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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

HCOP human homology predictions: PQBP1
Gene Tree: Pqbp1

Human
homologs
PQBP1, polyglutamine binding protein 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 10084
neXtProt AC: NX_O60828

Human Synonyms: MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS

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

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: (24 annotations)
Process alternative mRNA splicing, via spliceosome, cilium morphogenesis, ...
Component centrosome, ciliary base, ...
Function protein C-terminus binding, 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100216040 ; ZFIN pqbp1    NEW 
Molecular
reagents
All nucleic(67) Genomic(2) cDNA(64) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000018001 (Evidence)
Ensembl Gene Model ENSMUSG00000031157 (Evidence)
Entrez Gene 54633 (Evidence)
UniGene 14616
DFCI TC1577296
DoTS DT.101396843, DT.497027
NIA Mouse Gene Index U039233
Consensus CDS Project CCDS29977.1
International Mouse Phenotyping Consortium Status Pqbp1
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(51) RefSeq(8) UniProt(4)
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
Citing These Resources
Funding Information
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory