PURA gene

purine rich element binding protein A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]

From UniProt:

This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene. May play a role in the initiation of DNA replication and in recombination.

From NCBI Gene:

  • Mental retardation, autosomal dominant 31

From UniProt:

Mental retardation, autosomal dominant 31 (MRD31): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD31 patients manifest neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay. [MIM:616158]

Cytogenetic Location: 5q31.3, which is the long (q) arm of chromosome 5 at position 31.3

Molecular Location: base pairs 140,114,123 to 140,119,416 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q31.3, which is the long (q) arm of chromosome 5 at position 31.3
  • MRD31
  • PUR-ALPHA
  • PUR1
  • PURALPHA