Entity Details

Primary name PQBP1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60828
EntryNamePQBP1_HUMAN
FullNamePolyglutamine-binding protein 1
TaxID9606
Evidenceevidence at protein level
Length265
SequenceStatuscomplete
DateCreated2005-10-25
DateModified2021-06-02

Ontological Relatives

GenesPQBP1

GO terms

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GOName
GO:0000380 alternative mRNA splicing, via spliceosome
GO:0000398 mRNA splicing, via spliceosome
GO:0002218 activation of innate immune response
GO:0002230 positive regulation of defense response to virus by host
GO:0003677 DNA binding
GO:0003690 double-stranded DNA binding
GO:0003713 transcription coactivator activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006355 regulation of transcription, DNA-templated
GO:0010494 cytoplasmic stress granule
GO:0016604 nuclear body
GO:0016607 nuclear speck
GO:0031175 neuron projection development
GO:0032481 positive regulation of type I interferon production
GO:0043021 ribonucleoprotein complex binding
GO:0043484 regulation of RNA splicing
GO:0045087 innate immune response
GO:0048814 regulation of dendrite morphogenesis
GO:0051607 defense response to virus
GO:0071360 cellular response to exogenous dsRNA
GO:0071598 neuronal ribonucleoprotein granule

Subcellular Location

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Subcellular Location
Cytoplasmic granule
Nucleus
Nucleus speckle

Domains

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DomainNameCategoryType
IPR001202 WW domainDomainDomain
IPR036020 WW domain superfamilyFamilyHomologous superfamily
IPR036249 Thioredoxin-like superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
309500 OMIMRenpenning syndrome 1 (RENS1)An 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

31 interactions

InteractorPartnerSourcesPublicationsLink
PQBP1_HUMANMED31_HUMANBioGRID, HPRD, IntAct16169070 details
PQBP1_HUMANEF1A1_HUMANBioGRID, HPRD, IntAct16169070 details
PQBP1_HUMANERG28_HUMANBioGRID, HPRD, IntAct16169070 details
PQBP1_HUMANCLCB_HUMANHPRD, IntAct16169070 details
PQBP1_HUMANRAB8A_HUMANHPRD, IntAct16169070 details
PQBP1_HUMANRECO_HUMANBioGRID, HPRD, IntAct16713569 details
PQBP1_HUMANWBP11_HUMANBioGRID, HPRD, IntAct, MINT10593949 11054566 16713569 25416956 26344197 27314904 28514442 details
PQBP1_HUMANAQR_HUMANBioGRID, MINT22365833 details
PQBP1_HUMANMEP50_HUMANBioGRID, MINT22365833 details
PQBP1_HUMANHNRH2_HUMANBioGRID, MINT22365833 details
PQBP1_HUMANGOGA2_HUMANBioGRID, IntAct25416956 26871637 details
PQBP1_HUMANLZTS2_HUMANBioGRID, IntAct25416956 26871637 details
PQBP1_HUMANMARE1_HUMANBioGRID, IntAct25416956 32296183 details
PQBP1_HUMANESR1_HUMANBioGRID, IntAct20348541 31527615 details
PQBP1_HUMANHD_HUMANIntAct32814053 details
PQBP1_HUMANATX1_HUMANBioGRID, HPRD, IntAct12062018 32814053 details
PQBP1_HUMANTLX3_HUMANBioGRID, IntAct20211142 details
PQBP1_HUMANTXN4A_HUMANBioGRID, HPRD10873650 11054566 details
PQBP1_HUMANLRIF1_HUMANBioGRID, HPRD16169070 details
PQBP1_HUMANPO3F2_HUMANBioGRID, HPRD10332029 details
PQBP1_HUMANRPB1_HUMANBioGRID, HPRD12062018 details
PQBP1_HUMANPSPC_HUMANBioGRID19366705 details
PQBP1_HUMANLNX1_HUMANBioGRID22889411 details
PQBP1_HUMANA4_HUMANBioGRID21832049 details
PQBP1_HUMANAPBB1_HUMANBioGRID16055720 details
PQBP1_HUMANRIF1_HUMANIntAct16169070 details
PQBP1_HUMANSF3A2_HUMANBioGRID, MINT17332742 details
PQBP1_HUMANPP1A_HUMANBioGRID, IntAct27173435 unassigned1312 details
PQBP1_HUMANPP1R7_HUMANBioGRID, IntAct27173435 unassigned1312 details
PQBP1_HUMANPP1B_HUMANBioGRID, IntAct27173435 unassigned1312 details
PQBP1_HUMANCELF1_HUMANBioGRID29395067 details