GFI1 - growth factor independent 1 transcriptional repressor Gene

中文名称：生长因子非依赖性 1 转录抑制因子

种属: Homo sapiens

同用名: SCN2; GFI-1; GFI1A; ZNF163

基因 ID: 2672 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种核锌指蛋白，可作为转录抑制因子发挥作用。这种蛋白质在不同的发育环境中发挥作用，包括造血和肿瘤发生。它作为复合物的一部分与其他辅助因子一起发挥作用，以控制导致靶基因启动子沉默的组蛋白修饰。该基因的突变会导致常染色体显性遗传性严重先天性中性粒细胞减少症，以及成人显性非免疫性慢性特发性中性粒细胞减少症，这是导致白血病和感染易感性的异质性造血系统疾病。已为该基因鉴定出编码相同蛋白质的多个选择性剪接变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	19506020	GOA
enables enzyme-substrate adaptor activity	IDA IDA: 通过直接分析推断	29651020	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11060035	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: 通过直接分析推断	15947108	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	29651020	GOA
involved in cellular response to lipopolysaccharide	IEP IEP: 通过表达模式推断	20547752	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	12874834	GOA
involved in negative regulation of calcidiol 1-monooxygenase activity	IDA IDA: 通过直接分析推断	15947108	GOA
involved in negative regulation of neuron projection development	IDA IDA: 通过直接分析推断	19026687	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	15947108	GOA
involved in positive regulation of interleukin-6-mediated signaling pathway	IDA IDA: 通过直接分析推断	11060035	GOA
involved in regulation of toll-like receptor signaling pathway	IDA IDA: 通过直接分析推断	20547752	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nuclear body	IDA IDA: 通过直接分析推断	11060035	GOA
located in nuclear matrix	IDA IDA: 通过直接分析推断	12874834	GOA
located in nucleus	IDA IDA: 通过直接分析推断	12874834	GOA
part of transcription repressor complex	IDA IDA: 通过直接分析推断	12874834	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GFI1 蛋白结构

zf-H2C2_2

zf-C2H2

zf-C2H2_6

zf-H2C2_2

0
100
200
300
422 a.a.

蛋白主名

其他名称

zinc finger protein Gfi-1

growth factor independence-1

GFI1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	GFI1	Q99684	CHAF1A	Homo sapiens	Q13111	Anti Bait CoIP	21570500
种属内	GFI1	Q99684	CHAF1A	Homo sapiens	Q13111	IF	21570500
种属间	GFI1	Q99684	Ajuba	Mus musculus	Q91XC0	Anti Tag CoIP	17909014
种属间	GFI1	Q99684	Ajuba	Mus musculus	Q91XC0	Confocal	17909014
种属间	GFI1	Q99684	Ajuba	Mus musculus	Q91XC0	Y2H	17909014
种属内	GFI1	Q99684	HDAC1	Homo sapiens	Q13547	Anti Bait CoIP	16287849
种属内	GFI1	Q99684	PRDM5	Homo sapiens	Q9NQX1	Y2H	17636019
种属内	GFI1	Q99684	RELA	Homo sapiens	Q04206	Anti Bait CoIP	20547752
种属内	GFI1	Q99684	EHMT2	Homo sapiens	Q96KQ7	Anti Bait CoIP	16287849

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05378	GFI1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS05379	GFI1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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