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Pqbp1
Gene Detail
Symbol

Name
ID
Pqbp1
polyglutamine binding protein 1
MGI:1859638
Synonyms
Sfc2
Feature Type
protein coding gene
Genetic Map
Chromosome X
3.56 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
ChrX:7894519-7899269 bp, - strand
From VEGA annotation of GRCm38

  4751 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4172  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Pqbp1

Human
homologs
Human Homolog PQBP1, polyglutamine binding protein 1
NCBI Gene ID 10084
neXtProt AC  NX_O60828
Human Synonyms  MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS
Human Chr (Location)  Xp11.23; chrX:48897908-48903145 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PQBP1
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(7) Targeted(1)
Incidental mutations (data from APF )
Interactions
Pqbp1 interacts with 22 markers (Mir7b, Mir20a, Mir27a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process alternative mRNA splicing, via spliceosome, mRNA processing, ...
Component cytoplasm, cytoplasmic stress granule, ...
Function ribonucleoprotein complex binding
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (146)    Tissues (88)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 14
RNA in situ 103
Western blot 29
cDNA source data(64)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(67) Genomic(2) cDNA(64) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000018001 (Evidence)
Ensembl Gene ModelENSMUSG00000031157 (Evidence)
Entrez Gene54633 (Evidence)
UniGene14616
DFCITC1577296
DoTSDT.101396843, DT.497027
NIA Mouse Gene IndexU039233
Consensus CDS ProjectCCDS29977.1
International Mouse Knockout Project StatusPqbp1
Sequences
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 sequences
All sequences(54) RefSeq(8) UniProt(7)
Polymorphisms
RFLP(1) : SNPs within 2kb(50 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001202 WW domain
Protein Ontology PR:000013165 polyglutamine-binding protein 1
References
(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
All references(33)
Other
accession IDs
MGI:1343097

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/21/2014
MGI 5.20
The Jackson Laboratory