PQBP1 (polyglutamine binding protein 1)

2014-11-01  

Identity

HGNC
PQBP1
LOCATION
Xp11.23
LOCUSID
10084
ALIAS
MRX2,MRX55,MRXS3,MRXS8,NPW38,RENS1,SHS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10084
MIM: 300463
HGNC: 9330
Ensembl: ENSG00000102103

Variants:

dbSNP: 10084
ClinVar: 10084
TCGA: ENSG00000102103
COSMIC: PQBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102103ENST00000218224O60828
ENSG00000102103ENST00000218224A0A0S2Z4V5
ENSG00000102103ENST00000247140O60828
ENSG00000102103ENST00000376563O60828
ENSG00000102103ENST00000376563A0A0S2Z4V5
ENSG00000102103ENST00000376566O60828
ENSG00000102103ENST00000396763O60828
ENSG00000102103ENST00000396763A0A0S2Z4V5
ENSG00000102103ENST00000447146O60828
ENSG00000102103ENST00000447146A0A0S2Z4V5
ENSG00000102103ENST00000456306H7C053
ENSG00000102103ENST00000651767O60828
ENSG00000102103ENST00000651767A0A0S2Z4V5

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, Prp19/CDC5L complexKEGGhsa_M00353
Spliceosome, Prp19/CDC5L complexKEGGM00353
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
260464372015PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1.44
146346492003Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.37
204103082010Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.23
219338362011The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules.17
262882492015Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.17
150246942004Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.14
153554342004Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).10
164934392006Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.6
191193192009Nematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolism.6
198477892010Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.6

Citation

Dessen P

PQBP1 (polyglutamine binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72165/pqbp1