SPI1 - Spi-1 proto-oncogene Gene

Also Known as OF; PU.1; AGM10; SFPI1; SPI-1; SPI-A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6688

About SPI1

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:47,354,860-47,395,607 (from NCBI)

This gene has 4 transcripts (splice variants), 244 orthologues, 28 paralogues and is associated with 1 phenotype. Broad expression in bone marrow (RPKM 36.5), appendix (RPKM 27.0) and 18 other tissues.

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 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 Products (2)

mRNA	Protein	Name
NM_001080547.2	NP_001074016.1	transcription factor PU.1 isoform 1
NM_003120.3	NP_003111.2	transcription factor PU.1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity	IDA IDA: Inferred from direct assay	20139074	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	12833137	GOA
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	27506447	GOA
enables DNA-binding transcription repressor activity	IDA IDA: Inferred from direct assay	20139074	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	20139074	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	24429361	GOA
enables STAT family protein binding	IPI IPI: Inferred from physical interaction	24429361	GOA
enables cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	28481873	GOA
enables molecular adaptor activity	EXP EXP: Inferred from Experiment	32128405	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10207087	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	33951726	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	31146003	GOA
enables transcription cis-regulatory region binding	IMP IMP: Inferred from mutant phenotype	27506447	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of positive effect TRAIL-activated apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	28362429	GOA
involved in defense response to tumor cell	IMP IMP: Inferred from mutant phenotype	28362429	GOA
involved in interleukin-6-mediated signaling pathway	IDA IDA: Inferred from direct assay	24429361	GOA
involved in myeloid leukocyte differentiation	IMP IMP: Inferred from mutant phenotype	28111278	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	20139074	GOA
involved in negative regulation of NF-kappaB transcription factor activity	IDA IDA: Inferred from direct assay	28362429	GOA
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	29290617	GOA
involved in negative regulation of non-canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	28362429	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	28362429	GOA
involved in positive regulation of B cell differentiation	IMP IMP: Inferred from mutant phenotype	33951726	GOA
involved in positive regulation of miRNA transcription	IDA IDA: Inferred from direct assay	20972335	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12833137	GOA
involved in positive regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	24429361	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	28362429	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	31018969	GOA
involved in regulation of erythrocyte differentiation	IMP IMP: Inferred from mutant phenotype	12833137	GOA
involved in transcription initiation-coupled chromatin remodeling	IMP IMP: Inferred from mutant phenotype	33951726	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	15304486	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20972335	GOA
part of transcription regulator complex	IDA IDA: Inferred from direct assay	24429361	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPI1 Protein Structure

Ets

0
100
200
270 a.a.

Protein Preferred Names	Protein Names
transcription factor PU.1	31 kDa transforming protein

SPI1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SPI1	P17947	HOXA10	Homo sapiens	P31260	Anti Bait CoIP	18692240
Intra	SPI1	P17947	HOXA10	Homo sapiens	P31260	Anti Tag CoIP	18692240
Intra	SPI1	P17947	GATA2	Homo sapiens	P23769	Pull Down	18250304
Intra	SPI1	P17947	PRKDC	Homo sapiens	P78527	Anti Tag CoIP	21575865
Intra	SPI1	P17947	PML-RAR	Homo sapiens	Q15156	Confocal	20159610
Intra	SPI1	P17947	PML-RAR	Homo sapiens	Q15156	Anti Bait CoIP	20159610
Intra	SPI1	P17947	PML-RAR	Homo sapiens	Q15156	CH-IP	20159610

Cross: Cross-species interaction Intra: Intraspecies interaction

SPI1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80287	PU.1/SPI1 Antibody (YA118)	WB, IHC-P	Human
HY-P80288	PU.1/SPI1 Antibody (YA117)	WB, IHC-P, FC	Human
HY-P81371	PU.1/SPI1 Antibody (YA1116)	WB, IHC-P, ICC/IF, IP	Human, Mouse, Rat, Hamster
HY-P81371A	PU.1/SPI1 Antibody (YA1116)(PBS only)	WB, IHC-P, ICC/IF, IP	Human, Mouse, Rat, Hamster

Related Diseases

Diseases	Alias
Agammaglobulinemia 10, Autosomal Dominant	AGM10 Agammaglobulinemia, Autosomal Dominant, Due To Spi1 Defect
Erythroleukemia
Agammaglobulinemia 10
Inflammatory Diarrhea
Agammaglobulinemia	Hypogammaglobulinemia Ighm Mu Heavy Chain Deficiency Mu-Heavy Chain Disease Mu-Hcd Mu-Chain Disease
Histiocytic Sarcoma	Malignant Histiocytosis
Pulmonary Alveolar Proteinosis
Acute Erythroid Leukemia	Acute Erythroleukemia Di Guglielmo'S Syndrome Aml M6 Acute Myeloid Leukemia Fab-M6 Acute Myeloid Leukemia M6 Erythroleukemia Aml-M6 Acute Erythroleukemia M6a Subtype Acute Erythroleukemia M6b Subtype Di Guglielmo Syndrome Acute Myeloid Leukemia, M6 Type Acute Erythroblastic Leukemia Acute Erythroleukemia - M6a Subtype Acute Erythroleukemia - M6b Subtype Acute Erythraemia And Erythroleukaemia Acute Erythroid Leukaemia Without Mention Of Remission Erythraemia Erythraemic Myelosis Erythroleukaemia Acute Erythraemic Myelosis Acute Erythraemia
Salmonellosis	Salmonella Infections Salmonella Infection
Prion Disease	Spongiform Encephalopathy Transmissible Spongiform Encephalopathies Prion Diseases Prion Disease Pathway Transmissible Spongiform Encephalopathy Prion Induced Disorder Prion Protein Disease Inherited Human Transmissible Spongiform Encephalopathies Prion Protein Diseases Prion-Associated Disorders Prion-Induced Disorders Transmissible Dementias Tses Human Prion Disease Tse Encephalopathy, Transmissible Spongiform Prion Disease, Susceptibility To Spongiform Encephalopathies Human Transmissible Spongiform Encephalopathies, Inherited
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Retinoblastoma	RB Trilateral Retinoblastoma RB1 Retinoblastoma, Trilateral Neuroblastoma Of Retina Rb - Retinoblastoma Eye Cancer, Retinoblastoma Retinal Cancer Retinal Tumor Glioma, Retinal Non-Hereditary Retinoblastoma Childhood Cancer Retinoblastoma Malignant Neoplasm Of Retina Retinal Neoplasms
Paratyphoid Fever	Paratyphoid B Fever Paratyphoid C Fever Paratyphoid Fever A Paratyphoid Fever B Paratyphoid Fever C Paratyphoid Paratyphoid A Paratyphoid A Fever Paratyphoid B Paratyphoid C Infection Due To Salmonella Paratyphi
B-Cell Lymphoma	Lymphoma, B-Cell B-Cell Lymphomas B-Cell Lymphocytic Neoplasm Lymphoma B-Cell B-Cell Lymphoma Nos
Immunodeficiency 21	Monocytopenia And Mycobacterial Infection Syndrome Monomac Gata2 Deficiency Monocytopenia With Susceptibility To Infections Dcml IMD21 Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections Monocyte - B - Natural Killer - Dendritic Cell Deficiency Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia
Lymphoma, Hodgkin, Classic	Hodgkin Lymphoma Hodgkin Disease Hodgkin'S Lymphoma Hodgkins Lymphoma Classic Hodgkin Lymphoma CHL Hodgkin Lymphoma, Susceptibility To Hl Hodgkin'S Sarcoma Stage I Subdiaphragmatic Hodgkin Lymphoma Stage Ii Subdiaphragmatic Hodgkin Lymphoma Lymphoma, Hodgkin'S Classic Hodgkin Disease Hodgkin'S Disease Lymphoma, Hodgkin, Susceptibility To Hodgkin'S Disease Of Intrapelvic Lymph Nodes Hodgkin'S Disease Of Lymph Nodes Of Inguinal Region And/Or Lower Limb Malignant Lymphogranuloma Malignant Lymphogranulomatosis Malignant Hodgkin Lymphoma Classical Hodgkin Lymphoma, Type Not Specified
Typhoid Fever	Typhoid Enteric Fever Typhoidal Salmonellosis Ileotyphus Infection By Salmonella Typhi Typhoid Any Site Typhoid Fever Any Site Typhoid Infection Typhoid Infection Any Site Typhoid Fever Confirmed Enteric Fever Nos
Monocyte, Dendritic Cell, And Nk Cell Deficiency
Immunodeficiency 32b	IMD32B Immunodeficiency 32b, Monocyte And Dendritic Cell Deficiency, Autosomal Recessive Immunodeficiency 32b, Monocyte, Dendritic Cell, And Natural Killer Cell Deficiency, Autosomal Recessive Irf8 Deficiency, Autosomal Recessive Epstein-Barr Virus Chronic Infection By Epstein-Barr Virus, Susceptibility To Chronic Infection By Autosomal Recessive Irf8 Deficiency Chronic Epstein-Barr Virus Infection Syndrome Caebv Syndrome Chronic Ebv Infection Syndrome Autosomal Recessive Monocyte And Dendritic Cell Deficiency Immunodeficiency, Type 32b Monocyte And Dendritic Cell Deficiency, Autosomal Recessive
Primary Bacterial Infectious Disease
Cataract 9, Multiple Types	Cataract 9 Multiple Types CTRCT9 Cataract, Autosomal Dominant Catc1 Cataract 9, Multiple Types, With Or Without Microcornea Cataract, Autosomal Recessive Congenital 1 Autosomal Recessive Congenital Cataract 1 Cataract 9 Multiple Types With Or Without Microcornea Autosomal Dominant Congenital Cataract Cataract Autosomal Dominant Cataracts, Autosomal Dominant
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Hereditary Diffuse Leukoencephalopathy With Spheroids Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia Alsp Gpsc Subcortical Gliosis Of Neumann Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1 Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids Hdls HDLS1 Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia Gliosis, Familial Progressive Subcortical Leukoencephalopathy, Diffuse Hereditary, With Spheroids Pold Pigmentary Orthochromatic Leukodystrophy Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia Familial Progressive Subcortical Gliosis Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant Dementia, Familial, Neumann Type Adult-Onset Leukodystrophy With Neuroaxonal Spheroids Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids Neuroaxonal Leukodystrophy Fpsg Familial Dementia, Neumann Type Familial Dementia Neumann Type Leukoencephalopathy, Diffuse Hereditary, With Spheroid
T-Cell Acute Lymphoblastic Leukemia	T-Cell Leukemia Acute T Cell Leukemia Precursor T Lymphoblastic Leukemia Precursor T-Lymphoblastic Lymphoma/Leukemia T Acute Lymphoblastic Leukemia T-Cell Acute Lymphocytic Leukaemia T-Cell Lymphoblastic Leukemia/Lymphoma Leukemia T-Cell Leukemia, T-Cell Leukemia, Acute, Lymphoblastic, T-Cell Leukemia, T-Cell Acute Lymphoblastic Leukemia, Acute T-Cell Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Precursor T-Cell Lymphoblastic Lymphoma Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma
Lymphoma, Non-Hodgkin, Familial	Non-Hodgkin Lymphoma Lymphoma, Non-Hodgkin NHL Lymphoma, Non-Hodgkin, Somatic Lymphoma, Follicular, Somatic Familial Non-Hodgkin Lymphoma Lymphoma Non-Hodgkins Follicular Lymphoma, Somatic Lymphosarcoma Non-Hodgkins Lymphoma
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Acute Promyelocytic Leukemia	Leukemia, Acute Promyelocytic Acute Myeloblastic Leukemia Type 3 Aml M3 APL Leukemia, Acute Promyelocytic, Somatic Aml With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Apml Acute Myeloblastic Leukemia 3 Acute Myeloid Leukemia With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Acute Myeloblastic Leukaemia Type 3 Acute Myeloid Leukaemia M3 Acute Myeloid Leukemia M3 Acute Promyelocytic Leukaemia M3 Anll Myeloid Leukemia, Acute, M3 Leukemia Promyelocytic Acute Leukemia, Promyelocytic, Acute Leukemia, Acute, Promyelocytic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS17194	Spi1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13671	SPI1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23630	Serpina1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23645	Spi1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SPI1	VGNC	VGNC:101402
Rattus norvegicus	SPI1	RGD	RGD:1359607
Felis catus	SPI1	VGNC	VGNC:65637
Bos taurus	SPI1	VGNC	VGNC:35213
Mus musculus	SPI1	MGD	MGI:98282
Canis familiaris	SPI1	VGNC	VGNC:52051
Others	SPI1	NCBI