CEBPE - CCAAT enhancer binding protein epsilon Gene

Also Known as CRP1; SGD1; IMD108; C/EBP-epsilon; c/EBP epsilon

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1053

About 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).

Summary

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 Products (1)

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
10233885 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
10233885 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20211142 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Références Source
involved in granulocyte differentiation IMP
IMP: Inferred from mutant phenotype
10359588 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
10233885 GOA
Cellular Component GO Annotation Evidence Références Source
part of RNA polymerase II transcription regulator complex IPI
IPI: Inferred from physical interaction
23661758 GOA
located in nucleus IDA
IDA: Inferred from direct assay
11313242 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

CEBPE Protein Structure

bZIP_2

bZIP_2: Basic region leucine zipper (204 - 256)

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

CCAAT/enhancer-binding protein epsilon

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

CEBPE Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
CEBPE Q15744 BATF3 Homo sapiens Q9NR55
FRET
23661758
Intra
CEBPE Q15744 CEBPA Homo sapiens P49715
FRET
23661758
Intra
CEBPE Q15744 ATF4 Homo sapiens P18848
FRET
23661758
Intra
CEBPE Q15744 ATF3 Homo sapiens P18847
FRET
23661758
Intra
CEBPE Q15744 CEBPG Homo sapiens P53567
FRET
23661758
Intra
CEBPE Q15744 DDIT3 Homo sapiens P35638
FRET
23661758
Intra
CEBPE Q15744 DDIT3 Homo sapiens P35638
Y2H Array
20211142
Intra
CEBPE Q15744 BATF Homo sapiens Q16520
FRET
23661758
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
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 (3)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS02448 CEBPE Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21519 Cebpe Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28037 Cebpe Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others CEBPE NCBI