Human Gene EVL (ENST00000392920.8_7) from GENCODE V47lift37
  Description: Enah/Vasp-like, transcript variant 1 (from RefSeq NM_016337.3)
Gencode Transcript: ENST00000392920.8_7
Gencode Gene: ENSG00000196405.13_11
Transcript (Including UTRs)
   Position: hg19 chr14:100,531,759-100,610,573 Size: 78,815 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr14:100,531,838-100,610,075 Size: 78,238 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:100,531,759-100,610,573)mRNA (may differ from genome)Protein (418 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EVL_HUMAN
DESCRIPTION: RecName: Full=Ena/VASP-like protein; AltName: Full=Ena/vasodilator-stimulated phosphoprotein-like;
FUNCTION: Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. EVL enhances actin nucleation and polymerization. Required to transform actin polymerization into active movement for the propulsive force of Listeria monocytogenes (By similarity).
SUBUNIT: Homotetramer (By similarity). Binds to the SH3 domains of ABL1, LYN and SRC. Also binds to profilin, with preference for isoform IIa of PFN2, and the WW domain of APBB1/FE65. Binds to SEMA6A. Interacts, via the Pro-rich region, with the C-terminal SH3 domain of DNMBP. Interacts with RAPH1. Binds, via the EVH1 domain, the Pro-rich domain of Listeria monocytogenes actA (By similarity). Binds, via the EVH1 domain, the Pro-rich domain of ZYX.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Cell projection, lamellipodium (By similarity). Note=Targeted to the leading edge of lamellipodia and the dital tip of stress fibers through interaction with a number of proteins. In activated T-cells, localizes to the F-actin collar and the distal tip of microspikes (By similarity).
DOMAIN: The EVH2 domain is comprised of 3 regions. Block A is a thymosin-like domain required for G-actin binding. The KLKR motif within this block is essential for the G-actin binding and for actin polymerization. Block B is required for F-actin binding and subcellular location, and Block C for tetramerization.
PTM: Phosphorylated by PKA; phosphorylation abolishes binding to SH3 domains of ABL and SRC (By similarity).
SIMILARITY: Belongs to the Ena/VASP family.
SIMILARITY: Contains 1 WH1 domain.

-  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: EVL
Diseases sorted by gene-association score: esophageal varix (3), vein disease (2)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.72 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 829.25 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 -33.2079-0.420 Picture PostScript Text
3' UTR -177.00498-0.355 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
IPR000697 - EVH1
IPR011993 - PH_like_dom
IPR017354 - Vasodilator_phosphoprotein
IPR014885 - VASP_tetra

Pfam Domains:
PF00568 - WH1 domain
PF08776 - VASP tetramerisation domain

SCOP Domains:
101447 - Formin homology 2 domain (FH2 domain)
50729 - PH domain-like
118370 - Vasodilator-stimulated phosphoprotein, VASP, tetramerisation domain

ModBase Predicted Comparative 3D Structure on Q9UI08
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005522 profilin binding
GO:0017124 SH3 domain binding

Biological Process:
GO:0007015 actin filament organization
GO:0007166 cell surface receptor signaling pathway
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0008154 actin polymerization or depolymerization
GO:0009887 animal organ morphogenesis
GO:0010633 negative regulation of epithelial cell migration
GO:0030838 positive regulation of actin filament polymerization
GO:0045010 actin nucleation
GO:0051289 protein homotetramerization
GO:0051496 positive regulation of stress fiber assembly
GO:0071346 cellular response to interferon-gamma
GO:1900028 negative regulation of ruffle assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0030027 lamellipodium
GO:0042995 cell projection
GO:0045335 phagocytic vesicle


-  Descriptions from all associated GenBank mRNAs
  AK289720 - Homo sapiens cDNA FLJ75966 complete cds, highly similar to Homo sapiens Enah/Vasp-like, mRNA.
BC023997 - Homo sapiens Enah/Vasp-like, mRNA (cDNA clone MGC:2527 IMAGE:2822488), complete cds.
GQ900911 - Homo sapiens clone HEL-T-23 epididymis secretory sperm binding protein mRNA, complete cds.
AF112209 - Homo sapiens Ena-VASP-like protein mRNA, complete cds.
AK295919 - Homo sapiens cDNA FLJ58489 complete cds, highly similar to Ena/VASP-like protein.
AK301379 - Homo sapiens cDNA FLJ61429 complete cds, highly similar to Ena/VASP-like protein.
AF087843 - Homo sapiens B6 mRNA, complete cds.
BC032358 - Homo sapiens Enah/Vasp-like, mRNA (cDNA clone MGC:40296 IMAGE:5222624), complete cds.
AF052504 - Homo sapiens RNB6 (RNB6) mRNA, complete cds.
JD162533 - Sequence 143557 from Patent EP1572962.
CU689356 - Synthetic construct Homo sapiens gateway clone IMAGE:100019308 5' read EVL mRNA.
CU692834 - Synthetic construct Homo sapiens gateway clone IMAGE:100021926 5' read EVL mRNA.
HQ447311 - Synthetic construct Homo sapiens clone IMAGE:100070623; CCSB009744_01 Enah/Vasp-like (EVL) gene, encodes complete protein.
KJ893917 - Synthetic construct Homo sapiens clone ccsbBroadEn_03311 EVL gene, encodes complete protein.
KJ901065 - Synthetic construct Homo sapiens clone ccsbBroadEn_10459 EVL gene, encodes complete protein.
AB528996 - Synthetic construct DNA, clone: pF1KE0936, Homo sapiens EVL gene for Enah/Vasp-like protein, without stop codon, in Flexi system.
DQ893343 - Synthetic construct clone IMAGE:100005973; FLH196443.01X; RZPDo839D05156D Enah/Vasp-like (EVL) gene, encodes complete protein.
KY819016 - Homo sapiens EVL isoform 5 (EVL) mRNA, complete cds, alternatively spliced.
JD025017 - Sequence 6041 from Patent EP1572962.
JD031244 - Sequence 12268 from Patent EP1572962.
JD020291 - Sequence 1315 from Patent EP1572962.
JD029154 - Sequence 10178 from Patent EP1572962.
AF131766 - Homo sapiens clone 24860 Ena-VASP like protein mRNA sequence, partial cds.
AL133642 - Homo sapiens mRNA; cDNA DKFZp586G1721 (from clone DKFZp586G1721).
AK092467 - Homo sapiens cDNA FLJ35148 fis, clone PLACE6010484.
BC049376 - Homo sapiens Enah/Vasp-like, mRNA (cDNA clone IMAGE:5278562), complete cds.
AK091634 - Homo sapiens cDNA FLJ34315 fis, clone FEBRA2008341.
AX747103 - Sequence 628 from Patent EP1308459.
JD335241 - Sequence 316265 from Patent EP1572962.
JD383324 - Sequence 364348 from Patent EP1572962.
JD236352 - Sequence 217376 from Patent EP1572962.
JD356907 - Sequence 337931 from Patent EP1572962.
JD490211 - Sequence 471235 from Patent EP1572962.
JD542230 - Sequence 523254 from Patent EP1572962.
JD394903 - Sequence 375927 from Patent EP1572962.
JD139995 - Sequence 121019 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UI08 (Reactome details) participates in the following event(s):

R-HSA-5665982 RHOA:GTP:DIAPH1 binds EVL and sequesters profilin:G-actin from MKL1
R-HSA-376140 Ena/VASP proteins bind ROBO1:SLIT2 complex
R-HSA-430201 p-SLP-76:ADAP binds Ena/VASP
R-HSA-428534 Recruitment of Profilin by Ena/VASP proteins
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-376176 Signaling by ROBO receptors
R-HSA-202433 Generation of second messenger molecules
R-HSA-195258 RHO GTPase Effectors
R-HSA-422475 Axon guidance
R-HSA-202403 TCR signaling
R-HSA-194315 Signaling by Rho GTPases
R-HSA-1266738 Developmental Biology
R-HSA-1280218 Adaptive Immune System
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K105, B7Z3I5, ENST00000392920.1, ENST00000392920.2, ENST00000392920.3, ENST00000392920.4, ENST00000392920.5, ENST00000392920.6, ENST00000392920.7, EVL_HUMAN, NM_016337, O95884, Q7Z522, Q8TBV1, Q9UF25, Q9UI08, Q9UIC2, RNB6, uc318vlz.1, uc318vlz.2
UCSC ID: ENST00000392920.8_7
RefSeq Accession: NM_016337.3
Protein: Q9UI08 (aka EVL_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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