Human Gene PURA (uc003lfa.3) Description and Page Index
  Description: Homo sapiens purine-rich element binding protein A (PURA), mRNA.
RefSeq Summary (NM_005859): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC036087.1, DRR138524.233110.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr5:139,493,708-139,499,001 Size: 5,294 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr5:139,493,767-139,494,735 Size: 969 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:139,493,708-139,499,001)mRNA (may differ from genome)Protein (322 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: PURA_HUMAN
DESCRIPTION: RecName: Full=Transcriptional activator protein Pur-alpha; AltName: Full=Purine-rich single-stranded DNA-binding protein alpha;
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.
SUBUNIT: Homodimer, heterodimer with PURB and heterotrimer with PURB and YBX1/Y-box protein 1 (By similarity).
INTERACTION: P06400:RB1; NbExp=6; IntAct=EBI-1045860, EBI-491274;
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Belongs to the PUR DNA-binding protein family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PURA
CDC HuGE Published Literature: PURA

-  MalaCards Disease Associations
  MalaCards Gene Search: PURA
Diseases sorted by gene-association score: mental retardation, autosomal dominant 31* (1680), alacrima, achalasia, and mental retardation syndrome* (133), visual epilepsy* (92), seizure disorder* (87), intellectual disability* (74), severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion* (25), 5q31.3 microdeletion syndrome (18), bladder neck obstruction (11), learning disability (11), fragile x tremor/ataxia syndrome (11), bacterial conjunctivitis (9), tick-borne relapsing fever (6), relapsing fever (6), croup (5), myelodysplastic syndrome (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.15 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 218.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.6059-0.332 Picture PostScript Text
3' UTR -1035.944266-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006628 - PUR_DNA_RNA-bd

Pfam Domains:
PF04845 - PurA ssDNA and RNA-binding protein

ModBase Predicted Comparative 3D Structure on Q00577
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
  Ensembl WormBase 
  Protein Sequence Protein Sequence 
  Alignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000900 translation repressor activity, nucleic acid binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003690 double-stranded DNA binding
GO:0003691 double-stranded telomeric DNA binding
GO:0003697 single-stranded DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0032422 purine-rich negative regulatory element binding
GO:0046332 SMAD binding

Biological Process:
GO:0006268 DNA unwinding involved in DNA replication
GO:0006270 DNA replication initiation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007399 nervous system development
GO:0008284 positive regulation of cell proliferation
GO:0017148 negative regulation of translation
GO:0030154 cell differentiation
GO:0042127 regulation of cell proliferation
GO:0045892 negative regulation of transcription, DNA-templated

Cellular Component:
GO:0000784 nuclear chromosome, telomeric region
GO:0005634 nucleus
GO:0005662 DNA replication factor A complex
GO:0005737 cytoplasm
GO:0030425 dendrite
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  M96684 - H.sapiens Pur (pur-alpha) mRNA, complete cds.
BC110574 - Homo sapiens purine-rich element binding protein A, mRNA (cDNA clone IMAGE:40004320), partial cds.
BC110594 - Homo sapiens purine-rich element binding protein A, mRNA (cDNA clone IMAGE:40016155), partial cds.
BC036087 - Homo sapiens purine-rich element binding protein A, mRNA (cDNA clone MGC:33782 IMAGE:5284976), complete cds.
AB464679 - Synthetic construct DNA, clone: pF1KB9641, Homo sapiens PURA gene for purine-rich element binding protein A, without stop codon, in Flexi system.
BT019388 - Homo sapiens purine-rich element binding protein A mRNA, complete cds.
JD495994 - Sequence 477018 from Patent EP1572962.
X91648 - H.sapiens mRNA for pur alpha extended 3'untranslated region.
JD050254 - Sequence 31278 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_005859, NP_005850, PUR1, PURA_HUMAN, Q00577
UCSC ID: uc003lfa.3
RefSeq Accession: NM_005859
Protein: Q00577 (aka PURA_HUMAN)
CCDS: CCDS4220.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PURA:
pura-dis (PURA-Related Neurodevelopmental Disorders)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005859.4
exon count: 1CDS single in 3' UTR: no RNA size: 5304
ORF size: 969CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2138.00frame shift in genome: no % Coverage: 99.81
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.