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Pqbp1 Gene Detail
Summary
  • Symbol
    Pqbp1
  • Name
    polyglutamine binding protein 1
  • Synonyms
    Sfc2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859638
    NCBI Gene: 54633
  • Gene Overview
    MyGene.info: PQBP1
Location & Maps
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  • Genetic Map
    Chromosome X, 3.56 cM
  • Mapping Data
    3 experiments
Homology
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  • Human Ortholog
    PQBP1, polyglutamine binding protein 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PQBP1, polyglutamine binding protein 1
    Orthology source: HomoloGene
  • Synonyms
    MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS
  • Links
    NCBI Gene ID: 10084
    neXtProt AC: NX_O60828

  • Chr Location
    Xp11.23; chrX:48897912-48903145 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human PQBP1 associations

Human Disease Mouse Models
       Renpenning Syndrome 1; RENS1   OMIM: 309500
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotype references
  • All Mutations and Alleles
    8
  • Gene trapped
    7
  • Targeted
    1
  • Incidental Mutations
    APF
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018001 VEGA Gene Model | MGI Sequence Detail 4751 C57BL/6J ±  kb
transcript OTTMUST00000043473 VEGA | MGI Sequence Detail 1104 Not Applicable  
polypeptide OTTMUSP00000019532 VEGA | MGI Sequence Detail 263 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    50 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000013165 polyglutamine-binding protein 1
  • InterPro Domains
    IPR001202 WW domain
Molecular
Reagents
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  • All nucleic 67
    Genomic 2
    cDNA 64
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGI:1343097
References
more
  • Summaries
    All 30
    Developmental Gene Expression 3
    Gene Ontology 6
    Phenotypes 3
  • Earliest
    J:55860 Derry JM, et al., Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com. Nat Genet. 1999 Jul;22(3):286-90
  • Latest
    J:204402 Li C, et al., Sox2 transcriptionally regulates PQBP1, an intellectual disability-microcephaly causative gene, in neural stem progenitor cells. PLoS One. 2013;8(7):e68627

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory