LOCUS       NM_031475               3543 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens espin (ESPN), transcript variant 1, mRNA.
ACCESSION   NM_031475
VERSION     NM_031475.3
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 3543)
  AUTHORS   Wang,L., Wei,B., Fu,X., Wang,Y., Sui,Y., Ma,J., Gong,X., Hao,J. and
            Xing,S.
  TITLE     Identification of whirlin domains interacting with espin: A study
            of the mechanism of Usher syndrome type II
  JOURNAL   Mol Med Rep 20 (6), 5111-5117 (2019)
   PUBMED   31638198
  REMARK    GeneRIF: whirlin-espin interaction is important for the
            architecture of the USH2 complex and actin bundles cross-linked by
            espin. Our demonstration of whirlin N-terminal fragment interaction
            with espin, is significantly novel, providing insight into how
            these two proteins interact to form the USH2 complex.
REFERENCE   2  (bases 1 to 3543)
  AUTHORS   Ahmed,Z.M., Jaworek,T.J., Sarangdhar,G.N., Zheng,L., Gul,K.,
            Khan,S.N., Friedman,T.B., Sisk,R.A., Bartles,J.R., Riazuddin,S. and
            Riazuddin,S.
  TITLE     Inframe deletion of human ESPN is associated with deafness,
            vestibulopathy and vision impairment
  JOURNAL   J Med Genet 55 (7), 479-488 (2018)
   PUBMED   29572253
  REMARK    GeneRIF: ur study uncovers an additional USH gene, assigns the USH1
            phenotype to a variant of ESPN and provides a 12th molecular
            component to the USH proteome
REFERENCE   3  (bases 1 to 3543)
  AUTHORS   Zhu,Y., Zhang,H.L., Wang,Q.Y., Chen,M.J. and Liu,L.B.
  TITLE     Overexpression of microRNA-612 Restrains the Growth, Invasion, and
            Tumorigenesis of Melanoma Cells by Targeting Espin
  JOURNAL   Mol Cells 41 (2), 119-126 (2018)
   PUBMED   29385671
  REMARK    GeneRIF: A significant inverse correlation was observed between
            miR-612 and Espin protein expression in melanoma tissues.
REFERENCE   4  (bases 1 to 3543)
  AUTHORS   Taura,A., Taura,K., Koyama,Y., Yamamoto,N., Nakagawa,T., Ito,J. and
            Ryan,A.F.
  TITLE     Hair cell stereociliary bundle regeneration by espin gene
            transduction after aminoglycoside damage and hair cell induction by
            Notch inhibition
  JOURNAL   Gene Ther 23 (5), 415-423 (2016)
   PUBMED   26886463
  REMARK    GeneRIF: The utricles were then treated with a gamma-secretase
            inhibitor, followed by espin or control transduction and
            histochemistry. Although gamma-secretase inhibition increased the
            number of HCs, few had stereociliary arrays. In contrast, 46 h
            after espin1 transduction, a significant increase in
            hair-bundle-like structures was observed
REFERENCE   5  (bases 1 to 3543)
  AUTHORS   Liu,H., Li,J., Raval,M.H., Yao,N., Deng,X., Lu,Q., Nie,S., Feng,W.,
            Wan,J., Yengo,C.M., Liu,W. and Zhang,M.
  TITLE     Myosin III-mediated cross-linking and stimulation of actin bundling
            activity of Espin
  JOURNAL   Elife 5, e12856 (2016)
   PUBMED   26785147
  REMARK    GeneRIF: The structures of Myo3 in complex with Espin1 not only
            elucidate the mechanism of the binding, but also reveal a
            Myo3-induced release of Espin1 auto-inhibition mechanism.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3543)
  AUTHORS   Sekerkova,G., Loomis,P.A., Changyaleket,B., Zheng,L., Eytan,R.,
            Chen,B., Mugnaini,E. and Bartles,J.R.
  TITLE     Novel espin actin-bundling proteins are localized to Purkinje cell
            dendritic spines and bind the Src homology 3 adapter protein
            insulin receptor substrate p53
  JOURNAL   J Neurosci 23 (4), 1310-1319 (2003)
   PUBMED   12598619
REFERENCE   7  (bases 1 to 3543)
  AUTHORS   Zheng,L., Sekerkova,G., Vranich,K., Tilney,L.G., Mugnaini,E. and
            Bartles,J.R.
  TITLE     The deaf jerker mouse has a mutation in the gene encoding the espin
            actin-bundling proteins of hair cell stereocilia and lacks espins
  JOURNAL   Cell 102 (3), 377-385 (2000)
   PUBMED   10975527
REFERENCE   8  (bases 1 to 3543)
  AUTHORS   Bartles,J.R., Zheng,L., Li,A., Wierda,A. and Chen,B.
  TITLE     Small espin: a third actin-bundling protein and potential forked
            protein ortholog in brush border microvilli
  JOURNAL   J Cell Biol 143 (1), 107-119 (1998)
   PUBMED   9763424
REFERENCE   9  (bases 1 to 3543)
  AUTHORS   Bartles,J.R., Wierda,A. and Zheng,L.
  TITLE     Identification and characterization of espin, an actin-binding
            protein localized to the F-actin-rich junctional plaques of Sertoli
            cell ectoplasmic specializations
  JOURNAL   J Cell Sci 109 (Pt 6), 1229-1239 (1996)
   PUBMED   8799813
REFERENCE   10 (bases 1 to 3543)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY016927.1, AL136880.1,
            BM713713.1, AL031848.11 and AL158217.25.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 19, 2018 this sequence version replaced NM_031475.2.
            
            Summary: This gene encodes a multifunctional actin-bundling
            protein. It plays a major role in regulating the organization,
            dimensions, dynamics, and signaling capacities of the actin
            filament-rich, microvillus-type specializations that mediate
            sensory transduction in various mechanosensory and chemosensory
            cells. Mutations in this gene are associated with autosomal
            recessive neurosensory deafness, and autosomal dominant
            sensorineural deafness without vestibular involvement. [provided by
            RefSeq, Nov 2009].
            
            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.
            
            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 :: AL136880.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000645284.1/ ENSP00000496593.1
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                HY016927.1         2-46
            46-1088             AL136880.1         34-1076
            1089-1466           BM713713.1         264-641
            1467-1969           AL136880.1         1455-1957
            1970-2095           AL031848.11        3737-3862           c
            2096-3206           AL136880.1         2084-3194
            3207-3543           AL158217.25        9781-10117
FEATURES             Location/Qualifiers
     source          1..3543
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.31"
     gene            1..3543
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /note="espin"
                     /db_xref="GeneID:83715"
                     /db_xref="HGNC:HGNC:13281"
                     /db_xref="MIM:606351"
     exon            1..474
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     CDS             181..2745
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ectoplasmic specialization protein; autosomal recessive
                     deafness type 36 protein"
                     /codon_start=1
                     /product="espin isoform 1"
                     /protein_id="NP_113663.2"
                     /db_xref="CCDS:CCDS70.1"
                     /db_xref="GeneID:83715"
                     /db_xref="HGNC:HGNC:13281"
                     /db_xref="MIM:606351"
                     /translation="MALEQALQAARQGELDVLRSLHAAGLLGPSLRDPLDALPVHHAA
                     RAGKLHCLRFLVEEAALPAAARARNGATPAHDASATGHLACLQWLLSQGGCRVQDKDN
                     SGATVLHLAARFGHPEVVNWLLHHGGGDPTAATDMGALPIHYAAAKGDFPSLRLLVEH
                     YPEGVNAQTKNGATPLYLACQEGHLEVTQYLVQECGADPHARAHDGMTPLHAAAQMGH
                     SPVIVWLVSCTDVSLSEQDKDGATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPL
                     HDAAENGELECCQILVVNGAELDVRDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEH
                     RVLSRDPSAELEAKQPDSGMSSPNTTVSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKG
                     QHPPCGLSSARAADIQSYMDMLNPELGLPRGTIGKPTPPPPPPSFPPPPPPPGTQLPP
                     PPPGYPAPKPPVGPQAADIYMQTKNKLRHVETEALKKELSSCDGHDGLRRQDSSRKPR
                     AFSKQPSTGDYYRQLGRCPGETLAARPGMAHSEEVRARQPARAGCPRLGPAARGSLEG
                     PSAPPQAALLPGNHVPNGCAADPKASRELPPPPPPPPPPLPEAASSPPPAPPLPLESA
                     GPGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIG
                     QPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALI
                     PTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKL
                     EEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPWQRQVILKKGDIAKY"
     exon            475..668
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     exon            669..855
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     exon            856..1038
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1170
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1372
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     exon            1373..1644
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     exon            1645..2095
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     exon            2096..2241
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     exon            2242..2505
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     exon            2506..2585
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     exon            2586..2597
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     exon            2598..3543
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2978..2983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /note="hexamer: AACAAA"
     polyA_site      3010
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /note="major polyA site"
     polyA_site      3057
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /note="major polyA site"
     regulatory      3509..3514
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /note="hexamer: ATTAAA"
     polyA_site      3543
                     /gene="ESPN"
                     /gene_synonym="DFNB36; LP2654; USH1M"
                     /note="major polyA site"
ORIGIN      
        1 agagcgcggc ggagcggagc gccaggcagc gcggagcgga ggccaggccc acagccgctc
       61 cgcctcccgg cccgcagatc cccgacggcc gcaccgcggg ctcctctggc ccgcaagaac
      121 acgtgcatgg cgtcctgggg aaggcgctga gtgcggagtc gcggcgccgc acgcggcacc
      181 atggccctgg agcaggcgct gcaggcggcg cggcagggcg agctggacgt gctgaggtcg
      241 ctgcacgccg caggcctcct ggggccctcg ctgcgcgacc cgctggacgc gctgcccgtg
      301 caccacgcgg cccgcgctgg gaagctgcac tgtctgcgct tcctggtgga ggaagccgcc
      361 ctccccgccg cggcccgcgc ccgcaacggc gccacaccgg cccacgacgc ctccgccacc
      421 ggccacctcg cctgcctgca gtggctgctg tcgcagggcg gctgcagagt gcaggacaaa
      481 gacaattctg gtgccacagt cttgcatctg gctgcccgct tcggccaccc cgaggtggtg
      541 aactggctct tgcatcatgg cggtggggac cccaccgcgg ccacagacat gggcgccctg
      601 cctatccact acgctgccgc caaaggagac ttcccctccc tgaggcttct cgtcgagcac
      661 taccctgagg gagtgaatgc ccaaaccaag aacggtgcca cgcccctgta cctggcgtgc
      721 caggagggcc acctggaggt gacccagtac ctggtgcagg aatgcggcgc agacccgcac
      781 gcgcgcgccc acgacggcat gaccccgctg cacgccgcgg cgcagatggg ccacagccca
      841 gtcatcgtgt ggttggtgag ctgcaccgac gtgagcctgt ccgagcagga caaagacggc
      901 gccaccgcca tgcacttcgc ggcgagccgc ggccacacca aggtgctcag ctggctgctg
      961 ctgcacggcg gggagatctc ggctgacctg tggggcggga ccccgctgca cgacgccgcc
     1021 gagaacgggg agctagagtg ctgccagatc ctggtagtga acggcgcgga gctggacgtc
     1081 cgcgaccgcg acgggtacac ggccgccgac ctgtcggact tcaacggcca cagccactgc
     1141 acccgctacc tgcgcacggt ggagaacctg agcgtggagc accgcgtgct ttcccgggat
     1201 ccatccgcag agctggaggc taagcagccg gattcaggca tgtcctcacc caataccacg
     1261 gtgtcggtcc agccgctgaa ctttgacctc agctcgccta ccagcaccct ctccaactac
     1321 gactcctgct cctccagcca ctccagcatc aagggccagc accctccatg tgggctttcc
     1381 agcgctagag ctgcagacat acagagctac atggacatgc tgaacccgga gctgggcctg
     1441 cctcggggca cgattgggaa gcccacaccc ccaccacccc cacccagctt ccccccgcca
     1501 cccccgcccc caggcaccca actgccccca cccccacctg gctacccagc tcccaagcct
     1561 cctgtaggac cacaggcagc tgacatctac atgcagacca agaacaaact ccgccacgtg
     1621 gagacagagg ccctcaagaa ggagctgagc tcctgtgacg gccacgacgg gctgcggagg
     1681 caggactcca gccgcaagcc ccgcgccttc agcaagcagc ccagcacggg ggactactac
     1741 cggcagctgg gccgctgccc cggcgagacg ctggccgcac gcccgggcat ggcgcacagc
     1801 gaggaggtgc gtgcccgcca gcccgcgcgc gccggctgcc cgcgcctcgg ccctgccgcc
     1861 cgcggctcac tcgaaggccc ctccgctccc ccgcaggcgg cgctgcttcc tgggaaccat
     1921 gttcctaacg gctgcgccgc ggaccccaag gcgtccaggg agctgccacc gccgccccca
     1981 ccgccgccgc cgcccctgcc ggaggccgcg agttcgccac cgccggcccc gcctctgccc
     2041 ctcgagagcg ctggccctgg ctgcgggcag cgccgctcct cctcgtccac cggcagcacc
     2101 aagtctttca acatgatgtc cccgacgggc gacaactcgg agctactggc tgagattaag
     2161 gcaggcaaga gcctgaagcc gacgccccag agcaaggggc tgaccacagt gttctcaggc
     2221 atcgggcagc cggccttcca gcccgattcg ccgctgcctt ctgtgtcacc tgcactgtca
     2281 ccagtccgga gccccacacc gccagctgcg gggtttcagc cgctgctcaa tggaagcttg
     2341 gttcccgtgc cgcccactac tcctgcgccg ggagtgcagc tggacgtgga ggctctcatc
     2401 cccacgcacg atgagcaggg ccggcccatc cccgagtgga agcgccaggt gatggtgcgc
     2461 aagatgcagc tgaagatgca ggaggaggag gagcagaggc ggaaggagga ggaggaggag
     2521 gcccggctgg ccagcatgcc cgcctggagg cgggacctcc tgcggaagaa gctggaagaa
     2581 gagagggagc agaagcggaa agaggaggag cgacagaagc aggaggagct gcggcgggag
     2641 aaggaacagt cagagaagct gcggacgctg ggctacgatg agagcaagct ggcgccctgg
     2701 cagcgacagg tcatcctgaa gaagggggac atcgctaagt actagaggcc gcagactcct
     2761 gtccgcagcc tcgcagctcc gtggggccct ccgccccagc cccagccagc caggccctgg
     2821 tggaaaggct gggagccgca cagccctccc ctcctgcgct ggaaaccctc cctgaccccc
     2881 accctggccc cccgtatccc cagcccttgg caacactgga gtgcacacgc cgccacggtt
     2941 gcccagaaaa agtgcccaag ctgctgacgc aaacaacaac aaatgctgct tatttgcatg
     3001 ccgacttaca tatatttgca tgttcgttga ctatcaaaga gtgcagagct ctccccagcc
     3061 ccgtgggtgg tgactttgtt ttcctgcggg gctcagcccc ctccaggatg cagccccctc
     3121 ccccgcaccc cggaaccggc gtcgctggcg catcctgggt ggaggcaggc cccgagctcg
     3181 gggaaggggt tttcccttcc tctctgaccc agatctgcgc gcggcctagc ccgggcctca
     3241 tttcttatcc ccgccaaggg tttcctctca gtcatttgtt taccagaaac atgaaaactg
     3301 cctgtctggc cgggccgcac ttgtggcccc cgggacccca cctctggccc cacctccctc
     3361 aagtctgcgc cccgtcccca gccagaccca ctcgctgccg ggaccctttc actgccccgg
     3421 tggagtgaat agaggatgag gggccctgac cctgtgtctc caactgctgc accccatccc
     3481 gaccctgtct ccgccacctc gcagccccat taaagcgctc tcatctgggc tccggttcac
     3541 tca
//
