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

    Gene ID: 2001, updated on 2-Nov-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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    See ELF5 in Genome Data Viewer
    Location:
    11p13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (34478791..34513794, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (34615634..34650642, complement)
    RS_2024_09 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 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 modulates the estrogen receptor cistrome in breast cancer. Piggin CL, et al. PLoS Genet, 2020 Jan. PMID 31895944, Free PMC Article
    2. Epigenetic regulation of Elf5 is associated with epithelial-mesenchymal transition in urothelial cancer. Wu B, et al. PLoS One, 2015. PMID 25629735, Free PMC Article
    3. Polymorphisms of EHF-ELF5 genomic region and its association with pediatric asthma in the Taiwanese population. Wang JY, et al. J Microbiol Immunol Infect, 2016 Dec. PMID 25648666
    4. ELF5 isoform expression is tissue-specific and significantly altered in cancer. Piggin CL, et al. Breast Cancer Res, 2016 Jan 7. PMID 26738740, Free PMC Article
    5. ELF5 suppresses estrogen sensitivity and underpins the acquisition of antiestrogen resistance in luminal breast cancer. Kalyuga M, et al. PLoS Biol, 2012. PMID 23300383, Free PMC Article

    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)

    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
    located_in 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_2024_08

    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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