Free for academic non-profit institutions. Other users need a Commercial license

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
  • PUR1 3 4
  • Transcriptional Activator Protein Pur-Alpha 3
  • 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 Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion. Among its related pathways are Diurnally Regulated Genes with Circadian Orthologs. GO annotations related to this gene include poly(A) RNA binding and transcription factor binding. An important paralog of this gene is PURB.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PURA Gene

Genomics for PURA Gene

Regulatory Elements for PURA Gene

Enhancers for PURA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G139381 1.9 FANTOM5 Ensembl ENCODE dbSUPER 28.6 -718.1 -718060 15.5 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 DNAJC18 PURA SLC23A1 PAIP2 SIL1 MATR3 PROB1 MZB1
GH05G139517 1.8 FANTOM5 Ensembl ENCODE 29 -589.6 -589602 1.9 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 ZNF416 ZNF143 ZNF263 SP3 MEF2D PURA IGIP DNAJC18 SLC23A1 ETF1 LINC01024 PSD2 MATR3 UBE2D2 PIR33843
GH05G140399 1.2 ENCODE 28.4 +294.3 294252 4.7 CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 PURA PCDHA2 SRA1 CD14 PCDHA1 PCDHGA6 HARS EIF4EBP3 PCDHA3 PCDHA5
GH05G139962 1.2 ENCODE 27.8 -145.8 -145796 1.2 CREB3L1 AGO1 DMAP1 FEZF1 YY1 ZNF143 ZNF263 SP3 ZNF610 ZNF585B PURA TMCO6 PSD2 PCDHA3 GC05P139956 GC05P140021
GH05G140291 1.5 Ensembl ENCODE dbSUPER 21.7 +187.9 187852 7.9 HNRNPUL1 PKNOX1 FEZF1 ZNF2 GATA2 ZNF143 FOS KLF7 ZNF263 SP3 PURA PFDN1 PCDHB18P CYSTM1 GC05M140174
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PURA on UCSC Golden Path with GeneCards custom track

Promoters for PURA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000187728 423 2001 HDGF HNRNPUL1 PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2

Genomic Location for PURA Gene

Chromosome:
5
Start:
140,107,777 bp from pter
End:
140,125,619 bp from pter
Size:
17,843 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 isoforms=229, Lys239, and Lys262
  • Modification sites at PhosphoSitePlus

Other Protein References for PURA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for PURA
  • Santa Cruz Biotechnology (SCBT) Antibodies for PURA

No data available for DME Specific Peptides for PURA Gene

Domains & Families for PURA Gene

Protein Domains for PURA Gene

InterPro:
ProtoNet:

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

No data available for Gene Families for PURA Gene

Function for PURA Gene

Molecular function for PURA Gene

GENATLAS Biochemistry:
single-stranded DNA binding protein A with specific affinity for a purine-rich element (GGN)n
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.

Gene Ontology (GO) - Molecular Function for PURA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000900 translation repressor activity, nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IEA --
GO:0003691 double-stranded telomeric DNA binding IDA 15777841
GO:0003697 single-stranded DNA binding TAS,ISS --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
cytosol 2
cytoskeleton 1
mitochondrion 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 IEA,IDA 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

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

Gene Ontology (GO) - Biological Process for PURA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006268 DNA unwinding involved in DNA replication IDA 15777841
GO:0006270 DNA replication initiation TAS 1545807
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with PURA: view

No data available for SIGNOR curated interactions for PURA Gene

Drugs & Compounds for PURA Gene

(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

Unigene Clusters for PURA Gene

Purine-rich element binding protein A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
PURA

Expression for PURA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PURA Gene



Protein tissue co-expression partners for PURA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PURA Gene:

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
Organs:
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

Primer Products

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 34 35
  • 99.9 (n)
dog
(Canis familiaris)
Mammalia PURA 34 35
  • 97.83 (n)
cow
(Bos Taurus)
Mammalia PURA 34 35
  • 96.48 (n)
rat
(Rattus norvegicus)
Mammalia Pura 34
  • 95.85 (n)
mouse
(Mus musculus)
Mammalia Pura 34 16 35
  • 95.74 (n)
oppossum
(Monodelphis domestica)
Mammalia PURA 35
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves PURB 34
  • 92.51 (n)
PURA 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pura 34
  • 82.91 (n)
zebrafish
(Danio rerio)
Actinopterygii pura 34 35
  • 84.18 (n)
PURA (1 of 2) 35
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pur-alpha 36 35
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea plp-1 35
  • 35 (a)
ManyToMany
plp-2 35
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for PURA Gene

Paralogs for PURA Gene

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

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

Variants for PURA Gene

Sequence variations from dbSNP and Humsavar for PURA Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs587782994 Pathogenic, Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158] 140,114,470(+) GCAAC(A/G)AGAGC reference, missense
rs587782995 Pathogenic, Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158] 140,114,480(+) CCGCC(C/T)TACTC reference, missense
rs587782998 Pathogenic, Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158] 140,114,651(+) CTACA(A/T)GGATC reference, missense
rs587782999 Pathogenic, Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158] 140,114,446(+) AGATC(C/G)CCGAG reference, missense
rs587783001 Pathogenic, Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158] 140,114,777(+) GTTCC(C/G)TGACG reference, missense

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)

Relevant External Links for PURA Gene

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

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

Disorders for PURA Gene

MalaCards: The human disease database

(13) MalaCards diseases for PURA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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.

Relevant External Links for PURA

Genetic Association Database (GAD)
PURA
Human Genome Epidemiology (HuGE) Navigator
PURA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PURA
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 A.D. … Johnson E.M. (Mol. Cell. Biol. 1992) 2 3 4 22 64
  2. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. (PMID: 25439098) Lalani S.R. … Xia F. (Am. J. Hum. Genet. 2014) 3 4 64
  3. 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. (J. Med. Genet. 2014) 3 4 64
  4. Multiple roles for Puralpha in cellular and viral regulation. (PMID: 19182532) White M.K. … Khalili K. (Cell Cycle 2009) 3 22 64
  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 R.H. (Prostate 2009) 3 22 64

Products for PURA Gene

Sources for PURA Gene

Content
Loading form....