Human Gene ELF5 (ENST00000312319.6) Description and Page Index
  Description: Homo sapiens E74 like ETS transcription factor 5 (ELF5), transcript variant 1, mRNA. (from RefSeq NM_198381)
RefSeq Summary (NM_198381): 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].
Gencode Transcript: ENST00000312319.6
Gencode Gene: ENSG00000135374.9
Transcript (Including UTRs)
   Position: hg38 chr11:34,478,796-34,511,799 Size: 33,004 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr11:34,480,218-34,511,569 Size: 31,352 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:34,478,796-34,511,799)mRNA (may differ from genome)Protein (265 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ELF5_HUMAN
DESCRIPTION: RecName: Full=ETS-related transcription factor Elf-5; AltName: Full=E74-like factor 5; AltName: Full=Epithelium-restricted ESE-1-related Ets factor; AltName: Full=Epithelium-specific Ets transcription factor 2; Short=ESE-2;
FUNCTION: Transcriptionally activator that may play a role in regulating the later stages of keratinocytes terminal differentiation.
FUNCTION: Isoform 2 binds to DNA sequences containing the consensus nucleotide core sequence GGA[AT]. Transcriptionally activates SPRR2A and the parotid gland-specific PSP promoters.
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Expressed exclusively in tissues with a high content of epithelial cells. Highly expressed in salivary gland, mammary gland, kidney and prostate. Weakly expressed in placenta and lung. Isoform 1 and isoform 2 are differentially expressed in different tissues. In the kidney, only isoform 1 was expressed, while prostate expressed both isoforms, with levels of isoform 2 being higher. Expression is up-regulated during keratinocyte differentiation. Several epithelial carcinoma cell lines showed lack of expression.
DOMAIN: The PNT domain acts as a transcriptional activator (By similarity).
SIMILARITY: Belongs to the ETS family.
SIMILARITY: Contains 1 ETS DNA-binding domain.
SIMILARITY: Contains 1 PNT (pointed) domain.

-  MalaCards Disease Associations
  MalaCards Gene Search: ELF5
Diseases sorted by gene-association score: luminal breast carcinoma (2), growth hormone deficiency, isolated, type ii (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.84 RPKM in Minor Salivary Gland
Total median expression: 35.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -86.60230-0.377 Picture PostScript Text
3' UTR -343.301422-0.241 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000418 - Ets
IPR003118 - Pointed_dom
IPR013761 - SAM/pointed
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00178 - Ets-domain
PF02198 - Sterile alpha motif (SAM)/Pointed domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1WWX
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9UKW6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0001712 ectodermal cell fate commitment
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007398 ectoderm development
GO:0008283 cell proliferation
GO:0030154 cell differentiation
GO:0035019 somatic stem cell population maintenance
GO:0045596 negative regulation of cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060644 mammary gland epithelial cell differentiation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK075197 - Homo sapiens cDNA FLJ90716 fis, clone PLACE1008549, highly similar to ETS-related transcription factor Elf-5.
BC029743 - Homo sapiens E74-like factor 5 (ets domain transcription factor), mRNA (cDNA clone MGC:21299 IMAGE:4480123), complete cds.
AF115402 - Homo sapiens Ets transcription factor ESE-2a mRNA, complete cds.
AF115403 - Homo sapiens Ets transcription factor ESE-2b mRNA, complete cds.
AK290817 - Homo sapiens cDNA FLJ77851 complete cds, highly similar to Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.
AK290808 - Homo sapiens cDNA FLJ78106 complete cds, highly similar to Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 2, mRNA.
AF049703 - Homo sapiens E74-like factor 5 (ELF5) mRNA, complete cds.
DQ123839 - Homo sapiens E74-like factor 5 short form (ELF5) mRNA, complete cds.
JD372488 - Sequence 353512 from Patent EP1572962.
AK312537 - Homo sapiens cDNA, FLJ92906, Homo sapiens E74-like factor 5 (ets domain transcription factor)(ELF5), mRNA.
CU688734 - Synthetic construct Homo sapiens gateway clone IMAGE:100018619 5' read ELF5 mRNA.
KJ891103 - Synthetic construct Homo sapiens clone ccsbBroadEn_00497 ELF5 gene, encodes complete protein.
DQ891137 - Synthetic construct clone IMAGE:100003767; FLH169648.01X; RZPDo839E0896D E74-like factor 5 (ets domain transcription factor) (ELF5) gene, encodes complete protein.
DQ894316 - Synthetic construct Homo sapiens clone IMAGE:100008776; FLH169644.01L; RZPDo839E0895D E74-like factor 5 (ets domain transcription factor) (ELF5) gene, encodes complete protein.
AB528439 - Synthetic construct DNA, clone: pF1KB7961, Homo sapiens ELF5 gene for E74-like factor 5, without stop codon, in Flexi system.
KP189192 - Homo sapiens ZFPM2-ELF5 fusion protein mRNA, partial cds.
AK074633 - Homo sapiens cDNA FLJ90152 fis, clone HEMBB1002051, weakly similar to Homo sapiens Ets transcription factor ESE-2b mRNA.
JD100844 - Sequence 81868 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K452, ELF5_HUMAN, ESE2, NM_198381, O95175, Q8N2K9, Q96QY3, Q9UKW5, Q9UKW6, uc001mvo.1, uc001mvo.2
UCSC ID: uc001mvo.2
RefSeq Accession: NM_198381
Protein: Q9UKW6 (aka ELF5_HUMAN)
CCDS: CCDS7892.1, CCDS7893.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.