Human Gene ELF4 (ENST00000308167.10) from GENCODE V44
  Description: Homo sapiens E74 like ETS transcription factor 4 (ELF4), transcript variant 1, mRNA. (from RefSeq NM_001421)
RefSeq Summary (NM_001421): The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010].
Gencode Transcript: ENST00000308167.10
Gencode Gene: ENSG00000102034.18
Transcript (Including UTRs)
   Position: hg38 chrX:130,063,955-130,110,497 Size: 46,543 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg38 chrX:130,066,721-130,081,330 Size: 14,610 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:130,063,955-130,110,497)mRNA (may differ from genome)Protein (663 aa)
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OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ELF4_HUMAN
DESCRIPTION: RecName: Full=ETS-related transcription factor Elf-4; AltName: Full=E74-like factor 4; AltName: Full=Myeloid Elf-1-like factor;
FUNCTION: Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter (By similarity). Also transactivates the PRF1 promoter in natural killer (NK) cells. Plays a role in the development and function of NK and NK T-cells and in innate immunity. Controls the proliferation and homing of CD8+ T-cells via the Kruppel-like factors KLF4 and KLF2 (By similarity). Controls cell senescence in a p53-dependent manner. Can also promote cellular transformation through inhibition of the p16 pathway.
SUBUNIT: Interacts with RUNX1 (via the Runt domain); the interaction transactivates the IL3 promoter. Interacts (via its C- terminus) with PML; the interaction translocates ELF4 to PML nuclear bodies and enhances transactivation of LYZ.
SUBCELLULAR LOCATION: Nucleus, PML body. Note=Accumulation into PML nuclear bodies is mediated by PML.
TISSUE SPECIFICITY: Abundantly expressed in the placenta and in a variety of myeloid leukemia cell lines. Moderate levels of expression in heart, lung, spleen, thymus, peripheral blood lymphocytes, ovary and colon. Lower levels of expression in Jurkat T-cells and other T-cell lines and no expression in brain.
INDUCTION: By ponisterone A in erythroleukemia cells.
DISEASE: Note=A chromosomal aberration involving ELF4 has been found in a case of acute myeloid leukemia (AML). Translocation t(X;21)(q25-26;q22) with ERG.
SIMILARITY: Belongs to the ETS family.
SIMILARITY: Contains 1 ETS DNA-binding domain.
SEQUENCE CAUTION: Sequence=AAC17452.1; Type=Frameshift; Positions=334, 412;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ELF4
Diseases sorted by gene-association score: agammaglobulinemia and isolated hormone deficiency* (247)
* = Manually curated disease association

-  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: 23.42 RPKM in Whole Blood
Total median expression: 295.42 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 -176.60382-0.462 Picture PostScript Text
3' UTR -923.202766-0.334 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
IPR022084 - TF_Elf_N
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF12310 - Transcription factor protein N terminal
PF00178 - Ets-domain

ModBase Predicted Comparative 3D Structure on Q99607
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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 BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0001787 natural killer cell proliferation
GO:0001866 NK T cell proliferation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0030154 cell differentiation
GO:0045087 innate immune response
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016604 nuclear body
GO:0016605 PML body


-  Descriptions from all associated GenBank mRNAs
  JD070505 - Sequence 51529 from Patent EP1572962.
BC017194 - Homo sapiens E74-like factor 4 (ets domain transcription factor), mRNA (cDNA clone MGC:1755 IMAGE:3138355), complete cds.
U32645 - Human myeloid elf-1 like factor (MEF) mRNA, complete cds.
AF000670 - Homo sapiens elf-1 related protein (ELFR) mRNA, complete cds.
JD245085 - Sequence 226109 from Patent EP1572962.
JD241071 - Sequence 222095 from Patent EP1572962.
JD130466 - Sequence 111490 from Patent EP1572962.
JD230645 - Sequence 211669 from Patent EP1572962.
JD565779 - Sequence 546803 from Patent EP1572962.
JD039308 - Sequence 20332 from Patent EP1572962.
JD211920 - Sequence 192944 from Patent EP1572962.
JD525808 - Sequence 506832 from Patent EP1572962.
JD158327 - Sequence 139351 from Patent EP1572962.
JD043291 - Sequence 24315 from Patent EP1572962.
JD099327 - Sequence 80351 from Patent EP1572962.
JD232158 - Sequence 213182 from Patent EP1572962.
JD076336 - Sequence 57360 from Patent EP1572962.
JD045026 - Sequence 26050 from Patent EP1572962.
JD141392 - Sequence 122416 from Patent EP1572962.
JD193622 - Sequence 174646 from Patent EP1572962.
JD070840 - Sequence 51864 from Patent EP1572962.
JD463439 - Sequence 444463 from Patent EP1572962.
JD253389 - Sequence 234413 from Patent EP1572962.
JD145342 - Sequence 126366 from Patent EP1572962.
JD122291 - Sequence 103315 from Patent EP1572962.
BC114355 - Homo sapiens cDNA clone IMAGE:40022452.
BC114356 - Homo sapiens cDNA clone IMAGE:40022459.
JD245349 - Sequence 226373 from Patent EP1572962.
JD316158 - Sequence 297182 from Patent EP1572962.
JD311568 - Sequence 292592 from Patent EP1572962.
JD448979 - Sequence 430003 from Patent EP1572962.
JD181619 - Sequence 162643 from Patent EP1572962.
JD045392 - Sequence 26416 from Patent EP1572962.
JD170514 - Sequence 151538 from Patent EP1572962.
JD318763 - Sequence 299787 from Patent EP1572962.
JD221270 - Sequence 202294 from Patent EP1572962.
JD564776 - Sequence 545800 from Patent EP1572962.
JD470124 - Sequence 451148 from Patent EP1572962.
JD146893 - Sequence 127917 from Patent EP1572962.
JD240168 - Sequence 221192 from Patent EP1572962.
JD566300 - Sequence 547324 from Patent EP1572962.
JD282760 - Sequence 263784 from Patent EP1572962.
JD492347 - Sequence 473371 from Patent EP1572962.
JD394965 - Sequence 375989 from Patent EP1572962.
JD531999 - Sequence 513023 from Patent EP1572962.
JD087859 - Sequence 68883 from Patent EP1572962.
AK314972 - Homo sapiens cDNA, FLJ95888.
DQ892234 - Synthetic construct clone IMAGE:100004864; FLH184375.01X; RZPDo839F03144D E74-like factor 4 (ets domain transcription factor) (ELF4) gene, encodes complete protein.
KJ891102 - Synthetic construct Homo sapiens clone ccsbBroadEn_00496 ELF4 gene, encodes complete protein.
KR710245 - Synthetic construct Homo sapiens clone CCSBHm_00010850 ELF4 (ELF4) mRNA, encodes complete protein.
DQ895435 - Synthetic construct Homo sapiens clone IMAGE:100009895; FLH184371.01L; RZPDo839F03143D E74-like factor 4 (ets domain transcription factor) (ELF4) gene, encodes complete protein.
AB528413 - Synthetic construct DNA, clone: pF1KB6195, Homo sapiens ELF4 gene for ETS-related transcription factor Elf-4, without stop codon, in Flexi system.
CU677855 - Synthetic construct Homo sapiens gateway clone IMAGE:100018399 5' read ELF4 mRNA.
JD115056 - Sequence 96080 from Patent EP1572962.
JD390356 - Sequence 371380 from Patent EP1572962.
JD278082 - Sequence 259106 from Patent EP1572962.
JD466428 - Sequence 447452 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DTG1, ELF4_HUMAN, ELFR, ENST00000308167.1, ENST00000308167.2, ENST00000308167.3, ENST00000308167.4, ENST00000308167.5, ENST00000308167.6, ENST00000308167.7, ENST00000308167.8, ENST00000308167.9, MEF, NM_001421, O60435, Q99607, uc004evd.1, uc004evd.2, uc004evd.3, uc004evd.4, uc004evd.5, uc004evd.6
UCSC ID: ENST00000308167.10
RefSeq Accession: NM_001421
Protein: Q99607 (aka ELF4_HUMAN)
CCDS: CCDS14617.1

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