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

    Gene ID: 2001, updated on 14-Oct-2018

    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; Vega:OTTHUMG00000166451
    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
    The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. 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. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]
    Expression
    Biased expression in salivary gland (RPKM 27.3), kidney (RPKM 9.7) and 2 other tissues See more
    Orthologs

    Genomic context

    See ELF5 in Genome Data Viewer
    Location:
    11p13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (34478791..34513800, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (34500342..34535347, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376622 Neighboring gene catalase Neighboring gene uncharacterized LOC105376623 Neighboring gene ETS homologous factor

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Prolactin signaling pathway, organism-specific biosystem (from KEGG)
      Prolactin signaling pathway, organism-specific biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...
    • Prolactin signaling pathway, conserved biosystem (from KEGG)
      Prolactin signaling pathway, conserved biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    ectodermal cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    somatic stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    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)

    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_029477.1 RefSeqGene

      Range
      5001..40006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243080.1NP_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)
      AF115403, AK075197, BC029743, DQ123839
      Consensus CDS
      CCDS58129.1
      UniProtKB/Swiss-Prot
      Q9UKW6
      UniProtKB/TrEMBL
      A8K443
      Related
      ENSP00000407589.2, OTTHUMP00000232934, ENST00000429939.6, OTTHUMT00000389846
      Conserved Domains (1) summary
      smart00413
      Location:69153
      ETS; erythroblast transformation specific domain
    2. NM_001243081.1NP_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)
      AF115403, AK075197, BC029743, DA630849
      Consensus CDS
      CCDS73273.1
      UniProtKB/Swiss-Prot
      Q9UKW6
      UniProtKB/TrEMBL
      A0A087X1W9, A8K443
      Related
      ENSP00000484521.1, ENST00000620316.4
      Conserved Domains (1) summary
      smart00413
      Location:96180
      ETS; erythroblast transformation specific domain
    3. NM_001422.3NP_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)
      AF115403, AK075197, BC029743, BP358543
      Consensus CDS
      CCDS7893.1
      UniProtKB/Swiss-Prot
      Q9UKW6
      UniProtKB/TrEMBL
      A8K443
      Related
      ENSP00000257832.2, OTTHUMP00000232932, ENST00000257832.6, OTTHUMT00000389844
      Conserved Domains (2) summary
      smart00413
      Location:164248
      ETS; erythroblast transformation specific domain
      cl15755
      Location:39122
      SAM_superfamily; SAM (Sterile alpha motif )
    4. NM_198381.1NP_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)
      AF115402, AK075197, BC029743
      Consensus CDS
      CCDS7892.1
      UniProtKB/Swiss-Prot
      Q9UKW6
      UniProtKB/TrEMBL
      A8K443
      Related
      ENSP00000311010.2, OTTHUMP00000232933, ENST00000312319.6, OTTHUMT00000389845
      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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      34478791..34513800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

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

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