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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the nervous system Likely pathogenic; Pathogenic rs587782996 RCV001814067
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Apnea Likely pathogenic; Pathogenic rs1581036558 RCV000786859
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development Pathogenic; Likely pathogenic rs587782991, rs587782992, rs587782993, rs587782994, rs587782995, rs587782996, rs587782997, rs587782998, rs587782999, rs587783000, rs587783001 RCV000144521
RCV000144522
RCV000144523
RCV000144524
RCV000144525
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy Pathogenic rs1581036073 RCV001003589
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COMPLEX NEURODEVELOPMENTAL DISORDER ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY, VISUAL ANOMALIES, PROGRESSIVE CEREBELLAR ATROPHY, TRUNCAL HYPOTONIA SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28980860
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 32035967 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 29150892
★☆☆☆☆
Found in Text Mining only
Awakening Epilepsy Epilepsy CTD_human_DG 29942082
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 33750045 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Choreoathetosis Choreoathetosis CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Cutis Laxa Cutis laxa Pubtator 33275834 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 25342064, 36651277 Associate
★☆☆☆☆
Found in Text Mining only