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

    Gene ID: 2001, updated on 28-Oct-2024

    Summary

    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

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_001243080.2NP_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:69153
      ETS; erythroblast transformation specific domain
    2. NM_001243081.2NP_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:96180
      ETS; erythroblast transformation specific domain
    3. NM_001422.4NP_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:164248
      ETS; erythroblast transformation specific domain
      cl15755
      Location:39122
      SAM_superfamily; SAM (Sterile alpha motif )
    4. NM_198381.2NP_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:49132
      SAM_PNT-ESE-2-like; Sterile alpha motif (SAM)/Pointed domain of ESE-2 like ETS transcriptional regulators
      smart00413
      Location:174258
      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_017017308.2XP_016872797.1  ETS-related transcription factor Elf-5 isoform X1

      UniProtKB/TrEMBL
      A0A669KB78
    2. XM_017017309.2XP_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_054367960.1XP_054223935.1  ETS-related transcription factor Elf-5 isoform X1

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