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P23760

- PAX3_HUMAN

UniProt

P23760 - PAX3_HUMAN

Protein

Paired box protein Pax-3

Gene

PAX3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 168 (01 Oct 2014)
      Sequence version 2 (01 Nov 1995)
      Previous versions | rss
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    Functioni

    Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei319 – 3202Breakpoint for translocation to form PAX3-NCOA1 oncogene

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi219 – 27860HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. protein binding Source: IntAct
    3. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
    4. sequence-specific DNA binding Source: MGI
    5. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. apoptotic process Source: ProtInc
    2. cell proliferation Source: Ensembl
    3. developmental pigmentation Source: Ensembl
    4. heart development Source: Ensembl
    5. mammary gland specification Source: Ensembl
    6. muscle organ development Source: UniProtKB-KW
    7. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    8. neural crest cell migration Source: Ensembl
    9. neural tube closure Source: Ensembl
    10. neuron fate commitment Source: Ensembl
    11. organ morphogenesis Source: ProtInc
    12. positive regulation of cell proliferation Source: Ensembl
    13. positive regulation of transcription, DNA-templated Source: MGI
    14. positive regulation of transcription from RNA polymerase II promoter Source: MGI
    15. regulation of somitogenesis Source: Ensembl
    16. sensory perception of sound Source: ProtInc
    17. spinal cord association neuron differentiation Source: Ensembl
    18. transcription from RNA polymerase II promoter Source: ProtInc

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Myogenesis, Neurogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiP23760.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Paired box protein Pax-3
    Alternative name(s):
    HuP2
    Gene namesi
    Name:PAX3
    Synonyms:HUP2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:8617. PAX3.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Waardenburg syndrome 1 (WS1) [MIM:193500]: WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients.17 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451F → L in WS1. 1 Publication
    VAR_003790
    Natural varianti48 – 481G → R in WS1. 1 Publication
    VAR_017533
    Natural varianti50 – 501P → L in WS1; important hearing loss. 1 Publication
    VAR_003793
    Natural varianti56 – 561R → L in WS1; associated with meningomyelocele. 1 Publication
    VAR_003794
    Natural varianti59 – 591I → F in WS1. 1 Publication
    VAR_003795
    Natural varianti59 – 591I → N in WS1. 1 Publication
    VAR_003796
    Natural varianti60 – 601V → M in WS1. 2 Publications
    VAR_003797
    Natural varianti62 – 621M → V in WS1. 2 Publications
    VAR_003798
    Natural varianti63 – 675Missing in WS1. 1 Publication
    VAR_003799
    Natural varianti73 – 731S → L in WS1. 1 Publication
    VAR_013640
    Natural varianti78 – 781V → M in WS1. 1 Publication
    VAR_017534
    Natural varianti81 – 811G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 Publications
    VAR_003800
    Natural varianti85 – 851K → E in WS1. 1 Publication
    VAR_003802
    Natural varianti99 – 991G → D in WS1. 2 Publications
    VAR_003803
    Natural varianti238 – 2381F → S in WS1. 1 Publication
    VAR_003804
    Natural varianti265 – 2651V → F in WS1. 1 Publication
    VAR_003805
    Natural varianti266 – 2661W → C in WS1. 1 Publication
    VAR_017536
    Natural varianti270 – 2701R → C in WS1 and WS3. 3 Publications
    VAR_013619
    Natural varianti271 – 2711R → C in WS1. 1 Publication
    VAR_017537
    Natural varianti271 – 2711R → G in WS1. 1 Publication
    VAR_003806
    Natural varianti271 – 2711R → H in WS1; associated with Lys-273 in one family. 2 Publications
    VAR_017538
    Natural varianti391 – 3911Q → H in WS1. 1 Publication
    VAR_013641
    Waardenburg syndrome 3 (WS3) [MIM:148820]: WS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti47 – 471N → H in WS3. 1 Publication
    VAR_003791
    Natural varianti84 – 841S → F in WS3. 1 Publication
    VAR_003801
    Natural varianti90 – 901Y → H in WS3. 1 Publication
    Corresponds to variant rs28939096 [ dbSNP | Ensembl ].
    VAR_017535
    Natural varianti270 – 2701R → C in WS1 and WS3. 3 Publications
    VAR_013619
    Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]: Thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti47 – 471N → K in CDHS. 1 Publication
    VAR_003792
    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 PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional activator.
    A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all malignancies in children.

    Keywords - Diseasei

    Deafness, Disease mutation, Proto-oncogene, Waardenburg syndrome

    Organism-specific databases

    MIMi122880. phenotype.
    148820. phenotype.
    193500. phenotype.
    268220. phenotype.
    Orphaneti99756. Alveolar rhabdomyosarcoma.
    1529. Craniofacial-deafness-hand syndrome.
    894. Waardenburg syndrome type 1.
    896. Waardenburg syndrome type 3.
    PharmGKBiPA32957.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 479479Paired box protein Pax-3PRO_0000050178Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei201 – 2011Phosphoserine1 Publication
    Modified residuei205 – 2051Phosphoserine1 Publication
    Modified residuei209 – 2091Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP23760.
    PaxDbiP23760.
    PRIDEiP23760.

    PTM databases

    PhosphoSiteiP23760.

    Expressioni

    Gene expression databases

    ArrayExpressiP23760.
    BgeeiP23760.
    CleanExiHS_PAX3.
    GenevestigatoriP23760.

    Organism-specific databases

    HPAiHPA063659.

    Interactioni

    Subunit structurei

    Can bind to DNA as a homodimer or a heterodimer with PAX7. Interacts with PAXBP1; the interaction links PAX3 to a WDR5-containing histone methyltransferase complex By similarity. Interacts with DAXX.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    POU3F2P202652EBI-1167564,EBI-1167176
    SOX10P566932EBI-1167564,EBI-1167533

    Protein-protein interaction databases

    BioGridi111111. 18 interactions.
    IntActiP23760. 7 interactions.
    MINTiMINT-202884.
    STRINGi9606.ENSP00000375921.

    Structurei

    Secondary structure

    1
    479
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi228 – 24013
    Helixi246 – 25611
    Helixi260 – 27617

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3CMYX-ray1.95A219-278[»]
    ProteinModelPortaliP23760.
    SMRiP23760. Positions 35-158, 219-277.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP23760.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini34 – 161128PairedPROSITE-ProRule annotationAdd
    BLAST

    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.
    KOiK09381.
    OMAiVHQSTLP.
    OrthoDBiEOG7WT431.
    PhylomeDBiP23760.
    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 (8)i

    Sequence statusi: Complete.

    This entry describes 8 isoformsi produced by alternative splicing. Align

    Isoform Pax3 (identifier: P23760-1) [UniParc]FASTAAdd to Basket

    Also known as: Pax3C

    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

    MTTLAGAVPR MMRPGPGQNY PRSGFPLEVS TPLGQGRVNQ LGGVFINGRP    50
    LPNHIRHKIV EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA 100
    IGGSKPKQVT TPDVEKKIEE YKRENPGMFS WEIRDKLLKD AVCDRNTVPS 150
    VSSISRILRS KFGKGEEEEA DLERKEAEES EKKAKHSIDG ILSERASAPQ 200
    SDEGSDIDSE PDLPLKRKQR RSRTTFTAEQ LEELERAFER THYPDIYTRE 250
    ELAQRAKLTE ARVQVWFSNR RARWRKQAGA NQLMAFNHLI PGGFPPTAMP 300
    TLPTYQLSET SYQPTSIPQA VSDPSSTVHR PQPLPPSTVH QSTIPSNPDS 350
    SSAYCLPSTR HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVMGLLTNHG 400
    GVPHQPQTDY ALSPLTGGLE PTTTVSASCS QRLDHMKSLD SLPTSQSYCP 450
    PTYSTTGYSM DPVTGYQYGQ YGQSKPWTF 479
    Length:479
    Mass (Da):52,968
    Last modified:November 1, 1995 - v2
    Checksum:i8AFCA674E3ACB4FE
    GO
    Isoform Pax3A (identifier: P23760-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         196-215: ASAPQSDEGSDIDSEPDLPL → GKRWRLGRRTCWVTWRASAS
         216-479: Missing.

    Show »
    Length:215
    Mass (Da):24,136
    Checksum:i3D91C2A5ED028A3A
    GO
    Isoform Pax3B (identifier: P23760-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         196-206: ASAPQSDEGSD → GKALVSGVSSH
         207-479: Missing.

    Show »
    Length:206
    Mass (Da):22,743
    Checksum:i01F6B51388572EE5
    GO
    Isoform Pax3G (identifier: P23760-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         393-479: MGLLTNHGGV...QYGQSKPWTF → PFIISSQISRK

    Show »
    Length:403
    Mass (Da):44,822
    Checksum:i60AF2F51DA96982B
    GO
    Isoform Pax3H (identifier: P23760-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         393-479: MGLLTNHGGV...QYGQSKPWTF → PFIISSQISLGFKSF

    Show »
    Length:407
    Mass (Da):45,217
    Checksum:iC8F3DD809BFC0F51
    GO
    Isoform 6 (identifier: P23760-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         108-108: Missing.
         475-479: KPWTF → AFHYLKPDIA

    Note: No experimental confirmation available.

    Show »
    Length:483
    Mass (Da):53,336
    Checksum:i31DAA0369ECC4610
    GO
    Isoform 7 (identifier: P23760-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         475-479: KPWTF → AFHYLKPDIA

    Show »
    Length:484
    Mass (Da):53,464
    Checksum:iFA56CD0432F41644
    GO
    Isoform Pax3E (identifier: P23760-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         475-479: KPWTF → AFHYLKPDIAWFQILLNTFDKSSGEEEDLEQ

    Show »
    Length:505
    Mass (Da):55,975
    Checksum:iE06973C26D9803C3
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti358 – 3581S → R in AAP13872. (PubMed:14639621)Curated
    Sequence conflicti358 – 3581S → R in AAP13873. (PubMed:14639621)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451F → L in WS1. 1 Publication
    VAR_003790
    Natural varianti47 – 471N → H in WS3. 1 Publication
    VAR_003791
    Natural varianti47 – 471N → K in CDHS. 1 Publication
    VAR_003792
    Natural varianti48 – 481G → R in WS1. 1 Publication
    VAR_017533
    Natural varianti50 – 501P → L in WS1; important hearing loss. 1 Publication
    VAR_003793
    Natural varianti56 – 561R → L in WS1; associated with meningomyelocele. 1 Publication
    VAR_003794
    Natural varianti59 – 591I → F in WS1. 1 Publication
    VAR_003795
    Natural varianti59 – 591I → N in WS1. 1 Publication
    VAR_003796
    Natural varianti60 – 601V → M in WS1. 2 Publications
    VAR_003797
    Natural varianti62 – 621M → V in WS1. 2 Publications
    VAR_003798
    Natural varianti63 – 675Missing in WS1. 1 Publication
    VAR_003799
    Natural varianti73 – 731S → L in WS1. 1 Publication
    VAR_013640
    Natural varianti78 – 781V → M in WS1. 1 Publication
    VAR_017534
    Natural varianti81 – 811G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 Publications
    VAR_003800
    Natural varianti84 – 841S → F in WS3. 1 Publication
    VAR_003801
    Natural varianti85 – 851K → E in WS1. 1 Publication
    VAR_003802
    Natural varianti90 – 901Y → H in WS3. 1 Publication
    Corresponds to variant rs28939096 [ dbSNP | Ensembl ].
    VAR_017535
    Natural varianti99 – 991G → D in WS1. 2 Publications
    VAR_003803
    Natural varianti238 – 2381F → S in WS1. 1 Publication
    VAR_003804
    Natural varianti265 – 2651V → F in WS1. 1 Publication
    VAR_003805
    Natural varianti266 – 2661W → C in WS1. 1 Publication
    VAR_017536
    Natural varianti270 – 2701R → C in WS1 and WS3. 3 Publications
    VAR_013619
    Natural varianti271 – 2711R → C in WS1. 1 Publication
    VAR_017537
    Natural varianti271 – 2711R → G in WS1. 1 Publication
    VAR_003806
    Natural varianti271 – 2711R → H in WS1; associated with Lys-273 in one family. 2 Publications
    VAR_017538
    Natural varianti273 – 2731R → K Associated with His-271 in one Waardenburg syndrome type I family. 1 Publication
    VAR_017539
    Natural varianti315 – 3151T → K.4 Publications
    Corresponds to variant rs2234675 [ dbSNP | Ensembl ].
    VAR_003807
    Natural varianti391 – 3911Q → H in WS1. 1 Publication
    VAR_013641

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei108 – 1081Missing in isoform 6. 1 PublicationVSP_043634
    Alternative sequencei196 – 21520ASAPQ…PDLPL → GKRWRLGRRTCWVTWRASAS in isoform Pax3A. 1 PublicationVSP_002355Add
    BLAST
    Alternative sequencei196 – 20611ASAPQSDEGSD → GKALVSGVSSH in isoform Pax3B. 2 PublicationsVSP_002357Add
    BLAST
    Alternative sequencei207 – 479273Missing in isoform Pax3B. 2 PublicationsVSP_002358Add
    BLAST
    Alternative sequencei216 – 479264Missing in isoform Pax3A. 1 PublicationVSP_002356Add
    BLAST
    Alternative sequencei393 – 47987MGLLT…KPWTF → PFIISSQISRK in isoform Pax3G. 1 PublicationVSP_042004Add
    BLAST
    Alternative sequencei393 – 47987MGLLT…KPWTF → PFIISSQISLGFKSF in isoform Pax3H. 1 PublicationVSP_042005Add
    BLAST
    Alternative sequencei475 – 4795KPWTF → AFHYLKPDIA in isoform 6 and isoform 7. 2 PublicationsVSP_043635
    Alternative sequencei475 – 4795KPWTF → AFHYLKPDIAWFQILLNTFD KSSGEEEDLEQ in isoform Pax3E. CuratedVSP_044915

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY251279 mRNA. Translation: AAP13872.1.
    AY251280 mRNA. Translation: AAP13873.1.
    AK291278 mRNA. Translation: BAF83967.1.
    AC010980 Genomic DNA. Translation: AAY14900.1.
    AC012591 Genomic DNA. No translation available.
    CH471063 Genomic DNA. Translation: EAW70789.1.
    CH471063 Genomic DNA. Translation: EAW70791.1.
    CH471063 Genomic DNA. Translation: EAW70794.1.
    CH471063 Genomic DNA. Translation: EAW70796.1.
    BC063547 mRNA. Translation: AAH63547.1.
    BC101299 mRNA. Translation: AAI01300.1.
    BC101300 mRNA. Translation: AAI01301.1.
    BC101301 mRNA. Translation: AAI01302.1.
    BC101302 mRNA. Translation: AAI01303.1.
    BC114363 mRNA. Translation: AAI14364.1.
    U12263 Genomic DNA. Translation: AAA80573.1.
    U12259
    , U12258, U12260, U12262 Genomic DNA. Translation: AAA80574.1.
    X15043, X15252, X15253 Genomic DNA. Translation: CAA33145.1.
    Z29972 Genomic DNA. No translation available.
    Z29973 Genomic DNA. No translation available.
    Z29974 Genomic DNA. No translation available.
    S69369 mRNA. Translation: AAB30167.1.
    S69370 mRNA. Translation: AAB30168.1.
    AY633656 mRNA. Translation: AAT47737.1.
    S83614 Genomic DNA. Translation: AAB21476.1.
    L10614 Genomic DNA. Translation: AAA91849.1.
    CCDSiCCDS2448.1. [P23760-8]
    CCDS2449.1. [P23760-5]
    CCDS2450.1. [P23760-4]
    CCDS2451.1. [P23760-3]
    CCDS42825.1. [P23760-7]
    CCDS42826.1. [P23760-1]
    CCDS46522.1. [P23760-6]
    CCDS46523.1. [P23760-2]
    PIRiI54276.
    I68547.
    S06960.
    RefSeqiNP_000429.2. NM_000438.5. [P23760-2]
    NP_001120838.1. NM_001127366.2. [P23760-6]
    NP_039230.1. NM_013942.4. [P23760-3]
    NP_852122.1. NM_181457.3. [P23760-1]
    NP_852123.1. NM_181458.3. [P23760-7]
    NP_852124.1. NM_181459.3. [P23760-8]
    NP_852125.1. NM_181460.3. [P23760-5]
    NP_852126.1. NM_181461.3. [P23760-4]
    UniGeneiHs.42146.

    Genome annotation databases

    EnsembliENST00000258387; ENSP00000258387; ENSG00000135903. [P23760-3]
    ENST00000336840; ENSP00000338767; ENSG00000135903. [P23760-5]
    ENST00000344493; ENSP00000342092; ENSG00000135903. [P23760-4]
    ENST00000350526; ENSP00000343052; ENSG00000135903. [P23760-1]
    ENST00000392069; ENSP00000375921; ENSG00000135903. [P23760-8]
    ENST00000392070; ENSP00000375922; ENSG00000135903. [P23760-7]
    ENST00000409551; ENSP00000386750; ENSG00000135903. [P23760-6]
    ENST00000409828; ENSP00000386817; ENSG00000135903. [P23760-2]
    GeneIDi5077.
    KEGGihsa:5077.
    UCSCiuc002vmt.2. human.
    uc002vmv.2. human. [P23760-7]
    uc002vmw.2. human. [P23760-5]
    uc002vmx.2. human. [P23760-4]
    uc002vmy.2. human. [P23760-6]
    uc002vmz.2. human. [P23760-3]
    uc002vna.2. human. [P23760-2]
    uc010fwo.3. human. [P23760-1]

    Polymorphism databases

    DMDMi1172022.

    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
    AY251279 mRNA. Translation: AAP13872.1 .
    AY251280 mRNA. Translation: AAP13873.1 .
    AK291278 mRNA. Translation: BAF83967.1 .
    AC010980 Genomic DNA. Translation: AAY14900.1 .
    AC012591 Genomic DNA. No translation available.
    CH471063 Genomic DNA. Translation: EAW70789.1 .
    CH471063 Genomic DNA. Translation: EAW70791.1 .
    CH471063 Genomic DNA. Translation: EAW70794.1 .
    CH471063 Genomic DNA. Translation: EAW70796.1 .
    BC063547 mRNA. Translation: AAH63547.1 .
    BC101299 mRNA. Translation: AAI01300.1 .
    BC101300 mRNA. Translation: AAI01301.1 .
    BC101301 mRNA. Translation: AAI01302.1 .
    BC101302 mRNA. Translation: AAI01303.1 .
    BC114363 mRNA. Translation: AAI14364.1 .
    U12263 Genomic DNA. Translation: AAA80573.1 .
    U12259
    , U12258 , U12260 , U12262 Genomic DNA. Translation: AAA80574.1 .
    X15043 , X15252 , X15253 Genomic DNA. Translation: CAA33145.1 .
    Z29972 Genomic DNA. No translation available.
    Z29973 Genomic DNA. No translation available.
    Z29974 Genomic DNA. No translation available.
    S69369 mRNA. Translation: AAB30167.1 .
    S69370 mRNA. Translation: AAB30168.1 .
    AY633656 mRNA. Translation: AAT47737.1 .
    S83614 Genomic DNA. Translation: AAB21476.1 .
    L10614 Genomic DNA. Translation: AAA91849.1 .
    CCDSi CCDS2448.1. [P23760-8 ]
    CCDS2449.1. [P23760-5 ]
    CCDS2450.1. [P23760-4 ]
    CCDS2451.1. [P23760-3 ]
    CCDS42825.1. [P23760-7 ]
    CCDS42826.1. [P23760-1 ]
    CCDS46522.1. [P23760-6 ]
    CCDS46523.1. [P23760-2 ]
    PIRi I54276.
    I68547.
    S06960.
    RefSeqi NP_000429.2. NM_000438.5. [P23760-2 ]
    NP_001120838.1. NM_001127366.2. [P23760-6 ]
    NP_039230.1. NM_013942.4. [P23760-3 ]
    NP_852122.1. NM_181457.3. [P23760-1 ]
    NP_852123.1. NM_181458.3. [P23760-7 ]
    NP_852124.1. NM_181459.3. [P23760-8 ]
    NP_852125.1. NM_181460.3. [P23760-5 ]
    NP_852126.1. NM_181461.3. [P23760-4 ]
    UniGenei Hs.42146.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3CMY X-ray 1.95 A 219-278 [» ]
    ProteinModelPortali P23760.
    SMRi P23760. Positions 35-158, 219-277.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111111. 18 interactions.
    IntActi P23760. 7 interactions.
    MINTi MINT-202884.
    STRINGi 9606.ENSP00000375921.

    PTM databases

    PhosphoSitei P23760.

    Polymorphism databases

    DMDMi 1172022.

    Proteomic databases

    MaxQBi P23760.
    PaxDbi P23760.
    PRIDEi P23760.

    Protocols and materials databases

    DNASUi 5077.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000258387 ; ENSP00000258387 ; ENSG00000135903 . [P23760-3 ]
    ENST00000336840 ; ENSP00000338767 ; ENSG00000135903 . [P23760-5 ]
    ENST00000344493 ; ENSP00000342092 ; ENSG00000135903 . [P23760-4 ]
    ENST00000350526 ; ENSP00000343052 ; ENSG00000135903 . [P23760-1 ]
    ENST00000392069 ; ENSP00000375921 ; ENSG00000135903 . [P23760-8 ]
    ENST00000392070 ; ENSP00000375922 ; ENSG00000135903 . [P23760-7 ]
    ENST00000409551 ; ENSP00000386750 ; ENSG00000135903 . [P23760-6 ]
    ENST00000409828 ; ENSP00000386817 ; ENSG00000135903 . [P23760-2 ]
    GeneIDi 5077.
    KEGGi hsa:5077.
    UCSCi uc002vmt.2. human.
    uc002vmv.2. human. [P23760-7 ]
    uc002vmw.2. human. [P23760-5 ]
    uc002vmx.2. human. [P23760-4 ]
    uc002vmy.2. human. [P23760-6 ]
    uc002vmz.2. human. [P23760-3 ]
    uc002vna.2. human. [P23760-2 ]
    uc010fwo.3. human. [P23760-1 ]

    Organism-specific databases

    CTDi 5077.
    GeneCardsi GC02M223064.
    GeneReviewsi PAX3.
    HGNCi HGNC:8617. PAX3.
    HPAi HPA063659.
    MIMi 122880. phenotype.
    148820. phenotype.
    193500. phenotype.
    268220. phenotype.
    606597. gene.
    neXtProti NX_P23760.
    Orphaneti 99756. Alveolar rhabdomyosarcoma.
    1529. Craniofacial-deafness-hand syndrome.
    894. Waardenburg syndrome type 1.
    896. Waardenburg syndrome type 3.
    PharmGKBi PA32957.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326044.
    HOGENOMi HOG000230939.
    HOVERGENi HBG009115.
    KOi K09381.
    OMAi VHQSTLP.
    OrthoDBi EOG7WT431.
    PhylomeDBi P23760.
    TreeFami TF351610.

    Enzyme and pathway databases

    SignaLinki P23760.

    Miscellaneous databases

    ChiTaRSi PAX3. human.
    EvolutionaryTracei P23760.
    GeneWikii PAX3.
    GenomeRNAii 5077.
    NextBioi 19572.
    PROi P23760.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P23760.
    Bgeei P23760.
    CleanExi HS_PAX3.
    Genevestigatori P23760.

    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. "Expression of PAX 3 alternatively spliced transcripts and identification of two new isoforms in human tumors of neural crest origin."
      Parker C.J., Shawcross S.G., Li H., Wang Q.-Y., Herrington C.S., Kumar S., MacKie R.M., Prime W., Renne I.G., Sisley K., Kumar P.
      Int. J. Cancer 108:314-320(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PAX3G AND PAX3H), ALTERNATIVE SPLICING.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [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] (ISOFORMS PAX3B; 6 AND 7).
      Tissue: Skin.
    6. "Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma."
      Macina R.A., Barr F.G., Galili N., Riethman H.C.
      Genomics 26:1-8(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-29 AND 197-479.
    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 [GENOMIC DNA] OF 30-195.
    8. "PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse."
      Tassabehji M., Newton V.E., Leverton K., Turnbull K., Seemanova E., Kunze J., Sperling K., Strachan T., Read A.P.
      Hum. Mol. Genet. 3:1069-1074(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 196-392, VARIANTS WS1 LEU-45 AND ASP-99.
    9. "Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues."
      Tsukamoto K., Nakamura Y., Niikawa N.
      Hum. Genet. 93:270-274(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PAX3A AND PAX3B).
    10. "Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1."
      Wachtel M., Dettling M., Koscielniak E., Stegmaier S., Treuner J., Simon-Klingenstein K., Buehlmann P., Niggli F.K., Schaefer B.W.
      Cancer Res. 64:5539-5545(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE OF 1-319 (ISOFORM 6/7), CHROMOSOMAL TRANSLOCATION WITH NCOA1.
    11. "Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene."
      Tassabehji M., Read A.P., Newton V.E., Harris R., Balling R., Gruss P., Strachan T.
      Nature 355:635-636(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 56-74, VARIANT WS1 63-ALA--ILE-67 DEL.
    12. Lalwani A.K., Ploplis B., Fex J., Grundfast K.M., San Agustin T.B., Wilcox E.R.
      Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE OF 265-319.
    13. "Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma."
      Galili N., Davis R.J., Fredericks W.J., Mukhopadhyay S., Rauscher F.J. III, Emanuel B.S., Rovera G., Barr F.G.
      Nat. Genet. 5:230-235(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION WITH FOXO1.
    14. "The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx."
      Hollenbach A.D., Sublett J.E., McPherson C.J., Grosveld G.
      EMBO J. 18:3702-3711(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DAXX.
    15. "A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family."
      Morell R., Friedman T.B., Moeljopawiro S., Hartono S., Asher J.H. Jr.
      Hum. Mol. Genet. 1:243-247(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN WS1.
    16. "Functional analysis of alternative isoforms of the transcription factor PAX3 in melanocytes in vitro."
      Wang Q., Kumar S., Slevin M., Kumar P.
      Cancer Res. 66:8574-8580(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING, FUNCTION.
    17. "Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation."
      Dietz K.N., Miller P.J., Iyengar A.S., Loupe J.M., Hollenbach A.D.
      Int. J. Biochem. Cell Biol. 43:936-945(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT SER-201; SER-205 AND SER-209.
    18. "Structural basis for DNA recognition by the human PAX3 homeodomain."
      Birrane G., Soni A., Ladias J.A.
      Biochemistry 48:1148-1155(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 219-278 IN COMPLEX WITH DNA, SUBUNIT.
    19. "An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome."
      Baldwin C.T., Hoth C.F., Amos J.A., Da-Silva E.O., Milunsky A.
      Nature 355:637-638(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS1 LEU-50.
    20. "Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2."
      Tassabehji M., Read A.P., Newton V.E., Patton M., Gruss P., Harris R., Strachan T.
      Nat. Genet. 3:26-30(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS1 ALA-81.
    21. "Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)."
      Hoth C.F., Milunsky A., Lipsky N., Sheffer R., Clarren S.K., Baldwin C.T.
      Am. J. Hum. Genet. 52:455-462(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS WS3 HIS-47 AND WS1 LEU-56.
    22. "A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1)."
      Pierpont J.W., Doolan L.D., Amann K., Snead G.R., Erickson R.P.
      Hum. Mutat. 4:227-228(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS1 VAL-62.
    23. "Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families."
      Lalwani A.K., Brister J.R., Fex J., Grundfast K.M., Ploplis B., San Agustin T.B., Wilcox E.R.
      Am. J. Hum. Genet. 56:75-83(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS WS1 PHE-265 AND GLY-271.
    24. "Homozygosity for Waardenburg syndrome."
      Zlotogora J., Lerer I., Bar-David S., Ergaz Z., Abeliovich D.
      Am. J. Hum. Genet. 56:1173-1178(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS3 PHE-84.
    25. "Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature."
      Baldwin C.T., Hoth C.F., Macina R.A., Milunsky A.
      Am. J. Med. Genet. 58:115-122(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS WS1 MET-60; GLU-85 AND SER-238.
    26. Cited for: VARIANTS WS1 MET-78; ALA-81; ASP-99; CYS-266; CYS-270; CYS-271 AND HIS-271, VARIANT LYS-315.
    27. "Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?"
      Pandya A., Xia X.-J., Landa B.L., Arnos K.S., Israel J., Lloyd J., James A.L., Diehl S.R., Blanton S.H., Nance W.E.
      Hum. Mol. Genet. 5:497-502(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS WS1 ARG-48; CYS-270 AND HIS-271, VARIANTS LYS-273 AND LYS-315.
    28. "Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome."
      Asher J.H. Jr., Sommer A., Morell R., Friedman T.B.
      Hum. Mutat. 7:30-35(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDHS LYS-47.
    29. "PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida."
      Hol F.A., Geurds M.P.A., Chatkupt S., Shugart Y.Y., Balling R., Schrander-Stumpel C.T.R.M., Johnson W.G., Hamel B.C.J., Mariman E.C.M.
      J. Med. Genet. 33:655-660(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LYS-315.
    30. "Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1."
      Soejima H., Fujimoto M., Tsukamoto K., Matsumoto N., Yoshiura K., Fukushima Y., Jinno Y., Niikawa N.
      Hum. Mutat. 9:177-180(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS1 PHE-59.
    31. "Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)."
      Hol F.A., Geurds M.P.A., Cremers C.W.R.J., Hamel B.C.J., Mariman E.C.M.
      Hum. Mutat. Suppl. 1:S145-S147(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS1 VAL-62.
    32. "Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7."
      Carey M.L., Friedman T.B., Asher J.H. Jr., Innis J.W.
      J. Med. Genet. 35:248-250(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS1 HIS-391.
    33. "A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2."
      Wang C., Kim E., Attaie A., Smith T.N., Wilcox E.R., Lalwani A.K.
      Mol. Cell. Probes 12:55-57(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LYS-315.
    34. "A novel missense mutation Ile59Asn in the PAX3 gene in a family with Waardenburg syndrome type I."
      Markova T.G., Shevtsov S.P., Moskolenko L.N., Lantsov A.A., Schwartz E.I.
      Hum. Mutat. 13:85-85(1999)
      Cited for: VARIANT WS1 ASN-59.
    35. Bottani A., Antonarakis S.E., Blouin J.-L.
      Submitted (MAY-1999) to UniProtKB
      Cited for: VARIANT WS3 CYS-270.
    36. "Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome type I."
      Sotirova V.N., Rezaie T.M., Khoshsorour M.M., Sarfarazi M.
      Ophthalmic Genet. 21:25-28(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS1 LEU-73.
    37. "Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome."
      Wollnik B., Tukel T., Uyguner O., Ghanbari A., Kayserili H., Emiroglu M., Yuksel-Apak M.
      Am. J. Med. Genet. A 122:42-45(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS1 MET-60, VARIANT WS3 HIS-90.

    Entry informationi

    Entry nameiPAX3_HUMAN
    AccessioniPrimary (citable) accession number: P23760
    Secondary accession number(s): G5E9C1
    , Q16448, Q494Z3, Q494Z4, Q53T90, Q6GSJ9, Q86UQ2, Q86UQ3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1991
    Last sequence update: November 1, 1995
    Last modified: October 1, 2014
    This is version 168 of the entry and version 2 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 2
      Human chromosome 2: 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

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