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		MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS
Human Chr (Location)		Xp11.23; chrX:48755195-48760422 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PQBP1

Alleles and phenotypes

All alleles(8) : Targeted(1) Gene trapped(7)

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	regulation of transcription, DNA-dependent, stress granule assembly, ...
Component	cytoplasm, cytoplasmic stress granule, ...
Function	molecular_function

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (146)    Tissues (78)   
Theiler Stages: 17, 18, 19, 21, 23, 26, 28

Assay Type	Results
Immunohistochemistry	14
RNA in situ	103
Western blot	29

cDNA source data(64)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Pqbp1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000018001	VEGA Gene Model | MGI Sequence Detail	4751	C57BL/6J
transcript	OTTMUST00000043473	VEGA | MGI Sequence Detail	1104	Not Applicable
polypeptide	OTTMUSP00000019532	VEGA | MGI Sequence Detail	263	Not Applicable

All sequences(49) RefSeq(6) UniProt(4)

Polymorphisms

RFLP(1) : SNPs(30 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:177884 Kunde SA, et al., The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules. Hum Mol Genet. 2011 Dec 15;20(24):4916-31
All references(30)

Other accession IDs

MGI:1343097