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O60828

- PQBP1_HUMAN

UniProt

O60828 - PQBP1_HUMAN

Protein

Polyglutamine-binding protein 1

Gene

PQBP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 1 (01 Aug 1998)
      Previous versions | rss
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    Functioni

    Probably functions as scaffold protein that is part of numerous complexes and thereby plays a role in pre-mRNA splicing, transcription regulation and neuron development. Required for normal alternative splicing of target pre-mRNA species (PubMed:23512658). May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit.5 Publications

    GO - Molecular functioni

    1. DNA binding Source: ProtInc
    2. ribonucleoprotein complex binding Source: MGI
    3. transcription coactivator activity Source: ProtInc

    GO - Biological processi

    1. alternative mRNA splicing, via spliceosome Source: UniProtKB
    2. neuron projection development Source: UniProtKB
    3. regulation of RNA splicing Source: MGI
    4. regulation of transcription, DNA-templated Source: ProtInc
    5. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    mRNA processing, mRNA splicing, Transcription, Transcription regulation

    Enzyme and pathway databases

    SignaLinkiO60828.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Polyglutamine-binding protein 1
    Short name:
    PQBP-1
    Alternative name(s):
    38 kDa nuclear protein containing a WW domain
    Short name:
    Npw38
    Polyglutamine tract-binding protein 1
    Gene namesi
    Name:PQBP1
    Synonyms:NPW38
    ORF Names:JM26
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:9330. PQBP1.

    Subcellular locationi

    Nucleus 4 Publications. Nucleus speckle By similarity
    Note: Colocalizes with SRSF2 in nuclear speckles By similarity. Colocalized with POU3F2. Colocalized with ATXN1 in nuclear inclusion bodies.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. cytoplasmic stress granule Source: Ensembl
    3. neuronal ribonucleoprotein granule Source: Ensembl
    4. nuclear speck Source: UniProtKB
    5. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Renpenning syndrome 1 (RENS1) [MIM:309500]: A X-linked mental retardation syndrome characterized by mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti65 – 651Y → C in RENS1; impairs interaction with WBP11, SF3B1 and ATN1. 1 Publication
    VAR_071063

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi52 – 521W → A: Enhances transcriptional activation. Reduces transcriptional activation; when associated with A-75. Markedly reduced transcriptional activation; when associated with A-64; A-65 and A-66. Abolishes transcriptional activation; when associated with A-64; A-65; A-66 and A-75. 1 Publication
    Mutagenesisi64 – 641Y → A: No effect on transcriptional activation; when associated with A-65 and A-66. Markedly reduced transcriptional activation; when associated with A-52; A-65 and A-66. Abolishes transcriptional activation; when associated with A-52; A-65; A-66 and A-75. 1 Publication
    Mutagenesisi65 – 651Y → A: No effect on transcriptional activation; when associated with A-64 and A-66. Markedly reduced transcriptional activation; when associated with A-52; A-64 and A-66. Abolishes transcriptional activation; when associated with A-52; A-64; A-66 and A-75. 1 Publication
    Mutagenesisi66 – 661W → A: No effect on transcriptional activation; when associated with A-64 and A-65. Markedly reduced transcriptional activation; when associated with A-52; A-64 and A-65. Abolishes transcriptional activation; when associated with A-52; A-64; A-65 and A-75. 1 Publication
    Mutagenesisi75 – 751W → A: No effect on transcriptional activation. Reduces transcriptional activation; when associated with A-52. Abolishes transcriptional activation; when associated with A-52; A-64; A-65 and A-66. 1 Publication
    Mutagenesisi78 – 781P → G: No effect on transcriptional activation. 1 Publication
    Mutagenesisi245 – 2451Y → D: Abolishes interaction with TXNL4A. 1 Publication
    Mutagenesisi248 – 2481P → D: Abolishes interaction with TXNL4A. 1 Publication
    Mutagenesisi251 – 2511V → D: Abolishes interaction with TXNL4A. 1 Publication
    Mutagenesisi252 – 2521L → D: Abolishes interaction with TXNL4A. 1 Publication
    Mutagenesisi253 – 2531R → D: Strongly reduces affinity for TXNL4A. 1 Publication
    Mutagenesisi255 – 2551N → D: Strongly reduces affinity for TXNL4A. 1 Publication

    Keywords - Diseasei

    Mental retardation

    Organism-specific databases

    MIMi309500. phenotype.
    Orphaneti93946. Hamel cerebro-palato-cardiac syndrome.
    93947. X-linked intellectual disability, Golabi-Ito-Hall type.
    93945. X-linked intellectual disability, Porteous type.
    93950. X-linked intellectual disability, Sutherland-Haan type.
    PharmGKBiPA33693.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 265264Polyglutamine-binding protein 1PRO_0000076089Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei94 – 941Phosphoserine1 Publication
    Modified residuei247 – 2471Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO60828.
    PaxDbiO60828.
    PRIDEiO60828.

    PTM databases

    PhosphoSiteiO60828.

    Miscellaneous databases

    PMAP-CutDBO60828.

    Expressioni

    Tissue specificityi

    Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes.2 Publications

    Gene expression databases

    ArrayExpressiO60828.
    BgeeiO60828.
    GenevestigatoriO60828.

    Organism-specific databases

    HPAiHPA001880.

    Interactioni

    Subunit structurei

    Interacts with POU3F2/Brn-2, ATXN1, TXNL4A, HTT and AR. Interaction with ATXN1 correlates positively with the length of the polyglutamine tract. Interacts with RNA polymerase II large subunit in a phosphorylation-dependent manner. Forms a ternary complex with ATXN1 mutant and phosphorylated RNA polymerase II. Interacts (via C-terminus) with TXNL4A and CD2BP2. Interacts (via WW domain) with ATN1, WBP11 and SF3B1, and may interact with additional splice factors.8 Publications

    Protein-protein interaction databases

    BioGridi115393. 36 interactions.
    IntActiO60828. 12 interactions.
    MINTiMINT-112545.

    Structurei

    Secondary structure

    1
    265
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi248 – 25811

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4BWQX-ray2.10B/D/F/H223-265[»]
    4BWSX-ray2.50B/E229-265[»]
    4CDOX-ray2.50A/C223-265[»]
    ProteinModelPortaliO60828.
    SMRiO60828. Positions 46-79.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini46 – 8035WWPROSITE-ProRule annotationAdd
    BLAST
    Repeati104 – 11071-1
    Repeati111 – 11771-2
    Repeati118 – 12471-3
    Repeati125 – 13171-4
    Repeati132 – 13871-5
    Repeati139 – 14022-1
    Repeati141 – 14222-2
    Repeati143 – 14422-3
    Repeati150 – 15123-1
    Repeati152 – 15323-2
    Repeati154 – 15523-3
    Repeati156 – 15723-4
    Repeati158 – 15923-5
    Repeati160 – 16123-6
    Repeati162 – 16323-7

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni94 – 265172Intrinsically disorderedAdd
    BLAST
    Regioni104 – 138355 X 7 AA approximate tandem repeats of D-R-[SG]-H-D-K-SAdd
    BLAST
    Regioni139 – 14463 X 2 AA tandem repeats of [DE]-R
    Regioni150 – 163147 X 2 AA tandem repeats of [DE]-RAdd
    BLAST
    Regioni245 – 25511Important for interaction with TXNL4AAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi140 – 18142Arg-richAdd
    BLAST

    Domaini

    The WW domain may play a role as a transcriptional activator directly or via association with the transcription machinery. The WW domain mediates interaction with WBP11, ATN1, SF3B1 and the C-terminal domain of the RNA polymerase II large subunit.
    Except for the WW domain, the protein is intrinsically disordered.

    Sequence similaritiesi

    Contains 1 WW domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG265480.
    HOVERGENiHBG053064.
    InParanoidiO60828.
    KOiK12865.
    OMAiSHEKSDR.
    PhylomeDBiO60828.
    TreeFamiTF320689.

    Family and domain databases

    InterProiIPR001202. WW_dom.
    [Graphical view]
    PfamiPF00397. WW. 1 hit.
    [Graphical view]
    SMARTiSM00456. WW. 1 hit.
    [Graphical view]
    SUPFAMiSSF51045. SSF51045. 1 hit.
    PROSITEiPS50020. WW_DOMAIN_2. 1 hit.
    [Graphical view]

    Sequences (10)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 10 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O60828-1) [UniParc]FASTAAdd to Basket

    Also known as: PQBP-1

    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

    MPLPVALQTR LAKRGILKHL EPEPEEEIIA EDYDDDPVDY EATRLEGLPP    50
    SWYKVFDPSC GLPYYWNADT DLVSWLSPHD PNSVVTKSAK KLRSSNADAE 100
    EKLDRSHDKS DRGHDKSDRS HEKLDRGHDK SDRGHDKSDR DRERGYDKVD 150
    RERERDRERD RDRGYDKADR EEGKERRHHR REELAPYPKS KKAVSRKDEE 200
    LDPMDPSSYS DAPRGTWSTG LPKRNEAKTG ADTTAAGPLF QQRPYPSPGA 250
    VLRANAEASR TKQQD 265
    Length:265
    Mass (Da):30,472
    Last modified:August 1, 1998 - v1
    Checksum:i98C3BEF18CFF0297
    GO
    Isoform 2 (identifier: O60828-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         193-193: Missing.

    Show »
    Length:264
    Mass (Da):30,401
    Checksum:i56BBC35A4CFB41C0
    GO
    Isoform 3 (identifier: O60828-3) [UniParc]FASTAAdd to Basket

    Also known as: PQBP-1b/c

    The sequence of this isoform differs from the canonical sequence as follows:
         193-224: AVSRKDEELDPMDPSSYSDAPRGTWSTGLPKR → GKLGRMGLGETNKVQGALREEAFPQKDAWTWG
         225-265: Missing.

    Show »
    Length:224
    Mass (Da):26,158
    Checksum:i7DAC3C07D84492F0
    GO
    Isoform 4 (identifier: O60828-4) [UniParc]FASTAAdd to Basket

    Also known as: PQBP-1d

    The sequence of this isoform differs from the canonical sequence as follows:
         98-192: Missing.

    Show »
    Length:170
    Mass (Da):18,827
    Checksum:iD01C0EAB17B61307
    GO
    Isoform 5 (identifier: O60828-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         68-167: Missing.

    Show »
    Length:165
    Mass (Da):18,706
    Checksum:iA32760CAAEFE5751
    GO
    Isoform 6 (identifier: O60828-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         149-149: V → Q
         150-265: Missing.

    Show »
    Length:149
    Mass (Da):17,183
    Checksum:i88C7259FF95C0501
    GO
    Isoform 7 (identifier: O60828-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         99-128: AEEKLDRSHDKSDRGHDKSDRSHEKLDRGH → LCPQMLKKSWTGAMTSRTGAMTSRTAAMRN
         129-265: Missing.

    Show »
    Length:128
    Mass (Da):14,383
    Checksum:i1000C586B57B3758
    GO
    Isoform 8 (identifier: O60828-8) [UniParc]FASTAAdd to Basket

    Also known as: PQBP-1a

    The sequence of this isoform differs from the canonical sequence as follows:
         55-73: VFDPSCGLPYYWNADTDLV → RAPLLLECRHRPCILALPT
         74-265: Missing.

    Show »
    Length:73
    Mass (Da):8,404
    Checksum:iEF932C61145DC023
    GO
    Isoform 9 (identifier: O60828-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         61-67: GLPYYWN → PGWSAMV
         68-265: Missing.

    Show »
    Length:67
    Mass (Da):7,627
    Checksum:iF7FA61EC5E06DE6D
    GO
    Isoform 10 (identifier: O60828-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         60-60: C → W
         61-265: Missing.

    Show »
    Length:60
    Mass (Da):6,981
    Checksum:i1025785C46650A62
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti8 – 81Q → L in CAJ00539. 1 PublicationCurated
    Sequence conflicti57 – 571D → N in CAJ00548. 1 PublicationCurated
    Sequence conflicti107 – 1137Missing in CAJ00538. 1 PublicationCurated
    Sequence conflicti107 – 1137Missing in CAJ00539. 1 PublicationCurated
    Sequence conflicti107 – 1137Missing in CAJ00540. 1 PublicationCurated
    Sequence conflicti107 – 1137Missing in CAJ00541. 1 PublicationCurated
    Sequence conflicti107 – 1071H → Q in CAJ00549. 1 PublicationCurated
    Sequence conflicti147 – 1471D → G in CAJ00549. 1 PublicationCurated
    Sequence conflicti198 – 1981D → G in CAJ00549. 1 PublicationCurated
    Sequence conflicti236 – 2361A → V in CAJ00548. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti65 – 651Y → C in RENS1; impairs interaction with WBP11, SF3B1 and ATN1. 1 Publication
    VAR_071063
    Natural varianti224 – 2241R → W in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036357

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei55 – 7319VFDPS…DTDLV → RAPLLLECRHRPCILALPT in isoform 8. 1 PublicationVSP_015896Add
    BLAST
    Alternative sequencei60 – 601C → W in isoform 10. 1 PublicationVSP_015897
    Alternative sequencei61 – 265205Missing in isoform 10. 1 PublicationVSP_015898Add
    BLAST
    Alternative sequencei61 – 677GLPYYWN → PGWSAMV in isoform 9. 1 PublicationVSP_015899
    Alternative sequencei68 – 265198Missing in isoform 9. 1 PublicationVSP_015901Add
    BLAST
    Alternative sequencei68 – 167100Missing in isoform 5. 1 PublicationVSP_015900Add
    BLAST
    Alternative sequencei74 – 265192Missing in isoform 8. 1 PublicationVSP_015902Add
    BLAST
    Alternative sequencei98 – 19295Missing in isoform 4. 2 PublicationsVSP_015903Add
    BLAST
    Alternative sequencei99 – 12830AEEKL…LDRGH → LCPQMLKKSWTGAMTSRTGA MTSRTAAMRN in isoform 7. 1 PublicationVSP_015904Add
    BLAST
    Alternative sequencei129 – 265137Missing in isoform 7. 1 PublicationVSP_015905Add
    BLAST
    Alternative sequencei149 – 1491V → Q in isoform 6. 1 PublicationVSP_015906
    Alternative sequencei150 – 265116Missing in isoform 6. 1 PublicationVSP_015907Add
    BLAST
    Alternative sequencei193 – 22432AVSRK…GLPKR → GKLGRMGLGETNKVQGALRE EAFPQKDAWTWG in isoform 3. 2 PublicationsVSP_015908Add
    BLAST
    Alternative sequencei193 – 1931Missing in isoform 2. 1 PublicationVSP_015909
    Alternative sequencei225 – 26541Missing in isoform 3. 2 PublicationsVSP_015910Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ242829 mRNA. Translation: CAB44309.1.
    AB016533 mRNA. Translation: BAA76400.1.
    AB041832 Genomic DNA. Translation: BAB16702.1.
    AB041832 Genomic DNA. Translation: BAB16703.1.
    AB041832 Genomic DNA. Translation: BAB16704.1.
    AB041832 Genomic DNA. Translation: BAB16705.1.
    AB041833 mRNA. Translation: BAB16706.1.
    AB041834 mRNA. Translation: BAB16707.1.
    AB041835 mRNA. Translation: BAB16708.1.
    AB041836 mRNA. Translation: BAB16709.1.
    AJ973593 mRNA. Translation: CAJ00537.1.
    AJ973594 mRNA. Translation: CAJ00538.1.
    AJ973595 mRNA. Translation: CAJ00539.1.
    AJ973596 mRNA. Translation: CAJ00540.1.
    AJ973597 mRNA. Translation: CAJ00541.1.
    AJ973598 mRNA. Translation: CAJ00542.1.
    AJ973599 mRNA. Translation: CAJ00543.1.
    AJ973600 mRNA. Translation: CAJ00544.1.
    AJ973601 mRNA. Translation: CAJ00545.1.
    AJ973602 mRNA. Translation: CAJ00546.1.
    AJ973603 mRNA. Translation: CAJ00547.1.
    AJ973605 mRNA. Translation: CAJ00548.1.
    AJ973606 mRNA. Translation: CAJ00549.1.
    AJ973607 mRNA. Translation: CAJ00550.1.
    AJ005893 mRNA. Translation: CAA06750.1.
    BC012358 mRNA. Translation: AAH12358.1.
    CCDSiCCDS14309.1. [O60828-1]
    CCDS55412.1. [O60828-4]
    RefSeqiNP_001027553.1. NM_001032381.1. [O60828-1]
    NP_001027554.1. NM_001032382.1. [O60828-1]
    NP_001027555.1. NM_001032383.1. [O60828-1]
    NP_001027556.1. NM_001032384.1. [O60828-1]
    NP_001161461.1. NM_001167989.1. [O60828-2]
    NP_001161462.1. NM_001167990.1.
    NP_001161464.1. NM_001167992.1. [O60828-5]
    NP_005701.1. NM_005710.2. [O60828-1]
    NP_652766.1. NM_144495.2. [O60828-4]
    XP_005272628.1. XM_005272571.2. [O60828-2]
    XP_005272629.1. XM_005272572.2. [O60828-4]
    UniGeneiHs.534384.

    Genome annotation databases

    EnsembliENST00000218224; ENSP00000218224; ENSG00000102103. [O60828-1]
    ENST00000247140; ENSP00000247140; ENSG00000102103. [O60828-4]
    ENST00000376563; ENSP00000365747; ENSG00000102103. [O60828-1]
    ENST00000376566; ENSP00000365750; ENSG00000102103. [O60828-4]
    ENST00000396763; ENSP00000379985; ENSG00000102103. [O60828-1]
    ENST00000447146; ENSP00000391759; ENSG00000102103. [O60828-1]
    GeneIDi10084.
    KEGGihsa:10084.
    UCSCiuc004dle.3. human. [O60828-1]
    uc004dlj.1. human. [O60828-3]
    uc004dlk.3. human. [O60828-4]
    uc004dln.3. human. [O60828-2]
    uc010nij.3. human. [O60828-5]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ242829 mRNA. Translation: CAB44309.1 .
    AB016533 mRNA. Translation: BAA76400.1 .
    AB041832 Genomic DNA. Translation: BAB16702.1 .
    AB041832 Genomic DNA. Translation: BAB16703.1 .
    AB041832 Genomic DNA. Translation: BAB16704.1 .
    AB041832 Genomic DNA. Translation: BAB16705.1 .
    AB041833 mRNA. Translation: BAB16706.1 .
    AB041834 mRNA. Translation: BAB16707.1 .
    AB041835 mRNA. Translation: BAB16708.1 .
    AB041836 mRNA. Translation: BAB16709.1 .
    AJ973593 mRNA. Translation: CAJ00537.1 .
    AJ973594 mRNA. Translation: CAJ00538.1 .
    AJ973595 mRNA. Translation: CAJ00539.1 .
    AJ973596 mRNA. Translation: CAJ00540.1 .
    AJ973597 mRNA. Translation: CAJ00541.1 .
    AJ973598 mRNA. Translation: CAJ00542.1 .
    AJ973599 mRNA. Translation: CAJ00543.1 .
    AJ973600 mRNA. Translation: CAJ00544.1 .
    AJ973601 mRNA. Translation: CAJ00545.1 .
    AJ973602 mRNA. Translation: CAJ00546.1 .
    AJ973603 mRNA. Translation: CAJ00547.1 .
    AJ973605 mRNA. Translation: CAJ00548.1 .
    AJ973606 mRNA. Translation: CAJ00549.1 .
    AJ973607 mRNA. Translation: CAJ00550.1 .
    AJ005893 mRNA. Translation: CAA06750.1 .
    BC012358 mRNA. Translation: AAH12358.1 .
    CCDSi CCDS14309.1. [O60828-1 ]
    CCDS55412.1. [O60828-4 ]
    RefSeqi NP_001027553.1. NM_001032381.1. [O60828-1 ]
    NP_001027554.1. NM_001032382.1. [O60828-1 ]
    NP_001027555.1. NM_001032383.1. [O60828-1 ]
    NP_001027556.1. NM_001032384.1. [O60828-1 ]
    NP_001161461.1. NM_001167989.1. [O60828-2 ]
    NP_001161462.1. NM_001167990.1.
    NP_001161464.1. NM_001167992.1. [O60828-5 ]
    NP_005701.1. NM_005710.2. [O60828-1 ]
    NP_652766.1. NM_144495.2. [O60828-4 ]
    XP_005272628.1. XM_005272571.2. [O60828-2 ]
    XP_005272629.1. XM_005272572.2. [O60828-4 ]
    UniGenei Hs.534384.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4BWQ X-ray 2.10 B/D/F/H 223-265 [» ]
    4BWS X-ray 2.50 B/E 229-265 [» ]
    4CDO X-ray 2.50 A/C 223-265 [» ]
    ProteinModelPortali O60828.
    SMRi O60828. Positions 46-79.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115393. 36 interactions.
    IntActi O60828. 12 interactions.
    MINTi MINT-112545.

    PTM databases

    PhosphoSitei O60828.

    Proteomic databases

    MaxQBi O60828.
    PaxDbi O60828.
    PRIDEi O60828.

    Protocols and materials databases

    DNASUi 10084.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000218224 ; ENSP00000218224 ; ENSG00000102103 . [O60828-1 ]
    ENST00000247140 ; ENSP00000247140 ; ENSG00000102103 . [O60828-4 ]
    ENST00000376563 ; ENSP00000365747 ; ENSG00000102103 . [O60828-1 ]
    ENST00000376566 ; ENSP00000365750 ; ENSG00000102103 . [O60828-4 ]
    ENST00000396763 ; ENSP00000379985 ; ENSG00000102103 . [O60828-1 ]
    ENST00000447146 ; ENSP00000391759 ; ENSG00000102103 . [O60828-1 ]
    GeneIDi 10084.
    KEGGi hsa:10084.
    UCSCi uc004dle.3. human. [O60828-1 ]
    uc004dlj.1. human. [O60828-3 ]
    uc004dlk.3. human. [O60828-4 ]
    uc004dln.3. human. [O60828-2 ]
    uc010nij.3. human. [O60828-5 ]

    Organism-specific databases

    CTDi 10084.
    GeneCardsi GC0XP048755.
    HGNCi HGNC:9330. PQBP1.
    HPAi HPA001880.
    MIMi 300463. gene.
    309500. phenotype.
    neXtProti NX_O60828.
    Orphaneti 93946. Hamel cerebro-palato-cardiac syndrome.
    93947. X-linked intellectual disability, Golabi-Ito-Hall type.
    93945. X-linked intellectual disability, Porteous type.
    93950. X-linked intellectual disability, Sutherland-Haan type.
    PharmGKBi PA33693.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG265480.
    HOVERGENi HBG053064.
    InParanoidi O60828.
    KOi K12865.
    OMAi SHEKSDR.
    PhylomeDBi O60828.
    TreeFami TF320689.

    Enzyme and pathway databases

    SignaLinki O60828.

    Miscellaneous databases

    ChiTaRSi PQBP1. human.
    GeneWikii PQBP1.
    GenomeRNAii 10084.
    NextBioi 38125.
    PMAP-CutDB O60828.
    PROi O60828.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60828.
    Bgeei O60828.
    Genevestigatori O60828.

    Family and domain databases

    InterProi IPR001202. WW_dom.
    [Graphical view ]
    Pfami PF00397. WW. 1 hit.
    [Graphical view ]
    SMARTi SM00456. WW. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51045. SSF51045. 1 hit.
    PROSITEi PS50020. WW_DOMAIN_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "PQBP-1, a novel polyglutamine tract binding protein, inhibits transcription activation by Brn-2 and affects cell survival."
      Waragai M., Lammers C.-H., Takeuchi S., Imafuku I., Udagawa Y., Kanazawa I., Kawabata M., Mouradian M.M., Okazawa H.
      Hum. Mol. Genet. 8:977-987(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH POU3F2; HTT AND AR, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Brain.
    2. "Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription."
      Komuro A., Saeki M., Kato S.
      Nucleic Acids Res. 27:1957-1965(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF TRP-52; TYR-64; TYR-65; TRP-66; TRP-75 AND PRO-78.
      Tissue: Gastric adenocarcinoma.
    3. "Genomic organization and alternative transcripts of the human PQBP-1 gene."
      Iwamoto K., Huang Y.-T., Ueda S.
      Gene 259:69-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 3; 4 AND 7).
    4. "Detailed sampling of cloned cDNA samples identifies additional PQBP1 transcript variants."
      Eades T.L., Huckle E.L., Ross M.T.
      Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6; 8; 9 AND 10).
      Tissue: Adrenal gland, Kidney, Small intestine and Thymus.
    5. "Transcription map in Xp11.23."
      Strom T.M., Nyakatura G., Hellebrand H., Drescher B., Rosenthal A., Meindl A.
      Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    6. "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 1).
      Tissue: Lung.
    7. Bienvenut W.V., Lilla S., von Kriegsheim A., Lempens A., Kolch W.
      Submitted (DEC-2008) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 2-10 AND 229-243, CLEAVAGE OF INITIATOR METHIONINE, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Ovarian carcinoma.
    8. Cited for: INTERACTION WITH POU3F2.
    9. "PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain."
      Waragai M., Junn E., Kajikawa M., Takeuchi S., Kanazawa I., Shibata M., Mouradian M.M., Okazawa H.
      Biochem. Biophys. Res. Commun. 273:592-595(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TXNL4A.
    10. "Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death."
      Okazawa H., Rich T., Chang A., Lin X., Waragai M., Kajikawa M., Enokido Y., Komuro A., Kato S., Shibata M., Hatanaka H., Mouradian M.M., Sudol M., Kanazawa I.
      Neuron 34:701-713(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH ATXN1 AND RNA POLYMERASE II LARGE SUBUNIT, SUBCELLULAR LOCATION.
    11. Cited for: REVIEW ON RENS1.
    12. Cited for: INVOLVEMENT IN RENS1.
    13. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-247, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    14. "Polyglutamine tract binding protein-1 is an intrinsically unstructured protein."
      Takahashi M., Mizuguchi M., Shinoda H., Aizawa T., Demura M., Okazawa H., Kawano K.
      Biochim. Biophys. Acta 1794:936-943(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: DOMAIN, CIRCULAR DICHROISM, NMR, INTERACTION WITH TXNL4A.
    15. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-94, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    16. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    18. "PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth."
      Wang Q., Moore M.J., Adelmant G., Marto J.A., Silver P.A.
      Genes Dev. 27:615-626(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH SF3B1 AND WBP11, SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT RENS1 CYS-65.
    19. "Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD."
      Mizuguchi M., Obita T., Serita T., Kojima R., Nabeshima Y., Okazawa H.
      Nat. Commun. 5:3822-3822(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.10 ANGSTROMS) OF 223-265 IN COMPLEXES WITH TXNL4A AND CD2BP2, INTERACTION WITH TXNL4A AND CD2BP2, DOMAIN, MUTAGENESIS OF TYR-245; PRO-248; VAL-251; LEU-252; ARG-253 AND ASN-255.
    20. "Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene."
      Lubs H., Abidi F.E., Echeverri R., Holloway L., Meindl A., Stevenson R.E., Schwartz C.E.
      J. Med. Genet. 43:E30-E30(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RENS1 CYS-65.
    21. Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-224.
    22. "Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing."
      Tapia V.E., Nicolaescu E., McDonald C.B., Musi V., Oka T., Inayoshi Y., Satteson A.C., Mazack V., Humbert J., Gaffney C.J., Beullens M., Schwartz C.E., Landgraf C., Volkmer R., Pastore A., Farooq A., Bollen M., Sudol M.
      J. Biol. Chem. 285:19391-19401(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT RENS1 CYS-65, INTERACTION WITH WBP11 AND ATN1, DOMAIN, FUNCTION.

    Entry informationi

    Entry nameiPQBP1_HUMAN
    AccessioniPrimary (citable) accession number: O60828
    Secondary accession number(s): Q4VY25
    , Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 25, 2005
    Last sequence update: August 1, 1998
    Last modified: October 1, 2014
    This is version 128 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: 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