• Gene id: 5813

Gene Summary

• Gene Symbol: PURA   Gene   UCSC   Ensembl
• Aliases: MRD31, PUR-ALPHA, PUR1, PURALPHA
• Gene name: purine rich element binding protein A
• Alternate names: transcriptional activator protein Pur-alpha, purine-rich single-stranded DNA-binding protein alpha,
• Gene location: 5q31.3 (140114108: 140125618)     Exons: 1     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 600473

Protein Summary

• Protein general information: Q00577  
  • Name: Transcriptional activator protein Pur alpha (Purine rich single stranded DNA binding protein alpha)
  • Length: 322  
  • Mass: 34911
• Sequence:

  MADRDSGSEQGGAALGSGGSLGHPGSGSGSGGGGGGGGGGGGSGGGGGGAPGGLQHETQELASKRVDIQNKRFYL
  DVKQNAKGRFLKIAEVGAGGNKSRLTLSMSVAVEFRDYLGDFIEHYAQLGPSQPPDLAQAQDEPRRALKSEFLVR
  ENRKYYMDLKENQRGRFLRIRQTVNRGPGLGSTQGQTIALPAQGLIEFRDALAKLIDDYGVEEEPAELPEGTSLT
  VDNKRFFFDVGSNKYGVFMRVSEVKPTYRNSITVPYKVWAKFGHTFCKYSEEMKKIQEKQREKRAACEQLHQQQQ
  QQQEETAAATLLLQGEEEGEED

• Structural information:
  • Interpro: IPR006628  IPR030500  
  • STRING: ENSP00000332706
• Other Databases: GeneCards:  PURA  Malacards:  PURA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0003690	double-stranded DNA binding	IBA	molecular function
GO:0032422	purine-rich negative regulatory element binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0032422	purine-rich negative regulatory element binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003697	single-stranded DNA binding	TAS	molecular function
GO:0006270	DNA replication initiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098963	dendritic transport of messenger ribonucleoprotein complex	IEA	biological process
GO:0050673	epithelial cell proliferation	IEA	biological process
GO:0046651	lymphocyte proliferation	IEA	biological process
GO:0046332	SMAD binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0032422	purine-rich negative regulatory element binding	IEA	molecular function
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005662	DNA replication factor A complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0000900	translation repressor activity, mRNA regulatory element binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0017148	negative regulation of translation	IEA	biological process
GO:0000784	nuclear chromosome, telomeric region	IC	cellular component
GO:0006268	DNA unwinding involved in DNA replication	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003691	double-stranded telomeric DNA binding	IDA	molecular function
GO:0008134	transcription factor binding	ISS	molecular function
GO:0003697	single-stranded DNA binding	ISS	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray