EBF1 early B-cell factor 1 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: EBF1provided by HGNC
Official Full Name: early B-cell factor 1provided by HGNC
Primary source: HGNC:3126
See related: Ensembl:ENSG00000164330; HPRD:01256; MIM:164343; Vega:OTTHUMG00000130304
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EBF; COE1; OLF1; O/E-1; FLJ39389; FLJ41763

Help top of page

Genomic context

Location :: 5q34

Sequence :: Chromosome: 5; NC_000005.9 (158122923..158526788, complement)

See EBF1 in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

EBF1 functions as a tissue-specific regulator of chromatin structure at B cell-specific genes. [Review]
Title: B lymphocyte lineage specification, commitment and epigenetic control of transcription by early B cell factor 1.
Data show that ZNF521 can antagonize B-cell development and support the notion that it may contribute to conserve the multipotency of primitive lympho-myeloid progenitors by preventing or delaying their EBF1-driven commitment toward the B-cell lineage.
Title: Zinc finger protein 521 antagonizes early B-cell factor 1 and modulates the B-lymphoid differentiation of primary hematopoietic progenitors.
Ebf1 or Pax5 haploinsufficiency synergizes with STAT5 activation to initiate acute lymphoblastic leukemia
Title: Ebf1 or Pax5 haploinsufficiency synergizes with STAT5 activation to initiate acute lymphoblastic leukemia.
EBF1, BLK and TNFSF4 are all involved in B-cell differentiation and activation, and we conclude that polymorphisms in several susceptibility genes in the immune system contribute to the pathogenesis of primary SS.
Title: Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.
our studies not only provided molecular basis of ATF5 transcriptional regulation, but also identified ATF5 as a target gene of EBF1 transcription factor.
Title: Identification and characterization of the promoter of human ATF5 gene.
unique structural features of EBF domains and dimeerization motif
Title: Structural determination of functional domains in early B-cell factor (EBF) family of transcription factors reveals similarities to Rel DNA-binding proteins and a novel dimerization motif.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genomic profiling of adult acute lymphoblastic leukemia by single nucleotide polymorphism oligonucleotide microarray and comparison to pediatric acute lymphoblastic leukemia.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.
EBF-1 and PPARgamma2 induce adipocyte differentiation with comparable kinetics and efficiency.
Title: Gene expression analysis suggests that EBF-1 and PPARgamma2 induce adipogenesis of NIH-3T3 cells with similar efficiency and kinetics.

Submit: New GeneRIF Correction See all (14)

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
Q9UH73	Q92793	CREBBP	HPRD	PubMed
Q9UH73	Q9UH73	EBF1	HPRD	PubMed
Q9UH73	Q02548	PAX5	HPRD	PubMed
Q9UH73	OAZ	ZNF423	HPRD	PubMed
Q9UH73	Zinc finger protein 521	ZNF521	HPRD	PubMed
BioGRID:108211	BioGRID:107076	BCL6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108211	BioGRID:107777	CREBBP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108211	BioGRID:108211	EBF1	BioGRID	PubMed	Co-purification
BioGRID:108211	BioGRID:116718	ZNF423	BioGRID	PubMed	Affinity Capture-Western; Co-purification

Function	Evidence Code	Pubs
C2H2 zinc finger domain binding	IEA Inferred from Electronic Annotation more info
DNA binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
multicellular organismal development	IEA Inferred from Electronic Annotation more info
positive regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: transcription factor COE1

Names: transcription factor COE1; OE-1; olfactory neuronal transcription factor 1; Collier, Olf and EBF transcription factor 1

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_024007.3 → NP_076870.1 transcription factor COE1

Status: VALIDATED

Source sequence(s)

AC008442, BC038805, BM802733, DB231236

Consensus CDS

CCDS4343.1

UniProtKB/Swiss-Prot

Q9UH73

Related

ENSP00000322898, OTTHUMP00000160817, ENST00000313708, OTTHUMT00000252649

Conserved Domains (3) summary

cd01175
Location:262 – 346
Blast Score: 440

IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...

cl00081
Location:352 – 392
Blast Score: 90

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cd11606
Location:35 – 247
Blast Score: 1205

COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p5 Primary Assembly

Range

158122923..158526788, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

153220108..153621641, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC008442.6	None
genomic	AC008640.6 (64888..131995)	None
genomic	AC134043.1 (132678..142241)	None
genomic	AC136424.1 (10630..93766)	None
genomic	AC140770.1 (15328..156512)	None
genomic	CH471062.2	EAW61580.1
		EAW61581.1
		EAW61582.1
mRNA	AF208502.1	AAF19643.1
mRNA	AK096708.1	None
mRNA	AK123757.1	None
mRNA	AK289712.1	BAF82401.1
mRNA	AK303698.1	BAG64684.1
mRNA	AK304438.1	BAG65260.1
mRNA	BC019927.1	None
mRNA	BC038805.1	AAH38805.1
mRNA	BC041178.1	AAH41178.1
mRNA	BM802733.1	None
mRNA	DB231236.1	None
other-genetic	EU446855.1	ABZ92384.1
other-genetic	EU832793.1	ACE87804.1
other-genetic	EU832804.1	ACE87815.1
other-genetic	GQ129329.1	ACT64463.1
other-genetic	GQ129403.1	ACT64537.1
other-genetic	HQ257943.1	ADR82697.1