Gene Gene information from NCBI Gene database.
Entrez ID 5813
Gene name Purine rich element binding protein A
Gene symbol PURA
Synonyms (NCBI Gene)
MRD31NEDRIHFPUR-ALPHAPUR1PURALPHA
Chromosome 5
Chromosome location 5q31.3
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 euka
SNPs SNP information provided by dbSNP.
92
SNP ID Visualize variation Clinical significance Consequence
rs587782991 TCT>- Pathogenic Inframe deletion, coding sequence variant
rs587782992 TC>-,TCTC Pathogenic Coding sequence variant, frameshift variant
rs587782993 C>T Pathogenic Coding sequence variant, stop gained
rs587782994 A>G Pathogenic Coding sequence variant, missense variant
rs587782995 T>C Pathogenic, likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1126
miRTarBase ID miRNA Experiments Reference
MIRT001425 hsa-miR-16-5p pSILAC 18668040
MIRT006998 hsa-miR-15a-5p HeLa 22835829
MIRT007001 hsa-miR-15b-5p HEK293T 22835829
MIRT001425 hsa-miR-16-5p HEK293T 22835829
MIRT007002 hsa-miR-20a-5p HEK293T 22835829
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
IRF3 Repression 21062477
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 26089202
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000781 Component Chromosome, telomeric region IC 15777841
GO:0000900 Function MRNA regulatory element binding translation repressor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600473 9701 ENSG00000185129
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00577
Protein name Transcriptional activator protein Pur-alpha (Purine-rich single-stranded DNA-binding protein alpha)
Protein 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 r
PDB 8CHT , 8CHU , 8CHV , 8CHW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04845 PurA 58 278 PurA ssDNA and RNA-binding protein Family
Sequence
Sequence length 322
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
524
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Likely pathogenic; Pathogenic rs587782996 RCV001814067
Apnea Likely pathogenic; Pathogenic rs1581036558 RCV000786859
Delayed speech and language development Pathogenic; Likely pathogenic rs587782991, rs587782992, rs587782993, rs587782994, rs587782995, rs587782996, rs587782997, rs587782998, rs587782999, rs587783000, rs587783001 RCV000144521
RCV000144522
RCV000144523
RCV000144524
RCV000144525
RCV000144526
RCV000144527
RCV000144528
RCV000144529
RCV000144530
RCV000144531
Epileptic encephalopathy Pathogenic rs1581036073 RCV001003589
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Uncertain significance rs2126749154 RCV001730153
Neurodevelopmental disorder Uncertain significance rs587782999 RCV000782038
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 32035967
Body Dysmorphic Disorders Associate 33229923
Brain Diseases Associate 33750045
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 29150892
Cutis Laxa Associate 33275834
Deafness Autosomal Dominant 31 Associate 33229923
Delayed Cranial Ossification due to CBFB Haploinsufficiency Associate 35617825
Developmental Disabilities Associate 25342064, 36651277
Drug Hypersensitivity Associate 33229923
Dyskinesia Drug Induced Associate 25342064