PURB purine rich element binding protein B [Homo sapiens (human)] - Gene

Summary

Official Symbol: PURBprovided by HGNC
Official Full Name: purine rich element binding protein Bprovided by HGNC
Primary source: HGNC:HGNC:9702
See related: Ensembl:ENSG00000146676 MIM:608887; AllianceGenome:HGNC:9702
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: PURBETA
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:: 7p13

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (44876299..44885530, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (45036709..45045943, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (44915898..44925129, complement)

Chromosome 7 - NC_000007.14 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?

Results showed that Purbeta ssDNA-binding activity was significantly increased in myeloid cells from AML patients suggesting that the enhanced ssDNA-binding activity of Purbeta in transformed myeloid cells may serve as a unique and measurable phenotypic trait for improving prognostic risk stratification in AML.
Title: Characterization of purine-rich element binding protein B as a novel biomarker in acute myelogenous leukemia prognostication.
site-directed mutagenesis revealed several basic amino acid residues in the intermolecular (R267) and intramolecular (K82 and R159) subdomains that are essential for Purbeta transcriptional repressor function in Acta2 promoter-reporter assays. In keeping with their diminished Acta2 repressor activity in fibroblasts, purified Purbeta variants containing an R267A mutation exhibited reduced binding affinity for purine-ric...
Title: Electrostatic and Hydrophobic Interactions Mediate Single-Stranded DNA Recognition and Acta2 Repression by Purine-Rich Element-Binding Protein B.
Suggest dynamic interplay between transcriptional activators Pur-alpha/Pur-beta and repressors in regulating SMalphaA gene output during myofibroblast differentiation.
Title: The Purα/Purβ single-strand DNA-binding proteins attenuate smooth-muscle actin gene transactivation in myofibroblasts.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
findings offer insights into mechanism, energetics, and sequence of Purbeta repressor binding to a biologically relevant, contractile phenotype-regulating cis-element while revealing the thermodynamic confines of Purbeta-mediated effects on DNA structure
Title: Mechanism of strand-specific smooth muscle alpha-actin enhancer interaction by purine-rich element binding protein B (Purbeta).
results show that PUR proteins are capable of binding to alpha-MHC mRNA and attenuate its translational efficiency; also show robust expression of PUR proteins in failing hearts where alpha-MHC mRNA levels are suppressed
Title: Single-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.

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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

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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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, purine-rich element binding protein B (PURB), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with PURB is increased by RRE	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

D10S275 (e-PCR)
- UniSTS:147992

NoName (e-PCR)
- UniSTS:483353

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

NoName (e-PCR)
- UniSTS:487017

SHGC-31275 (e-PCR)
- UniSTS:29808

NoName (e-PCR)
- UniSTS:480909

D16S325 (e-PCR)
- UniSTS:147089

A006U23 (e-PCR)
- UniSTS:14755

D7S2274 (e-PCR)
- UniSTS:78761

SGC32761 (e-PCR)
- UniSTS:1239

AA859841 (e-PCR)
- UniSTS:243947

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 DNA-binding transcription repressor activity, RNA polymerase II-specific	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 mRNA binding	ISS Inferred from Sequence or Structural Similarity 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

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of myeloid cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: transcriptional activator protein Pur-beta

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.