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    ELF1 E74 like ETS transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 1997, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ELF1provided by HGNC
    Official Full Name
    E74 like ETS transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:3316
    See related
    Ensembl:ENSG00000120690 MIM:189973; AllianceGenome:HGNC:3316
    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
    RIA1; EFTUD1
    Summary
    This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
    Expression
    Ubiquitous expression in bone marrow (RPKM 46.7), lymph node (RPKM 34.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ELF1 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (40931919..41061386, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (40150930..40280534, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (41506055..41635522, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene TPTE2 pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:41443930-41444430 Neighboring gene CYCS pseudogene 34 Neighboring gene SUGT1P3 overlapping homotypic cluster of transcription factor binding sites enhancer Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:41495859-41496445 Neighboring gene Sharpr-MPRA regulatory region 5240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7618 Neighboring gene SUGT1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7619 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:41552261-41552452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41567027-41567568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41567569-41568109 Neighboring gene regulator of G protein signaling 17 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5288 Neighboring gene tRNA-Glu (anticodon TTC) 1-2 Neighboring gene WW domain binding protein 4 Neighboring gene microRNA 3168

    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. ELF1 is associated with systemic lupus erythematosus in Asian populations. Yang J, et al. Hum Mol Genet, 2011 Feb 1. PMID 21044949
    2. A novel Ets-related transcription factor, Elf-1, binds to human immunodeficiency virus type 2 regulatory elements that are required for inducible trans activation in T cells. Leiden JM, et al. J Virol, 1992 Oct. PMID 1527846, Free PMC Article
    3. cis-acting sequences required for inducible interleukin-2 enhancer function bind a novel Ets-related protein, Elf-1. Thompson CB, et al. Mol Cell Biol, 1992 Mar. PMID 1545787, Free PMC Article
    4. Activation of the Ets transcription factor Elf-1 requires phosphorylation and glycosylation: defective expression of activated Elf-1 is involved in the decreased TCR zeta chain gene expression in patients with systemic lupus erythematosus. Tsokos GC, et al. Ann N Y Acad Sci, 2003 Apr. PMID 12727645
    5. Genome-wide analyses reveal properties of redundant and specific promoter occupancy within the ETS gene family. Hollenhorst PC, et al. Genes Dev, 2007 Aug 1. PMID 17652178, Free PMC Article

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ELF1/PRR11/ARP2/3 promoted trophoblast cells proliferation and motility in early pregnancy.
      Title: ELF1/PRR11/ARP2/3 promoted trophoblast cells proliferation and motility in early pregnancy.
    2. ELF1 suppresses autophagy to reduce cisplatin resistance via the miR-152-3p/NCAM1/ERK axis in lung cancer cells.
      Title: ELF1 suppresses autophagy to reduce cisplatin resistance via the miR-152-3p/NCAM1/ERK axis in lung cancer cells.
    3. Transcription Factor ELF1 Modulates Cisplatin Sensitivity in Prostate Cancer by Targeting MEIS Homeobox 2.
      Title: Transcription Factor ELF1 Modulates Cisplatin Sensitivity in Prostate Cancer by Targeting MEIS Homeobox 2.
    4. ELF1 Transcription Factor Enhances the Progression of Glioma via ATF5 promoter.
      Title: ELF1 Transcription Factor Enhances the Progression of Glioma via ATF5 promoter.
    5. Transcriptomic Analysis of Naive Human Embryonic Stem Cells Cultured in Three-Dimensional PEG Scaffolds.
      Title: Transcriptomic Analysis of Naïve Human Embryonic Stem Cells Cultured in Three-Dimensional PEG Scaffolds.
    6. ELF1-mediated LUCAT1 promotes choroidal melanoma by modulating RBX1 expression.
      Title: ELF1-mediated LUCAT1 promotes choroidal melanoma by modulating RBX1 expression.
    7. ELF1 activated long non-coding RNA CASC2 inhibits cisplatin resistance of non-small cell lung cancer via the miR-18a/IRF-2 signaling pathway.
      Title: ELF1 activated long non-coding RNA CASC2 inhibits cisplatin resistance of non-small cell lung cancer via the miR-18a/IRF-2 signaling pathway.
    8. We demonstrate that expression of ELF1 is impaired in cHL through genetic and epigenetic alterations, and thus, it may represent an additional member of a TF network whose downregulation contributes to the loss of B-cell phenotype of HRS cells.
      Title: Expression of ELF1, a lymphoid ETS domain-containing transcription factor, is recurrently lost in classical Hodgkin lymphoma.
    9. ELF1 binding occurs at both TERT promoter mutations in melanoma in vitro such that increased recruitment of GABP is enabled by the spatial architecture of native and novel ETS motifs in the TERT promoter region.
      Title: An interaction proteomics survey of transcription factor binding at recurrent TERT promoter mutations.
    10. ELF-1 binds an important duplicated GGAA cis-acting element at the OAS1 promoter and in cooperation with RB1 and SP1 recruitment contributes to regulation in response to IFN stimulation.
      Title: The hematopoietic regulator, ELF-1, enhances the transcriptional response to Interferon-β of the OAS1 anti-viral gene.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    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
    A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
    EBI GWAS Catalog
    ELF1 is associated with systemic lupus erythematosus in Asian populations.
    EBI GWAS Catalog
    Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
    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 activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 negative regulation of T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cytokine production IEA
    Inferred from Electronic Annotation
    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
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ETS-related transcription factor Elf-1
    Names
    E74-like factor 1 (ets domain transcription factor)

    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_001145353.1 → NP_001138825.1  ETS-related transcription factor Elf-1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the mid coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AK304289, AL157877, BX640798, M82882
      Consensus CDS
      CCDS45043.1
      UniProtKB/TrEMBL
      A0A0U1RRL5
      Related
      ENSP00000486912.1, ENST00000625359.1
      Conserved Domains (2) summary
      smart00413
      Location:183 → 265
      ETS; erythroblast transformation specific domain
      pfam12310
      Location:2 → 111
      Elf-1_N; Transcription factor protein N terminal

    2. NM_001370329.1 → NP_001357258.1  ETS-related transcription factor Elf-1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL157877
      UniProtKB/TrEMBL
      A0A0U1RRL5
      Conserved Domains (2) summary
      pfam12310
      Location:1 → 52
      Elf-1_N; Transcription factor protein N terminal
      pfam00178
      Location:151 → 230
      Ets; Ets-domain

    3. NM_001370330.1 → NP_001357259.1  ETS-related transcription factor Elf-1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL157877
      Consensus CDS
      CCDS9374.1
      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1
      UniProtKB/TrEMBL
      A0A0U1RRL5
      Conserved Domains (2) summary
      smart00413
      Location:207 → 289
      ETS; erythroblast transformation specific domain
      pfam12310
      Location:2 → 111
      Elf-1_N; Transcription factor protein N terminal

    4. NM_001370331.1 → NP_001357260.1  ETS-related transcription factor Elf-1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL157877
      Consensus CDS
      CCDS9374.1
      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1
      UniProtKB/TrEMBL
      A0A0U1RRL5
      Related
      ENSP00000489586.1, ENST00000635415.1
      Conserved Domains (2) summary
      smart00413
      Location:207 → 289
      ETS; erythroblast transformation specific domain
      pfam12310
      Location:2 → 111
      Elf-1_N; Transcription factor protein N terminal

    5. NM_001370332.1 → NP_001357261.1  ETS-related transcription factor Elf-1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL157877
      Consensus CDS
      CCDS9374.1
      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1
      UniProtKB/TrEMBL
      A0A0U1RRL5
      Conserved Domains (2) summary
      smart00413
      Location:207 → 289
      ETS; erythroblast transformation specific domain
      pfam12310
      Location:2 → 111
      Elf-1_N; Transcription factor protein N terminal

    6. NM_172373.4 → NP_758961.1  ETS-related transcription factor Elf-1 isoform a

      See identical proteins and their annotated locations for NP_758961.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL157877, BC030507, BX640798, DC418141, M82882
      Consensus CDS
      CCDS9374.1
      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1
      UniProtKB/TrEMBL
      A0A0U1RRL5
      Related
      ENSP00000239882.3, ENST00000239882.7
      Conserved Domains (2) summary
      smart00413
      Location:207 → 289
      ETS; erythroblast transformation specific domain
      pfam12310
      Location:2 → 111
      Elf-1_N; Transcription factor protein N terminal

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      40931919..41061386 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430118.1 → XP_047286074.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    2. XM_047430121.1 → XP_047286077.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    3. XM_047430120.1 → XP_047286076.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    4. XM_047430119.1 → XP_047286075.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    5. XM_047430123.1 → XP_047286079.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    6. XM_047430124.1 → XP_047286080.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    7. XM_047430122.1 → XP_047286078.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      40150930..40280534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374153.1 → XP_054230128.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    2. XM_054374154.1 → XP_054230129.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    3. XM_054374161.1 → XP_054230136.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    4. XM_054374157.1 → XP_054230132.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    5. XM_054374156.1 → XP_054230131.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    6. XM_054374155.1 → XP_054230130.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    7. XM_054374159.1 → XP_054230134.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    8. XM_054374160.1 → XP_054230135.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1

    9. XM_054374158.1 → XP_054230133.1  ETS-related transcription factor Elf-1 isoform X1

      UniProtKB/Swiss-Prot
      B4E2I5, E9PDQ9, P32519, Q8N6F6, Q9UDE1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P32519.2 GenPept UniProtKB/Swiss-Prot:P32519

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