PURA purine rich element binding protein A [Homo sapiens (human)] - Gene

Summary

Official Symbol: PURAprovided by HGNC
Official Full Name: purine rich element binding protein Aprovided by HGNC
Primary source: HGNC:HGNC:9701
See related: Ensembl:ENSG00000185129 MIM:600473; AllianceGenome:HGNC:9701
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PUR1; MRD31; NEDRIHF; PURALPHA; PUR-ALPHA
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 5q31.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (140114109..140125619)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (140639205..140650714)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (139493694..139505204)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DUSP8 induces TGF-beta-stimulated IL-9 transcription and Th9-mediated allergic inflammation by promoting nuclear export of Pur-alpha.
Title: DUSP8 induces TGF-β-stimulated IL-9 transcription and Th9-mediated allergic inflammation by promoting nuclear export of Pur-α.
Genome-wide CRISPR/Cas9 screening identifies a targetable MEST-PURA interaction in cancer metastasis.
Title: Genome-wide CRISPR/Cas9 screening identifies a targetable MEST-PURA interaction in cancer metastasis.
Depletion of the RNA-binding protein PURA triggers changes in posttranscriptional gene regulation and loss of P-bodies.
Title: Depletion of the RNA-binding protein PURA triggers changes in posttranscriptional gene regulation and loss of P-bodies.
Forming cytoplasmic stress granules PURalpha suppresses mRNA translation initiation of IGFBP3 to promote esophageal squamous cell carcinoma progression.
Title: Forming cytoplasmic stress granules PURα suppresses mRNA translation initiation of IGFBP3 to promote esophageal squamous cell carcinoma progression.
PURalpha Promotes the Transcriptional Activation of PCK2 in Oesophageal Squamous Cell Carcinoma Cells.
Title: PURα Promotes the Transcriptional Activation of PCK2 in Oesophageal Squamous Cell Carcinoma Cells.
Silencing of miR-144 significantly decreased the migration, invasion and colony formation potential of esophageal carcinoma cell line KYSE-410
Title: miR-144 functions as an oncomiR in KYSE-410 human esophageal carcinoma cell line in vitro and targets PURA.
Three genes in our epilepsy cohort (COQ4, DNM1, and PURA), accounting for 14% (3/21) of all novel genetic etiologies identified in patients with epilepsy, were subsequently confirmed in independent publications.
Title: Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
PURA may be a potential target of miR-144 and observed downregulation of PURA may be caused by increased expression of miR-144. The other predicted target of miR-144 SPRED1, was found to be downregulated in 69 per cent EC tissues as compared to matched distant non-malignant tissues.
Title: Potential diagnostic implications of miR-144 overexpression in human oesophageal cancer.
The results of this study emphasizes the importance of stress granules in ALS pathogenesis and identifies Pur-alpha as a novel regulator of cytoplasmic stress granules dynamics.
Title: Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity.
These findings provide definitive evidence for the role of PURA in causing a variable syndrome of neurodevelopmental delay, learning disability, neonatal hypotonia, feeding difficulties, abnormal movements and epilepsy in humans
Title: Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MedGen: C4015357 OMIM: 616158 GeneReviews: PURA-Related Neurodevelopmental Disorders	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2017-06-07) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-06-07) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of purine-rich element binding protein A (PURA) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	The interaction of Puralpha with HIV-1 RRE RNA occurs in the cytoplasm and enhances the association of HIV-1 Rev with the RRE	PubMed
	rev	HIV-1 Rev and PURA colocalize in the perinuclear compartment. The 18-50 amino-acid residues of Rev interact with the region of amino acids 73-123 in PURA	PubMed
Tat	tat	HIV-1 Tat proteins from different clades modulate differently Pur-alpha and SMAD4 to bind the JCV non-coding control region and affect differently on SMAD4 localization to the nucleus	PubMed
	tat	Puralpha interacts with HIV-1 Tat to regulate the effect of Tat transactivating the HIV-1 LTR promoter, as well as the JCV promoter and other cellular promoters	PubMed
	tat	Puralpha self-associates in an RNA dependent manner, an effect that is inhibited by HIV-1 Tat	PubMed
	tat	Puralpha-mediated inhibition of protein translation can be inhibited by HIV-1 Tat	PubMed
	tat	HIV-1 Tat cooperates with Puralpha, cyclin T1, and CDK9 to activate the TNFalpha promoter and upregulate TNFalpha expression	PubMed
	tat	Expression of HIV-1 Tat in human SK-N-MC cells inhibits the NGF-signaling pathway leading to suppression of MAPK and reduction of Puralpha binding to the Egr-1 promoter	PubMed
	tat	Binding of HIV-1 Tat to Puralpha is mediated through amino acids 49-72 of Tat and 100-121 of Puralpha, and is enhanced by RNA	PubMed
	tat	HIV-1 Tat downregulates the expression of p35, a neuron-specific activator of cdk5, and also binds to Puralpha, which associates with cdk5, leading to deregulation of neuronal differentiation and survival	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483914

PURA__5615 (e-PCR)
- UniSTS:463836

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA binding	HDA more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables SMAD binding	IEA Inferred from Electronic Annotation more info
enables double-stranded telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA regulatory element binding translation repressor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables purine-rich negative regulatory element binding	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables transcription regulator inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA replication initiation	TAS Traceable Author Statement more info	PubMed
involved_in DNA unwinding involved in DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in dendritic transport of messenger ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in lymphocyte proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of translation	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	IC Inferred by Curator more info	PubMed
located_in dendrite cytoplasm	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transcriptional activator protein Pur-alpha

Names: purine-rich single-stranded DNA-binding protein alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.