GFI1 - growth factor independent 1 transcriptional repressor Gene

Also Known as SCN2; GFI-1; GFI1A; ZNF163

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2672

About GFI1

Cytogenetic location: 1p22.1 Genomic coordinates (GRCh38): 1:92,473,043-92,486,925 (from NCBI)

This gene has 9 transcripts (splice variants), 232 orthologues, 28 paralogues and is associated with 3 phenotypes. Biased expression in bone marrow (RPKM 11.4), lymph node (RPKM 2.0) and 10 other tissues.

Summary

This gene encodes a nuclear Zinc Finger Protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with Other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

GFI1 Products (3)

mRNA	Protein	Name
NM_001127215.3	NP_001120687.1	zinc finger protein Gfi-1
NM_001127216.3	NP_001120688.1	zinc finger protein Gfi-1
NM_005263.5	NP_005254.2	zinc finger protein Gfi-1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	19506020	GOA
enables enzyme-substrate adaptor activity	IDA IDA: Inferred from direct assay	29651020	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11060035	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	15947108	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	29651020	GOA
involved in cellular response to lipopolysaccharide	IEP IEP: Inferred from expression pattern	20547752	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12874834	GOA
involved in negative regulation of calcidiol 1-monooxygenase activity	IDA IDA: Inferred from direct assay	15947108	GOA
involved in negative regulation of neuron projection development	IDA IDA: Inferred from direct assay	19026687	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15947108	GOA
involved in positive regulation of interleukin-6-mediated signaling pathway	IDA IDA: Inferred from direct assay	11060035	GOA
involved in regulation of toll-like receptor signaling pathway	IDA IDA: Inferred from direct assay	20547752	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nuclear body	IDA IDA: Inferred from direct assay	11060035	GOA
located in nuclear matrix	IDA IDA: Inferred from direct assay	12874834	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12874834	GOA
part of transcription repressor complex	IDA IDA: Inferred from direct assay	12874834	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

GFI1 Protein Structure

zf-H2C2_2

zf-C2H2

zf-C2H2_6

zf-H2C2_2

0
100
200
300
400
422 a.a.

Protein Preferred Names	Protein Names
zinc finger protein Gfi-1	growth factor independence-1

GFI1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GFI1	Q99684	CHAF1A	Homo sapiens	Q13111	Anti Bait CoIP	21570500
Intra	GFI1	Q99684	CHAF1A	Homo sapiens	Q13111	IF	21570500
Cross	GFI1	Q99684	Ajuba	Mus musculus	Q91XC0	Anti Tag CoIP	17909014
Cross	GFI1	Q99684	Ajuba	Mus musculus	Q91XC0	Confocal	17909014
Cross	GFI1	Q99684	Ajuba	Mus musculus	Q91XC0	Y2H	17909014
Intra	GFI1	Q99684	HDAC1	Homo sapiens	Q13547	Anti Bait CoIP	16287849
Intra	GFI1	Q99684	PRDM5	Homo sapiens	Q9NQX1	Y2H	17636019
Intra	GFI1	Q99684	RELA	Homo sapiens	Q04206	Anti Bait CoIP	20547752
Intra	GFI1	Q99684	EHMT2	Homo sapiens	Q96KQ7	Anti Bait CoIP	16287849

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Nonimmune Chronic Idiopathic Neutropenia Of Adults NI-CINA Adult Idiopathic Neutropenia Adult Chronic Idiopathic Neutropenia Dominant Nonimmune Chronic Idiopathic Neutropenia Of Adults Neutropenia, Nonimmune Chronic Idiopathic, Adult
Neutropenia, Severe Congenital, 2, Autosomal Dominant	SCN2 Neutropenia, Severe Congenital 2, Autosomal Dominant Neutropenia, Severe Congenital, Autosomal Dominant 2 Neutropenia, Congenital, Severe, Type 2, Autosomal Dominant
Autosomal Dominant Severe Congenital Neutropenia	Severe Congenital Neutropenia Autosomal Dominant Neutropenia, Congenital, Severe, Autosomal Dominant
Neutropenia	Leukopenia
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
Prostate Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Prostate
Bleeding Disorder, Platelet-Type, 17	Platelet-Type Bleeding Disorder 17 BDPLT17 Thrombasthenia-Thrombocytopenia, Hereditary Hereditary Thrombasthenia-Thrombocytopenia Autosomal Dominant Macrothrombocytopenia Gfi1b-Related Autosomal Dominant Platelet Disorder Gfi1b-Related Bleeding Disorder, Platelet Type 17
Severe Congenital Neutropenia 3	Kostmann Syndrome Infantile Agranulocytosis Kostmann Disease Scn3 Severe Congenital Neutropenia Type 3
Severe Congenital Neutropenia 2	Scn2
Cyclic Neutropenia	Cyclic Hematopoiesis Cyclical Neutropenia Neutropenia Cyclic Cyclic Hematopoesis Neutropenia, Cyclic Cyclic Agranulocytosis Neutropenia, Periodic Cyclic Leucopenia Periodic Neutropenia Cyclic Haematopoiesis CH Hematopoiesis, Cyclic Neutropenia, Cyclical
Severe Congenital Neutropenia 5	Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome Vps45 Deficiency Scn5
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Deafness, Autosomal Dominant 15	DFNA15 Autosomal Dominant Nonsyndromic Deafness 15 Autosomal Dominant Deafness 15 Deafness, Autosomal Dominant, 15 Deafness, Autosomal Dominant, Type 15
Severe Congenital Neutropenia 7	Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency Scn7
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
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

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 (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05378	GFI1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-183105	DC551040		/	Unkown
HY-183202	NCD38		/	Unkown
HY-RS05379	GFI1B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19335	Gfi1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25826	Gfi1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GFI1	MGD	MGI:103170
Canis familiaris	GFI1	VGNC	VGNC:41181
Bos taurus	GFI1	VGNC	VGNC:29325
Felis catus	GFI1	VGNC	VGNC:62522
Macaca mulatta	GFI1	VGNC	VGNC:99959
Rattus norvegicus	GFI1	RGD	RGD:2680
Others	GFI1	NCBI