PURA Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PURA |
| Official Name | purine rich element binding protein A [Source:HGNC Symbol;Acc:HGNC:9701] |
| Ensembl ID | ENSG00000185129 |
| Bio databases IDs | |
| Aliases | purine rich element binding protein A |
| Synonyms | 6330411E07Rik, CAGER-1, MRD31, NEDRIHF, PUR1, PUR-ALPHA, purine rich element binding protein A, PUR-α, ssCRE-BP, VACSSBF1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PURA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PUR domain
- SMAD binding
- glycine rich domain
- transcription regulator
- PurA ssDNA and RNA-binding protein
- nucleic acid binding
- transcription factor binding
- protein binding
- glutamine-rich domain
- sequence-specific DNA binding
- DNA binding
- Protein of unknown function (DUF3276)
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- leucine-rich repeat
- double-stranded telomeric DNA binding
- single-stranded DNA binding
- double-stranded DNA binding
- nucleic acid binding translation repressor
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant mental retardation type 31
- hereditary disorder
- mental retardation
- gait disturbance
- weight gain
- esophageal squamous cell carcinoma
- esophageal squamous cell cancer
- prostate cancer
- developmental disorder
- PURA syndrome
role in cell
- expression in
- cell death
- proliferation
- quantity
- abnormal morphology
- formation
- size
- translation in
- function in
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- polyribosome fractions
- glutaminergic synapse
- Cytoplasm
- postsynaptic region
- synapse
- perikaryon
- dendrites
- postsynaptic density
- plasma
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PURA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- DNA-dependent DNA replication initiation
- epithelial cell proliferation
- lymphocyte proliferation
- positive regulation of cell proliferation
- nervous system development
- negative regulation of translation
- DNA unwinding involved in replication
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nucleus
- dendrite cytoplasm
- neuronal cell body
Molecular Function
What the gene product does at the molecular level
- RNA binding
- protein binding
- SMAD binding
- translation repressor activity, nucleic acid binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- double-stranded telomeric DNA binding
- purine-rich negative regulatory element binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- single-stranded DNA binding