1. Gene
  2. SPI1 - Spi-1 proto-oncogene Gene

SPI1 - Spi-1 proto-oncogene Gene

Homo sapiens

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

Gene ID: 6688 | Gene type: protein coding

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

SPI1 Protein Structure

Ets

Ets: Ets-domain (169 - 253)

  • 0
  • 100
  • 200
  • 270 a.a.
Protein Preferred Names Protein Names

transcription factor PU.1

31 kDa transforming protein

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

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