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    EVL Enah/Vasp-like [ Homo sapiens (human) ]

    Gene ID: 51466, updated on 5-May-2024

    Summary

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    Official Symbol
    EVLprovided by HGNC
    Official Full Name
    Enah/Vasp-likeprovided by HGNC
    Primary source
    HGNC:HGNC:20234
    See related
    Ensembl:ENSG00000196405 MIM:616912; AllianceGenome:HGNC:20234
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RNB6
    Summary
    Predicted to enable SH3 domain binding activity and profilin binding activity. Involved in negative regulation of epithelial cell migration; negative regulation of ruffle assembly; and positive regulation of stress fiber assembly. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in lymph node (RPKM 31.5), spleen (RPKM 27.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q32.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (99971422..100144236)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (94204463..94377284)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100437759..100610573)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100412450-100413378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100416877-100417378 Neighboring gene RNA, U1 small nuclear 47, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100434342-100434951 Neighboring gene Sharpr-MPRA regulatory region 1879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6072 Neighboring gene voltage dependent anion channel 3 pseudogene 1 Neighboring gene ribosomal protein S2 pseudogene 3 Neighboring gene uncharacterized LOC124903379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9018 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:100534710-100535909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9021 Neighboring gene uncharacterized LOC124903381 Neighboring gene microRNA 151b Neighboring gene microRNA 342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100604691-100605396 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100605397-100606101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100611023-100611523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100613080-100613600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100613601-100614119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6074 Neighboring gene uncharacterized LOC124903380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100632407-100632908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100632909-100633408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6075 Neighboring gene delta 4-desaturase, sphingolipid 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100680080-100680580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100684247-100684748 Neighboring gene Sharpr-MPRA regulatory region 8458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100698662-100699162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100699163-100699663 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100704543-100705395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6083 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:100711928-100712136 Neighboring gene YY1 transcription factor Neighboring gene microRNA 6764

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Single-stranded DNA catenation mediated by human EVL and a type I topoisomerase. Takaku M, et al. Nucleic Acids Res, 2010 Nov. PMID 20639531, Free PMC Article
    2. EVL (Ena/VASP-like) expression is up-regulated in human breast cancer and its relative expression level is correlated with clinical stages. Hu LD, et al. Oncol Rep, 2008 Apr. PMID 18357390
    3. Epigenetic silencing of the intronic microRNA hsa-miR-342 and its host gene EVL in colorectal cancer. Grady WM, et al. Oncogene, 2008 Jun 19. PMID 18264139
    4. Epigenetic silencing of EVL/miR-342 in multiple myeloma. Li Z, et al. Transl Res, 2018 Feb. PMID 29242101
    5. Peptide array-based screening reveals a large number of proteins interacting with the ankyrin-repeat domain of the zDHHC17 S-acyltransferase. Lemonidis K, et al. J Biol Chem, 2017 Oct 20. PMID 28882895, Free PMC Article

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Elevated EVL Methylation Level in the Normal Colon Mucosa Is a Potential Risk Biomarker for Developing Recurrent Adenomas.
      Title: Elevated EVL Methylation Level in the Normal Colon Mucosa Is a Potential Risk Biomarker for Developing Recurrent Adenomas.
    2. Exercise effects on DNA methylation in EVL, CDKN2A (p14, ARF), and ESR1 in colon tissue from healthy men and women.
      Title: Exercise effects on DNA methylation in EVL, CDKN2A (p14, ARF), and ESR1 in colon tissue from healthy men and women.
    3. EVL/miR-342 methylation was preferentially detected in IgD multiple myeloma
      Title: Epigenetic silencing of EVL/miR-342 in multiple myeloma.
    4. Identify CRMP-1 as a novel regulator of actin filament elongation and reveal a surprisingly important role for CRMP-1, EVL, and actin polymerization in maintaining the structural integrity of epithelial sheets.
      Title: CRMP-1 enhances EVL-mediated actin elongation to build lamellipodia and the actin cortex.
    5. ENA/VASP-family proteins are functionally redundant in homologous recombination, and MENA, VASP and EVL may be involved in the DSB repair pathway in humans
      Title: Biochemical analysis of the human ENA/VASP-family proteins, MENA, VASP and EVL, in homologous recombination.
    6. EVL, with either E. coli topoisomerase I or human topoisomerase IIIalpha, catalyzed ssDNA catenation.
      Title: Single-stranded DNA catenation mediated by human EVL and a type I topoisomerase.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. EVH2 domain, which is highly conserved among the ENA/VASP family proteins, may be responsible for the recombination function of EVL.
      Title: Biochemical analysis of the human EVL domains in homologous recombination.
    9. EVL protein is a novel recombination factor that may be required for repairing specific DNA lesions, and that may cause tumor malignancy by its inappropriate expression.
      Title: Recombination activator function of the novel RAD51- and RAD51B-binding protein, human EVL.
    10. A microRNA encoded in an intron of the gene EVL, is commonly suppressed in human colorectal cancer.
      Title: Epigenetic silencing of the intronic microRNA hsa-miR-342 and its host gene EVL in colorectal cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with Enah/Vasp-like (EVL) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SH3 domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables profilin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables profilin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in actin polymerization or depolymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin polymerization or depolymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in animal organ morphogenesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cell surface receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of ruffle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein homotetramerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in focal adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane HDA PubMed 
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ena/VASP-like protein
    Names
    ena/vasodilator-stimulated phosphoprotein-like
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001330221.2 → NP_001317150.1  ena/VASP-like protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in the use of an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus.
      Source sequence(s)
      AL133368, BC023997, CX165372
      Consensus CDS
      CCDS81851.1
      UniProtKB/Swiss-Prot
      A8K105, B7Z3I5, O95884, Q7Z522, Q8TBV1, Q9UF25, Q9UI08, Q9UIC2
      UniProtKB/TrEMBL
      A0A024R6K5
      Related
      ENSP00000384720.2, ENST00000402714.6
      Conserved Domains (2) summary
      cd01207
      Location:5 → 113
      EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
      pfam08776
      Location:378 → 411
      VASP_tetra; VASP tetramerisation domain

    2. NM_016337.3 → NP_057421.1  ena/VASP-like protein isoform 1

      See identical proteins and their annotated locations for NP_057421.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC032358, BQ083568
      Consensus CDS
      CCDS9955.1
      UniProtKB/TrEMBL
      B4DW58
      Related
      ENSP00000376652.3, ENST00000392920.8
      Conserved Domains (2) summary
      cd01207
      Location:7 → 115
      EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
      pfam08776
      Location:380 → 413
      VASP_tetra; VASP tetramerisation domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      99971422..100144236
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431464.1 → XP_047287420.1  ena/VASP-like protein isoform X5

    2. XM_005267749.4 → XP_005267806.1  ena/VASP-like protein isoform X1

      Related
      ENSP00000437904.2, ENST00000544450.6
      Conserved Domains (3) summary
      cd01207
      Location:11 → 119
      EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
      pfam08776
      Location:384 → 417
      VASP_tetra; VASP tetramerization domain
      pfam10265
      Location:283 → 399
      DUF2217; Uncharacterized conserved protein (DUF2217)

    3. XM_047431462.1 → XP_047287418.1  ena/VASP-like protein isoform X3

    4. XM_011536828.3 → XP_011535130.1  ena/VASP-like protein isoform X6

      Conserved Domains (1) summary
      cd01207
      Location:11 → 119
      EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain

    5. XM_047431460.1 → XP_047287416.1  ena/VASP-like protein isoform X2

    6. XM_047431463.1 → XP_047287419.1  ena/VASP-like protein isoform X4

      UniProtKB/TrEMBL
      A0A2D1PGY7

    7. XM_047431465.1 → XP_047287421.1  ena/VASP-like protein isoform X7

    RNA

    1. XR_007064013.1 RNA Sequence

    2. XR_007064014.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      94204463..94377284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376198.1 → XP_054232173.1  ena/VASP-like protein isoform X1

    2. XM_054376200.1 → XP_054232175.1  ena/VASP-like protein isoform X3

    3. XM_054376202.1 → XP_054232177.1  ena/VASP-like protein isoform X6

    4. XM_054376201.1 → XP_054232176.1  ena/VASP-like protein isoform X4

      UniProtKB/TrEMBL
      A0A2D1PGY7

    5. XM_054376199.1 → XP_054232174.1  ena/VASP-like protein isoform X2

    6. XM_054376203.1 → XP_054232178.1  ena/VASP-like protein isoform X7

    RNA

    1. XR_008488872.1 RNA Sequence

    2. XR_008488873.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UI08.2 GenPept UniProtKB/Swiss-Prot:Q9UI08

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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