protein
Transcriptional activator protein Pur-alpha
Gene
PURA
Organism
Homo sapiens(9606)
Length
322 aa
Mass
34,911 Da
Pur-alpha (PURA) is a transcriptional activator protein that specifically binds purine-rich DNA sequences, particularly the PUR element upstream of the MYC gene (UniProt: Q00577). It likely plays roles in transcriptional regulation, DNA replication initiation, and recombination.
PURA is associated with neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF), an autosomal dominant condition characterized by severe neonatal hypotonia, respiratory and feeding difficulties, encephalopathy, and severe developmental delay. Additional features include seizures, exaggerated startle reflex, abnormal movements, and dysmorphic facial features (UniProt: Q00577).
PURA is classified as a category 2 syndromic autism-associated gene in the SFARI database (SFARI Cat 2), indicating evidence for involvement in syndromic autism presentations linked to its neurodevelopmental disease associations.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↓ Down in ADP3
-0.488
P2
not detected
S2
not detected
S3
not detected
Mean log₂FC across detected fractions: -0.488 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
This protein is implicated in both ASD and Alzheimer's Disease. View all cross-disease proteins →
Related Publications
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Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene (PubMed:1448097, PubMed:20976240). May play a role in the initiation of DNA replication and in recombination
Disease associations
Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficultiesNEDRIHF
An autosomal dominant disorder characterized by severe neonatal hypotonia, respiratory and feeding difficulties, encephalopathy, and severe developmental delay. Additional common features may include seizures, exaggerated startle reflex, abnormal movements, and dysmorphic facial features.
Sources
Last updated 5/8/2026, 1:11:07 AM