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ELF5 E74 like ETS transcription factor 5 [ Homo sapiens (human) ]

Gene ID: 2001, updated on 3-Apr-2024

Summary

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Official Symbol
ELF5provided by HGNC
Official Full Name
E74 like ETS transcription factor 5provided by HGNC
Primary source
HGNC:HGNC:3320
See related
Ensembl:ENSG00000135374 MIM:605169; AllianceGenome:HGNC:3320
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ESE2
Summary
This gene encodes an epithelium-specific ETS family transcription factor. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very low affinity to DNA due to its negative regulatory domain at the amino terminus. This gene has been implicated as a tumor suppressive transcription factor in breast cancer. [provided by RefSeq, May 2022]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Expression
Biased expression in salivary gland (RPKM 27.3), kidney (RPKM 9.7) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
11p13
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (34478791..34513794, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (34615634..34650642, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (34500338..34535341, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4604 Neighboring gene catalase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:34517695-34518194 Neighboring gene Sharpr-MPRA regulatory region 13672 Neighboring gene long intergenic non-protein coding RNA 2707 Neighboring gene Sharpr-MPRA regulatory region 2953 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:34620676-34621875 Neighboring gene Sharpr-MPRA regulatory region 12213 Neighboring gene CRISPRi-validated cis-regulatory element chr11.1780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4605 Neighboring gene ETS homologous factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4606

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. ELF5 is a potential respiratory epithelial cell-specific risk gene for severe COVID-19. Pietzner M, et al. Nat Commun, 2022 Aug 15. PMID 35970849, Free PMC Article
  2. Breast-Specific Molecular Clocks Comprised of ELF5 Expression and Promoter Methylation Identify Individuals Susceptible to Cancer Initiation. Miyano M, et al. Cancer Prev Res (Phila), 2021 Aug. PMID 34140348, Free PMC Article
  3. ELF5 modulates the estrogen receptor cistrome in breast cancer. Piggin CL, et al. PLoS Genet, 2020 Jan. PMID 31895944, Free PMC Article
  4. Overexpression of E74-Like Factor 5 (ELF5) Inhibits Migration and Invasion of Ovarian Cancer Cells. Zhang X, et al. Med Sci Monit, 2019 Jan 30. PMID 30696803, Free PMC Article
  5. Effect of the normal mammary differentiation regulator ELF5 upon clinical outcomes of triple negative breast cancers patients. Omata F, et al. Breast Cancer, 2018 Jul. PMID 29396764

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ELF5 is a potential respiratory epithelial cell-specific risk gene for severe COVID-19.
    Title: ELF5 is a potential respiratory epithelial cell-specific risk gene for severe COVID-19.
  2. Breast-Specific Molecular Clocks Comprised of ELF5 Expression and Promoter Methylation Identify Individuals Susceptible to Cancer Initiation.
    Title: Breast-Specific Molecular Clocks Comprised of ELF5 Expression and Promoter Methylation Identify Individuals Susceptible to Cancer Initiation.
  3. ELF5 inhibits the proliferation and invasion of breast cancer cells by regulating CD24.
    Title: ELF5 inhibits the proliferation and invasion of breast cancer cells by regulating CD24.
  4. WWOX regulates the Elf5/Snail1 pathway to affect epithelial-mesenchymal transition of ovarian carcinoma cells in vitro.
    Title: WWOX regulates the Elf5/Snail1 pathway to affect epithelial-mesenchymal transition of ovarian carcinoma cells in vitro.
  5. Coordinate regulation of ELF5 and EHF at the chr11p13 CF modifier region.
    Title: Coordinate regulation of ELF5 and EHF at the chr11p13 CF modifier region.
  6. A negative correlation between ELF5, FBXW7 and IFNGR1 expression in the tumours of patients with TNBC.
    Title: Loss of ELF5-FBXW7 stabilizes IFNGR1 to promote the growth and metastasis of triple-negative breast cancer through interferon-γ signalling.
  7. ELF5 alters ER-driven gene expression via ER/FOXA1 cistrome and by modulating the expression of members of the ER transcriptional complex in breast cancer cells.
    Title: ELF5 modulates the estrogen receptor cistrome in breast cancer.
  8. Authors found that expression of ELF5 was obviously decreased in ovarian cancer cell lines. The cells viability, invasion and metastasis were inhibited by overexpression ELF5.
    Title: Overexpression of E74-Like Factor 5 (ELF5) Inhibits Migration and Invasion of Ovarian Cancer Cells.
  9. Elf5 expression was associated with decreased overall and disease-free survival of triple negative breast cancers patients.
    Title: Effect of the normal mammary differentiation regulator ELF5 upon clinical outcomes of triple negative breast cancers patients.
  10. When ELF5 was transfected into the parental MCF7 cells that lack CEACAM1, lumen formation was restored, indicating that ELF5 can replace CEACAM1 in this model system of lumenogenesis.
    Title: ETS transcription factor ELF5 induces lumen formation in a 3D model of mammary morphogenesis and its expression is inhibited by Jak2 inhibitor TG101348.
Submit: New GeneRIF Correction See all GeneRIFs (26)

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
Genetic determinants of plasma β₂-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.
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)

Genotypes

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

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ETS-related transcription factor Elf-5
Names
E74-like factor 5 (ets domain transcription factor)
epithelium-restricted ESE-1-related Ets factor
epithelium-specific Ets transcription factor 2

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.

Genomic

  1. NG_029477.2 RefSeqGene

    Range
    5000..40003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243080.2 → NP_001230009.1  ETS-related transcription factor Elf-5 isoform 3

    See identical proteins and their annotated locations for NP_001230009.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AL137224
    Consensus CDS
    CCDS58129.1
    UniProtKB/Swiss-Prot
    Q9UKW6
    UniProtKB/TrEMBL
    A8K443
    Related
    ENSP00000407589.2, ENST00000429939.6
    Conserved Domains (1) summary
    smart00413
    Location:69 → 153
    ETS; erythroblast transformation specific domain

  2. NM_001243081.2 → NP_001230010.1  ETS-related transcription factor Elf-5 isoform 4

    See identical proteins and their annotated locations for NP_001230010.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL137224
    Consensus CDS
    CCDS73273.1
    UniProtKB/TrEMBL
    A0A087X1W9
    Related
    ENSP00000484521.1, ENST00000620316.4
    Conserved Domains (1) summary
    smart00413
    Location:96 → 180
    ETS; erythroblast transformation specific domain

  3. NM_001422.4 → NP_001413.1  ETS-related transcription factor Elf-5 isoform 2

    See identical proteins and their annotated locations for NP_001413.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2, also called ESE-2b) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AL137224
    Consensus CDS
    CCDS7893.1
    UniProtKB/TrEMBL
    A0A669KB78, A8K443
    Related
    ENSP00000257832.3, ENST00000257832.7
    Conserved Domains (2) summary
    smart00413
    Location:164 → 248
    ETS; erythroblast transformation specific domain
    cl15755
    Location:39 → 122
    SAM_superfamily; SAM (Sterile alpha motif )

  4. NM_198381.2 → NP_938195.1  ETS-related transcription factor Elf-5 isoform 1

    See identical proteins and their annotated locations for NP_938195.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also called ESE-2a).
    Source sequence(s)
    AL137224
    Consensus CDS
    CCDS7892.1
    UniProtKB/Swiss-Prot
    A6XAE6, A8K452, O95175, Q8N2K9, Q96QY3, Q9UKW5, Q9UKW6
    UniProtKB/TrEMBL
    A0A669KB78
    Related
    ENSP00000311010.2, ENST00000312319.6
    Conserved Domains (2) summary
    cd08538
    Location:49 → 132
    SAM_PNT-ESE-2-like; Sterile alpha motif (SAM)/Pointed domain of ESE-2 like ETS transcriptional regulators
    smart00413
    Location:174 → 258
    ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    34478791..34513794 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017308.2 → XP_016872797.1  ETS-related transcription factor Elf-5 isoform X1

    UniProtKB/TrEMBL
    A0A669KB78

  2. XM_017017309.2 → XP_016872798.1  ETS-related transcription factor Elf-5 isoform X2

    UniProtKB/TrEMBL
    A0A669KB78

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    34615634..34650642 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367960.1 → XP_054223935.1  ETS-related transcription factor Elf-5 isoform X1

  2. XM_054367961.1 → XP_054223936.1  ETS-related transcription factor Elf-5 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKW6.2 GenPept UniProtKB/Swiss-Prot:Q9UKW6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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