LOCUS       NM_014332                885 bp    mRNA    linear   PRI 10-DEC-2024
DEFINITION  Homo sapiens small muscle protein X-linked (SMPX), transcript
            variant 1, mRNA.
ACCESSION   NM_014332
VERSION     NM_014332.3
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 885)
  AUTHORS   Johari,M., Sarparanta,J., Vihola,A., Jonson,P.H., Savarese,M.,
            Jokela,M., Torella,A., Piluso,G., Said,E., Vella,N., Cauchi,M.,
            Magot,A., Magri,F., Mauri,E., Kornblum,C., Reimann,J.,
            Stojkovic,T., Romero,N.B., Luque,H., Huovinen,S., Lahermo,P.,
            Donner,K., Comi,G.P., Nigro,V., Hackman,P. and Udd,B.
  TITLE     Missense mutations in small muscle protein X-linked (SMPX) cause
            distal myopathy with protein inclusions
  JOURNAL   Acta Neuropathol 142 (2), 375-393 (2021)
   PUBMED   33974137
  REMARK    GeneRIF: Missense mutations in small muscle protein X-linked (SMPX)
            cause distal myopathy with protein inclusions.
REFERENCE   2  (bases 1 to 885)
  AUTHORS   Arifuzzaman,M., Mitra,S., Das,R., Hamza,A., Absar,N. and Dash,R.
  TITLE     In silico analysis of nonsynonymous single-nucleotide polymorphisms
            (nsSNPs) of the SMPX gene
  JOURNAL   Ann Hum Genet 84 (1), 54-71 (2020)
   PUBMED   31583691
  REMARK    GeneRIF: In silico analysis of nonsynonymous single-nucleotide
            polymorphisms (nsSNPs) of the SMPX gene.
REFERENCE   3  (bases 1 to 885)
  AUTHORS   Lv,Y., Gu,J., Qiu,H., Li,H., Zhang,Z., Yin,S., Mao,Y., Kong,L.,
            Liang,B., Jiang,H. and Liu,C.
  TITLE     Whole-exome sequencing identifies a donor splice-site variant in
            SMPX that causes rare X-linked congenital deafness
  JOURNAL   Mol Genet Genomic Med 7 (11), e967 (2019)
   PUBMED   31478598
  REMARK    GeneRIF: A donor splice-site variant in SMPX causes rare X-linked
            congenital deafness.
REFERENCE   4  (bases 1 to 885)
  AUTHORS   Weegerink,N.J., Huygen,P.L., Schraders,M., Kremer,H., Pennings,R.J.
            and Kunst,H.P.
  TITLE     Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6)
            family
  JOURNAL   Hear Res 282 (1-2), 167-177 (2011)
   PUBMED   21893181
  REMARK    GeneRIF: Demonstrate phenotypic heterogeneity in large family with
            an X-linked pattern of inherited sensorineural hearing impairment
            with SMPX mutations.
REFERENCE   5  (bases 1 to 885)
  AUTHORS   Schraders,M., Haas,S.A., Weegerink,N.J., Oostrik,J., Hu,H.,
            Hoefsloot,L.H., Kannan,S., Huygen,P.L., Pennings,R.J.,
            Admiraal,R.J., Kalscheuer,V.M., Kunst,H.P. and Kremer,H.
  TITLE     Next-generation sequencing identifies mutations of SMPX, which
            encodes the small muscle protein, X-linked, as a cause of
            progressive hearing impairment
  JOURNAL   Am J Hum Genet 88 (5), 628-634 (2011)
   PUBMED   21549342
  REMARK    GeneRIF: This study identifies SMPX as a gene in which variation is
            associated with X-linked deafness and illustrates that NGS is
            instrumental in the efficient identification of disease-causing
            variants in unexpected genes.
REFERENCE   6  (bases 1 to 885)
  AUTHORS   Huebner,A.K., Gandia,M., Frommolt,P., Maak,A., Wicklein,E.M.,
            Thiele,H., Altmuller,J., Wagner,F., Vinuela,A., Aguirre,L.A.,
            Moreno,F., Maier,H., Rau,I., Giesselmann,S., Nurnberg,G., Gal,A.,
            Nurnberg,P., Hubner,C.A., del Castillo,I. and Kurth,I.
  TITLE     Nonsense mutations in SMPX, encoding a protein responsive to
            physical force, result in X-chromosomal hearing loss
  JOURNAL   Am J Hum Genet 88 (5), 621-627 (2011)
   PUBMED   21549336
  REMARK    GeneRIF: Our study identified mutations in SMPX in patients with
            X-chromosomal hearing impairment and suggested that the stress
            response of mechanically challenged inner-ear cells might
            critically depend on SMPX function.
REFERENCE   7  (bases 1 to 885)
  AUTHORS   Kemp,T.J., Sadusky,T.J., Simon,M., Brown,R., Eastwood,M.,
            Sassoon,D.A. and Coulton,G.R.
  TITLE     Identification of a novel stretch-responsive skeletal muscle gene
            (Smpx)
  JOURNAL   Genomics 72 (3), 260-271 (2001)
   PUBMED   11401441
  REMARK    Erratum:[Genomics 2001 Jun 1;74(2):251]
REFERENCE   8  (bases 1 to 885)
  AUTHORS   Patzak,D., Zhuchenko,O., Lee,C.C. and Wehnert,M.
  TITLE     Identification, mapping, and genomic structure of a novel
            X-chromosomal human gene (SMPX) encoding a small muscular protein
  JOURNAL   Hum Genet 105 (5), 506-512 (1999)
   PUBMED   10598820
REFERENCE   9  (bases 1 to 885)
  AUTHORS   del Castillo,I., Villamar,M., Sarduy,M., Romero,L., Herraiz,C.,
            Hernandez,F.J., Rodriguez,M., Borras,I., Montero,A., Bellon,J.,
            Tapia,M.C. and Moreno,F.
  TITLE     A novel locus for non-syndromic sensorineural deafness (DFN6) maps
            to chromosome Xp22
  JOURNAL   Hum Mol Genet 5 (9), 1383-1387 (1996)
   PUBMED   8872482
REFERENCE   10 (bases 1 to 885)
  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 AK312134.1 and AF129505.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_014332.2.
            
            Summary: This gene encodes a small protein that has no known
            functional domains. Mutations in this gene are a cause of X-linked
            deafness-4, and the encoded protein may play a role in the
            maintenance of inner ear cells subjected to mechanical stress.
            Alternatively spliced transcript variants have been observed for
            this gene. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and is protein-coding.
            
            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 :: SRR5189655.207562.1,
                                           SRR5189655.18294.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245, SAMEA2146982
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379494.4/ ENSP00000368808.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AK312134.1         45-48
            5-885               AF129505.1         1-881
FEATURES             Location/Qualifiers
     source          1..885
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.12"
     gene            1..885
                     /gene="SMPX"
                     /gene_synonym="Chisel; Csl; DFN6; DFNX4; MPD7"
                     /note="small muscle protein X-linked"
                     /db_xref="GeneID:23676"
                     /db_xref="HGNC:HGNC:11122"
                     /db_xref="MIM:300226"
     exon            1..175
                     /gene="SMPX"
                     /gene_synonym="Chisel; Csl; DFN6; DFNX4; MPD7"
                     /inference="alignment:Splign:2.1.0"
     exon            176..232
                     /gene="SMPX"
                     /gene_synonym="Chisel; Csl; DFN6; DFNX4; MPD7"
                     /inference="alignment:Splign:2.1.0"
     CDS             188..454
                     /gene="SMPX"
                     /gene_synonym="Chisel; Csl; DFN6; DFNX4; MPD7"
                     /note="stretch-responsive skeletal muscle protein;
                     deafness, X-linked 6, sensorineural"
                     /codon_start=1
                     /product="small muscular protein"
                     /protein_id="NP_055147.1"
                     /db_xref="CCDS:CCDS14200.1"
                     /db_xref="GeneID:23676"
                     /db_xref="HGNC:HGNC:11122"
                     /db_xref="MIM:300226"
                     /translation="MNMSKQPVSNVRAIQANINIPMGAFRPGAGQPPRRKECTPEVEE
                     GVPPTSDEEKKPIPGAKKLPGPAVNLSEIQNIKSELKYVPKAEQ"
     exon            233..319
                     /gene="SMPX"
                     /gene_synonym="Chisel; Csl; DFN6; DFNX4; MPD7"
                     /inference="alignment:Splign:2.1.0"
     exon            320..468
                     /gene="SMPX"
                     /gene_synonym="Chisel; Csl; DFN6; DFNX4; MPD7"
                     /inference="alignment:Splign:2.1.0"
     exon            469..885
                     /gene="SMPX"
                     /gene_synonym="Chisel; Csl; DFN6; DFNX4; MPD7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      861..866
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMPX"
                     /gene_synonym="Chisel; Csl; DFN6; DFNX4; MPD7"
                     /note="hexamer: AATAAA"
     polyA_site      885
                     /gene="SMPX"
                     /gene_synonym="Chisel; Csl; DFN6; DFNX4; MPD7"
                     /note="major polyA site"
ORIGIN      
        1 agcagttctc aataccggga gaggcacaga gctatttcag ccacatgaaa agcatcggaa
       61 ttgagatcgc agctcagagg acaccgggcg ccccttccac cttccaagga gctttgtatt
      121 cttgcatctg gctgcctggg acttccctta ggcagtaaac aaatacataa agcagggata
      181 agactgcatg aatatgtcga aacagccagt ttccaatgtt agagccatcc aggcaaatat
      241 caatattcca atgggagcct ttcggccagg agcaggtcaa ccccccagaa gaaaagaatg
      301 tactcctgaa gtggaggagg gtgttcctcc cacctcggat gaggagaaga agccaattcc
      361 aggagcgaag aaacttccag gacctgcagt caatctatcg gaaatccaga atattaaaag
      421 tgaactaaaa tatgtcccca aagctgaaca gtagtaggaa gaaaaaagga ttgatgtgaa
      481 gaaataaaga ggcagaagat ggattcaata gctcactaaa attttatata tttgtatgat
      541 gattgtgaac ctcctgaatg cctgagactc tagcagaaat ggcctgtttg tacatttata
      601 tctcttcctt ctagttggct gtatttctta ctttatcttc atttttggca cctcacagaa
      661 caaattagcc cataaattca acacctggag ggtgtggttt tgaggaggga tatgatttta
      721 tggagaatga tatggcaatg tgcctaacga ttttgatgaa aagtttccca agctacttcc
      781 tacagtattt tggtcaatat ttggaatgcg ttttagttct tcacctttta aattatgtca
      841 ctaaactttg tatgagttca aataaatatt tgactaaatg taaaa
//
