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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 regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SPI1 (Spi-1 Proto-Oncogene) is a Protein Coding gene. Diseases associated with SPI1 include Inflammatory Diarrhea and Pulmonary Alveolar Proteinosis. Among its related pathways are Transcriptional misregulation in cancer and Validated targets of C-MYC transcriptional repression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA binding. An important paralog of this gene is ENSG00000142539.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,ISS | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISS | -- |
GO:0001085 | RNA polymerase II transcription factor binding | IEA,ISS | -- |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IEA,ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 20972335 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005667 | transcription factor complex | IDA | 24429361 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | NF-kappaB Signaling | ||
2 | Endometrial cancer | ||
3 | Human T-cell leukemia virus 1 infection | ||
4 | Osteoclast differentiation | ||
5 | Pathways in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0001944 | vasculature development | IEA | -- |
GO:0002320 | lymphoid progenitor cell differentiation | IEA | -- |
GO:0002573 | myeloid leukocyte differentiation | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | SPI1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SPI1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Spi1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Spi1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SPI1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SPI1 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | SPI1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SPI1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SPI1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | spi1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | spi1b 30 31 |
|
OneToOne | |
spi1 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10886 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
801321 | Pathogenic: PU.1-mutated agammaglobulinemia | 47,355,318(-) | A/C | MISSENSE_VARIANT | |
801322 | Pathogenic: PU.1-mutated agammaglobulinemia | 47,355,408(-) | T/G | MISSENSE_VARIANT | |
801323 | Pathogenic: PU.1-mutated agammaglobulinemia | 47,358,974(-) | G/C | NONSENSE | |
rs1565638431 | Pathogenic: PU.1-mutated agammaglobulinemia; not provided | 47,359,859(-) | GCC/CT | FRAMESHIFT_VARIANT | |
rs771555522 | Uncertain Significance: SPI1-related eosinophilia syndrome | 47,378,311(-) | G/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv622e59 | CNV | duplication | 20981092 |
esv275512 | CNV | loss | 21479260 |
esv3439899 | CNV | duplication | 20981092 |
esv992404 | CNV | insertion | 20482838 |
nsv1075832 | CNV | duplication | 25765185 |
nsv1127180 | CNV | deletion | 24896259 |
nsv1132343 | CNV | duplication | 24896259 |
nsv1134113 | CNV | deletion | 24896259 |
nsv1141192 | CNV | duplication | 24896259 |
nsv509404 | CNV | insertion | 20534489 |
nsv513315 | CNV | insertion | 21212237 |
nsv554210 | CNV | loss | 21841781 |
nsv825871 | CNV | gain | 20364138 |
nsv832141 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
inflammatory diarrhea |
|
|
pulmonary alveolar proteinosis |
|
|
primary mediastinal b-cell lymphoma |
|
|
leukemia |
|
|
myeloid leukemia |
|