Gene Gene information from NCBI Gene database.
Entrez ID 6688
Gene name Spi-1 proto-oncogene
Gene symbol SPI1
Synonyms (NCBI Gene)
AGM10OFPU.1SFPI1SPI-1SPI-A
Chromosome 11
Chromosome location 11p11.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
105
miRTarBase ID miRNA Experiments Reference
MIRT004282 hsa-miR-155-5p Luciferase reporter assay 19386588
MIRT004282 hsa-miR-155-5p Luciferase reporter assay 19386588
MIRT004629 hsa-miR-342-3p Review 20026422
MIRT004827 hsa-miR-569 Luciferase reporter assay 21360505
MIRT005724 hsa-miR-34a-5p Luciferase reporter assay 20598588
Transcription factors Transcription factors information provided by TRRUST V2 database.
10
Transcription factor Regulation Reference
CEBPA Unknown 24429361
CEBPE Repression 12202480
FOS Repression 9988737
GATA1 Repression 10753833
GATA2 Repression 19620289
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
130
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 28362429
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 10867017
GO:0000785 Component Chromatin IDA 15304486
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
165170 11241 ENSG00000066336
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17947
Protein name Transcription factor PU.1 (31 kDa-transforming protein)
Protein function Pioneer transcription factor, which controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing other transcription factors to enter otherwise inaccessible genomic sites. Once in open chromatin, can directly control g
PDB 8E3K , 8E3R , 8E4H , 8E5Y , 8EBH , 8EE9 , 8EJ6 , 8EJ8 , 8EK3 , 8EK8 , 8EKJ , 8EKU , 8EKV , 8EKZ , 8EM9 , 8EMD , 8ENG , 8EO1 , 8EO4 , 8EQG , 8EQK , 8EQL , 8T9U , 8UFF , 8UFK , 8UFZ , 8UHK , 8V9N , 8VDH , 8VDI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00178 Ets 171 253 Ets-domain Domain
Tissue specificity TISSUE SPECIFICITY: In the bone marrow, concentrated in hematopoietic stem cell, lymphoid progenitor, myeloid lineage (granulocyte macrophage progenitors, classical dendritic cells, monocytes) and B-cell clusters. Among B-cells, predominantly expressed in
Sequence
MLQACKMEGFPLVPPPSEDLVPYDTDLYQRQTHEYYPYLSSDGESHSDHYWDFHPHHVHS
EFESFAENNFTELQSVQPPQLQQLYRHMELEQMHVLDTPMVPPHPSLGHQVSYLPRMCLQ
YPSLSPAQPSSDEEEGERQSPPLEVSDGEADGLEPGPGLLPGETGSKKKIRLYQFLLDLL
RSGDMKDSIWWVDKDKGTFQFSSKHKEALAHRWGIQKGNRKKMTYQKMARALRNYGKTGE
VKKVKKKLTYQFS
GEVLGRGGLAERRHPPH
Sequence length 270
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
26
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Agammaglobulinemia Pathogenic; Likely pathogenic rs2095916574, rs1565638431, rs2095906547, rs2095906404, rs773877800, rs2142884393 RCV005232672
RCV005231303
RCV005232019
RCV005232018
RCV005232231
RCV005232232
Agammaglobulinemia 10, autosomal dominant Pathogenic; Likely pathogenic rs2095916574, rs2495795874, rs1565638431, rs2095906547, rs2095906404, rs773877800, rs2142884393 RCV001822090
RCV004017196
RCV001816741
RCV001819692
RCV002260124
RCV001819970
RCV001819971
PU.1-mutated agammaglobulinemia Pathogenic; Likely pathogenic rs1565638431, rs2095916574, rs2095906547, rs2095906404, rs773877800, rs2142884393 RCV001172537
RCV001172540
RCV001172539
RCV001172538
RCV001353141
RCV001353142
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 16938118
Acrocephalosyndactylia Stimulate 24453425
Adenocarcinoma of Lung Associate 28388536, 35675043
Agammaglobulinemia Associate 33951726
Alcoholism Associate 34417470
Alzheimer Disease Associate 29482603, 30124174, 32152295, 33712570, 34103633, 35253752, 35383839, 35436980, 35715361, 35931864, 36550123, 37253165, 37735671, 37774680, 40037709
Amyotrophic Lateral Sclerosis 2 Juvenile Associate 30224357
Aortic Aneurysm Abdominal Associate 34814367
Arthritis Stimulate 29979448
Arthritis Rheumatoid Associate 24213554, 27671860, 30123050, 31785408