
         319-391: VPPAGQGSYS...PAAATAYDRH → LQPPLPMTVTDPWSQAGTKH

    Show »
    Length:295
    Mass (Da):32,471
    Checksum:iD5EEA5066EE14214
    GO
    Isoform 5 (identifier: Q02548-5) [UniParc]FASTAAdd to Basket

    Also known as: delta8

    The sequence of this isoform differs from the canonical sequence as follows:
         261-391: TTEYSAMASL...PAAATAYDRH → AVTWRARPSPGTLHTSPPLDRAATQHRR

    Show »
    Length:288
    Mass (Da):31,830
    Checksum:i38E17187FCE243A4
    GO
    Isoform 6 (identifier: Q02548-6) [UniParc]FASTAAdd to Basket

    Also known as: delta7

    The sequence of this isoform differs from the canonical sequence as follows:
         305-349: RDLASTTLPGYPPHVPPAGQGSYSAPTLTGMVPGSEFSGSPYSHP → SEFSGSPYSHP

    Show »
    Length:357
    Mass (Da):38,773
    Checksum:iD9002C0265083C8D
    GO
    Isoform 7 (identifier: Q02548-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         304-366: Missing.

    Show »
    Length:328
    Mass (Da):35,514
    Checksum:i92D63742F8C95496
    GO
    Isoform 8 (identifier: Q02548-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         159-201: Missing.

    Show »
    Length:348
    Mass (Da):37,834
    Checksum:i4A0BED6DADED06FC
    GO
    Isoform 9 (identifier: Q02548-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         159-201: Missing.
         338-366: Missing.

    Show »
    Length:319
    Mass (Da):34,574
    Checksum:i9478E6354E6E9B7B
    GO
    Isoform 10 (identifier: Q02548-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         71-136: Missing.
         304-337: Missing.

    Show »
    Length:291
    Mass (Da):31,381
    Checksum:i9DA0FDAAE882FD03
    GO
    Isoform 11 (identifier: Q02548-11) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         261-307: TTEYSAMASL...SYPIVTGRDL → WCPVLMRQYL...LDRAATQHRR
         308-391: Missing.

    Show »
    Length:307
    Mass (Da):34,132
    Checksum:i25F6F696F292DC04
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti99 – 991I → F in AAC35286. (PubMed:9742255)Curated
    Sequence conflicti141 – 1433TKV → PKL in AAC35286. (PubMed:9742255)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti24 – 241G → R.1 Publication
    VAR_070672
    Natural varianti26 – 261V → G.1 Publication
    VAR_070673
    Natural varianti34 – 341P → Q.1 Publication
    VAR_070674
    Natural varianti53 – 531D → V.1 Publication
    VAR_070675
    Natural varianti59 – 591R → G.1 Publication
    VAR_070676
    Natural varianti66 – 661S → N.1 Publication
    VAR_070677
    Natural varianti75 – 751T → R.1 Publication
    VAR_070678
    Natural varianti80 – 801P → R.1 Publication
    VAR_070679
    Natural varianti139 – 1391I → T.1 Publication
    VAR_070680
    Natural varianti151 – 1511V → I.1 Publication
    VAR_070681
    Natural varianti183 – 1831G → S in ALL3; confers susceptibility to ALL3; reduced transcription factor activity. 1 Publication
    VAR_070682
    Natural varianti183 – 1831G → V.1 Publication
    VAR_070683
    Natural varianti213 – 2131S → L.1 Publication
    VAR_070684
    Natural varianti301 – 3011I → T.1 Publication
    VAR_070685
    Natural varianti322 – 3221A → T.
    Corresponds to variant rs34810717 [ dbSNP | Ensembl ].
    VAR_034370
    Natural varianti338 – 3381G → V.1 Publication
    VAR_070686

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei71 – 13666Missing in isoform 10. 1 PublicationVSP_047827Add
    BLAST
    Alternative sequencei159 – 20143Missing in isoform 8 and isoform 9. 1 PublicationVSP_047828Add
    BLAST
    Alternative sequencei261 – 391131TTEYS…AYDRH → AVTWRARPSPGTLHTSPPLD RAATQHRR in isoform 5. 1 PublicationVSP_044115Add
    BLAST
    Alternative sequencei261 – 31555TTEYS…TLPGY → APPIIIALPPEE in isoform 4. 1 PublicationVSP_044116Add
    BLAST
    Alternative sequencei261 – 30747TTEYS…TGRDL → WCPVLMRQYLVQPQAVLFQA VTWRARPSPGTLHTSPPLDR AATQHRR in isoform 11. 1 PublicationVSP_047829Add
    BLAST
    Alternative sequencei261 – 28222TTEYS…KANLA → GVSFPGVPTATLSIPRTTTP GG in isoform 3. 1 PublicationVSP_044117Add
    BLAST
    Alternative sequencei286 – 31530PADIG…TLPGY → RGCLAPPIIIALPPEE in isoform 3. 1 PublicationVSP_044118Add
    BLAST
    Alternative sequencei304 – 36663Missing in isoform 7. 1 PublicationVSP_047830Add
    BLAST
    Alternative sequencei304 – 33734Missing in isoform 10. 1 PublicationVSP_047831Add
    BLAST
    Alternative sequencei305 – 34945RDLAS…PYSHP → SEFSGSPYSHP in isoform 6. 1 PublicationVSP_044119Add
    BLAST
    Alternative sequencei308 – 39184Missing in isoform 11. 1 PublicationVSP_047832Add
    BLAST
    Alternative sequencei319 – 39173VPPAG…AYDRH → LQPPLPMTVTDPWSQAGTKH in isoform 3 and isoform 4. 1 PublicationVSP_044120Add
    BLAST
    Alternative sequencei338 – 36629Missing in isoform 2 and isoform 9. 2 PublicationsVSP_044121Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M96944 mRNA. Translation: AAA58397.1.
    AY463952 mRNA. Translation: AAR27590.1.
    AY463953 mRNA. Translation: AAR27591.1.
    AY463954 mRNA. Translation: AAR27592.1.
    AY463955 mRNA. Translation: AAR27593.1.
    AY463956 mRNA. Translation: AAR27594.1.
    AY463957 mRNA. Translation: AAR27595.1.
    FJ626421 mRNA. Translation: ACM91604.1.
    FJ626422 mRNA. Translation: ACM91605.1.
    FJ626423 mRNA. Translation: ACM91606.1.
    FJ626424 mRNA. Translation: ACM91607.1.
    FJ626425 mRNA. Translation: ACM91608.1.
    EF064717 Genomic DNA. Translation: ABK41900.1.
    AL161781, AL450267 Genomic DNA. Translation: CAH72137.1.
    AL450267, AL161781 Genomic DNA. Translation: CAH72740.1.
    CH471071 Genomic DNA. Translation: EAW58294.1.
    CH471071 Genomic DNA. Translation: EAW58295.1.
    CH471071 Genomic DNA. Translation: EAW58296.1.
    CH471071 Genomic DNA. Translation: EAW58297.1.
    CH471071 Genomic DNA. Translation: EAW58298.1.
    CH471071 Genomic DNA. Translation: EAW58299.1.
    DQ841178 mRNA. Translation: ABI30005.1. Different termination.
    DQ845345 mRNA. Translation: ABI33104.1. Different termination.
    DQ845346 mRNA. Translation: ABI33105.1. Different termination.
    AF080573 mRNA. Translation: AAC35286.1.
    CCDSiCCDS65041.1. [Q02548-10]
    CCDS65042.1. [Q02548-9]
    CCDS65043.1. [Q02548-8]
    CCDS65044.1. [Q02548-4]
    CCDS65045.1. [Q02548-3]
    CCDS65046.1. [Q02548-7]
    CCDS65047.1. [Q02548-6]
    CCDS65048.1. [Q02548-2]
    CCDS6607.1. [Q02548-1]
    PIRiA44063.
    RefSeqiNP_001267476.1. NM_001280547.1. [Q02548-6]
    NP_001267477.1. NM_001280548.1. [Q02548-2]
    NP_001267478.1. NM_001280549.1.
    NP_001267479.1. NM_001280550.1.
    NP_001267481.1. NM_001280552.1. [Q02548-7]
    NP_001267482.1. NM_001280553.1. [Q02548-9]
    NP_001267483.1. NM_001280554.1. [Q02548-8]
    NP_001267484.1. NM_001280555.1. [Q02548-10]
    NP_001267485.1. NM_001280556.1.
    NP_057953.1. NM_016734.2. [Q02548-1]
    UniGeneiHs.654464.

    Genome annotation databases

    EnsembliENST00000358127; ENSP00000350844; ENSG00000196092. [Q02548-1]
    ENST00000377840; ENSP00000367071; ENSG00000196092. [Q02548-5]
    ENST00000377847; ENSP00000367078; ENSG00000196092. [Q02548-7]
    ENST00000377852; ENSP00000367083; ENSG00000196092. [Q02548-6]
    ENST00000377853; ENSP00000367084; ENSG00000196092. [Q02548-2]
    ENST00000414447; ENSP00000412188; ENSG00000196092. [Q02548-8]
    ENST00000446742; ENSP00000404687; ENSG00000196092. [Q02548-10]
    ENST00000520281; ENSP00000430773; ENSG00000196092. [Q02548-9]
    ENST00000523493; ENSP00000431038; ENSG00000196092. [Q02548-11]
    GeneIDi5079.
    KEGGihsa:5079.
    UCSCiuc003zzo.1. human. [Q02548-1]
    uc010mlo.1. human. [Q02548-6]
    uc010mlp.1. human. [Q02548-2]

    Polymorphism databases

    DMDMi417449.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, 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
    M96944 mRNA. Translation: AAA58397.1 .
    AY463952 mRNA. Translation: AAR27590.1 .
    AY463953 mRNA. Translation: AAR27591.1 .
    AY463954 mRNA. Translation: AAR27592.1 .
    AY463955 mRNA. Translation: AAR27593.1 .
    AY463956 mRNA. Translation: AAR27594.1 .
    AY463957 mRNA. Translation: AAR27595.1 .
    FJ626421 mRNA. Translation: ACM91604.1 .
    FJ626422 mRNA. Translation: ACM91605.1 .
    FJ626423 mRNA. Translation: ACM91606.1 .
    FJ626424 mRNA. Translation: ACM91607.1 .
    FJ626425 mRNA. Translation: ACM91608.1 .
    EF064717 Genomic DNA. Translation: ABK41900.1 .
    AL161781 , AL450267 Genomic DNA. Translation: CAH72137.1 .
    AL450267 , AL161781 Genomic DNA. Translation: CAH72740.1 .
    CH471071 Genomic DNA. Translation: EAW58294.1 .
    CH471071 Genomic DNA. Translation: EAW58295.1 .
    CH471071 Genomic DNA. Translation: EAW58296.1 .
    CH471071 Genomic DNA. Translation: EAW58297.1 .
    CH471071 Genomic DNA. Translation: EAW58298.1 .
    CH471071 Genomic DNA. Translation: EAW58299.1 .
    DQ841178 mRNA. Translation: ABI30005.1 . Different termination.
    DQ845345 mRNA. Translation: ABI33104.1 . Different termination.
    DQ845346 mRNA. Translation: ABI33105.1 . Different termination.
    AF080573 mRNA. Translation: AAC35286.1 .
    CCDSi CCDS65041.1. [Q02548-10 ]
    CCDS65042.1. [Q02548-9 ]
    CCDS65043.1. [Q02548-8 ]
    CCDS65044.1. [Q02548-4 ]
    CCDS65045.1. [Q02548-3 ]
    CCDS65046.1. [Q02548-7 ]
    CCDS65047.1. [Q02548-6 ]
    CCDS65048.1. [Q02548-2 ]
    CCDS6607.1. [Q02548-1 ]
    PIRi A44063.
    RefSeqi NP_001267476.1. NM_001280547.1. [Q02548-6 ]
    NP_001267477.1. NM_001280548.1. [Q02548-2 ]
    NP_001267478.1. NM_001280549.1.
    NP_001267479.1. NM_001280550.1.
    NP_001267481.1. NM_001280552.1. [Q02548-7 ]
    NP_001267482.1. NM_001280553.1. [Q02548-9 ]
    NP_001267483.1. NM_001280554.1. [Q02548-8 ]
    NP_001267484.1. NM_001280555.1. [Q02548-10 ]
    NP_001267485.1. NM_001280556.1.
    NP_057953.1. NM_016734.2. [Q02548-1 ]
    UniGenei Hs.654464.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1K78 X-ray 2.25 A/E/I 1-149 [» ]
    1MDM X-ray 2.80 A 1-149 [» ]
    ProteinModelPortali Q02548.
    SMRi Q02548. Positions 19-142, 222-281.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111113. 8 interactions.
    IntActi Q02548. 4 interactions.
    STRINGi 9606.ENSP00000350844.

    PTM databases

    PhosphoSitei Q02548.

    Polymorphism databases

    DMDMi 417449.

    Proteomic databases

    MaxQBi Q02548.
    PaxDbi Q02548.
    PRIDEi Q02548.

    Protocols and materials databases

    DNASUi 5079.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000358127 ; ENSP00000350844 ; ENSG00000196092 . [Q02548-1 ]
    ENST00000377840 ; ENSP00000367071 ; ENSG00000196092 . [Q02548-5 ]
    ENST00000377847 ; ENSP00000367078 ; ENSG00000196092 . [Q02548-7 ]
    ENST00000377852 ; ENSP00000367083 ; ENSG00000196092 . [Q02548-6 ]
    ENST00000377853 ; ENSP00000367084 ; ENSG00000196092 . [Q02548-2 ]
    ENST00000414447 ; ENSP00000412188 ; ENSG00000196092 . [Q02548-8 ]
    ENST00000446742 ; ENSP00000404687 ; ENSG00000196092 . [Q02548-10 ]
    ENST00000520281 ; ENSP00000430773 ; ENSG00000196092 . [Q02548-9 ]
    ENST00000523493 ; ENSP00000431038 ; ENSG00000196092 . [Q02548-11 ]
    GeneIDi 5079.
    KEGGi hsa:5079.
    UCSCi uc003zzo.1. human. [Q02548-1 ]
    uc010mlo.1. human. [Q02548-6 ]
    uc010mlp.1. human. [Q02548-2 ]

    Organism-specific databases

    CTDi 5079.
    GeneCardsi GC09M036828.
    HGNCi HGNC:8619. PAX5.
    HPAi CAB026269.
    CAB026869.
    MIMi 167414. gene.
    613065. phenotype.
    neXtProti NX_Q02548.
    Orphaneti 99860. Precursor B-cell acute lymphoblastic leukemia.
    PharmGKBi PA32959.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326044.
    HOGENOMi HOG000230938.
    HOVERGENi HBG009115.
    InParanoidi Q02548.
    KOi K09383.
    OMAi IXIQESP.
    OrthoDBi EOG7WT431.
    PhylomeDBi Q02548.
    TreeFami TF315397.

    Enzyme and pathway databases

    SignaLinki Q02548.

    Miscellaneous databases

    ChiTaRSi PAX5. human.
    EvolutionaryTracei Q02548.
    GeneWikii PAX5.
    GenomeRNAii 5079.
    NextBioi 19592.
    PROi Q02548.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q02548.
    Bgeei Q02548.
    CleanExi HS_PAX5.
    Genevestigatori Q02548.

    Family and domain databases

    Gene3Di 1.10.10.10. 2 hits.
    InterProi IPR009057. Homeodomain-like.
    IPR001523. Paired_dom.
    IPR022130. Pax2_C.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    Pfami PF00292. PAX. 1 hit.
    PF12403. Pax2_C. 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. "Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis."
      Adams B., Doerfler P., Aguzzi A., Kozmik Z., Urbanek P., Maurer-Fogy I., Busslinger M.
      Genes Dev. 6:1589-1607(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Human Pax-5 C-terminal isoforms possess distinct transactivation properties and are differentially modulated in normal and malignant B cells."
      Robichaud G.A., Nardini M., Laflamme M., Cuperlovic-Culf M., Ouellette R.J.
      J. Biol. Chem. 279:49956-49963(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5 AND 6), ALTERNATIVE SPLICING.
    3. "Multiple isoforms of PAX5 are expressed in both lymphomas and normal B-cells."
      Arseneau J.R., Laflamme M., Lewis S.M., Maicas E., Ouellette R.J.
      Br. J. Haematol. 147:328-338(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 7; 8; 9; 10 AND 11).
    4. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-333 (ISOFORM 1), CHROMOSOMAL TRANSLOCATION WITH ZNF521, CHROMOSOMAL TRANSLOCATION WITH FOXP1, CHROMOSOMAL TRANSLOCATION WITH ETV6.
    8. "Isolation of genes negatively or positively co-expressed with human recombination activating gene 1 (RAG1) by differential display PCR (DD RT-PCR)."
      Verkoczy L.K., Berinstein N.L.
      Nucleic Acids Res. 26:4497-4507(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 62-197.
    9. "Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family."
      Eberhard D., Jimenez G., Heavey B., Busslinger M.
      EMBO J. 19:2292-2303(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TLE4.
    10. "Structural studies of Ets-1/Pax5 complex formation on DNA."
      Garvie C.W., Hagman J., Wolberger C.
      Mol. Cell 8:1267-1276(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.25 ANGSTROMS) OF 1-149 IN COMPLEX WITH MOUSE ETS1 AND DNA.
    11. "A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia."
      Shah S., Schrader K.A., Waanders E., Timms A.E., Vijai J., Miething C., Wechsler J., Yang J., Hayes J., Klein R.J., Zhang J., Wei L., Wu G., Rusch M., Nagahawatte P., Ma J., Chen S.C., Song G.
      , Cheng J., Meyers P., Bhojwani D., Jhanwar S., Maslak P., Fleisher M., Littman J., Offit L., Rau-Murthy R., Fleischut M.H., Corines M., Murali R., Gao X., Manschreck C., Kitzing T., Murty V.V., Raimondi S.C., Kuiper R.P., Simons A., Schiffman J.D., Onel K., Plon S.E., Wheeler D.A., Ritter D., Ziegler D.S., Tucker K., Sutton R., Chenevix-Trench G., Li J., Huntsman D.G., Hansford S., Senz J., Walsh T., Lee M., Hahn C.N., Roberts K.G., King M.C., Lo S.M., Levine R.L., Viale A., Socci N.D., Nathanson K.L., Scott H.S., Daly M., Lipkin S.M., Lowe S.W., Downing J.R., Altshuler D., Sandlund J.T., Horwitz M.S., Mullighan C.G., Offit K.
      Nat. Genet. 45:1226-1231(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALL3 SER-183, VARIANTS ARG-24; GLY-26; GLN-34; VAL-53; GLY-59; ASN-66; ARG-75; ARG-80; THR-139; ILE-151; VAL-183; LEU-213; THR-301 AND VAL-338, CHARACTERIZATION OF VARIANT ALL3 SER-183.

    Entry informationi

    Entry nameiPAX5_HUMAN
    AccessioniPrimary (citable) accession number: Q02548
    Secondary accession number(s): A3QVP6
    , A3QVP7, A3QVP8, C0KTF6, C0KTF7, C0KTF8, C0KTF9, C0KTG0, O75933, Q5SFM2, Q6S728, Q6S729, Q6S730, Q6S731, Q6S732
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1993
    Last sequence update: October 1, 1993
    Last modified: October 1, 2014
    This is version 136 of the entry and version 1 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3