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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
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:7894519-7899269 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 3.56 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    50 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859638
protein coding gene ChrX:7894519-7899269 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035529
protein coding gene ChrX:2520652-2525408 (-)
A/J MGP_AJ_G0035507
protein coding gene ChrX:2478466-2483266 (-)
AKR/J MGP_AKRJ_G0035439
protein coding gene ChrX:2596913-2601653 (-)
BALB/cJ MGP_BALBcJ_G0035503
protein coding gene ChrX:2506631-2511443 (-)
C3H/HeJ MGP_C3HHeJ_G0035211
protein coding gene ChrX:2567959-2572761 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036027
protein coding gene ChrX:2606841-2611607 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032903
protein coding gene ChrX:2039511-2044382 (-)
CAST/EiJ MGP_CASTEiJ_G0034512
protein coding gene ChrX:2458160-2464231 (-)
CBA/J MGP_CBAJ_G0035181
protein coding gene ChrX:2729503-2734258 (-)
DBA/2J MGP_DBA2J_G0035338
protein coding gene ChrX:2502154-2506971 (-)
FVB/NJ MGP_FVBNJ_G0035285
protein coding gene ChrX:2461320-2466061 (-)
LP/J MGP_LPJ_G0035416
protein coding gene ChrX:2537380-2544359 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035325
protein coding gene ChrX:2695326-2700083 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036045
protein coding gene ChrX:2505410-2510902 (-)
PWK/PhJ MGP_PWKPhJ_G0034213
protein coding gene ChrX:2432337-2437301 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034051
protein coding gene ChrX:2478828-2483747 (-)
WSB/EiJ MGP_WSBEiJ_G0034635
protein coding gene ChrX:2513461-2518208 (-)



Homology
more
  • Human Ortholog
    PQBP1, polyglutamine binding protein 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PQBP1, polyglutamine binding protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS
  • Links
    NCBI Gene ID: 10084
    neXtProt AC: NX_O60828
    UniProt: O60828

  • Chr Location
    Xp11.23; chrX:48897862-48903145 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human PQBP1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 54633 NCBI Gene Model | MGI Sequence Detail 4751 C57BL/6J ±  kb
transcript NM_019478 RefSeq | MGI Sequence Detail 1248 C57BL/6  
polypeptide Q91VJ5 UniProt | EBI | MGI Sequence Detail 263 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 70
    Genomic 2
    cDNA 66
    Other 2

    Microarray probesets 3
Other
Accession IDs
less
MGI:1343097
References
more
  • Summaries
    All 31
    Developmental Gene Expression 3
    Gene Ontology 6
    Phenotypes 4
  • 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
11/06/2018
MGI 6.13
The Jackson Laboratory