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

    Gene ID: 1879, updated on 10-Dec-2024

    Summary

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    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 DNA-templated transcription. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in fat (RPKM 3.2), placenta (RPKM 0.8) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EBF1 in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (158695920..159099916, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (159224860..159628711, complement)
    RS_2024_09 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 long intergenic non-protein coding RNA 2227 Neighboring gene uncharacterized LOC124901122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23533 Neighboring gene Sharpr-MPRA regulatory region 1261 Neighboring gene VISTA enhancer hs1208 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:158067088-158067611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23535 Neighboring gene NANOG hESC enhancer GRCh37_chr5:158124779-158125433 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:158139245-158139745 Neighboring gene VISTA enhancer hs813 Neighboring gene NANOG hESC enhancer GRCh37_chr5:158164501-158165077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23536 Neighboring gene VISTA enhancer hs230 Neighboring gene NANOG hESC enhancer GRCh37_chr5:158378905-158379562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23537 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:158384828-158385690 Neighboring gene NANOG hESC enhancer GRCh37_chr5:158403034-158403551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16567 Neighboring gene VISTA enhancer hs1022 Neighboring gene VISTA enhancer hs1117 Neighboring gene VISTA enhancer hs1123 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:158522773-158523666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:158524561-158525454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16568 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:158527204-158527832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:158527833-158528459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:158531040-158531945 Neighboring gene uncharacterized LOC107986467 Neighboring gene long intergenic non-protein coding RNA 2202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23540 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:158588140-158589339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:158634672-158635327 Neighboring gene uncharacterized LOC107986468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23544 Neighboring gene ring finger protein 145

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Protective Effect of EBF Transcription Factor 1 (EBF1) Polymorphism in Sporadic and Familial Spontaneous Preterm Birth: Insights from a Case-Control Study. Mladenić T, et al. Int J Mol Sci, 2024 Oct 17. PMID 39456973, Free PMC Article
    2. Lowly methylated region analysis identifies EBF1 as a potential epigenetic modifier in breast cancer. Fernandez-Jimenez N, et al. Epigenetics, 2017. PMID 29099283, Free PMC Article
    3. Prolonged oxidative stress down-regulates Early B cell factor 1 with inhibition of its tumor suppressive function against cholangiocarcinoma genesis. Armartmuntree N, et al. Redox Biol, 2018 Apr. PMID 29169115, Free PMC Article
    4. Defining B Cell Chromatin: Lessons from EBF1. Boller S, et al. Trends Genet, 2018 Apr. PMID 29336845
    5. EBF1 gene polymorphism and its interaction with smoking and drinking on the risk of coronary artery disease for Chinese patients. Ying Y, et al. Biosci Rep, 2018 Jun 29. PMID 29789399, Free PMC Article

    See all (95) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Protective Effect of EBF Transcription Factor 1 (EBF1) Polymorphism in Sporadic and Familial Spontaneous Preterm Birth: Insights from a Case-Control Study.
      Title: Protective Effect of EBF Transcription Factor 1 (EBF1) Polymorphism in Sporadic and Familial Spontaneous Preterm Birth: Insights from a Case-Control Study.
    2. Transcriptome analysis reveals EBF1 ablation-induced injuries in cardiac system.
      Title: Transcriptome analysis reveals EBF1 ablation-induced injuries in cardiac system.
    3. EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms.
      Title: EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms.
    4. RBP7 Regulated by EBF1 Affects Th2 Cells and the Oocyte Meiosis Pathway in Bone Metastases of Bladder Urothelial Carcinoma.
      Title: RBP7 Regulated by EBF1 Affects Th2 Cells and the Oocyte Meiosis Pathway in Bone Metastases of Bladder Urothelial Carcinoma.
    5. Caveolin-1 rs1997623 Single Nucleotide Polymorphism Creates a New Binding Site for the Early B-Cell Factor 1 That Instigates Adipose Tissue CAV1 Protein Overexpression.
      Title: Caveolin-1 rs1997623 Single Nucleotide Polymorphism Creates a New Binding Site for the Early B-Cell Factor 1 That Instigates Adipose Tissue CAV1 Protein Overexpression.
    6. EBF1 promotes triple-negative breast cancer progression by surveillance of the HIF1alpha pathway.
      Title: EBF1 promotes triple-negative breast cancer progression by surveillance of the HIF1α pathway.
    7. EBNA2-EBF1 complexes promote MYC expression and metabolic processes driving S-phase progression of Epstein-Barr virus-infected B cells.
      Title: EBNA2-EBF1 complexes promote MYC expression and metabolic processes driving S-phase progression of Epstein-Barr virus-infected B cells.
    8. EBF1-mediated up-regulation of lncRNA FGD5-AS1 facilitates osteosarcoma progression by regulating miR-124-3p/G3BP2 axis as a ceRNA.
      Title: EBF1-mediated up-regulation of lncRNA FGD5-AS1 facilitates osteosarcoma progression by regulating miR-124-3p/G3BP2 axis as a ceRNA.
    9. Plasma EBF1 as a Novel Biomarker for Postmenopausal Osteoporosis.
      Title: Plasma EBF1 as a Novel Biomarker for Postmenopausal Osteoporosis.
    10. EBF1 is expressed in pericytes and contributes to pericyte cell commitment.
      Title: EBF1 is expressed in pericytes and contributes to pericyte cell commitment.
    Submit: New GeneRIF Correction See all GeneRIFs (60)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39389, FLJ41763

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    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
    		  
    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

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    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)

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    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_001290360.3 → NP_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
      A8K0Z7
      Conserved Domains (3) summary
      cd01175
      Location:263 → 347
      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:21 → 247
      COE1_DBD; Transcription factor COE1 DNA-binding domain
      pfam16423
      Location:348 → 391
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    2. NM_001324101.2 → NP_001311030.1  transcription factor COE1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008442, AC008640, AC134043, AC140770
      UniProtKB/TrEMBL
      A8K0Z7
      Conserved Domains (3) summary
      cd01175
      Location:263 → 347
      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:21 → 247
      COE1_DBD; Transcription factor COE1 DNA-binding domain
      pfam16423
      Location:348 → 391
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    3. NM_001324103.2 → NP_001311032.1  transcription factor COE1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC008442, AC008640, AC134043, AC140770
      UniProtKB/TrEMBL
      A8K0Z7
      Conserved Domains (3) summary
      cd01175
      Location:262 → 346
      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:21 → 247
      COE1_DBD; Transcription factor COE1 DNA-binding domain
      pfam16423
      Location:347 → 390
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    4. NM_001324106.2 → NP_001311035.1  transcription factor COE1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC008442, AC008640, AC134043, AC140770
      UniProtKB/TrEMBL
      A8K0Z7
      Conserved Domains (3) summary
      cd01175
      Location:254 → 338
      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:21 → 247
      COE1_DBD; Transcription factor COE1 DNA-binding domain
      pfam16423
      Location:339 → 382
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    5. NM_001324107.2 → NP_001311036.1  transcription factor COE1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC008442, AC008640, AC134043, AC140770
      UniProtKB/TrEMBL
      A8K0Z7
      Conserved Domains (3) summary
      cd01175
      Location:255 → 339
      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:21 → 247
      COE1_DBD; Transcription factor COE1 DNA-binding domain
      pfam16423
      Location:340 → 383
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    6. NM_001324108.2 → NP_001311037.1  transcription factor COE1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC008442, AC008640, AC134043, AC140770
      UniProtKB/TrEMBL
      A8K0Z7
      Conserved Domains (3) summary
      cd01175
      Location:254 → 338
      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:21 → 247
      COE1_DBD; Transcription factor COE1 DNA-binding domain
      pfam16423
      Location:339 → 382
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    7. NM_001324109.2 → NP_001311038.1  transcription factor COE1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC008442, AC008640, AC134043, AC140770
      UniProtKB/TrEMBL
      A8K0Z7
      Conserved Domains (3) summary
      cd01175
      Location:263 → 347
      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:21 → 247
      COE1_DBD; Transcription factor COE1 DNA-binding domain
      pfam16423
      Location:348 → 391
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    8. NM_001324111.2 → NP_001311040.1  transcription factor COE1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC008442, AC008640, AC134043, AC140770
      UniProtKB/TrEMBL
      B4E172
      Related
      ENST00000519739.5
      Conserved Domains (3) summary
      cd01175
      Location:130 → 214
      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:215 → 258
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain
      cl17007
      Location:1 → 114
      COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain

    9. NM_001364155.2 → NP_001351084.1  transcription factor COE1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC008442, AC008640, AC134043, AC140770
      UniProtKB/TrEMBL
      A8K0Z7
      Related
      ENSP00000428020.1, ENST00000517373.1
      Conserved Domains (3) summary
      cd01175
      Location:262 → 346
      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:21 → 247
      COE1_DBD; Transcription factor COE1 DNA-binding domain
      pfam16423
      Location:347 → 390
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    10. NM_001364156.2 → NP_001351085.1  transcription factor COE1 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC008442, AC008640, AC134043, AC140770
      UniProtKB/TrEMBL
      A8K0Z7
      Conserved Domains (3) summary
      cd11606
      Location:7 → 209
      COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
      cd01175
      Location:224 → 308
      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:309 → 352
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    11. NM_001364157.2 → NP_001351086.1  transcription factor COE1 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC008442, AC008640, AC134043, AC140770
      UniProtKB/TrEMBL
      A8K0Z7
      Conserved Domains (3) summary
      cd11606
      Location:7 → 209
      COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
      cd01175
      Location:225 → 309
      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:310 → 353
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    12. NM_001364158.2 → NP_001351087.1  transcription factor COE1 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC008442, AC008640, AC134043, AC140770
      UniProtKB/TrEMBL
      B4E172
      Conserved Domains (3) summary
      cd01175
      Location:121 → 205
      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:206 → 249
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain
      cl17007
      Location:1 → 114
      COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain

    13. NM_001364159.2 → NP_001351088.1  transcription factor COE1 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC008442, AC008640, AC134043, AC140770
      UniProtKB/TrEMBL
      B4E172
      Related
      ENST00000519890.5
      Conserved Domains (3) summary
      cd01175
      Location:129 → 213
      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:214 → 257
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain
      cl17007
      Location:1 → 114
      COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain

    14. NM_024007.5 → NP_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
      UniProtKB/TrEMBL
      A8K0Z7
      Related
      ENSP00000322898.6, ENST00000313708.11
      Conserved Domains (3) summary
      cd01175
      Location:262 → 346
      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:21 → 247
      COE1_DBD; Transcription factor COE1 DNA-binding domain
      pfam16423
      Location:347 → 390
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    15. NM_182708.3 → NP_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/TrEMBL
      A8K0Z7
      Related
      ENSP00000370029.4, ENST00000380654.8
      Conserved Domains (3) summary
      cd01175
      Location:231 → 315
      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:21 → 224
      COE1_DBD; Transcription factor COE1 DNA-binding domain
      pfam16423
      Location:316 → 359
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047416890.1 → XP_047272846.1  transcription factor COE1 isoform X5

      UniProtKB/TrEMBL
      A8K0Z7

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

      UniProtKB/TrEMBL
      A8K0Z7

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

      UniProtKB/TrEMBL
      B4E172

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

      UniProtKB/TrEMBL
      A8K0Z7
      Conserved Domains (3) summary
      cd01175
      Location:255 → 339
      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:21 → 247
      COE1_DBD; Transcription factor COE1 DNA-binding domain
      pfam16423
      Location:340 → 383
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    5. XM_024454390.2 → XP_024310158.1  transcription factor COE1 isoform X6

      UniProtKB/TrEMBL
      B4E172
      Conserved Domains (3) summary
      cd01175
      Location:130 → 214
      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:1 → 114
      COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
      pfam16423
      Location:215 → 258
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    6. XM_047416888.1 → XP_047272844.1  transcription factor COE1 isoform X3

      UniProtKB/TrEMBL
      A8K0Z7

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

      UniProtKB/TrEMBL
      A8K0Z7

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

      UniProtKB/TrEMBL
      B4E172
      Conserved Domains (3) summary
      cd01175
      Location:130 → 214
      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:1 → 114
      COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
      pfam16423
      Location:215 → 258
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain

    9. XM_017009200.3 → XP_016864689.1  transcription factor COE1 isoform X7

      UniProtKB/TrEMBL
      B4E172
      Conserved Domains (3) summary
      cd01175
      Location:56 → 140
      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:141 → 184
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain
      cl17007
      Location:1 → 40
      COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain

    10. XM_017009199.2 → XP_016864688.1  transcription factor COE1 isoform X7

      UniProtKB/TrEMBL
      B4E172
      Conserved Domains (3) summary
      cd01175
      Location:56 → 140
      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:141 → 184
      COE1_HLH; Transcription factor COE1 helix-loop-helix domain
      cl17007
      Location:1 → 40
      COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain

    11. XM_017009203.2 → XP_016864692.1  transcription factor COE1 isoform X10

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

    13. XM_047416892.1 → XP_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)

    mRNA and Protein(s)

    1. XM_054351962.1 → XP_054207937.1  transcription factor COE1 isoform X5

      UniProtKB/TrEMBL
      A8K0Z7

    2. XM_054351961.1 → XP_054207936.1  transcription factor COE1 isoform X4

      UniProtKB/TrEMBL
      A8K0Z7

    3. XM_054351967.1 → XP_054207942.1  transcription factor COE1 isoform X8

      UniProtKB/TrEMBL
      B4E172

    4. XM_054351958.1 → XP_054207933.1  transcription factor COE1 isoform X1

      UniProtKB/TrEMBL
      A8K0Z7

    5. XM_054351964.1 → XP_054207939.1  transcription factor COE1 isoform X6

      UniProtKB/TrEMBL
      B4E172

    6. XM_054351963.1 → XP_054207938.1  transcription factor COE1 isoform X6

      UniProtKB/TrEMBL
      B4E172

    7. XM_054351960.1 → XP_054207935.1  transcription factor COE1 isoform X3

      UniProtKB/TrEMBL
      A8K0Z7

    8. XM_054351959.1 → XP_054207934.1  transcription factor COE1 isoform X2

      UniProtKB/TrEMBL
      A8K0Z7

    9. XM_054351966.1 → XP_054207941.1  transcription factor COE1 isoform X7

      UniProtKB/TrEMBL
      B4E172

    10. XM_054351965.1 → XP_054207940.1  transcription factor COE1 isoform X7

      UniProtKB/TrEMBL
      B4E172

    11. XM_054351969.1 → XP_054207944.1  transcription factor COE1 isoform X10

    12. XM_054351968.1 → XP_054207943.1  transcription factor COE1 isoform X9

    13. XM_054351970.1 → XP_054207945.1  transcription factor COE1 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UH73.2 GenPept UniProtKB/Swiss-Prot:Q9UH73

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