LOCUS       NM_001111077            3052 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens ezrin (EZR), transcript variant 2, mRNA.
ACCESSION   NM_001111077
VERSION     NM_001111077.2
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 3052)
  AUTHORS   Zhou,N., He,M., Zhou,G., Fan,Q. and Qi,Y.
  TITLE     Variant in EZR leads to defects in lens development
  JOURNAL   Ophthalmic Genet 45 (4), 363-371 (2024)
   PUBMED   38563525
  REMARK    GeneRIF: Variant in EZR leads to defects in lens development.
REFERENCE   2  (bases 1 to 3052)
  AUTHORS   Lou,J., Jin,M., Zhou,C., Fan,Y., Ni,L., Mao,Y., Shen,H., Li,J.,
            Zhang,H., Fu,C., Mao,X., Chen,Y., Zhong,J., Zhou,K., Wang,L. and
            Wu,J.
  TITLE     Ezrin inhibition alleviates oxidative stress and pyroptosis via
            regulating TRPML1-calcineurin axis mediated enhancement of
            autophagy in spinal cord injury
  JOURNAL   Free Radic Biol Med 212, 133-148 (2024)
   PUBMED   38142951
  REMARK    GeneRIF: Ezrin inhibition alleviates oxidative stress and
            pyroptosis via regulating TRPML1-calcineurin axis mediated
            enhancement of autophagy in spinal cord injury.
REFERENCE   3  (bases 1 to 3052)
  AUTHORS   Deng,D.X., Li,C.Y., Zheng,Z.Y., Wen,B., Liao,L.D., Zhang,X.J.,
            Li,E.M. and Xu,L.Y.
  TITLE     Prenylated PALM2 Promotes the Migration of Esophageal Squamous Cell
            Carcinoma Cells Through Activating Ezrin
  JOURNAL   Mol Cell Proteomics 22 (8), 100593 (2023)
   PUBMED   37328063
  REMARK    GeneRIF: Prenylated PALM2 Promotes the Migration of Esophageal
            Squamous Cell Carcinoma Cells Through Activating Ezrin.
REFERENCE   4  (bases 1 to 3052)
  AUTHORS   Buenaventura,R.G.M., Merlino,G. and Yu,Y.
  TITLE     Ez-Metastasizing: The Crucial Roles of Ezrin in Metastasis
  JOURNAL   Cells 12 (12), 1620 (2023)
   PUBMED   37371090
  REMARK    GeneRIF: Ez-Metastasizing: The Crucial Roles of Ezrin in
            Metastasis.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3052)
  AUTHORS   Xiao,G., Cheng,F., Yuan,J., Lu,W., Wang,P. and Fan,H.
  TITLE     Integrative multiomics analysis identifies a metastasis-related
            gene signature and the potential oncogenic role of EZR in breast
            cancer
  JOURNAL   Oncol Res 30 (1), 35-51 (2022)
   PUBMED   37304008
  REMARK    GeneRIF: Integrative multiomics analysis identifies a
            metastasis-related gene signature and the potential oncogenic role
            of EZR in breast cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3052)
  AUTHORS   Krieg,J. and Hunter,T.
  TITLE     Identification of the two major epidermal growth factor-induced
            tyrosine phosphorylation sites in the microvillar core protein
            ezrin
  JOURNAL   J Biol Chem 267 (27), 19258-19265 (1992)
   PUBMED   1382070
REFERENCE   7  (bases 1 to 3052)
  AUTHORS   Egerton,M., Burgess,W.H., Chen,D., Druker,B.J., Bretscher,A. and
            Samelson,L.E.
  TITLE     Identification of ezrin as an 81-kDa tyrosine-phosphorylated
            protein in T cells
  JOURNAL   J Immunol 149 (6), 1847-1852 (1992)
   PUBMED   1381389
REFERENCE   8  (bases 1 to 3052)
  AUTHORS   Lankes,W.T. and Furthmayr,H.
  TITLE     Moesin: a member of the protein 4.1-talin-ezrin family of proteins
  JOURNAL   Proc Natl Acad Sci U S A 88 (19), 8297-8301 (1991)
   PUBMED   1924289
REFERENCE   9  (bases 1 to 3052)
  AUTHORS   Gould,K.L., Bretscher,A., Esch,F.S. and Hunter,T.
  TITLE     cDNA cloning and sequencing of the protein-tyrosine kinase
            substrate, ezrin, reveals homology to band 4.1
  JOURNAL   EMBO J 8 (13), 4133-4142 (1989)
   PUBMED   2591371
REFERENCE   10 (bases 1 to 3052)
  AUTHORS   Pakkanen,R. and Vaheri,A.
  TITLE     Cytovillin and other microvillar proteins of human choriocarcinoma
            cells
  JOURNAL   J Cell Biochem 41 (1), 1-12 (1989)
   PUBMED   2592436
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA754543.1 and BC013903.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001111077.1.
            
            Summary: The cytoplasmic peripheral membrane protein encoded by
            this gene functions as a protein-tyrosine kinase substrate in
            microvilli. As a member of the ERM protein family, this protein
            serves as an intermediate between the plasma membrane and the actin
            cytoskeleton. This protein plays a key role in cell surface
            structure adhesion, migration and organization, and it has been
            implicated in various human cancers. A pseudogene located on
            chromosome 3 has been identified for this gene. Alternatively
            spliced variants have also been described for this gene. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            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 :: SRR1803611.119614.1,
                                           SRR1803614.29937.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154405, SAMEA2467150
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367075.4/ ENSP00000356042.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-433               DA754543.1         57-489
            434-3052            BC013903.2         441-3059
FEATURES             Location/Qualifiers
     source          1..3052
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.3"
     gene            1..3052
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /note="ezrin"
                     /db_xref="GeneID:7430"
                     /db_xref="HGNC:HGNC:12691"
                     /db_xref="MIM:123900"
     exon            1..52
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     exon            53..137
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..1886
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /note="cytovillin 2; villin 2 (ezrin); p81; epididymis
                     secretory protein Li 105"
                     /codon_start=1
                     /product="ezrin"
                     /protein_id="NP_001104547.1"
                     /db_xref="CCDS:CCDS5258.1"
                     /db_xref="GeneID:7430"
                     /db_xref="HGNC:HGNC:12691"
                     /db_xref="MIM:123900"
                     /translation="MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWY
                     FGLHYVDNKGFPTWLKLDKKVSAQEVRKENPLQFKFRAKFYPEDVAEELIQDITQKLF
                     FLQVKEGILSDEIYCPPETAVLLGSYAVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQ
                     HKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYLKIAQDLEMYGINYFEIKNKKGTDLWL
                     GVDALGLNIYEKDDKLTPKIGFPWSEIRNISFNDKKFVIKPIDKKAPDFVFYAPRLRI
                     NKRILQLCMGNHELYMRRRKPDTIEVQQMKAQAREEKHQKQLERQQLETEKKRRETVE
                     REKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQEEAERLEAD
                     RMAALRAKEELERQAVDQIKSQEQLAAELAEYTAKIALLEEARRRKEDEVEEWQHRAK
                     EAQDDLVKTKEELHLVMTAPPPPPPPVYEPVSYHVQESLQDEGAEPTGYSAELSSEGI
                     RDDRNEEKRITEAEKNERVQRQLLTLSSELSQARDENKRTHNDIIHNENMRQGRDKYK
                     TLRQIRQGNTKQRIDEFEAL"
     exon            138..221
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     exon            222..317
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     exon            318..592
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     exon            593..676
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     exon            677..823
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     exon            824..920
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1084
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1215
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1216..1376
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1377..1469
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1470..1721
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1722..3052
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3032..3037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /note="hexamer: AATAAA"
     polyA_site      3052
                     /gene="EZR"
                     /gene_synonym="CVIL; CVL; HEL-S-105; VIL2"
                     /note="major polyA site"
ORIGIN      
        1 actcggcgga cgcaagggcg gcggggagca cacggagcac tgcaggcgcc gggttgggac
       61 agcgtcttcg ctgctgctgg atagtcgtgt tttcggggat cgaggatact caccagaaac
      121 cgaaaatgcc gaaaccaatc aatgtccgag ttaccaccat ggatgcagag ctggagtttg
      181 caatccagcc aaatacaact ggaaaacagc tttttgatca ggtggtaaag actatcggcc
      241 tccgggaagt gtggtacttt ggcctccact atgtggataa taaaggattt cctacctggc
      301 tgaagctgga taagaaggtg tctgcccagg aggtcaggaa ggagaatccc ctccagttca
      361 agttccgggc caagttctac cctgaagatg tggctgagga gctcatccag gacatcaccc
      421 agaaactttt cttcctccaa gtgaaggaag gaatccttag cgatgagatc tactgccccc
      481 ctgagactgc cgtgctcttg gggtcctacg ctgtgcaggc caagtttggg gactacaaca
      541 aagaagtgca caagtctggg tacctcagct ctgagcggct gatccctcaa agagtgatgg
      601 accagcacaa acttaccagg gaccagtggg aggaccggat ccaggtgtgg catgcggaac
      661 accgtgggat gctcaaagat aatgctatgt tggaatacct gaagattgct caggacctgg
      721 aaatgtatgg aatcaactat ttcgagataa aaaacaagaa aggaacagac ctttggcttg
      781 gagttgatgc ccttggactg aatatttatg agaaagatga taagttaacc ccaaagattg
      841 gctttccttg gagtgaaatc aggaacatct ctttcaatga caaaaagttt gtcattaaac
      901 ccatcgacaa gaaggcacct gactttgtgt tttatgcccc acgtctgaga atcaacaagc
      961 ggatcctgca gctctgcatg ggcaaccatg agttgtatat gcgccgcagg aagcctgaca
     1021 ccatcgaggt gcagcagatg aaggcccagg cccgggagga gaagcatcag aagcagctgg
     1081 agcggcaaca gctggaaaca gagaagaaaa ggagagaaac cgtggagaga gagaaagagc
     1141 agatgatgcg cgagaaggag gagttgatgc tgcggctgca ggactatgag gagaagacaa
     1201 agaaggcaga gagagagctc tcggagcaga ttcagagggc cctgcagctg gaggaggaga
     1261 ggaagcgggc acaggaggag gccgagcgcc tagaggctga ccgtatggct gcactgcggg
     1321 ctaaggagga gctggagaga caggcggtgg atcagataaa gagccaggag cagctggctg
     1381 cggagcttgc agaatacact gccaagattg ccctcctgga agaggcgcgg aggcgcaagg
     1441 aggatgaagt tgaagagtgg cagcacaggg ccaaagaagc ccaggatgac ctggtgaaga
     1501 ccaaggagga gctgcacctg gtgatgacag cacccccgcc cccaccaccc cccgtgtacg
     1561 agccggtgag ctaccatgtc caggagagct tgcaggatga gggcgcagag cccacgggct
     1621 acagcgcgga gctgtctagt gagggcatcc gggatgaccg caatgaggag aagcgcatca
     1681 ctgaggcaga gaagaacgag cgtgtgcagc ggcagctgct gacgctgagc agcgagctgt
     1741 cccaggcccg agatgagaat aagaggaccc acaatgacat catccacaac gagaacatga
     1801 ggcaaggccg ggacaagtac aagacgctgc ggcagatccg gcagggcaac accaagcagc
     1861 gcatcgacga gttcgaggcc ctgtaacagc caggccagga ccaagggcag aggggtgctc
     1921 atagcgggcg ctgccagccc cgccacgctt gtgtctttag tgctccaagt ctaggaactc
     1981 cctcagatcc cagttccttt agaaagcagt tacccaacag aaacattctg ggctgggaac
     2041 cagggaggcg ccctggtttg ttttccccag ttgtaatagt gccaagcagg cctgattctc
     2101 gcgattattc tcgaatcacc tcctgtgttg tgctgggagc aggactgatt gaattacgga
     2161 aaatgcctgt aaagtctgag taagaaactt catgctggcc tgtgtgatac aagagtcagc
     2221 atcattaaag gaaacgtggc aggacttcca tctgtgccat acttgttctg tattcgaaat
     2281 gagctcaaat tgatttttta atttctatga aggatccatc tttgtatatt tacatgctta
     2341 gaggggtgaa aattattttg gaaattgagt ctgaagcact ctcgcacaca cagtgattcc
     2401 ctcctcccgt cactccacgc agctggcaga gagcacagtg atcaccagcg tgagtggtgg
     2461 aggaggacac ttggattttt ttttttgttt tttttttttt tgcttaacag ttttagaata
     2521 cattgtactt atacacctta ttaatgatca gctatatact atttatatac aagtgataat
     2581 acagatttgt aacattagtt ttaaaaaggg aaagttttgt tctgtatatt ttgttacctt
     2641 ttacagaata aaagaattac atatgaaaaa ccctctaaac catggcactt gatgtgatgt
     2701 ggcaggaggg cagtggtgga gctggacctg cctgctgcag tcacgtgtaa acaggattat
     2761 tattagtgtt ttatgcatgt aatggactat gcacactttt aattttgtca gattcacaca
     2821 tgccactatg agctttcaga ctccagctgt gaagagactc tgtttgcttg tgtttgtttg
     2881 tttgcagtct ctctctgcca tggccttggc aggctgctgg aaggcagctt gtggaggccg
     2941 ttggttccgc ccactcattc cttctcgtgc actgctttct ccttcacagc taagatgcca
     3001 tgtgcaggtg gattccatgc cgcagacatg aaataaaagc tttgcaaagg ca
//
