LOCUS       NM_016337               1834 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens Enah/Vasp-like (EVL), transcript variant 1, mRNA.
ACCESSION   NM_016337
VERSION     NM_016337.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1834)
  AUTHORS   Yu,M., Carter,K.T., Baker,K.K., Redman,M.W., Wang,T., Vickers,K.,
            Li,C.I., Cohen,S.A., Krane,M., Ose,J., Gigic,B., Figueiredo,J.C.,
            Toriola,A.T., Siegel,E.M., Shibata,D., Schneider,M., Ulrich,C.M.,
            Dzubinski,L.A., Schoen,R.E. and Grady,W.M.
  TITLE     Elevated EVL Methylation Level in the Normal Colon Mucosa Is a
            Potential Risk Biomarker for Developing Recurrent Adenomas
  JOURNAL   Cancer Epidemiol Biomarkers Prev 32 (9), 1146-1152 (2023)
   PUBMED   37294695
  REMARK    GeneRIF: Elevated EVL Methylation Level in the Normal Colon Mucosa
            Is a Potential Risk Biomarker for Developing Recurrent Adenomas.
REFERENCE   2  (bases 1 to 1834)
  AUTHORS   Duggan,C., Yu,M., Willbanks,A.R., Tapsoba,J.D., Wang,C.Y.,
            Grady,W.M. and McTiernan,A.
  TITLE     Exercise effects on DNA methylation in EVL, CDKN2A (p14, ARF), and
            ESR1 in colon tissue from healthy men and women
  JOURNAL   Epigenetics 17 (10), 1070-1079 (2022)
   PUBMED   34550860
  REMARK    GeneRIF: Exercise effects on DNA methylation in EVL, CDKN2A (p14,
            ARF), and ESR1 in colon tissue from healthy men and women.
REFERENCE   3  (bases 1 to 1834)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1834)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1834)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 1834)
  AUTHORS   Lambrechts,A., Kwiatkowski,A.V., Lanier,L.M., Bear,J.E.,
            Vandekerckhove,J., Ampe,C. and Gertler,F.B.
  TITLE     cAMP-dependent protein kinase phosphorylation of EVL, a Mena/VASP
            relative, regulates its interaction with actin and SH3 domains
  JOURNAL   J Biol Chem 275 (46), 36143-36151 (2000)
   PUBMED   10945997
REFERENCE   7  (bases 1 to 1834)
  AUTHORS   Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
            Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
            Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
            Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
            Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   8  (bases 1 to 1834)
  AUTHORS   Bashaw,G.J., Kidd,T., Murray,D., Pawson,T. and Goodman,C.S.
  TITLE     Repulsive axon guidance: Abelson and Enabled play opposing roles
            downstream of the roundabout receptor
  JOURNAL   Cell 101 (7), 703-715 (2000)
   PUBMED   10892742
REFERENCE   9  (bases 1 to 1834)
  AUTHORS   Krause,M., Sechi,A.S., Konradt,M., Monner,D., Gertler,F.B. and
            Wehland,J.
  TITLE     Fyn-binding protein (Fyb)/SLP-76-associated protein (SLAP),
            Ena/vasodilator-stimulated phosphoprotein (VASP) proteins and the
            Arp2/3 complex link T cell receptor (TCR) signaling to the actin
            cytoskeleton
  JOURNAL   J Cell Biol 149 (1), 181-194 (2000)
   PUBMED   10747096
REFERENCE   10 (bases 1 to 1834)
  AUTHORS   Ohta,S., Mineta,T., Kimoto,M. and Tabuchi,K.
  TITLE     Differential display cloning of a novel rat cDNA (RNB6) that shows
            high expression in the neonatal brain revealed a member of Ena/VASP
            family
  JOURNAL   Biochem Biophys Res Commun 237 (2), 307-312 (1997)
   PUBMED   9268706
  REMARK    Erratum:[Biochem Biophys Res Commun 1997 Dec 18;241(2):611]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BQ083568.1 and BC032358.1.
            
            On Nov 22, 2018 this sequence version replaced NM_016337.2.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.308210.1,
                                           SRR3476690.985016.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392920.8/ ENSP00000376652.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-501               BQ083568.1         9-509
            502-1834            BC032358.1         481-1813
FEATURES             Location/Qualifiers
     source          1..1834
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.2"
     gene            1..1834
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /note="Enah/Vasp-like"
                     /db_xref="GeneID:51466"
                     /db_xref="HGNC:HGNC:20234"
                     /db_xref="MIM:616912"
     exon            1..90
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..1336
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ena/VASP-like protein; ena/vasodilator-stimulated
                     phosphoprotein-like; epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="ena/VASP-like protein isoform 1"
                     /protein_id="NP_057421.1"
                     /db_xref="CCDS:CCDS9955.1"
                     /db_xref="GeneID:51466"
                     /db_xref="HGNC:HGNC:20234"
                     /db_xref="MIM:616912"
                     /translation="MATSEQSICQARASVMVYDDTSKKWVPIKPGQQGFSRINIYHNT
                     ASNTFRVVGVKLQDQQVVINYSIVKGLKYNQATPTFHQWRDARQVYGLNFASKEEATT
                     FSNAMLFALNIMNSQEGGPSSQRQVQNGPSPDEMDIQRRQVMEQHQQQRQESLERRTS
                     ATGPILPPGHPSSAASAPVSCSGPPPPPPPPVPPPPTGATPPPPPPLPAGGAQGSSHD
                     ESSMSGLAAAIAGAKLRRVQRPEDASGGSSPSGTSKSDANRASSGGGGGGLMEEMNKL
                     LAKRRKAASQSDKPAEKKEDESQMEDPSTSPSPGTRAASQPPNSSEAGRKPWERSNSV
                     EKPVSSILSRTPSVAKSPEAKSPLQSQPHSRMKPAGSVNDMALDAFDLDRMKQEILEE
                     VVRELHKVKEEIIDAIRQELSGISTT"
     exon            91..259
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            260..437
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            438..501
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            502..566
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            567..796
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            797..918
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            919..979
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            980..1043
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            1044..1110
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            1111..1173
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1240
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1298
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1834
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1813..1818
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /note="hexamer: AATAAA"
     polyA_site      1834
                     /gene="EVL"
                     /gene_synonym="RNB6"
                     /note="major polyA site"
ORIGIN      
        1 gtggtcctct gatcaacata ggctggtggg agtacaggac tcgcctcctc agggttccct
       61 gtgctgccac ttttcagcca tggccacaag tgaacagagt atctgccaag cccgggcttc
      121 cgtgatggtc tacgatgaca ccagtaagaa atgggtacca atcaaacctg gccagcaggg
      181 attcagccgg atcaacatct accacaacac tgccagcaac accttcagag tcgttggagt
      241 caagttgcag gatcagcagg ttgtgatcaa ttattcaatc gtgaaagggc tgaagtacaa
      301 tcaggccacg ccaaccttcc accagtggcg agatgcccgc caggtctacg gcttaaactt
      361 tgcaagtaaa gaagaggcaa ccacgttctc caatgcaatg ctgtttgccc tgaacatcat
      421 gaattcccaa gaaggaggcc cctccagcca gcgtcaggtg cagaatggcc cctctcctga
      481 tgagatggac atccagagaa gacaagtgat ggagcagcac cagcagcagc gtcaggaatc
      541 tctagaaaga agaacctcgg ccacagggcc catcctccca ccaggacatc cttcatctgc
      601 agccagcgcc cccgtctcat gtagtgggcc tccaccgccc cccccacccc cagtcccacc
      661 tccacccact ggggctaccc cacctccccc acccccactg ccagccggag gagcccaggg
      721 gtccagccac gacgagagct ccatgtcagg actggccgct gccatagctg gggccaagct
      781 gagaagagtc caacggccag aagacgcatc tggaggctcc agtcccagtg ggacctcaaa
      841 gtccgatgcc aaccgggcaa gcagcggggg tggcggagga ggcctcatgg aggaaatgaa
      901 caaactgctg gccaagagga gaaaagcagc ctcccagtca gacaagccag ccgagaagaa
      961 ggaagatgaa agccaaatgg aagatcctag tacctccccc tctccgggga cccgagcagc
     1021 cagccagcca cctaactcct cagaggctgg ccggaagccc tgggagcgga gcaactcggt
     1081 ggagaagcct gtgtcctcga ttctgtccag aaccccgtct gtggcaaaga gccccgaagc
     1141 taagagcccc cttcagtcgc agcctcactc taggatgaag cctgctggga gcgtgaatga
     1201 catggccctg gatgccttcg acttggaccg gatgaagcag gagatcctag aggaggtggt
     1261 gagagagctc cacaaggtga aggaggagat catcgacgcc atcaggcagg agctgagtgg
     1321 gatcagcacc acgtaagggg ccggcctcgc tgcgctgatt cgtcgagccc atccggcgac
     1381 agaggacagc cagaagccca gccagcccca gactccagtg caccagagca cgcacaggag
     1441 cctgggcgcg ctgctgtgaa acgtcctgac ctgtgatcac acatgacagt gaggaaacca
     1501 agtgcaactc ctgggttttt ttagattctg cctgacacgg aacaccaggt ctgctcgtct
     1561 tttttgtgtt ttatatttgc ttatttaagg tacatttctt tgggtttcta gagacgcccc
     1621 taagtcacct gcttcattag acggtttcca ggttttctcc caggtgacgc tgttagcgcc
     1681 tcagctggcg gtgacagccg gcccagcgtg gcgccaccac acaccgcaga gctgtccagg
     1741 cacagctccg tccccagcgc tcatggtgtt gaaactgtct gtcatgcacc acggtgtctg
     1801 tgtccacaca gtaataaacg gtttactgtc cgca
//
