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

Gene ID: 2001, updated on 8-Dec-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
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 Apr 4 07:08:55 2018

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, ENST00000429939.6
    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, ENST00000257832.6
    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, 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: Homo sapiens Annotation Release 109

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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