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 ... See more...

Aliases for PURA Gene

Aliases for PURA Gene

  • Purine Rich Element Binding Protein A 2 3 5
  • Purine-Rich Single-Stranded DNA-Binding Protein Alpha 3 4
  • Transcriptional Activator Protein Pur-Alpha 3 4
  • PUR1 3 4
  • PUR-ALPHA 3
  • PURALPHA 3
  • MRD31 3

External Ids for PURA Gene

Previous GeneCards Identifiers for PURA Gene

  • GC05P139316
  • GC05P139476
  • GC05P139522
  • GC05P139473
  • GC05P134636

Summaries for PURA Gene

Entrez Gene Summary for PURA 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]

GeneCards Summary for PURA Gene

PURA (Purine Rich Element Binding Protein A) is a Protein Coding gene. Diseases associated with PURA include Mental Retardation, Autosomal Dominant 31 and Pura-Related Neurodevelopmental Disorders. Among its related pathways are Diurnally Regulated Genes with Circadian Orthologs. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is PURB.

UniProtKB/Swiss-Prot Summary for PURA Gene

  • This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene. May play a role in the initiation of DNA replication and in recombination.

Gene Wiki entry for PURA Gene

Additional gene information for PURA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PURA Gene

Genomics for PURA Gene

GeneHancer (GH) Regulatory Elements for PURA Gene

Promoters and enhancers for PURA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J140106 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 510.3 +0.9 860 4.7 HNRNPK ZNF217 EP300 CTCF ZSCAN5C NRF1 POLR2G GTF2E2 PHF8 ZFX PURA lnc-IGIP-1 HARS2 IK UBE2D2 APBB3 ANKHD1 TMCO6 piR-30317 MALINC1
GH05J139517 Promoter/Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas 66.4 -589.6 -589602 1.9 ZBTB40 ZNF217 CTCF NRF1 TCF12 POLR2G SP1 NCOR1 RBAK GTF2E2 PURA ANKHD1 MALINC1 IGIP DNAJC18 MATR3 SLC23A1 ETF1 CTNNA1 PSD2
GH05J139292 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 44.2 -812.9 -812876 5 ZBTB40 EP300 CTCF SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 PHF8 SIL1 lnc-SIL1-3 MATR3 PURA RPL7P19 DNAJC18 CTNNA1 KDM3B RF00001-264 RNA5SP195
GH05J140717 Promoter/Enhancer 1.4 Ensembl ENCODE 62.3 +611.5 611517 3 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C TCF12 NCOR1 JUND PHB2 FOS VTRNA1-2 PURA PCDHB18P PCDHB19P PCDHB15 PCDHB12 PCDHB3 PCDHB9 PCDHB13 PCDHB7
GH05J139341 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 37.2 -765.1 -765076 4.2 EP300 ZBTB40 ZNF217 CTCF ZSCAN5C NRF1 TCF12 MYC USF1 POLR2G NONHSAG041694.2 PAIP2 KDM3B PURA RPL7P19 SLC23A1 MZB1 PROB1 MATR3 SNORA74A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PURA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PURA

Top Transcription factor binding sites by QIAGEN in the PURA gene promoter:
  • c-Myc
  • E2F-3a
  • E2F-4
  • E2F-5
  • Egr-1
  • Max
  • Max1
  • MZF-1
  • Oct-B1
  • Sp1

Genomic Locations for PURA Gene

Genomic Locations for PURA Gene
chr5:140,107,777-140,125,619
(GRCh38/hg38)
Size:
17,843 bases
Orientation:
Plus strand
chr5:139,487,362-139,499,001
(GRCh37/hg19)
Size:
11,640 bases
Orientation:
Plus strand

Genomic View for PURA Gene

Genes around PURA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PURA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PURA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PURA Gene

Proteins for PURA Gene

  • Protein details for PURA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00577-PURA_HUMAN
    Recommended name:
    Transcriptional activator protein Pur-alpha
    Protein Accession:
    Q00577

    Protein attributes for PURA Gene

    Size:
    322 amino acids
    Molecular mass:
    34911 Da
    Quaternary structure:
    • Homodimer, heterodimer with PURB and heterotrimer with PURB and YBX1/Y-box protein 1. Interacts with FMR1; this interaction occurs in association with polyribosome.

neXtProt entry for PURA Gene

Post-translational modifications for PURA Gene

  • Ubiquitination at Lys229, Lys239, and Lys262
  • Modification sites at PhosphoSitePlus

Other Protein References for PURA Gene

No data available for DME Specific Peptides for PURA Gene

Domains & Families for PURA Gene

Gene Families for PURA Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for PURA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PURA Gene

GenScript: Design optimal peptide antigens:
  • Purine-rich single-stranded DNA-binding protein alpha (PURA_HUMAN)
  • PURA protein (Q2NLC9_HUMAN)
  • PURA protein (Q2NLD4_HUMAN)
  • Purine-rich element binding protein A (Q56A79_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00577

UniProtKB/Swiss-Prot:

PURA_HUMAN :
  • Belongs to the PUR DNA-binding protein family.
Family:
  • Belongs to the PUR DNA-binding protein family.
genes like me logo Genes that share domains with PURA: view

Function for PURA Gene

Molecular function for PURA Gene

UniProtKB/Swiss-Prot 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. May play a role in the initiation of DNA replication and in recombination.
GENATLAS Biochemistry:
single-stranded DNA binding protein A with specific affinity for a purine-rich element (GGN)n

Phenotypes From GWAS Catalog for PURA Gene

Gene Ontology (GO) - Molecular Function for PURA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000900 translation repressor activity, mRNA regulatory element binding IEA --
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific TAS 9334258
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IBA 21873635
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with PURA: view
genes like me logo Genes that share phenotypes with PURA: view

Human Phenotype Ontology for PURA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PURA Gene

MGI Knock Outs for PURA:

Animal Model Products

CRISPR Products

miRNA for PURA Gene

miRTarBase miRNAs that target PURA

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PURA Gene

Localization for PURA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PURA Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PURA gene
Compartment Confidence
nucleus 5
cytoskeleton 2
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PURA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IC 15777841
GO:0005634 nucleus IDA,IBA 9716182
GO:0005662 DNA replication factor A complex IEA,ISS --
GO:0005737 cytoplasm IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with PURA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PURA Gene

Pathways & Interactions for PURA Gene

genes like me logo Genes that share pathways with PURA: view

Pathways by source for PURA Gene

1 BioSystems pathway for PURA Gene

SIGNOR curated interactions for PURA Gene

Inactivates:

Gene Ontology (GO) - Biological Process for PURA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006268 DNA unwinding involved in DNA replication IDA 15777841
GO:0006270 DNA replication initiation TAS 1545807
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with PURA: view

Drugs & Compounds for PURA Gene

(12) Drugs for PURA Gene - From: DrugBank and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyrophosphoric acid Approved, Experimental Pharma Target 0
Methylphenidate Approved, Investigational Pharma 418
(C8-R)-hydantocidin 5'-phosphate Experimental Pharma Target 0
(C8-S)-Hydantocidin 5'-Phosphate Experimental Pharma Target 0
(Carboxyhydroxyamino)Ethanoic Acid Experimental Pharma Target, Target 0

(1) Additional Compounds for PURA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PURA: view

Transcripts for PURA Gene

mRNA/cDNA for PURA Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PURA Gene

No ASD Table

Relevant External Links for PURA Gene

GeneLoc Exon Structure for
PURA

Expression for PURA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PURA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PURA Gene

This gene is overexpressed in Brain (11.5) and Retina (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PURA Gene



Protein tissue co-expression partners for PURA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PURA

SOURCE GeneReport for Unigene cluster for PURA Gene:

Hs.443121

Evidence on tissue expression from TISSUES for PURA Gene

  • Liver(4.4)
  • Nervous system(3.4)
  • Muscle(2.6)
  • Kidney(2.2)
  • Heart(2.1)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PURA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • skull
Thorax:
  • lung
General:
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with PURA: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PURA Gene

Orthologs for PURA Gene

This gene was present in the common ancestor of animals.

Orthologs for PURA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PURA 31 30
  • 99.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PURA 31 30
  • 97.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PURA 31 30
  • 96.48 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pura 30
  • 95.85 (n)
mouse
(Mus musculus)
Mammalia Pura 17 31 30
  • 95.74 (n)
oppossum
(Monodelphis domestica)
Mammalia PURA 31
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves PURB 30
  • 92.51 (n)
PURA 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pura 30
  • 82.91 (n)
zebrafish
(Danio rerio)
Actinopterygii pura 31 30
  • 84.18 (n)
OneToMany
PURA (1 of 2) 31
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pur-alpha 31 32
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea plp-1 31
  • 35 (a)
ManyToMany
plp-2 31
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToMany
Species where no ortholog for PURA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PURA Gene

ENSEMBL:
Gene Tree for PURA (if available)
TreeFam:
Gene Tree for PURA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PURA: view image

Paralogs for PURA Gene

Paralogs for PURA Gene

(2) SIMAP similar genes for PURA Gene using alignment to 4 proteins:

  • PURA_HUMAN
  • Q2NLC9_HUMAN
  • Q2NLD4_HUMAN
  • Q56A79_HUMAN
genes like me logo Genes that share paralogs with PURA: view

Variants for PURA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PURA Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
624066 Uncertain Significance: not provided 140,114,310(+) TGGCGGC/T INFRAME_DELETION
635405 Pathogenic/Likely Pathogenic: Generalized hypotonia; Apnea; Limb dystonia; Mental retardation, autosomal dominant 31 140,114,821(+) G/T NONSENSE
639596 Uncertain Significance: Mental retardation, autosomal dominant 31 140,114,295(+) G/GGGCGGCGGCGGCA INFRAME_INSERTION
645290 Pathogenic: Mental retardation, autosomal dominant 31 140,114,492(+) TG/T FRAMESHIFT_VARIANT
647997 Uncertain Significance: Mental retardation, autosomal dominant 31 140,114,298(+) CGGCGGCGGCAGT/C INFRAME_DELETION

Additional dbSNP identifiers (rs#s) for PURA Gene

Structural Variations from Database of Genomic Variants (DGV) for PURA Gene

Variant ID Type Subtype PubMed ID
nsv1074333 CNV deletion 25765185
nsv950413 CNV duplication 24416366

Variation tolerance for PURA Gene

Residual Variation Intolerance Score: 25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PURA Gene

Human Gene Mutation Database (HGMD)
PURA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PURA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PURA Gene

Disorders for PURA Gene

MalaCards: The human disease database

(14) MalaCards diseases for PURA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 31
  • mrd31
pura-related neurodevelopmental disorders
  • pura syndrome
visual epilepsy
  • epilepsy, visual
alacrima, achalasia, and mental retardation syndrome
  • aamr
5q31.3 microdeletion syndrome
  • severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- elite association - COSMIC cancer census association via MalaCards
Search PURA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PURA_HUMAN
  • Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD31 patients manifest neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay. {ECO:0000269 PubMed:25342064, ECO:0000269 PubMed:25439098}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PURA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PURA: view

No data available for Genatlas for PURA Gene

Publications for PURA Gene

  1. Sequence of cDNA comprising the human pur gene and sequence-specific single-stranded-DNA-binding properties of the encoded protein. (PMID: 1448097) Bergemann AD … Johnson EM (Molecular and cellular biology 1992) 2 3 4 23 54
  2. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. (PMID: 25342064) Hunt D … Baralle D (Journal of medical genetics 2014) 2 3 4 54
  3. PURA-Related Neurodevelopmental Disorders (PMID: 28448108) Reijnders MRF … Hunt D (GeneReviews® 2017) 2 3 54
  4. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. (PMID: 25439098) Lalani SR … Xia F (American journal of human genetics 2014) 3 4 54
  5. Purine-rich element binding protein (PUR) alpha induces endoplasmic reticulum stress response, and cell differentiation pathways in prostate cancer cells. (PMID: 19267365) Inoue T … Getzenberg RH (The Prostate 2009) 3 23 54

Products for PURA Gene