Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5813
Gene name Gene Name - the full gene name approved by the HGNC.
Purine rich element binding protein A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PURA
Synonyms (NCBI Gene) Gene synonyms aliases
MRD31, NEDRIHF, PUR-ALPHA, PUR1, PURALPHA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDRIHF
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.3
Summary Summary of gene provided in NCBI Entrez 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 euka
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
IRF3 Repression 21062477
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 26089202
GO:0000781 Component Chromosome, telomeric region IC 15777841
GO:0000900 Function Translation repressor activity, mRNA regulatory element binding IEA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600473 9701 ENSG00000185129
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay, Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Epilepsy Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
29942082
Hypotonia-seizures-encephalopathy syndrome Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation rs587782991, rs587782992, rs587782993, rs587782994, rs587782995, rs587782999, rs587783001, rs786204833, rs786204834, rs786204835, rs793888530, rs793888533, rs793888527, rs886039899, rs1057524637
View all (31 more)
Mental retardation Moderate intellectual disability, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
25342064, 25439098, 29097605, 27148565
Unknown
Disease term Disease name Evidence References Source
Hypertyrosinemia Hypertyrosinemia ClinVar
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Associations from Text Mining
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