LOCUS       NM_182548               2084 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens LHFPL tetraspan subfamily member 5 (LHFPL5), mRNA.
ACCESSION   NM_182548
VERSION     NM_182548.4
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 2084)
  AUTHORS   Sun,L., Yang,X., Khan,A., Yu,X., Zhang,H., Han,S., Habulieti,X.,
            Sun,Y., Wang,R. and Zhang,X.
  TITLE     Panoramic variation analysis of a family with neurodevelopmental
            disorders caused by biallelic loss-of-function variants in TMEM141,
            DDHD2, and LHFPL5
  JOURNAL   Front Med 18 (1), 81-97 (2024)
   PUBMED   37837560
  REMARK    GeneRIF: Panoramic variation analysis of a family with
            neurodevelopmental disorders caused by biallelic loss-of-function
            variants in TMEM141, DDHD2, and LHFPL5.
REFERENCE   2  (bases 1 to 2084)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2084)
  AUTHORS   Yu,X., Zhao,Q., Li,X., Chen,Y., Tian,Y., Liu,S., Xiong,W. and
            Huang,P.
  TITLE     Deafness mutation D572N of TMC1 destabilizes TMC1 expression by
            disrupting LHFPL5 binding
  JOURNAL   Proc Natl Acad Sci U S A 117 (47), 29894-29903 (2020)
   PUBMED   33168709
  REMARK    GeneRIF: Deafness mutation D572N of TMC1 destabilizes TMC1
            expression by disrupting LHFPL5 binding.
REFERENCE   4  (bases 1 to 2084)
  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 2084)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2084)
  AUTHORS   Bensaid,M., Hmani-Aifa,M., Hammami,B., Tlili,A., Hakim,B.,
            Charfeddine,I., Ayadi,H., Ghorbel,A., Castillo,I.D. and Masmoudi,S.
  TITLE     DFNB66 and DFNB67 loci are non allelic and rarely contribute to
            autosomal recessive nonsyndromic hearing loss
  JOURNAL   Eur J Med Genet 54 (6), e565-e569 (2011)
   PUBMED   21816241
  REMARK    GeneRIF: Five microsatellites in the 6p21.31e22.3 region and
            screening of the LHFPL5 gene by DNA heteroduplex analysis revealed
            a novel mutation (c.89dup) in one out of 129 unrelated Tunisian
            families with autosomal recessive nonsyndromic hearing loss.
REFERENCE   7  (bases 1 to 2084)
  AUTHORS   Cosetti,M., Culang,D., Kotla,S., O'Brien,P., Eberl,D.F. and
            Hannan,F.
  TITLE     Unique transgenic animal model for hereditary hearing loss
  JOURNAL   Ann Otol Rhinol Laryngol 117 (11), 827-833 (2008)
   PUBMED   19102128
  REMARK    GeneRIF: Flies with mutations affecting the diaphanous,forked, and
            CG12026/TMHS genes displayed significant reductions in the
            amplitude of sound-evoked potentials compared to wild-type flies
REFERENCE   8  (bases 1 to 2084)
  AUTHORS   Shabbir,M.I., Ahmed,Z.M., Khan,S.Y., Riazuddin,S., Waryah,A.M.,
            Khan,S.N., Camps,R.D., Ghosh,M., Kabra,M., Belyantseva,I.A.,
            Friedman,T.B. and Riazuddin,S.
  TITLE     Mutations of human TMHS cause recessively inherited non-syndromic
            hearing loss
  JOURNAL   J Med Genet 43 (8), 634-640 (2006)
   PUBMED   16459341
  REMARK    GeneRIF: These findings establish the importance of TMHS for normal
            sound transduction in humans.
REFERENCE   9  (bases 1 to 2084)
  AUTHORS   Longo-Guess,C.M., Gagnon,L.H., Cook,S.A., Wu,J., Zheng,Q.Y. and
            Johnson,K.R.
  TITLE     A missense mutation in the previously undescribed gene Tmhs
            underlies deafness in hurry-scurry (hscy) mice
  JOURNAL   Proc Natl Acad Sci U S A 102 (22), 7894-7899 (2005)
   PUBMED   15905332
  REMARK    GeneRIF: The authors present an overview of the LHFP gene family in
            mouse and humans
REFERENCE   10 (bases 1 to 2084)
  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 BC028630.2, AK126841.1 and
            AL157823.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_182548.3.
            
            Summary: This gene is a member of the lipoma HMGIC fusion partner
            (LHFP) gene family, which is a subset of the superfamily of
            tetraspan transmembrane protein encoding genes. Mutations in this
            gene result in deafness in humans, and a mutation in a similar gene
            in mice results in deafness and vestibular dysfunction with severe
            degeneration of the organ of Corti. It is proposed to function in
            hair bundle morphogenesis. [provided by RefSeq, Jul 2008].
            
            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 :: BC028630.2, SRR1803611.79442.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2153347
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360215.3/ ENSP00000353346.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                BC028630.2         59-112
            55-328              AK126841.1         28-301
            329-966             BC028630.2         387-1024
            967-1435            AK126841.1         940-1408
            1436-1491           AL157823.9         124314-124369
            1492-2084           BC028630.2         1548-2140
FEATURES             Location/Qualifiers
     source          1..2084
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..2084
                     /gene="LHFPL5"
                     /gene_synonym="DFNB67; dJ510O8.8; TMHS"
                     /note="LHFPL tetraspan subfamily member 5"
                     /db_xref="GeneID:222662"
                     /db_xref="HGNC:HGNC:21253"
                     /db_xref="MIM:609427"
     exon            1..731
                     /gene="LHFPL5"
                     /gene_synonym="DFNB67; dJ510O8.8; TMHS"
                     /inference="alignment:Splign:2.1.0"
     CDS             320..979
                     /gene="LHFPL5"
                     /gene_synonym="DFNB67; dJ510O8.8; TMHS"
                     /note="LHFP-like protein 5; tetraspan membrane protein of
                     hair cell stereocilia; lipoma HMGIC fusion partner-like 5
                     protein"
                     /codon_start=1
                     /product="LHFPL tetraspan subfamily member 5 protein"
                     /protein_id="NP_872354.1"
                     /db_xref="CCDS:CCDS4812.1"
                     /db_xref="GeneID:222662"
                     /db_xref="HGNC:HGNC:21253"
                     /db_xref="MIM:609427"
                     /translation="MVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALF
                     IQPYWIGDSVNTPQAGYFGLFSYCVGNVLSSELICKGGPLDFSSIPSRAFKTAMFFVA
                     LGMFLIIGSIICFSLFFICNTATVYKICAWMQLAAATGLMIGCLVYPDGWDSSEVRRM
                     CGEQTGKYTLGHCTIRWAFMLAILSIGDALILSFLAFVLGYRQDKLLPDDYKADGTEE
                     V"
     exon            732..968
                     /gene="LHFPL5"
                     /gene_synonym="DFNB67; dJ510O8.8; TMHS"
                     /inference="alignment:Splign:2.1.0"
     exon            969..995
                     /gene="LHFPL5"
                     /gene_synonym="DFNB67; dJ510O8.8; TMHS"
                     /inference="alignment:Splign:2.1.0"
     exon            996..2084
                     /gene="LHFPL5"
                     /gene_synonym="DFNB67; dJ510O8.8; TMHS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2061..2066
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LHFPL5"
                     /gene_synonym="DFNB67; dJ510O8.8; TMHS"
                     /note="hexamer: AATACA"
     polyA_site      2084
                     /gene="LHFPL5"
                     /gene_synonym="DFNB67; dJ510O8.8; TMHS"
                     /note="major polyA site"
ORIGIN      
        1 ctcgggagcc gtgagccggg aagagggaga cgggcagggc ggcgccagca ggccctggtg
       61 ggcttgggag gaggcaggag actggagaca gcctcggcta gagcggacac aggcacctgg
      121 caagctttcc ttgaccaaat caaggttgtc cttgtcctat taagcctctt ccccttgcct
      181 tgaagggacc tcacctggtg ccctgacctc agcctcctcc ccaaaccccg ctggggagtg
      241 acctgcttct aggcctccat ccacaaagct acggacttgc agcccacggg accccagccc
      301 agggcctgct gccctcacca tggtgaaatt gctgccggcc caggaggcag ccaagatcta
      361 ccataccaac tatgtgcgga actcgcgagc cgtgggcgtg atgtggggta ccctcaccat
      421 ctgcttctcc gtactggtca tggccctctt catccagccc tactggatcg gcgacagcgt
      481 caacacaccg caggcaggct acttcggcct tttctcctac tgcgtgggta acgtgctgtc
      541 ctccgagctc atctgcaagg gcggccccct agacttctcc tccatcccct ctagagcctt
      601 caagactgcc atgttctttg tggccttggg catgttcctc atcattggct ccatcatctg
      661 cttcagcctg ttcttcatct gcaacacggc cacagtctat aagatctgtg catggatgca
      721 gctggctgcg gccacaggcc taatgattgg ctgcctggtc taccctgatg gttgggactc
      781 aagtgaggtg cggcgcatgt gtggggagca gacgggcaag tacacgctgg gccactgcac
      841 catccgctgg gccttcatgc tggccatcct cagcattggc gacgccctca tcctctcctt
      901 cctggccttc gtgttgggct accggcagga caagctcctc cctgacgact acaaggcaga
      961 tggaaccgag gaggtgtgaa gcagctgaag ggtcggtcat ctatttccca gacacaggaa
     1021 aactagggaa tcaaattctt cagagataag aacttgttct tccaagtttc cttgttcctg
     1081 gctactatag gcctgaagcc tgaagccttt tattataaca ctaaaactgg acagtctcct
     1141 gagacaagac ctcctactgt actctttctg gggaagcaga actgcagtga cccacttcaa
     1201 agatattcag aggctgagcg gtgcagggag tgctcagttg ctggggatgg gatccaagtc
     1261 catttcttag ttccacacag cagcaaatcg cttcaccttc ttgaagcctc tcctctgtaa
     1321 agcgagaggg ctaaatgggt ccatctctag gggccttccc tcccaggtct gtgtctgata
     1381 gcatacacac acacatatat atacacacac acacacacac acacacacac acacacacat
     1441 acatacacac acacatatat atacacacac acacacacac acacacacac actctctctc
     1501 tctctcaaac acacacaaat gcccaaccag ctctaagagg gcactgaaga ggtggctgga
     1561 catgtgctgg gtcattttta gggtgaggtg tagggggtct tttgcttctc ccttctcata
     1621 ttttgttttc ttattgctgc tcagaggggg gtaaggaatg gaggggccat cagaacttga
     1681 atcctttaac atccaccagg aagttttatg aagagtgggt gataggatct aaaatctctg
     1741 cagacttttt tcctcccggg agccaaatat cacatttcct tatggtgccc acactgactc
     1801 aaccagaact ggctaccagc ttcagaaatg tgttacttat gttcaagtaa tttgttatag
     1861 gaatagatga catttttttt tttcaaaaac tttggatttg gcatatagtc atctataggg
     1921 ggattggttc caggatcccc tgcagatgcc aaaatacatg gatgcccaag tcctcagcta
     1981 aaaatagcgt agtatttgca tataacctat gcacatcctc ctgtatactt taaatcatct
     2041 ctagattact tataatacct aatacaatgt aaatgctatg taaa
//
