• Gene id: 6688

Gene Summary

• Gene Symbol: SPI1   Gene   UCSC   Ensembl
• Aliases: OF, PU.1, SFPI1, SPI-1, SPI-A
• Gene name: Spi-1 proto-oncogene
• Alternate names: transcription factor PU.1, 31 kDa transforming protein, hematopoietic transcription factor PU.1, spleen focus forming virus (SFFV) proviral integration oncogene spi1,
• Gene location: 11p11.2 (47395639: 47354858)     Exons: 8     NC_000011.10
• Gene summary(Entrez): This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regul
• OMIM: 165170

Protein Summary

• Protein general information: P17947  
  • Name: Transcription factor PU.1 (31 kDa transforming protein)
  • Length: 270  
  • Mass: 31083
• Sequence:

  MLQACKMEGFPLVPPPSEDLVPYDTDLYQRQTHEYYPYLSSDGESHSDHYWDFHPHHVHSEFESFAENNFTELQS
  VQPPQLQQLYRHMELEQMHVLDTPMVPPHPSLGHQVSYLPRMCLQYPSLSPAQPSSDEEEGERQSPPLEVSDGEA
  DGLEPGPGLLPGETGSKKKIRLYQFLLDLLRSGDMKDSIWWVDKDKGTFQFSSKHKEALAHRWGIQKGNRKKMTY
  QKMARALRNYGKTGEVKKVKKKLTYQFSGEVLGRGGLAERRHPPH

• Structural information:
  • Interpro: IPR000418  IPR036388  IPR036390  
  • Prosite: PS00345 PS00346 PS50061
  • DIP: 953
  • STRING: ENSP00000227163
• Other Databases: GeneCards:  SPI1  Malacards:  SPI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070102	interleukin-6-mediated signaling pathway	IDA	biological process
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0008134	transcription factor binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	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:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001944	vasculature development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030098	lymphocyte differentiation	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0030851	granulocyte differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045347	negative regulation of MHC class II biosynthetic process	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0051525	NFAT protein binding	IEA	molecular function
GO:1902262	apoptotic process involved in blood vessel morphogenesis	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0002320	lymphoid progenitor cell differentiation	IEA	biological process
GO:0002573	myeloid leukocyte differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030225	macrophage differentiation	IEA	biological process
GO:0035019	somatic stem cell population maintenance	IEA	biological process
GO:0043011	myeloid dendritic cell differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0060033	anatomical structure regression	IEA	biological process
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0071361	cellular response to ethanol	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0001085	RNA polymerase II transcription factor binding	ISS	molecular function
GO:0051525	NFAT protein binding	ISS	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IDA	biological process
GO:0045646	regulation of erythrocyte differentiation	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045814	negative regulation of gene expression, epigenetic	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0044027	hypermethylation of CpG island	IDA	biological process
GO:0090241	negative regulation of histone H4 acetylation	IMP	biological process
GO:0043966	histone H3 acetylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05166	Human T-cell leukemia virus 1 infection
hsa05202	Transcriptional misregulation in cancer
hsa04380	Osteoclast differentiation
hsa05221	Acute myeloid leukemia

Diseases

Associated diseases	References
Acute myeloid leukemia	KEGG:H00003
Acute myeloid leukemia	KEGG:H00003
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R