LOCUS       NM_032813               3911 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens transmembrane O-mannosyltransferase targeting
            cadherins 4 (TMTC4), transcript variant 1, mRNA.
ACCESSION   NM_032813
VERSION     NM_032813.5
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 3911)
  AUTHORS   Li,J., Choi,B.Y., Eltawil,Y., Ismail Mohamad,N., Park,Y.,
            Matthews,I.R., Han,J.H., Kim,B.J., Sherr,E.H. and Chan,D.K.
  TITLE     TMTC4 is a hair cell-specific human deafness gene
  JOURNAL   JCI Insight 8 (24), e172665 (2023)
   PUBMED   37943620
  REMARK    GeneRIF: TMTC4 is a hair cell-specific human deafness gene.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3911)
  AUTHORS   Makboul,R., Abdelkawi,I.F., Badary,D.M., Hussein,M.R.A., Rhim,J.S.,
            Toraih,E.A., Zerfaoui,M. and Abd Elmageed,Z.Y.
  TITLE     Transmembrane and Tetratricopeptide Repeat Containing 4 Is a Novel
            Diagnostic Marker for Prostate Cancer with High Specificity and
            Sensitivity
  JOURNAL   Cells 10 (5), 1029 (2021)
   PUBMED   33925440
  REMARK    GeneRIF: Transmembrane and Tetratricopeptide Repeat Containing 4 Is
            a Novel Diagnostic Marker for Prostate Cancer with High Specificity
            and Sensitivity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3911)
  AUTHORS   Eisenhaber,B., Sinha,S., Jadalanki,C.K., Shitov,V.A., Tan,Q.W.,
            Sirota,F.L. and Eisenhaber,F.
  TITLE     Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4,
            new O-mannosyltransferases from the GT-C/PMT clan, are rationalized
            as ligand binding sites
  JOURNAL   Biol Direct 16 (1), 4 (2021)
   PUBMED   33436046
  REMARK    GeneRIF: Conserved sequence motifs in human TMTC1, TMTC2, TMTC3,
            and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are
            rationalized as ligand binding sites.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3911)
  AUTHORS   Li,J., Akil,O., Rouse,S.L., McLaughlin,C.W., Matthews,I.R.,
            Lustig,L.R., Chan,D.K. and Sherr,E.H.
  TITLE     Deletion of Tmtc4 activates the unfolded protein response and
            causes postnatal hearing loss
  JOURNAL   J Clin Invest 128 (11), 5150-5162 (2018)
   PUBMED   30188326
REFERENCE   5  (bases 1 to 3911)
  AUTHORS   Larsen,I.S.B., Narimatsu,Y., Joshi,H.J., Siukstaite,L.,
            Harrison,O.J., Brasch,J., Goodman,K.M., Hansen,L., Shapiro,L.,
            Honig,B., Vakhrushev,S.Y., Clausen,H. and Halim,A.
  TITLE     Discovery of an O-mannosylation pathway selectively serving
            cadherins and protocadherins
  JOURNAL   Proc Natl Acad Sci U S A 114 (42), 11163-11168 (2017)
   PUBMED   28973932
REFERENCE   6  (bases 1 to 3911)
  AUTHORS   Zeytuni,N. and Zarivach,R.
  TITLE     Structural and functional discussion of the tetra-trico-peptide
            repeat, a protein interaction module
  JOURNAL   Structure 20 (3), 397-405 (2012)
   PUBMED   22404999
  REMARK    Review article
REFERENCE   7  (bases 1 to 3911)
  AUTHORS   Christian,S.L., McDonough,J., Liu Cy,C.Y., Shaikh,S., Vlamakis,V.,
            Badner,J.A., Chakravarti,A. and Gershon,E.S.
  TITLE     An evaluation of the assembly of an approximately 15-Mb region on
            human chromosome 13q32-q33 linked to bipolar disorder and
            schizophrenia
  JOURNAL   Genomics 79 (5), 635-656 (2002)
   PUBMED   11991713
REFERENCE   8  (bases 1 to 3911)
  AUTHORS   Blatch,G.L. and Lassle,M.
  TITLE     The tetratricopeptide repeat: a structural motif mediating
            protein-protein interactions
  JOURNAL   Bioessays 21 (11), 932-939 (1999)
   PUBMED   10517866
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK056409.1, CV029196.1,
            BG830268.1, DA368450.1, AL359085.14 and AW513848.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_032813.4.
            
            Summary: This gene encodes a transmembrane protein that belongs to
            family of proteins containing an N-terminal transmembrane domain
            and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains
            mediate protein-protein interactions in various cellular processes,
            such as synaptic vesicle fusion, protein folding, and protein
            translocation. A pseudogene of this gene has been defined on
            chromosome 5. [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 4. The encoded
            isoform (1) is shorter than isoform 4.
            
            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 :: AK056409.1, SRR14038196.900456.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342624.10/ ENSP00000343871.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1118              AK056409.1         1-1118
            1119-1545           CV029196.1         152-578
            1546-1901           BG830268.1         362-717
            1902-2115           AK056409.1         1901-2114
            2116-2466           DA368450.1         210-560
            2467-3624           AL359085.14        16971-18128         c
            3625-3700           AW513848.1         18-93               c
            3701-3911           AL359085.14        16684-16894         c
FEATURES             Location/Qualifiers
     source          1..3911
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.3"
     gene            1..3911
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /note="transmembrane O-mannosyltransferase targeting
                     cadherins 4"
                     /db_xref="GeneID:84899"
                     /db_xref="HGNC:HGNC:25904"
                     /db_xref="MIM:618203"
     exon            1..52
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            53..262
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     CDS             260..2542
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /EC_number="2.4.1.109"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane and TPR repeat-containing protein 4; protein
                     O-mannosyl-transferase TMTC4; transmembrane and
                     tetratricopeptide repeat containing 4"
                     /codon_start=1
                     /product="protein O-mannosyl-transferase TMTC4 isoform 1"
                     /protein_id="NP_116202.2"
                     /db_xref="CCDS:CCDS9497.2"
                     /db_xref="GeneID:84899"
                     /db_xref="HGNC:HGNC:25904"
                     /db_xref="MIM:618203"
                     /translation="MIPNQHNAGAGSHQPAVFRMAVLDTDLDHILPSSVLPPFWAKLV
                     VGSVAIVCFARSYDGDFVFDDSEAIVNNKDLQAETPLGDLWHHDFWGSRLSSNTSHKS
                     YRPLTVLTFRINYYLSGGFHPVGFHVVNILLHSGISVLMVDVFSVLFGGLQYTSKGRR
                     LHLAPRASLLAALLFAVHPVHTECVAGVVGRADLLCALFFLLSFLGYCKAFRESNKEG
                     AHSSTFWVLLSIFLGAVAMLCKEQGITVLGLNAVFDILVIGKFNVLEIVQKVLHKDKS
                     LENLGMLRNGGLLFRMTLLTSGGAGMLYVRWRIMGTGPPAFTEVDNPASFADSMLVRA
                     VNYNYYYSLNAWLLLCPWWLCFDWSMGCIPLIKSISDWRVIALAALWFCLIGLICQAL
                     CSEDGHKRRILTLGLGFLVIPFLPASNLFFRVGFVVAERVLYLPSVGYCVLLTFGFGA
                     LSKHTKKKKLIAAVVLGILFINTLRCVLRSGEWRSEEQLFRSALSVCPLNAKVHYNIG
                     KNLADKGNQTAAIRYYREAVRLNPKYVHAMNNLGNILKERNELQEAEELLSLAVQIQP
                     DFAAAWMNLGIVQNSLKRFEAAEQSYRTAIKHRRKYPDCYYNLGRLYADLNRHVDALN
                     AWRNATVLKPEHSLAWNNMIILLDNTGNLAQAEAVGREALELIPNDHSLMFSLANVLG
                     KSQKYKESEALFLKAIKANPNAASYHGNLAVLYHRWGHLDLAKKHYEISLQLDPTASG
                     TKENYGLLRRKLELMQKKAV"
     exon            263..478
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            479..594
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            595..811
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            812..899
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            900..1000
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1093
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1258
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            1259..1461
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..1633
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..1765
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            1766..1845
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            1846..1953
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            1954..2095
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            2096..2210
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            2211..2323
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            2324..2393
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     exon            2394..3911
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3579..3584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /note="hexamer: AGTAAA"
     polyA_site      3600
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /note="major polyA site"
     regulatory      3674..3679
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /note="hexamer: AATGAA"
     polyA_site      3697
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
     regulatory      3891..3896
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
                     /note="hexamer: AATAAA"
     polyA_site      3911
                     /gene="TMTC4"
                     /gene_synonym="DFNB122"
ORIGIN      
        1 agagtttccg cacccgggag ggagatgcgg ccggggctca ggctccttgc agttgtaatt
       61 tagattcgag aagtggttta tcctttgact ggaaaagaaa agtagctgca gtattccccc
      121 agcacttgct gagagcatgc cgtatgccag gctgtgaggc tcgagagaca agcagtggaa
      181 gagttgcggc ctgtttcatc tctggattgt aaatctgagc ctccttctgg cccctggaag
      241 gggacagcat caccatggaa tgattcctaa ccagcataat gctggagccg ggagccacca
      301 acctgcagtt ttcagaatgg ccgtgttgga cactgatttg gatcacattc ttccatcttc
      361 tgttcttcct ccattctggg ctaagttagt agtgggatcg gttgccattg tgtgttttgc
      421 acgcagctat gatggagact ttgtctttga tgactcagaa gctattgtta acaataagga
      481 cctccaagca gaaacgcccc tgggggacct gtggcatcat gacttctggg gcagtagact
      541 gagcagcaac accagccaca agtcctaccg gcctctcacc gtcctgactt tcaggattaa
      601 ctactacctc tcgggaggct tccaccccgt gggctttcac gtggtcaaca tcctcctgca
      661 cagtggcatc tctgtcctca tggtggacgt cttctcggtt ctgtttggcg gcctgcagta
      721 caccagtaaa ggccggaggc tgcacctcgc ccccagggcg tccctgctgg ccgcgctgct
      781 gtttgctgtc catcctgtgc acaccgagtg tgttgctggt gttgtcggcc gtgcagacct
      841 cctgtgtgcc ctgttcttct tgttatcttt ccttggctac tgtaaagcat ttagagaaag
      901 taacaaggag ggagcgcatt cttccacctt ctgggtgctg ctgagtatct ttctgggagc
      961 agtggccatg ctgtgcaaag agcaagggat cactgtgctg ggtttaaatg cggtatttga
     1021 catcttggtg ataggcaaat tcaatgttct ggaaattgtc cagaaggtac tacataagga
     1081 caagtcatta gagaatctcg gcatgctcag gaacgggggc ctcctcttca gaatgaccct
     1141 gctcacctct ggaggggctg ggatgctcta cgtgcgctgg aggatcatgg gcacgggccc
     1201 gccggccttc accgaggtgg acaacccggc ctcctttgct gacagcatgc tggtgagggc
     1261 cgtaaactac aattactact attcattgaa tgcctggctg ctgctgtgtc cctggtggct
     1321 gtgttttgat tggtcaatgg gctgcatccc cctcattaag tccatcagcg actggagggt
     1381 aattgcactt gcagcactct ggttctgcct aattggcctg atatgccaag ccctgtgctc
     1441 tgaagacggc cacaagagaa ggatccttac tctgggcctg ggatttctcg ttatcccatt
     1501 tctccccgcg agtaacctgt tcttccgagt gggcttcgtg gtcgcagagc gtgtcctcta
     1561 cctccccagc gttgggtact gtgtgctgct gacttttgga ttcggagccc tgagcaaaca
     1621 taccaagaaa aagaaactca ttgccgctgt cgtgctggga atcttattca tcaacacgct
     1681 gagatgtgtg ctgcgcagcg gcgagtggcg gagtgaggaa cagcttttca gaagtgctct
     1741 gtctgtgtgt cccctcaatg ctaaggttca ctacaacatt ggcaaaaacc tggctgataa
     1801 aggcaaccag acagctgcca tcagatacta ccgggaagct gtaagattaa atcccaagta
     1861 tgttcatgcc atgaataatc ttggaaatat cttaaaagaa aggaatgagc tacaggaagc
     1921 tgaggagctg ctgtctttgg ctgttcaaat acagccagac tttgccgctg cgtggatgaa
     1981 tctaggcata gtgcagaata gcctgaaacg gtttgaagca gcagagcaaa gttaccggac
     2041 agcaattaaa cacagaagga aatacccaga ctgttactac aacctcgggc gtctgtatgc
     2101 agatctcaat cgccacgtgg atgccttgaa tgcgtggaga aatgccaccg tgctgaaacc
     2161 agagcacagc ctggcctgga acaacatgat tatactcctc gacaatacag gtaatttagc
     2221 ccaagctgaa gcagttggaa gagaggcact ggaattaata cctaatgatc actctctcat
     2281 gttctcgttg gcaaacgtgc tggggaaatc ccagaaatac aaggaatctg aagctttatt
     2341 cctcaaggca attaaagcaa atccaaatgc tgcaagttac catggtaatt tggctgtgct
     2401 ttatcatcgt tggggacatc tagacttggc caagaaacac tatgaaatct ccttgcagct
     2461 tgaccccacg gcatcaggaa ctaaggagaa ttacggtctg ctgagaagaa agctagaact
     2521 aatgcaaaag aaagctgtct gatcctgttt ccttcatgtt ttgagtttga gtgtgtgtgt
     2581 gcatgaggca tatcattaat agtatgtggt tacatttaac catttaaaag tcttagacat
     2641 gttattttac tgattttttt ctatgaaaac aaagacatgc aaaaagatta tagcaccagc
     2701 aatatactct tgaatgcgtg atatgatttt tcattgaaat tgtatttttt cagacaactc
     2761 aaatgtaatt ctaaaattcc aaaaatgtct tttttaatta aacagaaaaa gagaaaaaat
     2821 tatcttgagc aacttttagt agaattgagc ttacatttgg gatctgagcc ttgtcgtgta
     2881 tggactagca ctattaaact tcaattatga ccaagaaagg atacactggc ccctacaatt
     2941 tgtataaata ttgaacatgt ctatatatta gcatttttat ttaatgacaa agcaaattaa
     3001 gtttttttat ctcttttttt taaaacaaca tactgtgaac tttgtaagga aatatttatt
     3061 tgtattttta tgttttgaat agggcaaata atcgaatgag gaatggaagt tttaacatag
     3121 tatatctata tgcttttccc cataggaaga aattgactct tgcagttttt ggatgctctg
     3181 acttgtgcaa tttcaataca caggagatta tgtaatgtaa tattttacat aagcggttac
     3241 tatcaattga aagttcaagc catgctttag gcaagagcag gcagcctcac atctttattt
     3301 ttgttacatc caaggtgaag agggcaacac atctgtgtaa gctgcttttt agtgtgttta
     3361 tctgaaggcc gttttccatt ttgcttaatg taactacaga cattatccag aaaatgcaaa
     3421 attttctatc aaatggagcc acattcgggg aattcgtggt atttttaaga attgagttgt
     3481 tcctgctgtt ttttatttga tccaaacaat gttttgtttt gttcttctct gtatgctgtt
     3541 gacctaatga tttatgcaat ctctgtaatt tcttatgcag taaaattact acacaaacta
     3601 gcatgaaaat gtcatattgc cttcttaatc aattattttc aagtagtgaa ctttgtatcc
     3661 tcctttacct taaaatgaaa tcaaactgac caaatcatca tttatgtggc ttctgtgtga
     3721 cttggggacc atttcataga atggcactac agtgttttcc aagttcagag aacagagcga
     3781 gtagatccac actgagagga atgtgattct ctggactcac gtgttggggg caggtctgtg
     3841 tagtgtttca gtcagtgatt gtaacttctg gtgtttgaaa tgtatcaaga aataaagtgc
     3901 tgtgtttaaa a
//
