PURA

Protein identityUniProt · HPA

UniProt accession

Q00577

Gene

PURA

Ensembl

ENSG00000185129

Chromosome

5

Canonical length

322 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors

Quaternary structure

Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

322 residues, UniProt reviewed canonical sequence.

>Q00577|PURA
     1  MADRDSGSEQ GGAALGSGGS LGHPGSGSGS GGGGGGGGGG GGSGGGGGGA PGGLQHETQE
    61  LASKRVDIQN KRFYLDVKQN AKGRFLKIAE VGAGGNKSRL TLSMSVAVEF RDYLGDFIEH
   121  YAQLGPSQPP DLAQAQDEPR RALKSEFLVR ENRKYYMDLK ENQRGRFLRI RQTVNRGPGL
   181  GSTQGQTIAL PAQGLIEFRD ALAKLIDDYG VEEEPAELPE GTSLTVDNKR FFFDVGSNKY
   241  GVFMRVSEVK PTYRNSITVP YKVWAKFGHT FCKYSEEMKK IQEKQREKRA ACEQLHQQQQ
   301  QQQEETAAAT LLLQGEEEGE ED

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PURA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

13 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PURA.

Disease | AllUniProt

Conditions PURA is implicated in, by any mechanism.

• Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) MIM:616158

Disease | GeneticClinVar

220 pathogenic / likely-pathogenic of 628 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
• Inborn genetic diseases
• Intellectual disability
• Neonatal hypotonia
• Delayed speech and language development

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.34

gnomAD pLI

0.94

gnomAD missense Z

3.37

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• dendritic transport of messenger ribonucleoprotein complex
• DNA replication initiation
• epithelial cell proliferation
• lymphocyte proliferation
• negative regulation of transcription by RNA polymerase II
• nervous system development
• positive regulation of cell population proliferation
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription factor binding
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• double-stranded telomeric DNA binding
• mRNA regulatory element binding translation repressor activity
• purine-rich negative regulatory element binding
• RNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• single-stranded DNA binding
• SMAD binding
• transcription regulator inhibitor activity

Cellular components

• chromosome, telomeric region
• cytoplasm
• dendrite
• glutamatergic synapse
• neuronal cell body
• nucleus
• postsynapse

Protein domainsUniProt · Pfam · InterPro

• Purine-rich element binding protein family
• PurA ssDNA and RNA-binding protein

KeywordsUniProt

• Acetylation
• Activator
• DNA-binding
• Intellectual disability
• Nucleus
• Phosphoprotein
• Repeat
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of PURA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FMR1
• FAM120A
• RB1
• RPS10