PURA (purine rich element binding protein A)

2003-02-01  

Identity

HGNC
LOCATION
5q31.3
LOCUSID
ALIAS
MRD31,PUR-ALPHA,PUR1,PURALPHA

Other Information

Locus ID:

NCBI: 5813
MIM: 600473
HGNC: 9701
Ensembl: ENSG00000185129

Variants:

dbSNP: 5813
ClinVar: 5813
TCGA: ENSG00000185129
COSMIC: PURA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185129ENST00000331327Q00577
ENSG00000185129ENST00000502351A0A494C0X8
ENSG00000185129ENST00000505703A0A494C0H6
ENSG00000185129ENST00000651386Q00577

Expression (GTEx)

0
5
10
15
20

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD29382897
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD29382897

References

Pubmed IDYearTitleCitations
267955932016Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.77
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
182585962008Isolation and characterization of a novel H1.2 complex that acts as a repressor of p53-mediated transcription.49
129337922003Single-stranded DNA-binding proteins PURalpha and PURbeta bind to a purine-rich negative regulatory element of the alpha-myosin heavy chain gene and control transcriptional and translational regulation of the gene expression. Implications in the repression of alpha-myosin heavy chain during heart failure.28
228358292012Translation of Pur-α is targeted by cellular miRNAs to modulate the differentiation-dependent susceptibility of monocytes to HIV-1 infection.26
184137352008Androgen receptor overexpression in prostate cancer linked to Pur alpha loss from a novel repressor complex.22
254390982014Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.20
124113172002hnRNP-K and Pur(alpha) act together to repress the transcriptional activity of the CD43 gene promoter.17
267281492016Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity.17
253420642014Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.16

Citation

Dessen P

PURA (purine rich element binding protein A)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41951/pura