LOCUS       NM_014698               4109 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.
ACCESSION   NM_014698 XM_375848
VERSION     NM_014698.3
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 4109)
  AUTHORS   Chen,G.L., Li,J.Y., Chen,X., Liu,J.W., Zhang,Q., Liu,J.Y., Wen,J.,
            Wang,N., Lei,M., Wei,J.P., Yi,L., Li,J.J., Ling,Y.P., Yi,H.Q.,
            Hu,Z., Duan,J., Zhang,J. and Zeng,B.
  TITLE     Mechanosensitive channels TMEM63A and TMEM63B mediate lung
            inflation-induced surfactant secretion
  JOURNAL   J Clin Invest 134 (5), e174508 (2024)
   PUBMED   38127458
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4109)
  AUTHORS   Wu,X., Shang,T., Lu,X., Luo,D. and Yang,D.
  TITLE     A monomeric structure of human TMEM63A protein
  JOURNAL   Proteins 92 (6), 750-756 (2024)
   PUBMED   38217391
  REMARK    GeneRIF: A monomeric structure of human TMEM63A protein.
REFERENCE   3  (bases 1 to 4109)
  AUTHORS   Niloy,S.I., Strege,P.R., Hannan,E.C., Cowan,L.M., Linsenmeier,F.,
            Friedrich,O., Farrugia,G. and Beyder,A.
  TITLE     Stretch response of the mechano-gated channel TMEM63A in membrane
            patches and single cells
  JOURNAL   Am J Physiol Cell Physiol 326 (2), C622-C631 (2024)
   PUBMED   38189136
  REMARK    GeneRIF: Stretch response of the mechano-gated channel TMEM63A in
            membrane patches and single cells.
REFERENCE   4  (bases 1 to 4109)
  AUTHORS   Zheng,W., Rawson,S., Shen,Z., Tamilselvan,E., Smith,H.E.,
            Halford,J., Shen,C., Murthy,S.E., Ulbrich,M.H., Sotomayor,M.,
            Fu,T.M. and Holt,J.R.
  TITLE     TMEM63 proteins function as monomeric high-threshold
            mechanosensitive ion channels
  JOURNAL   Neuron 111 (20), 3195-3210 (2023)
   PUBMED   37543036
REFERENCE   5  (bases 1 to 4109)
  AUTHORS   Tonduti,D., Mura,E., Masnada,S., Bertini,E., Aiello,C., Zini,D.,
            Parmeggiani,L., Cantalupo,G., Talenti,G., Veggiotti,P.,
            Spaccini,L., Iascone,M. and Parazzini,C.
  TITLE     Spinal cord involvement and paroxysmal events in 'Infantile Onset
            Transient Hypomyelination' due to TMEM63A mutation
  JOURNAL   J Hum Genet 66 (10), 1035-1037 (2021)
   PUBMED   33785861
  REMARK    GeneRIF: Spinal cord involvement and paroxysmal events in
            ''Infantile Onset Transient Hypomyelination'' due to TMEM63A
            mutation.
REFERENCE   6  (bases 1 to 4109)
  AUTHORS   Schroder,B.A., Wrocklage,C., Hasilik,A. and Saftig,P.
  TITLE     The proteome of lysosomes
  JOURNAL   Proteomics 10 (22), 4053-4076 (2010)
   PUBMED   20957757
  REMARK    Review article
REFERENCE   7  (bases 1 to 4109)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   8  (bases 1 to 4109)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 4109)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   10 (bases 1 to 4109)
  AUTHORS   Schroder,B., Wrocklage,C., Pan,C., Jager,R., Kosters,B.,
            Schafer,H., Elsasser,H.P., Mann,M. and Hasilik,A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA127076.1, AB018335.1, AL117348.26, AL591895.9 and BF512395.1.
            
            On Nov 23, 2018 this sequence version replaced NM_014698.2.
            
            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 :: AB018335.1, SRR1660809.197047.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366835.8/ ENSP00000355800.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                DA127076.1         342-373
            33-788              AB018335.1         1-756
            789-789             AL117348.26        20462-20462         c
            790-897             AB018335.1         758-865
            898-898             AL117348.26        19200-19200         c
            899-3869            AB018335.1         867-3837
            3870-3870           AL591895.9         30850-30850         c
            3871-4106           AB018335.1         3839-4074
            4107-4109           BF512395.1         21-23               c
FEATURES             Location/Qualifiers
     source          1..4109
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.12"
     gene            1..4109
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /note="transmembrane protein 63A"
                     /db_xref="GeneID:9725"
                     /db_xref="HGNC:HGNC:29118"
                     /db_xref="MIM:618685"
     exon            1..77
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            78..268
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            269..468
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     CDS             283..2706
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /codon_start=1
                     /product="CSC1-like protein 1"
                     /protein_id="NP_055513.2"
                     /db_xref="CCDS:CCDS31042.1"
                     /db_xref="GeneID:9725"
                     /db_xref="HGNC:HGNC:29118"
                     /db_xref="MIM:618685"
                     /translation="MMDSPFLELWQSKAVSIREQLGLGDRPNDSYCYNSAKNSTVLQG
                     VTFGGIPTVLLIDVSCFLFLILVFSIIRRRFWDYGRIALVSEADSESRFQRLSSTSSS
                     GQQDFENELGCCPWLTAIFRLHDDQILEWCGEDAIHYLSFQRHIIFLLVVVSFLSLCV
                     ILPVNLSGDLLDKDPYSFGRTTIANLQTDNDLLWLHTIFAVIYLFLTVGFMRHHTQSI
                     KYKEENLVRRTLFITGLPRDARKETVESHFRDAYPTCEVVDVQLCYNVAKLIYLCKEK
                     KKTEKSLTYYTNLQVKTGQRTLINPKPCGQFCCCEVLGCEWEDAISYYTRMKDRLLER
                     ITEEERHVQDQPLGMAFVTFQEKSMATYILKDFNACKCQSLQCKGEPQPSSHSRELYT
                     SKWTVTFAADPEDICWKNLSIQGLRWWLQWLGINFTLFLGLFFLTTPSIILSTMDKFN
                     VTKPIHALNNPIISQFFPTLLLWSFSALLPSIVYYSTLLESHWTKSGENQIMMTKVYI
                     FLIFMVLILPSLGLTSLDFFFRWLFDKTSSEASIRLECVFLPDQGAFFVNYVIASAFI
                     GNGMELLRLPGLILYTFRMIMAKTAADRRNVKQNQAFQYEFGAMYAWMLCVFTVIVAY
                     SITCPIIAPFGLIYILLKHMVDRHNLYFVYLPAKLEKGIHFAAVNQALAAPILCLFWL
                     YFFSFLRLGMKAPATLFTFLVLLLTILVCLAHTCFGCFKHLSPLNYKTEEPASDKGSE
                     AEAHMPPPFTPYVPRILNGLASERTALSPQQQQQQTYGAIHNISGTIPGQCLAQSATG
                     SVAAAPQEA"
     exon            469..548
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            549..615
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            616..653
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            654..796
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            797..848
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            849..957
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            958..1028
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1109
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1233
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1367
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            1368..1505
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            1506..1659
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            1660..1766
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            1767..1853
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            1854..1916
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            1917..2079
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            2080..2185
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            2186..2353
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            2354..2469
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            2470..2532
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            2533..2712
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     exon            2713..4109
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4088..4093
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /note="hexamer: AGTAAA"
     polyA_site      4109
                     /gene="TMEM63A"
                     /gene_synonym="HLD19; KIAA0792"
                     /note="major polyA site"
ORIGIN      
        1 agtttcactt tgtaactttt aagtggtcgg aacacgcccc gcgctgctgg gtcccgccag
       61 acacgccgcc gccgcaggaa agtctacagt ttggtacccc aggactcgct ggtcaggaaa
      121 gccctgcagg acatgagtgt taggcccgac gcctggccct tggcagcttg ggaggtggct
      181 ggggctgctt ttgcctttgc cagagacagc tccaactgag gacctctcca acgggcccat
      241 ccacagtcct tccttcccct agtgtctggg aagacaggcg cgatgatgga ctccccgttc
      301 ctggagctgt ggcagtccaa ggcagtgtcc atcagggagc agctgggact cggggaccgg
      361 cccaacgact cctattgcta caactcggcc aaaaacagca ccgtgctcca gggggtcacc
      421 tttggtggca tccccactgt cctgctcata gacgtcagct gcttcctgtt cttaatcttg
      481 gtgttttcta ttataagaag aagattctgg gactatggcc gcattgccct ggtgtcagaa
      541 gcagacagcg agtccagatt tcagagattg tcatcgactt cctcctcagg tcaacaagac
      601 tttgaaaatg agctgggatg ctgtccctgg ctgactgcca tcttccgtct gcatgatgac
      661 cagatcctgg aatggtgtgg ggaggacgcc atccactacc tgtccttcca gaggcacatc
      721 atcttcctgt tggtggtggt cagctttttg tccctgtgtg tcatcctgcc tgtcaacctc
      781 tcaggggact tgctggacaa agacccgtat agttttggga ggacaacaat agcaaaccta
      841 cagactgaca atgacctcct ttggctgcac accatctttg ctgtcattta cctcttcctc
      901 actgtgggtt tcatgcggca ccacactcag tccattaagt acaaagagga gaacctggtg
      961 aggcggaccc tgttcatcac aggactcccc agagatgcca ggaaggagac tgtggagagc
     1021 cacttccggg acgcgtatcc cacgtgtgag gtggttgatg tgcagctgtg ctacaacgtg
     1081 gccaaactga tctacctgtg caaggagaaa aagaagactg agaagagcct gacctattac
     1141 acaaacctgc aggtgaagac aggccagcgg accctcatca accccaagcc ctgtggccag
     1201 ttttgctgct gtgaagtgct gggctgtgag tgggaagacg ccatctctta ctacacacgg
     1261 atgaaggaca ggctgctgga gaggatcaca gaggaagaac gccacgtcca ggaccagccc
     1321 ctgggaatgg ccttcgtcac cttccaggag aagtccatgg ccacctacat cctgaaagat
     1381 ttcaatgcct gcaagtgtca gagccttcag tgcaaaggtg agccccagcc gtcctcccat
     1441 agcagggagc tctatacctc caagtggaca gtcacctttg ctgctgaccc tgaggacatc
     1501 tgctggaaga acctctctat ccagggcctc cgctggtggc tacagtggct gggcatcaac
     1561 ttcaccctct tcctggggct atttttcctg accacaccct ccatcatcct gtccaccatg
     1621 gacaagttta atgtcaccaa acccatccat gcgctgaata acccgatcat cagccagttc
     1681 ttccccaccc tcctgctctg gtccttctcg gccctgctcc cctccattgt ctactactct
     1741 acactgctgg agtctcactg gaccaagtcg ggggaaaacc agatcatgat gaccaaagtc
     1801 tacatattct tgatcttcat ggtgctgatc ctgccctccc tgggtctcac cagtctagat
     1861 tttttcttcc ggtggctctt tgacaaaact tcctcggagg cctccatcag gttggagtgc
     1921 gtcttcctgc ctgaccaggg tgccttcttt gtgaactatg tcatcgcctc ggccttcatc
     1981 ggcaatggca tggagctgct gcggctgcca ggtctcatcc tctatacctt ccgcatgatc
     2041 atggccaaga cggctgctga ccgcaggaat gtcaagcaga accaggcctt ccagtacgag
     2101 tttggagcca tgtatgcatg gatgctgtgt gtcttcactg tcatcgtggc ctacagcatc
     2161 acttgtccca tcatcgcgcc atttggcctc atctacatcc tgctcaagca catggtggac
     2221 cggcacaacc tctacttcgt ctacctccca gccaagctgg agaaggggat ccactttgcc
     2281 gctgtgaacc aggccttggc agcccccatc ctgtgcctct tctggctcta cttcttttcc
     2341 ttcctgcgcc tgggtatgaa ggcccccgcc actctgttca ccttcctggt gctgctgctc
     2401 accatcctgg tctgcctggc tcacacctgc tttggatgct tcaagcacct cagccctctg
     2461 aactacaaaa cagaagagcc tgcaagtgac aaaggaagtg aggcagaggc ccacatgccc
     2521 ccaccgttca caccctacgt gcctcggatt ctgaacggct tggcctcgga gaggacagca
     2581 ctgtctccgc agcagcagca gcagcagacc tatggtgcca tccacaacat cagcgggact
     2641 atccctggac agtgcttggc gcagagcgcc acgggcagtg tggctgctgc cccccaggag
     2701 gcctgaggct gggtctcact gctctgaaaa gacacaacca gaatggcctg gggctcaggc
     2761 ccttggctga gtgggaatgc gttgggactg cccagctgag ctatcaggtg cccatctttt
     2821 ctggtcccag cagtggtgag gagagcacag gcaggcctcg cccctccctt gctcacccag
     2881 tttcccctcc ggcacaagct tccagctctg cagctggggt gacatcccca gtggtttgtc
     2941 gccaagacca tgtggtggac ttttcgcccc ccaaactgat gagtccggga gaatatatgg
     3001 agagagagat gtaacaaggg gaaggcctcc tcccttctga gcacacacac aaccgataac
     3061 caaagagatg ctgcagtcca ggtctgaggt cccgctggca tccagctccc tgctccatgg
     3121 ccagtccctc cccagcccag cagtccctcc aggctacatc caggagtaag ctatggggaa
     3181 caggttggga ggtggccagt gctcctgcca gctgtgcaca catctctgta tcccgctaga
     3241 gttctgtgtt tttgtatcat gttgtcaggg acgctagctg ggtcagggtt accccatagc
     3301 aggcagggac aaggaccact cataatatgc ccattggacc acagttaaga tccagcctct
     3361 ctcacctctt cagggctgag tgcatgagtc tgcacctcca ggcaggctct gtgcagtact
     3421 caccccctcc gtctgctccc tccaaggtgt gggggtgggc agtgctcagg gcctcctcgg
     3481 agccaaagga cagcatggtc ggcacagagg aaggggtacc tgggctgggt gcagggccat
     3541 cccactgccc ttgagctgtg gctctggcag gaaggagggg cagcccatcc ctcttctccc
     3601 tcctggggat tctggggaat gggatgcaac ttaagacttc tgcctgagaa gcctcctccc
     3661 tgctgcctcc agggggcacc aaggcacaag cctgtgcagt aggggcggga tgggggtgtg
     3721 gaagagcagg tccaggctcc tagcacaact ggcctggggc cttggcacct ctgtaggccc
     3781 tgcctgtgcc tgtccgctgg cctggggggc ctgggcttat ctgggccttc tcactcaggg
     3841 actctcttga cgctgacttg cccccgcagt ggtggccagt gctgcctctg ctccaagctg
     3901 cccctgcgct gggaggggtg ggggcggtgc cattggtctg gtgcagcata gccctggcca
     3961 gtggcctcat ccccagcagg cctcccgtgc ctctgccagc aaggaggggc cggccagctc
     4021 tgcttgcaca gggggcccca tgtggggtca gcgcacgctc atgtcactga gttccagccg
     4081 cttttagagt aaagtcgttt atcatcaaa
//
