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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
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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
  • 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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