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Aliases for PURB Gene

Aliases for PURB Gene

  • Purine Rich Element Binding Protein B 2 3 5
  • Transcriptional Activator Protein Pur-Beta 3
  • Purine-Rich Element-Binding Protein B 4
  • PURBETA 3

External Ids for PURB Gene

Previous GeneCards Identifiers for PURB Gene

  • GC07M044570
  • GC07M044664
  • GC07M044656
  • GC07M044689
  • GC07M044882
  • GC07M044801

Summaries for PURB Gene

Entrez Gene Summary for PURB 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 PURB Gene

PURB (Purine Rich Element Binding Protein B) is a Protein Coding gene. Diseases associated with PURB include Myelodysplastic Syndrome. GO annotations related to this gene include poly(A) RNA binding and RNA binding. An important paralog of this gene is PURA.

UniProtKB/Swiss-Prot for PURB Gene

  • Has capacity to bind repeated elements in single-stranded DNA such as the purine-rich single strand of the PUR element located upstream of the MYC gene. Plays a role in the control of vascular smooth muscle (VSM) alpha-actin gene transcription as repressor in myoblasts and fibroblasts. Participates in transcriptional and translational regulation of alpha-MHC expression in cardiac myocytes by binding to the purine-rich negative regulatory (PNR) element. Modulates constitutive liver galectin-3 gene transcription by binding to its promoter. May play a role in the dendritic transport of a subset of mRNAs (By similarity).

Gene Wiki entry for PURB Gene

Additional gene information for PURB Gene

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

Genomics for PURB Gene

Regulatory Elements for PURB Gene

Enhancers for PURB 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
GH07H044613 1.9 FANTOM5 Ensembl ENCODE dbSUPER 25.4 +265.0 264994 13 HDGF FOXA2 ATF1 FEZF1 DMAP1 GTF3C2 ZNF121 FOS ATF7 RUNX3 PURB DDX56 ZMIZ2 SNORA5C POLM ENSG00000228434 SNORA5B URGCP SNORA5A TMED4
GH07H044628 2 FANTOM5 Ensembl ENCODE dbSUPER 19.8 +250.2 250181 13 HDGF PKNOX1 SIN3A FEZF1 YY1 ZNF766 ZNF143 FOS DEK JUNB DDX56 OGDH H2AFV SNORA5C PURB SNORA5B NACAD NUDCD3 TMED4 ENSG00000228434
GH07H044733 1.4 FANTOM5 Ensembl ENCODE 16.1 +149.9 149911 4 KLF17 SIN3A BATF RAD21 RFX5 GTF3C2 SCRT2 FOS ATF7 RUNX3 DDX56 POLM ENSG00000228434 PURB SNORA5C SNORA5B SNORA5A MYO1G TMED4 TBRG4
GH07H044975 1.6 FANTOM5 ENCODE dbSUPER 12 -93.5 -93538 6 PKNOX1 SIN3A FEZF1 ZNF143 ATF7 RUNX3 JUNB REST MAFF SMARCA4 CCM2 MYO1G ENSG00000260997 PURB RAMP3 SNHG15 OGDH ZMIZ2
GH07H044605 1.6 Ensembl ENCODE dbSUPER 10.2 +277.9 277855 4 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SPDYE1 ENSG00000228596 SNHG15 DDX56 ENSG00000228434 ELK1P1 PURB COA1 TBRG4 NUDCD3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PURB on UCSC Golden Path with GeneCards custom track

Promoters for PURB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000325994 85 2201 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766

Genomic Location for PURB Gene

Chromosome:
7
Start:
44,876,293 bp from pter
End:
44,885,385 bp from pter
Size:
9,093 bases
Orientation:
Minus strand

Genomic View for PURB Gene

Genes around PURB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PURB Gene

Proteins for PURB Gene

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

    Protein Symbol:
    Q96QR8-PURB_HUMAN
    Recommended name:
    Transcriptional activator protein Pur-beta
    Protein Accession:
    Q96QR8
    Secondary Accessions:
    • A4D2L7

    Protein attributes for PURB Gene

    Size:
    312 amino acids
    Molecular mass:
    33241 Da
    Quaternary structure:
    • Homodimer, heterodimer with PURA and heterotrimer with PURA and YBX1/Y-box protein 1.
    Miscellaneous:
    • Defects in PURB may be a cause of progression of myelodysplastic syndrome (MDS) towards acute myelogenous leukemia (AML). MDS refers to a heterogeneous group of closely related hematopoietic disorders. All are characterized by a cellular marrow with impaired morphology and maturation (dysmyelopoiesis) and peripheral blood cytopenias, resulting from ineffective blood cell production. Some patients with MDS develop acute myelogenous leukemia (AML), a malignant disease in which hematopoietic precursors are arrested in an early stage of development.

neXtProt entry for PURB Gene

Post-translational modifications for PURB Gene

  • Ubiquitination at isoforms=240
  • Modification sites at PhosphoSitePlus

Other Protein References for PURB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PURB Gene

Domains & Families for PURB Gene

Gene Families for PURB Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for PURB Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PURB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96QR8

UniProtKB/Swiss-Prot:

PURB_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 PURB: view

Function for PURB Gene

Molecular function for PURB Gene

UniProtKB/Swiss-Prot Function:
Has capacity to bind repeated elements in single-stranded DNA such as the purine-rich single strand of the PUR element located upstream of the MYC gene. Plays a role in the control of vascular smooth muscle (VSM) alpha-actin gene transcription as repressor in myoblasts and fibroblasts. Participates in transcriptional and translational regulation of alpha-MHC expression in cardiac myocytes by binding to the purine-rich negative regulatory (PNR) element. Modulates constitutive liver galectin-3 gene transcription by binding to its promoter. May play a role in the dendritic transport of a subset of mRNAs (By similarity).

Phenotypes From GWAS Catalog for PURB Gene

Gene Ontology (GO) - Molecular Function for PURB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IEA --
GO:0003697 single-stranded DNA binding ISS,IEA --
genes like me logo Genes that share ontologies with PURB: view

Phenotypes for PURB Gene

genes like me logo Genes that share phenotypes with PURB: view

Animal Model Products

CRISPR Products

miRNA for PURB Gene

miRTarBase miRNAs that target PURB

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PURB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PURB Gene

Localization for PURB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PURB 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 PURB gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PURB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005662 DNA replication factor A complex IEA,ISS --
genes like me logo Genes that share ontologies with PURB: view

Pathways & Interactions for PURB Gene

No Data Available

Gene Ontology (GO) - Biological Process for PURB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008283 cell proliferation IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with PURB: view

No data available for Pathways by source and SIGNOR curated interactions for PURB Gene

Drugs & Compounds for PURB Gene

No Compound Related Data Available

Transcripts for PURB Gene

mRNA/cDNA for PURB Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(320) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PURB Gene

Purine-rich element binding protein B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PURB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for PURB Gene

GeneLoc Exon Structure for
PURB
ECgene alternative splicing isoforms for
PURB

Expression for PURB Gene

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

Protein differential expression in normal tissues from HIPED for PURB Gene

This gene is overexpressed in Testis (6.3).

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



Protein tissue co-expression partners for PURB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PURB Gene:

PURB

SOURCE GeneReport for Unigene cluster for PURB Gene:

Hs.349150

mRNA Expression by UniProt/SwissProt for PURB Gene:

Q96QR8-PURB_HUMAN
Tissue specificity: Expressed in myocardium of heart failure patients.

Evidence on tissue expression from TISSUES for PURB Gene

  • Liver(4.2)
  • Lung(4.2)
  • Nervous system(3.5)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with PURB: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PURB Gene

Orthologs for PURB Gene

This gene was present in the common ancestor of animals.

Orthologs for PURB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PURB 33 34
  • 99.36 (n)
mouse
(Mus musculus)
Mammalia Purb 33 16 34
  • 93.49 (n)
rat
(Rattus norvegicus)
Mammalia Purb 33
  • 93.04 (n)
cow
(Bos Taurus)
Mammalia PURB 33 34
  • 89.71 (n)
dog
(Canis familiaris)
Mammalia H2AFV 33
  • 88.7 (n)
oppossum
(Monodelphis domestica)
Mammalia PURB 34
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PURB 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495008 33
  • 79.61 (n)
Str.11973 33
zebrafish
(Danio rerio)
Actinopterygii purbb 33 34
  • 80.23 (n)
purba 34
  • 80 (a)
OneToMany
zgc65916 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9781 33
fruit fly
(Drosophila melanogaster)
Insecta Pur-alpha 35 34
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea plp-1 34
  • 38 (a)
ManyToMany
plp-2 34
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
Species where no ortholog for PURB 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)
  • chicken (Gallus gallus)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 PURB Gene

ENSEMBL:
Gene Tree for PURB (if available)
TreeFam:
Gene Tree for PURB (if available)

Paralogs for PURB Gene

Paralogs for PURB Gene

(2) SIMAP similar genes for PURB Gene using alignment to 1 proteins:

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

Variants for PURB Gene

Sequence variations from dbSNP and Humsavar for PURB Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000077259 -- 44,877,003(+) CCAAA(A/G)AACAC utr-variant-3-prime
rs1000168378 -- 44,884,995(+) TTGAG(A/C)GCGCG reference, synonymous-codon
rs1000302089 -- 44,882,993(+) AGCCA(A/G)TTTGT upstream-variant-2KB, utr-variant-3-prime
rs1000485322 -- 44,882,714(+) GTTTA(A/T)AAAAA upstream-variant-2KB, utr-variant-3-prime
rs1000615092 -- 44,881,412(+) GTGAC(-/TGGAG)TGAAG downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv830985 CNV loss 17160897

Variation tolerance for PURB Gene

Residual Variation Intolerance Score: 26.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PURB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PURB

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

Disorders for PURB Gene

MalaCards: The human disease database

(1) MalaCards diseases for PURB Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myelodysplastic syndrome
  • myelodysplastic syndrome, somatic
- elite association - COSMIC cancer census association via MalaCards
Search PURB in MalaCards View complete list of genes associated with diseases

Relevant External Links for PURB

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

No data available for UniProtKB/Swiss-Prot and Genatlas for PURB Gene

Publications for PURB Gene

  1. Single-stranded DNA-binding proteins PURalpha and PURbeta bind to a purine-rich negative regulatory element of the alpha-myosin heavy chain gene and control transcriptional and translational regulation of the gene expression. Implications in the repression of alpha-myosin heavy chain during heart failure. (PMID: 12933792) Gupta M … Gupta MP (The Journal of biological chemistry 2003) 3 4 22 60
  2. Deletions of PURA, at 5q31, and PURB, at 7p13, in myelodysplastic syndrome and progression to acute myelogenous leukemia. (PMID: 11417483) Lezon-Geyda K … Johnson EM (Leukemia 2001) 3 4 22 60
  3. 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 60
  4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 45 60
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60

Products for PURB Gene

Sources for PURB Gene

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