U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

EBF1 EBF transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 1879, updated on 14-Aug-2022

Summary

Official Symbol
EBF1provided by HGNC
Official Full Name
EBF transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:3126
See related
Ensembl:ENSG00000164330 MIM:164343; AllianceGenome:HGNC:3126
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
Summary
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of transcription, DNA-templated. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in fat (RPKM 3.2), placenta (RPKM 0.8) and 17 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See EBF1 in Genome Data Viewer
Location:
5q33.3
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (158695920..159099916, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (159224860..159628711, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (158122928..158526924, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1261 Neighboring gene VISTA enhancer hs1208 Neighboring gene VISTA enhancer hs813 Neighboring gene VISTA enhancer hs230 Neighboring gene VISTA enhancer hs1022 Neighboring gene VISTA enhancer hs1117 Neighboring gene VISTA enhancer hs1123 Neighboring gene uncharacterized LOC107986467 Neighboring gene long intergenic non-protein coding RNA 2202 Neighboring gene uncharacterized LOC107986468 Neighboring gene ring finger protein 145

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.
EBI GWAS Catalog
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
EBI GWAS Catalog
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
EBI GWAS Catalog
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
EBI GWAS Catalog
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
EBI GWAS Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
EBI GWAS Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
EBI GWAS Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39389, FLJ41763

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables C2H2 zinc finger domain binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transcription factor COE1
Names
Collier, Olf and EBF transcription factor 1
early B cell factor 1
olfactory neuronal transcription factor 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001290360.3NP_001277289.1  transcription factor COE1 isoform 1

    See identical proteins and their annotated locations for NP_001277289.1

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC134043, AK304438, BM802733, DA485473
    UniProtKB/TrEMBL
    B4E2U8
    Conserved Domains (3) summary
    cd01175
    Location:263347
    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 ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:348391
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  2. NM_001324101.2NP_001311030.1  transcription factor COE1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC008640, AC134043, AC140770
    Conserved Domains (3) summary
    cd01175
    Location:263347
    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 ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:348391
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  3. NM_001324103.2NP_001311032.1  transcription factor COE1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC008640, AC134043, AC140770
    Conserved Domains (3) summary
    cd01175
    Location:262346
    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 ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:347390
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  4. NM_001324106.2NP_001311035.1  transcription factor COE1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC008640, AC134043, AC140770
    Conserved Domains (3) summary
    cd01175
    Location:254338
    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 ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:339382
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  5. NM_001324107.2NP_001311036.1  transcription factor COE1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC008640, AC134043, AC140770
    Conserved Domains (3) summary
    cd01175
    Location:255339
    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 ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:340383
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  6. NM_001324108.2NP_001311037.1  transcription factor COE1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC008640, AC134043, AC140770
    Conserved Domains (3) summary
    cd01175
    Location:254338
    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 ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:339382
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  7. NM_001324109.2NP_001311038.1  transcription factor COE1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC008640, AC134043, AC140770
    Conserved Domains (3) summary
    cd01175
    Location:263347
    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 ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:348391
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  8. NM_001324111.2NP_001311040.1  transcription factor COE1 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC008640, AC134043, AC140770
    Related
    ENST00000519739.5
    Conserved Domains (3) summary
    cd01175
    Location:130214
    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 ...
    pfam16423
    Location:215258
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
    cl17007
    Location:1114
    COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
  9. NM_001364155.2NP_001351084.1  transcription factor COE1 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC008640, AC134043, AC140770
    Related
    ENSP00000428020.1, ENST00000517373.1
    Conserved Domains (3) summary
    cd01175
    Location:262346
    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 ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:347390
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  10. NM_001364156.2NP_001351085.1  transcription factor COE1 isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC008640, AC134043, AC140770
    Conserved Domains (3) summary
    cd11606
    Location:7209
    COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
    cd01175
    Location:224308
    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 ...
    pfam16423
    Location:309352
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  11. NM_001364157.2NP_001351086.1  transcription factor COE1 isoform 14

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC008640, AC134043, AC140770
    Conserved Domains (3) summary
    cd11606
    Location:7209
    COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
    cd01175
    Location:225309
    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 ...
    pfam16423
    Location:310353
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  12. NM_001364158.2NP_001351087.1  transcription factor COE1 isoform 15

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC008640, AC134043, AC140770
    Conserved Domains (3) summary
    cd01175
    Location:121205
    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 ...
    pfam16423
    Location:206249
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
    cl17007
    Location:1114
    COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
  13. NM_001364159.2NP_001351088.1  transcription factor COE1 isoform 16

    Status: VALIDATED

    Source sequence(s)
    AC008442, AC008640, AC134043, AC140770
    Related
    ENSP00000477809.1, ENST00000622875.4
    Conserved Domains (3) summary
    cd01175
    Location:129213
    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 ...
    pfam16423
    Location:214257
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
    cl17007
    Location:1114
    COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
  14. NM_024007.5NP_076870.1  transcription factor COE1 isoform 2

    See identical proteins and their annotated locations for NP_076870.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is one aa shorter compared to isoform 1.
    Source sequence(s)
    AC008442, AC134043, BC038805, BM802733, DA485473
    Consensus CDS
    CCDS4343.1
    UniProtKB/Swiss-Prot
    Q8IW11, Q9UH73
    Related
    ENSP00000322898.6, ENST00000313708.11
    Conserved Domains (3) summary
    cd01175
    Location:262346
    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 ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:347390
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  15. NM_182708.3NP_874367.1  transcription factor COE1 isoform 3

    See identical proteins and their annotated locations for NP_874367.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses alternate in-frame splice junctions at the ends of two exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC008442, AC134043, BC041178, BM802733, DA485473
    Consensus CDS
    CCDS78081.1
    UniProtKB/Swiss-Prot
    Q9UH73
    Related
    ENSP00000370029.4, ENST00000380654.8
    Conserved Domains (3) summary
    cd01175
    Location:231315
    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 ...
    pfam16422
    Location:21224
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:316359
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    158695920..159099916 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416890.1XP_047272846.1  transcription factor COE1 isoform X5

  2. XM_047416889.1XP_047272845.1  transcription factor COE1 isoform X4

  3. XM_047416891.1XP_047272847.1  transcription factor COE1 isoform X8

  4. XM_017009194.2XP_016864683.1  transcription factor COE1 isoform X1

    Conserved Domains (3) summary
    cd01175
    Location:255339
    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 ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:340383
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  5. XM_024454390.2XP_024310158.1  transcription factor COE1 isoform X6

    Conserved Domains (3) summary
    cd01175
    Location:130214
    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 ...
    cl17007
    Location:1114
    COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
    pfam16423
    Location:215258
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  6. XM_047416888.1XP_047272844.1  transcription factor COE1 isoform X3

  7. XM_017009197.2XP_016864686.1  transcription factor COE1 isoform X2

  8. XM_024454391.2XP_024310159.1  transcription factor COE1 isoform X6

    Conserved Domains (3) summary
    cd01175
    Location:130214
    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 ...
    cl17007
    Location:1114
    COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
    pfam16423
    Location:215258
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  9. XM_017009200.3XP_016864689.1  transcription factor COE1 isoform X7

    Conserved Domains (3) summary
    cd01175
    Location:56140
    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 ...
    pfam16423
    Location:141184
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
    cl17007
    Location:140
    COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
  10. XM_017009199.2XP_016864688.1  transcription factor COE1 isoform X7

    Conserved Domains (3) summary
    cd01175
    Location:56140
    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 ...
    pfam16423
    Location:141184
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
    cl17007
    Location:140
    COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
  11. XM_017009203.2XP_016864692.1  transcription factor COE1 isoform X10

  12. XM_017009202.2XP_016864691.1  transcription factor COE1 isoform X9

  13. XM_047416892.1XP_047272848.1  transcription factor COE1 isoform X11

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    159224860..159628711 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)