LOCUS       NM_001009925            1435 bp    mRNA    linear   PRI 06-AUG-2024
DEFINITION  Homo sapiens transmembrane protein 230 (TMEM230), transcript
            variant 4, mRNA.
ACCESSION   NM_001009925
VERSION     NM_001009925.2
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 1435)
  AUTHORS   Cocola,C., Abeni,E., Martino,V., Piscitelli,E., Pelucchi,P.,
            Mosca,E., Chiodi,A., Mohamed,T., Palizban,M., Porta,G.,
            Palizban,H., Nano,G., Acquati,F., Bruno,A., Greve,B., Gerovska,D.,
            Magnaghi,V., Mazzaccaro,D., Bertalot,G., Kehler,J., Balbino,C.,
            Arauzo-Bravo,M.J., Gotte,M., Zucchi,I. and Reinbold,R.A.
  TITLE     Transmembrane Protein TMEM230, Regulator of Glial Cell Vascular
            Mimicry and Endothelial Cell Angiogenesis in High-Grade
            Heterogeneous Infiltrating Gliomas and Glioblastoma
  JOURNAL   Int J Mol Sci 25 (7), 3967 (2024)
   PUBMED   38612777
  REMARK    GeneRIF: Transmembrane Protein TMEM230, Regulator of Glial Cell
            Vascular Mimicry and Endothelial Cell Angiogenesis in High-Grade
            Heterogeneous Infiltrating Gliomas and Glioblastoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1435)
  AUTHORS   Romero Villela,P.N., Evans,L.M., Palviainen,T., Border,R.,
            Kaprio,J., Palmer,R.H.C., Keller,M.C. and Ehringer,M.A.
  TITLE     Loci on chromosome 20 interact with rs16969968 to influence
            cigarettes per day in European ancestry individuals
  JOURNAL   Drug Alcohol Depend 257, 111126 (2024)
   PUBMED   38387257
  REMARK    GeneRIF: Loci on chromosome 20 interact with rs16969968 to
            influence cigarettes per day in European ancestry individuals.
REFERENCE   3  (bases 1 to 1435)
  AUTHORS   Cocola,C., Abeni,E., Martino,V., Piscitelli,E., Morara,S.,
            Pelucchi,P., Mosca,E., Chiodi,A., Mohamed,T., Palizban,M., De
            Petro,G., Porta,G., Greve,B., Noghero,A., Magnaghi,V.,
            Bellipanni,G., Kehler,J., Gotte,M., Bussolino,F., Milanesi,L.,
            Zucchi,I. and Reinbold,R.
  TITLE     Transmembrane protein TMEM230, regulator of metalloproteins and
            motor proteins in gliomas and gliosis
  JOURNAL   Adv Protein Chem Struct Biol 141, 255-297 (2024)
   PUBMED   38960477
  REMARK    GeneRIF: Transmembrane protein TMEM230, regulator of
            metalloproteins and motor proteins in gliomas and gliosis.
            Review article
REFERENCE   4  (bases 1 to 1435)
  AUTHORS   Wang,X., Guo,G., Zhang,J., Aebez,N., Liu,Z., Liu,C.F., Ross,C.A.
            and Smith,W.W.
  TITLE     Mutant-TMEM230-induced neurodegeneration and impaired axonal
            mitochondrial transport
  JOURNAL   Hum Mol Genet 30 (16), 1535-1542 (2021)
   PUBMED   34002226
REFERENCE   5  (bases 1 to 1435)
  AUTHORS   Wang,X., Whelan,E., Liu,Z., Liu,C.F. and Smith,W.W.
  TITLE     Controversy of TMEM230 Associated with Parkinson's Disease
  JOURNAL   Neuroscience 453, 280-286 (2021)
   PUBMED   33212219
  REMARK    GeneRIF: Controversy of TMEM230 Associated with Parkinson's
            Disease.
            Review article
REFERENCE   6  (bases 1 to 1435)
  AUTHORS   Deng,H.X., Shi,Y., Yang,Y., Ahmeti,K.B., Miller,N., Huang,C.,
            Cheng,L., Zhai,H., Deng,S., Nuytemans,K., Corbett,N.J., Kim,M.J.,
            Deng,H., Tang,B., Yang,Z., Xu,Y., Chan,P., Huang,B., Gao,X.P.,
            Song,Z., Liu,Z., Fecto,F., Siddique,N., Foroud,T., Jankovic,J.,
            Ghetti,B., Nicholson,D.A., Krainc,D., Melen,O., Vance,J.M.,
            Pericak-Vance,M.A., Ma,Y.C., Rajput,A.H. and Siddique,T.
  TITLE     Identification of TMEM230 mutations in familial Parkinson's disease
  JOURNAL   Nat Genet 48 (7), 733-739 (2016)
   PUBMED   27270108
  REMARK    GeneRIF: TMEM230 mutation is associated with Parkinson's disease.
REFERENCE   7  (bases 1 to 1435)
  AUTHORS   Casabonne,D., Reina,O., Benavente,Y., Becker,N., Maynadie,M.,
            Foretova,L., Cocco,P., Gonzalez-Neira,A., Nieters,A., Boffetta,P.,
            Middeldorp,J.M. and de Sanjose,S.
  TITLE     Single nucleotide polymorphisms of matrix metalloproteinase 9
            (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus
            in chronic lymphocytic leukemia: results from the European
            case-control study EpiLymph
  JOURNAL   Haematologica 96 (2), 323-327 (2011)
   PUBMED   21048031
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   8  (bases 1 to 1435)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (bases 1 to 1435)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (bases 1 to 1435)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC070212.1, BC009768.1 and
            BC011990.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 13, 2020 this sequence version replaced NM_001009925.1.
            
            Summary: This gene encodes a multi-pass transmembrane protein that
            belongs to the TMEM134/TMEM230 protein family. The encoded protein
            localizes to secretory and recycling vesicle in the neuron and may
            be involved in synaptic vesicles trafficking and recycling.
            Mutations in this gene may be linked to familial Parkinson's
            disease. [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (4) lacks an exon in the 5'
            region, and uses a downstream AUG codon for translation initiation,
            as compared to variant 1. The encoded isoform (2) has a shorter
            N-terminus, as compared to isoform 1.
            
            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 :: BC110408.1, CV816674.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000202834.12/ ENSP00000202834.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 BC070212.1         12-20
            10-1433             BC009768.1         5-1428
            1434-1435           BC011990.1         1417-1418
FEATURES             Location/Qualifiers
     source          1..1435
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13-p12.3"
     gene            1..1435
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="transmembrane protein 230"
                     /db_xref="GeneID:29058"
                     /db_xref="HGNC:HGNC:15876"
                     /db_xref="MIM:617019"
     exon            1..116
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /inference="alignment:Splign:2.1.0"
     exon            117..230
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /inference="alignment:Splign:2.1.0"
     CDS             132..494
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="isoform 2 is encoded by transcript variant 4;
                     UPF0414 transmembrane protein C20orf30"
                     /codon_start=1
                     /product="transmembrane protein 230 isoform 2"
                     /protein_id="NP_001009925.1"
                     /db_xref="CCDS:CCDS13086.1"
                     /db_xref="GeneID:29058"
                     /db_xref="HGNC:HGNC:15876"
                     /db_xref="MIM:617019"
                     /translation="MMPSRTNLATGIPSSKVKYSRLSSTDDGYIDLQFKKTPPKIPYK
                     AIALATVLFLIGAFLIIIGSLLLSGYISKGGADRAVPVLIIGILVFLPGFYHLRIAYY
                     ASKGYRGYSYDDIPDFDD"
     exon            231..353
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /inference="alignment:Splign:2.1.0"
     exon            354..1435
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1412..1417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="hexamer: AATAAA"
     polyA_site      1435
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="major polyA site"
ORIGIN      
        1 actgatcccg cctggggccg gctgagtggc acttaagcgg gccatgccat gcaaccttgg
       61 gcgctgccaa ccgtgggcga gctctgggtg tgcgggcggc ctggcgcggc gctccgctgt
      121 gtcagcgtgt tatgatgccg tcccgtacca acctggctac tggaatcccc agtagtaaag
      181 tgaaatattc aaggctctcc agcacagacg atggctacat tgaccttcag tttaagaaaa
      241 cccctcctaa gatcccttat aaggccatcg cacttgccac tgtgctgttt ttgattggcg
      301 cctttctcat tattataggc tccctcctgc tgtcaggcta catcagcaaa gggggggcag
      361 accgggccgt tccagtgctg atcattggca ttctggtgtt cctacccgga ttttaccacc
      421 tgcgcatcgc ttactatgca tccaaaggct accgtggtta ctcctatgat gacattccag
      481 actttgatga ctagcaccca ccccatagct gaggaggagt cacagtggaa ctgtcccagc
      541 tttaagatat ctagcagaaa ctatagctga ggactaagga attctgcagc ttgcagatgt
      601 ttaagaaaat aatggccaga ttttttgggt ccttcccaaa gatgttaagt gaacctacag
      661 ttagctaatt aggacaagct ctatttttca tccctgggcc ctgacaagtt tttccacagg
      721 aatatgtatc atggaagaat agaggttatt ctgtaatgga aaagtgttgc ctgccaccac
      781 cctctgtaga gctgagcatt tcttttaaat agtcttcatt gccaatttgt tcttgtagca
      841 aatggaacaa tgtggtatgg ctaatttctt attattaagt aatttatttt aaaaatatct
      901 gagtatatta tcctgtacac ttatccctac cttcatgttc cagtggaaga ccttagtaaa
      961 atcaaagatc agtgagttca tctgtaatat tttttttact tgctttctta ctgacagcaa
     1021 ccaggaattt ttttatcctg cagagcaagt tttcaaaatg taaatacttc ctctgtttaa
     1081 cagtccttgg accattctga tccagttcac cagtaggttg gacagcatat aatttgcatc
     1141 attttgtccc ttgtaaatca agatgttctg cagattattc ctttaacggc cggacttttg
     1201 gctgtttcct aatgaaacat gtagtggtta ttatttagag tttatagccg tattgctagc
     1261 accttgtagt atgtcatcat tctgctcatg attccaagga tcagcctgga tgcctagagg
     1321 actagatcac cttagtttga ttctattttt tagcttgcaa aaagtgactt atattccaaa
     1381 gaaattaaaa tgttgaaatc caaatcctag aaataaaatg agttaacttc aaaca
//
