LOCUS       NM_006576               3087 bp    mRNA    linear   PRI 12-JUN-2024
DEFINITION  Homo sapiens advillin (AVIL), mRNA.
ACCESSION   NM_006576 XM_017018710
VERSION     NM_006576.4
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 3087)
  AUTHORS   Cornelison,R., Marrah,L., Fierti,A., Piczak,C., Glowczyk,M.,
            Tajammal,A., Lynch,S. and Li,H.
  TITLE     The Potential for Targeting AVIL and Other Actin-Binding Proteins
            in Rhabdomyosarcoma
  JOURNAL   Int J Mol Sci 24 (18), 14196 (2023)
   PUBMED   37762498
  REMARK    GeneRIF: The Potential for Targeting AVIL and Other Actin-Binding
            Proteins in Rhabdomyosarcoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3087)
  AUTHORS   Cornelison,R., Marrah,L., Horter,D., Lynch,S. and Li,H.
  TITLE     Targeting AVIL, a New Cytoskeleton Regulator in Glioblastoma
  JOURNAL   Int J Mol Sci 22 (24), 13635 (2021)
   PUBMED   34948433
  REMARK    GeneRIF: Targeting AVIL, a New Cytoskeleton Regulator in
            Glioblastoma.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3087)
  AUTHORS   Xie,Z., Janczyk,P.L., Zhang,Y., Liu,A., Shi,X., Singh,S.,
            Facemire,L., Kubow,K., Li,Z., Jia,Y., Schafer,D., Mandell,J.W.,
            Abounader,R. and Li,H.
  TITLE     A cytoskeleton regulator AVIL drives tumorigenesis in glioblastoma
  JOURNAL   Nat Commun 11 (1), 3457 (2020)
   PUBMED   32651364
  REMARK    GeneRIF: A cytoskeleton regulator AVIL drives tumorigenesis in
            glioblastoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3087)
  AUTHORS   Rao,J., Ashraf,S., Tan,W., van der Ven,A.T., Gee,H.Y., Braun,D.A.,
            Feher,K., George,S.P., Esmaeilniakooshkghazi,A., Choi,W.I.,
            Jobst-Schwan,T., Schneider,R., Schmidt,J.M., Widmeier,E.,
            Warejko,J.K., Hermle,T., Schapiro,D., Lovric,S., Shril,S., Daga,A.,
            Nayir,A., Shenoy,M., Tse,Y., Bald,M., Helmchen,U., Mir,S.,
            Berdeli,A., Kari,J.A., El Desoky,S., Soliman,N.A., Bagga,A.,
            Mane,S., Jairajpuri,M.A., Lifton,R.P., Khurana,S., Martins,J.C. and
            Hildebrandt,F.
  TITLE     Advillin acts upstream of phospholipase C 1 in steroid-resistant
            nephrotic syndrome
  JOURNAL   J Clin Invest 127 (12), 4257-4269 (2017)
   PUBMED   29058690
  REMARK    GeneRIF: podocyte migration rate was increased by overexpression of
            WT Avil or PLCE1, or by EGF stimulation; however, this increased
            PMR was ameliorated by inhibition of the ARP2/3 complex, indicating
            that ARP-dependent lamellipodia formation occurs downstream of AVIL
            and PLCE1 function.
REFERENCE   5  (bases 1 to 3087)
  AUTHORS   Kim,J., Lee,J.E., Heynen-Genel,S., Suyama,E., Ono,K., Lee,K.,
            Ideker,T., Aza-Blanc,P. and Gleeson,J.G.
  TITLE     Functional genomic screen for modulators of ciliogenesis and cilium
            length
  JOURNAL   Nature 464 (7291), 1048-1051 (2010)
   PUBMED   20393563
REFERENCE   6  (bases 1 to 3087)
  AUTHORS   Piana,S., Laio,A., Marinelli,F., Van Troys,M., Bourry,D., Ampe,C.
            and Martins,J.C.
  TITLE     Predicting the effect of a point mutation on a protein fold: the
            villin and advillin headpieces and their Pro62Ala mutants
  JOURNAL   J Mol Biol 375 (2), 460-470 (2008)
   PUBMED   18022635
  REMARK    GeneRIF: Predicting the effect of a point mutation on a protein
            fold: the villin and advillin headpieces and their Pro62Ala
            mutants.
REFERENCE   7  (bases 1 to 3087)
  AUTHORS   Vermeulen,W., Vanhaesebrouck,P., Van Troys,M., Verschueren,M.,
            Fant,F., Goethals,M., Ampe,C., Martins,J.C. and Borremans,F.A.
  TITLE     Solution structures of the C-terminal headpiece subdomains of human
            villin and advillin, evaluation of headpiece F-actin-binding
            requirements
  JOURNAL   Protein Sci 13 (5), 1276-1287 (2004)
   PUBMED   15096633
  REMARK    GeneRIF: NMR structure of the C-terminal headpiece subdomains of
            advillin. Evaluation of F-actin-binding requirements.
REFERENCE   8  (bases 1 to 3087)
  AUTHORS   Tumer,Z., Croucher,P.J., Jensen,L.R., Hampe,J., Hansen,C.,
            Kalscheuer,V., Ropers,H.H., Tommerup,N. and Schreiber,S.
  TITLE     Genomic structure, chromosome mapping and expression analysis of
            the human AVIL gene, and its exclusion as a candidate for locus for
            inflammatory bowel disease at 12q13-14 (IBD2)
  JOURNAL   Gene 288 (1-2), 179-185 (2002)
   PUBMED   12034507
REFERENCE   9  (bases 1 to 3087)
  AUTHORS   Takami,M., Herrera,R. and Petruzzelli,L.
  TITLE     Mac-1-dependent tyrosine phosphorylation during neutrophil adhesion
  JOURNAL   Am J Physiol Cell Physiol 280 (5), C1045-C1056 (2001)
   PUBMED   11287316
REFERENCE   10 (bases 1 to 3087)
  AUTHORS   Marks,P.W., Arai,M., Bandura,J.L. and Kwiatkowski,D.J.
  TITLE     Advillin (p92): a new member of the gelsolin/villin family of actin
            regulatory proteins
  JOURNAL   J Cell Sci 111 (Pt 15), 2129-2136 (1998)
   PUBMED   9664034
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC121759.9 and AC025165.27.
            
            On or before Mar 29, 2021 this sequence version replaced
            XM_017018710.2, NM_006576.3.
            
            Summary: The protein encoded by this gene is a member of the
            gelsolin/villin family of actin regulatory proteins. This protein
            has structural similarity to villin. It binds actin and may play a
            role in the development of neuronal cells that form ganglia.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853564.6975.1,
                                           SRR11853558.5543.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000549994.2/ ENSP00000449239.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-106               AC121759.9         11191-11296
            107-191             AC025165.27        209894-209978       c
            192-266             AC025165.27        208071-208145       c
            267-463             AC025165.27        207146-207342       c
            464-572             AC025165.27        204938-205046       c
            573-683             AC025165.27        204735-204845       c
            684-886             AC025165.27        204268-204470       c
            887-965             AC025165.27        203731-203809       c
            966-1064            AC025165.27        203516-203614       c
            1065-1218           AC025165.27        202314-202467       c
            1219-1319           AC025165.27        202113-202213       c
            1320-1457           AC025165.27        201509-201646       c
            1458-1616           AC025165.27        201250-201408       c
            1617-1796           AC025165.27        200279-200458       c
            1797-1942           AC025165.27        197443-197588       c
            1943-2087           AC025165.27        197166-197310       c
            2088-2276           AC025165.27        196079-196267       c
            2277-2345           AC025165.27        195063-195131       c
            2346-2471           AC025165.27        193714-193839       c
            2472-3087           AC025165.27        191299-191914       c
FEATURES             Location/Qualifiers
     source          1..3087
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1"
     gene            1..3087
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /note="advillin"
                     /db_xref="GeneID:10677"
                     /db_xref="HGNC:HGNC:14188"
                     /db_xref="MIM:613397"
     exon            1..106
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            107..191
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..2585
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /codon_start=1
                     /product="advillin"
                     /protein_id="NP_006567.3"
                     /db_xref="CCDS:CCDS8959.1"
                     /db_xref="GeneID:10677"
                     /db_xref="HGNC:HGNC:14188"
                     /db_xref="MIM:613397"
                     /translation="MPLTSAFRAVDNDPGIIVWRIEKMELALVPVSAHGNFYEGDCYV
                     ILSTRRVASLLSQDIHFWIGKDSSQDEQSCAAIYTTQLDDYLGGSPVQHREVQYHESD
                     TFRGYFKQGIIYKQGGVASGMKHVETNTYDVKRLLHVKGKRNIRATEVEMSWDSFNRG
                     DVFLLDLGKVIIQWNGPESNSGERLKAMLLAKDIRDRERGGRAKIGVIEGDKEAASPE
                     LMKVLQDTLGRRSIIKPTVPDEIIDQKQKSTIMLYHISDSAGQLAVTEVATRPLVQDL
                     LNHDDCYILDQSGTKIYVWKGKGATKAEKQAAMSKALGFIKMKSYPSSTNVETVNDGA
                     ESAMFKQLFQKWSVKDQTMGLGKTFSIGKIAKVFQDKFDVTLLHTKPEVAAQERMVDD
                     GNGKVEVWRIENLELVPVEYQWYGFFYGGDCYLVLYTYEVNGKPHHILYIWQGRHASQ
                     DELAASAYQAVEVDRQFDGAAVQVRVRMGTEPRHFMAIFKGKLVIFEGGTSRKGNAEP
                     DPPVRLFQIHGNDKSNTKAVEVPAFASSLNSNDVFLLRTQAEHYLWYGKGSSGDERAM
                     AKELASLLCDGSENTVAEGQEPAEFWDLLGGKTPYANDKRLQQEILDVQSRLFECSNK
                     TGQFVVTEITDFTQDDLNPTDVMLLDTWDQVFLWIGAEANATEKESALATAQQYLHTH
                     PSGRDPDTPILIIKQGFEPPIFTGWFLAWDPNIWSAGKTYEQLKEELGDAAAIMRITA
                     DMKNATLSLNSNDSEPKYYPIAVLLKNQNQELPEDVNPAKKENYLSEQDFVSVFGITR
                     GQFAALPGWKQLQMKKEKGLF"
     exon            192..266
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            267..463
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            464..572
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            573..683
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            684..886
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            887..965
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1064
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1218
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1319
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..1457
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            1458..1616
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            1617..1796
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            1797..1942
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            1943..2087
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            2088..2276
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            2277..2345
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            2346..2471
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     exon            2472..3087
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3067..3072
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /note="hexamer: AATAAA"
     polyA_site      3087
                     /gene="AVIL"
                     /gene_synonym="ADVIL; DOC6; NPHS21; p92"
                     /note="major polyA site"
ORIGIN      
        1 aagctaaggc agcaggacct ggagcctcct gctttggagt ggttcttcaa tactgctgct
       61 gcttacgcgc cgggaaactg ggaaggctgg tgagcgagaa ggcaagtcct ggaaagacaa
      121 gcatcatgcc tctgaccagt gccttcaggg ctgtggacaa cgaccctggg atcattgtct
      181 ggagaataga gaaaatggag ctggcgctgg tgcctgtgag cgcccacggc aacttctatg
      241 agggggactg ctacgtcatc ctctcgaccc ggagagtggc cagtctccta tcccaggaca
      301 tccacttctg gatcgggaag gactcctccc aggatgagca aagctgcgca gccatatata
      361 ccacacagct ggacgactac ctgggaggca gccctgtgca gcaccgagag gtccagtacc
      421 atgagtcaga cactttccgt ggctacttca agcagggcat catctacaag caggggggtg
      481 tcgcctctgg gatgaagcac gtggagacca atacctacga cgtgaagcgg ctgctacatg
      541 tgaaagggaa aagaaacatc agggctaccg aggtggaaat gagctgggac agtttcaacc
      601 gaggtgatgt cttcttgctg gaccttggga aagtcatcat ccaatggaat ggcccagaga
      661 gcaacagtgg ggagcgcctg aaggctatgc ttctggcaaa ggatattcga gacagggagc
      721 gagggggccg tgctaaaata ggagtgatcg agggagacaa ggaggcagcc agcccagagc
      781 tgatgaaggt ccttcaggac acccttggcc gacgctccat tatcaagcct acagtccctg
      841 atgagatcat agatcagaag cagaaatcaa ctatcatgtt gtatcatatc tcagattcag
      901 ctgggcagct ggcagtcaca gaggtagcaa caaggcctct ggtccaggac ttactgaacc
      961 atgatgactg ctacatcctg gaccaaagtg gaaccaaaat ctacgtgtgg aaaggaaaag
     1021 gagccacaaa ggctgaaaaa caggcagcca tgtctaaagc gctgggcttc atcaagatga
     1081 agagctaccc cagcagcacc aatgtggaga ccgtcaacga tggtgctgag tcggccatgt
     1141 tcaagcagct gttccagaag tggtcagtaa aggaccagac catgggcctg gggaaaacgt
     1201 tcagcattgg taaaattgct aaagttttcc aggataaatt tgatgtgact ctgctacaca
     1261 ccaagccaga ggtagctgcc caggaaagaa tggtcgatga tggcaacgga aaagttgagg
     1321 tctggagaat tgagaacctg gagctggtcc ctgtggagta tcaatggtat ggcttctttt
     1381 atgggggaga ctgttatctg gtcctctaca catacgaggt aaatgggaag ccacatcaca
     1441 tcttgtacat ctggcagggc cgccacgcct cacaggatga gctggcagcc tcagcatacc
     1501 aggcagtgga ggtggatcgg cagtttgatg gggctgctgt gcaggttcga gtcaggatgg
     1561 gaacggagcc acgccacttc atggccatct tcaaagggaa gctagttatc tttgagggtg
     1621 ggacttccag gaagggaaat gccgagcctg accctccagt aagactcttc caaattcatg
     1681 gaaatgacaa atctaacacc aaagcagtgg aagttccagc ctttgcctcc tccctaaact
     1741 ccaatgatgt ctttctgctg cgaactcagg cagagcacta cctgtggtat ggcaaggggt
     1801 ctagtgggga tgagcgggca atggctaagg agctggccag ccttctctgt gatggcagcg
     1861 agaacactgt ggccgagggc caggagccag ccgagttctg ggacctactg ggagggaaaa
     1921 ctccctatgc caatgataaa agacttcagc aggaaatcct agatgtccag tctcgtctct
     1981 ttgaatgttc caataagacc ggccaattcg ttgtcactga gatcacagac ttcacccagg
     2041 atgacctgaa ccctactgac gtgatgctcc tagatacctg ggaccaggtg ttcttgtgga
     2101 ttggggctga ggccaatgcc acggagaagg agagtgccct tgccacagca cagcagtacc
     2161 tgcacactca ccccagcggc cgagatcccg acacaccaat cctgatcatt aagcaggggt
     2221 ttgagcctcc catcttcaca ggctggttcc tagcctggga ccctaacatt tggagtgcag
     2281 gaaaaacata tgaacaatta aaagaagagc tgggagatgc tgctgctatc atgcgaatca
     2341 ctgctgacat gaagaatgca accctctccc tgaattctaa tgacagtgag ccaaaatatt
     2401 accctatagc agttctgttg aaaaaccaga atcaggagct gcctgaggat gtaaaccctg
     2461 ccaaaaagga gaattacctc tctgaacagg actttgtgtc tgtgtttggc atcacaagag
     2521 ggcaatttgc agctctgcct ggctggaaac agctccaaat gaagaaagaa aaggggcttt
     2581 tctaaagcaa gaaggcctat acctattgca aggccacaga aaagagcaga tagtgccaat
     2641 atcaggaaat aatttatcca ccaatttctg cctgacattc agctacttaa tttagatata
     2701 atagagtctg caaatcacgg catgttctcc attttttctc atccttgcat tccttgcttg
     2761 ttatatacct aaaatgttaa ccatatagtt tttgggtttt gtggccctct agctaaagcc
     2821 tcagcagaaa gcactaaaac tgcataaatc tggagaaatc aaaagaaaga gaaccaaaaa
     2881 acaatgctta aaatgtttaa taactttatg tttaatatta taccaggacc tacctttgtt
     2941 ttcaatttta agatgattat ttctaaaatc tatttagcct gtaaatcatt gaaatcatat
     3001 atgcactcca taggcaaaat ccaaataccc agatctgtaa tgtgtcaaag catttttcac
     3061 ttttcaaata aagataccta taatgaa
//
