CEBPE - CCAAT enhancer binding protein epsilon Gene

中文名称：CCAAT 增强子结合蛋白 epsilon

种属: Homo sapiens

同用名: CRP1; SGD1; IMD108; C/EBP-epsilon; c/EBP epsilon

基因 ID: 1053 | 基因类型: protein coding

关于 CEBPE

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,117,306-23,119,255 (from NCBI)

This gene has 3 transcripts (splice variants), 173 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in bone marrow (RPKM 14.1) and small intestine (RPKM 1.0).

功能概要

由该基因编码的蛋白质是一种 bZIP 转录因子，它可以作为同型二聚体与某些 DNA 调控区域结合。它还可以与相关蛋白 CEBP-delta 形成异二聚体。所编码的蛋白质对于定型粒细胞祖细胞的终末分化和功能成熟可能是必不可少的。该基因的突变与特定颗粒缺乏症有关，这是一种罕见的先天性疾病。该基因的多个变体已被描述，但只有一个的全长性质已被确定。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]

CEBPE 基因产物(1)

mRNA	Protein	Name
NM_001805.4	NP_001796.2	CCAAT/enhancer-binding protein epsilon

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 activator activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	10233885	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	10233885	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20211142	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in granulocyte differentiation	IMP IMP: 通过突变表型推断	10359588	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	10233885	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of RNA polymerase II transcription regulator complex	IPI IPI: 通过物理相互作用推断	23661758	GOA
located in nucleus	IDA IDA: 通过直接分析推断	11313242	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

CEBPE 蛋白结构

bZIP_2

0
100
200
281 a.a.

蛋白主名

其他名称

CCAAT/enhancer-binding protein epsilon

CCAAT/enhancer binding protein (C/EBP), epsilon

CEBPE 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	CEBPE	Q15744	BATF3	Homo sapiens	Q9NR55	FRET	23661758
种属内	CEBPE	Q15744	CEBPA	Homo sapiens	P49715	FRET	23661758
种属内	CEBPE	Q15744	ATF4	Homo sapiens	P18848	FRET	23661758
种属内	CEBPE	Q15744	ATF3	Homo sapiens	P18847	FRET	23661758
种属内	CEBPE	Q15744	CEBPG	Homo sapiens	P53567	FRET	23661758
种属内	CEBPE	Q15744	DDIT3	Homo sapiens	P35638	FRET	23661758
种属内	CEBPE	Q15744	DDIT3	Homo sapiens	P35638	Y2H Array	20211142
种属内	CEBPE	Q15744	BATF	Homo sapiens	Q16520	FRET	23661758

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

Specific Granule Deficiency 1

Specific Granule Deficiency	Neutrophil-Specific Granule Deficiency
SGD1	Lactoferrin-Deficient Neutrophils
Neutrophil Lactoferrin Deficiency	Recurrent Infection Due To Specific Granule Deficiency
Neutrophil Secondary Granule Deficiency

Immunodeficiency 108 With Autoinflammation

Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain

IMD108

Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome

Cain

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

B-Lymphoblastic Leukemia/Lymphoma With Etv6-Runx1

B-All With Etv6-Runx1	B-Lymphoblastic Leukemia/Lymphoma With T(12
21)(P13.2	Q22.1)
Etv6-Runx1	B Lymphoblastic Leukemia/Lymphoma With T(12
21)(P13.2	Q22.1)
Etv6-Runx1

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

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-RS02448	CEBPE Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	CEBPE	RGD	RGD:2329
Macaca mulatta	CEBPE	VGNC	VGNC:71002
Canis familiaris	CEBPE	VGNC	VGNC:50442
Mus musculus	CEBPE	MGD	MGI:103572
Bos taurus	CEBPE	VGNC	VGNC:27162
Felis catus	CEBPE	VGNC	VGNC:60740

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