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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:7760759-7765469 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 3.56 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    178 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859638
 protein coding gene ChrX:7760758-7765508 (-)
129S1/SvImJ ENSMUSG00200030417
 protein coding gene ChrX:2461399-2466150 (-)
A/J ENSMUSG00195039681
 protein coding gene ChrX:2484367-2489118 (-)
AKR/J ENSMUSG00220030559
 protein coding gene ChrX:2472304-2477043 (-)
BALB/cJ ENSMUSG00180024951
 protein coding gene ChrX:2482069-2486823 (-)
C3H/HeJ ENSMUSG00175028762
 protein coding gene ChrX:2496036-2500789 (-)
C57BL/6NJ ENSMUSG00215039436
 protein coding gene ChrX:3159888-3164639 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032903
 protein coding gene ChrX:2039511-2044382 (-)
CAST/EiJ ENSTCUG00005030607
 protein coding gene ChrX:2431196-2436110 (-)
CBA/J ENSMUSG00210033676
 protein coding gene ChrX:2512919-2517671 (-)
DBA/2J ENSMUSG00185028810
 protein coding gene ChrX:9130044-9134794 (-)
FVB/NJ ENSMUSG00205030317
 protein coding gene ChrX:2506665-2511417 (-)
JF1/MsJ ENSUMUG00000027337
 protein coding gene ChrX:23016514-23021264 (-)
LP/J ENSMUSG00230029591
 protein coding gene ChrX:13650251-13655000 (-)
NOD/ShiLtJ ENSMUSG00190027009
 protein coding gene ChrX:2487150-2491891 (-)
NZO/HlLtJ ENSMUSG00225045080
 protein coding gene ChrX:18915772-18920521 (-)
PWK/PhJ ENSLUMG00010033296
 protein coding gene ChrX:2476850-2481605 (-)
SPRET/EiJ ENSMSPG00010020790
 protein coding gene ChrX:2514283-2518965 (-)
WSB/EiJ ENSIUOG00005030867
 protein coding gene ChrX:16035717-16040456 (+)



Homology
more
  • Human Ortholog
    PQBP1, polyglutamine binding protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PQBP1, polyglutamine binding protein 1
  • Synonyms
    MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS
  • Links
    NCBI Gene ID: 10084
    UniProt: O60828

  • Chr Location
    Xp11.23; chrX:48890197-48903640 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pqbp1 mouse models; 1 with human PQBP1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 4 alleles in 4 genetic backgrounds
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Hemi- or homozygosity for the p.W215* mutation affects cerebral cortical development, leading to a thin cerebral cortex and reduced body and brain weight. Hemizygosity for the Renpenning syndrome associated p.Y65C mutation affects neuronal differentiation in embryonic cerebral cortex, leading to microcephaly and cognitive impairment.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    53
  • GO References
    9
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    763
  • Tissues
    90
  • cDNA Data
    66
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 54633 NCBI Gene Model | MGI Sequence Detail 4711 C57BL/6J ±  kb
    transcript NM_019478 RefSeq | MGI Sequence Detail 1137 C57BL/6  
    polypeptide Q91VJ5 UniProt | EBI | MGI Sequence Detail 263 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 71
      Genomic 2
      cDNA 66
      Primer pair 1
      Other 2
      Antibodies 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1343097
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 9
      Phenotypes 17
    • 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:379200 Yuan L, et al., The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects. Nat Commun. 2026 Jan 8;17(1):1463
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory