PURA

PURA
Identifiers
Aliases	PURA, PUR-ALPHA, PUR1, PURALPHA, MRD31, purine-rich element binding protein A, purine rich element binding protein A
External IDs	MGI: 103079 HomoloGene: 4279 GeneCards: PURA
Gene ontology Molecular function • DNA binding • double-stranded telomeric DNA binding • transcription factor activity, sequence-specific DNA binding • transcription factor binding • purine-rich negative regulatory element binding • translation repressor activity, nucleic acid binding • single-stranded DNA binding • protein binding • RNA binding • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding • poly(A) RNA binding • double-stranded DNA binding • SMAD binding Cellular component • cytoplasm • neuronal cell body • dendrite • DNA replication factor A complex • nuclear chromosome, telomeric region • nucleus Biological process • cell differentiation • negative regulation of translation • regulation of transcription, DNA-templated • transcription, DNA-templated • nervous system development • regulation of cell proliferation • DNA replication initiation • positive regulation of cell proliferation • negative regulation of transcription, DNA-templated • DNA unwinding involved in DNA replication • regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5813	19290
Ensembl	ENSG00000185129	ENSMUSG00000043991
UniProt	Q00577	P42669
RefSeq (mRNA)	NM_005859	NM_008989
RefSeq (protein)	NP_005850.1	NP_033015.1
Location (UCSC)	Chr 5: 140.11 – 140.13 Mb	Chr 18: 36.28 – 36.3 Mb
PubMed search	[1]	[2]
Wikidata

Transcriptional activator protein Pur-alpha is a protein that in humans is encoded by the PURA gene.^[3]

Gene

PURA is located on chromosome 5 at 5q31.2 and is encoded by a single exon that encodes a highly conserved multifunctional protein, Purα (Pur-alpha). PURA is expressed ubiquitously, including the brain, muscle, heart, and blood.

Function

Transcriptional activator protein Pur-alpha 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.^[4]

The Pur-alpha protein is very highly conserved, with regulatory roles in DNA replication, gene transcription and RNA transport.^[5][6] It is involved in neuronal proliferation, dendrite maturation, and the transport of mRNA to translation sites during neuronal development.^[7]

Structure

Purα is a member of the Pur family of nucleic acid binding proteins which consist of a glycine-rich flexible amino terminus, a central core region and a potential carboxy-terminal protein binding region. Other family member include PURB and PURG. All human Pur proteins have three sequence-specific repeats, Pur repeats I–III.

Clinical significance

Deletion of the PURA gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia.^[4] Mutations in PURA may alter normal brain development and impair neuronal function, causing a condition being known as PURA Syndrome.

PURA is a candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. However recently, a separate condition called PURA Syndrome has been identified. De novo mutations in PURA have been reported in 21 individuals.^[5][7][8] Patients were identified by clinical whole-exome sequencing (WES). All mutations are heterozygous, with a similar phenotype of hypotonia, developmental delay, movement disorder and seizures / seizure like movements.

Protein interactions

PURA has been shown to interact with E2F1.^[9]

References

Further reading