LOCUS       NM_152464               3082 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens transmembrane protein 199 (TMEM199), mRNA.
ACCESSION   NM_152464
VERSION     NM_152464.3
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 3082)
  AUTHORS   Fiumara,A., Sapuppo,A., Ferri,L., Arena,A., Prato,A., Garozzo,D.,
            Sturiale,L., Morrone,A. and Barone,R.
  TITLE     Higher frequency of TMEM199-CDG in the southern mediterranean area
            is associated with c.92G>C (p.Arg31Pro) mutation
  JOURNAL   Eur J Med Genet 66 (3), 104709 (2023)
   PUBMED   36706865
  REMARK    GeneRIF: Higher frequency of TMEM199-CDG in the southern
            mediterranean area is associated with c.92G>C (p.Arg31Pro)
            mutation.
REFERENCE   2  (bases 1 to 3082)
  AUTHORS   Larsen,L.E., van den Boogert,M.A.W., Rios-Ocampo,W.A., Jansen,J.C.,
            Conlon,D., Chong,P.L.E., Levels,J.H.M., Eilers,R.E., Sachdev,V.V.,
            Zelcer,N., Raabe,T., He,M., Hand,N.J., Drenth,J.P.H., Rader,D.J.,
            Stroes,E.S.G., Lefeber,D.J., Jonker,J.W. and Holleboom,A.G.
  TITLE     Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver
            Disease as Evidenced by Human Mutations in TMEM199 and CCDC115
  JOURNAL   Cell Mol Gastroenterol Hepatol 13 (2), 583-597 (2022)
   PUBMED   34626841
  REMARK    GeneRIF: Defective Lipid Droplet-Lysosome Interaction Causes Fatty
            Liver Disease as Evidenced by Human Mutations in TMEM199 and
            CCDC115.
REFERENCE   3  (bases 1 to 3082)
  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   4  (bases 1 to 3082)
  AUTHORS   Miles,A.L., Burr,S.P., Grice,G.L. and Nathan,J.A.
  TITLE     The vacuolar-ATPase complex and assembly factors, TMEM199 and
            CCDC115, control HIF1alpha prolyl hydroxylation by regulating
            cellular iron levels
  JOURNAL   Elife 6, e22693 (2017)
   PUBMED   28296633
  REMARK    GeneRIF: Vacuolar H+ ATPase (V-ATPase), the key proton pump for
            endo-lysosomal acidification, and two previously uncharacterised
            V-ATPase assembly factors, TMEM199 and CCDC115, stabilise HIF1alpha
            in aerobic conditions.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3082)
  AUTHORS   Jansen,J.C., Timal,S., van Scherpenzeel,M., Michelakakis,H.,
            Vicogne,D., Ashikov,A., Moraitou,M., Hoischen,A., Huijben,K.,
            Steenbergen,G., van den Boogert,M.A., Porta,F., Calvo,P.L.,
            Mavrikou,M., Cenacchi,G., van den Bogaart,G., Salomon,J.,
            Holleboom,A.G., Rodenburg,R.J., Drenth,J.P., Huynen,M.A.,
            Wevers,R.A., Morava,E., Foulquier,F., Veltman,J.A. and Lefeber,D.J.
  TITLE     TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized
            by Elevated Aminotransferases, Alkaline Phosphatase, and
            Cholesterol and Abnormal Glycosylation
  JOURNAL   Am J Hum Genet 98 (2), 322-330 (2016)
   PUBMED   26833330
  REMARK    GeneRIF: We have identified TMEM199 as a protein involved in Golgi
            homeostasis and show that TMEM199 deficiency results in a hepatic
            phenotype with abnormal glycosylation.
REFERENCE   6  (bases 1 to 3082)
  AUTHORS   Kwan,J.S., Hsu,Y.H., Cheung,C.L., Dupuis,J., Saint-Pierre,A.,
            Eriksson,J., Handelman,S.K., Aragaki,A., Karasik,D.,
            Pramstaller,P.P., Kooperberg,C., Lacroix,A.Z., Larson,M.G.,
            Lau,K.S., Lorentzon,M., Pichler,I., Sham,P.C., Taliun,D.,
            Vandenput,L., Kiel,D.P., Hicks,A.A., Jackson,R.D., Ohlsson,C.,
            Benjamin,E.J. and Kung,A.W.
  TITLE     Meta-analysis of genome-wide association studies identifies two
            loci associated with circulating osteoprotegerin levels
  JOURNAL   Hum Mol Genet 23 (24), 6684-6693 (2014)
   PUBMED   25080503
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC327155.1, BC033113.1,
            AC002094.1, BQ891740.1 and AA279827.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_152464.2.
            
            Summary: The protein encoded by this gene has been observed to
            localize to the endoplasmic reticulum (ER)-Golgi intermediate
            compartment (ERGIC) and coat protein complex I (COPI) in some human
            cells. The encoded protein shares some homology with the yeast
            protein Vma12. Defects in this gene are a cause of congenital
            disorder of glycosylation, type IIp. [provided by RefSeq, Mar
            2016].
            
            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 :: SRR1803616.168609.1,
                                           SRR1803614.228339.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000292114.8/ ENSP00000292114.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DC327155.1         67-83
            18-1039             BC033113.1         1-1022
            1040-1040           AC002094.1         39430-39430         c
            1041-1466           BC033113.1         1024-1449
            1467-1938           BQ891740.1         278-749
            1939-2772           AC002094.1         37698-38531         c
            2773-3082           AA279827.1         44-353              c
FEATURES             Location/Qualifiers
     source          1..3082
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..3082
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
                     /note="transmembrane protein 199"
                     /db_xref="GeneID:147007"
                     /db_xref="HGNC:HGNC:18085"
                     /db_xref="MIM:616815"
     exon            1..235
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
                     /inference="alignment:Splign:2.1.0"
     exon            236..309
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
                     /inference="alignment:Splign:2.1.0"
     exon            310..399
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
                     /inference="alignment:Splign:2.1.0"
     exon            400..442
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
                     /inference="alignment:Splign:2.1.0"
     exon            443..555
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
                     /inference="alignment:Splign:2.1.0"
     exon            556..3082
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      870
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
                     /note="major polyA site"
     regulatory      1441..1446
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
                     /note="hexamer: AATAAA"
     polyA_site      1466
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
                     /note="major polyA site"
     regulatory      1621..1626
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
                     /note="hexamer: ATTATA"
     polyA_site      1656
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
     regulatory      3062..3067
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
                     /note="hexamer: ATTAAA"
     polyA_site      3082
                     /gene="TMEM199"
                     /gene_synonym="C17orf32; CDG2P; VMA12; VPH2"
ORIGIN      
        1 acctgaccgg agagccggct agatatggcg tcctctttgc ttgcgggcga gcgattggtg
       61 cgtgctttgg gccccggcgg ggagctggag ccagagcggc taccccgaaa gctgcgggcc
      121 gagcttgagg ccgcgctggg gaagaagcac aagggcggtg atagctccag tggcccccaa
      181 cgcttggttt ctttccgtct catccgggat ctgcaccagc atctgagaga aagggattcc
      241 aaactatacc tccatgagct cctagaaggc agtgaaatct atctcccaga ggttgtgaag
      301 cctccacgga acccagaact agttgcccgg ctggagaaga ttaagataca gctggccaat
      361 gaggaatata aacggatcac ccgcaacgtc acttgtcagg atacaagaca tggtgggact
      421 ctcagcgacc tgggaaagca agtgagatca ttgaaggctc tggtcatcac catcttcaat
      481 ttcattgtca cggtggttgc tgccttcgtc tgcacttacc ttggaagcca atatatcttc
      541 acagaaatgg cctcgcgggt gctagctgca ttgatcgtcg cctctgtggt gggtctggcc
      601 gagctgtatg tcatggtgcg ggcaatggaa ggcgagctgg gagaactgta actggtgctt
      661 catcatcaag tctagagaag actttggggg cttcaggctc caattggcag tcaccgactc
      721 agtcaaccca tcagactttt tgtattcagc tccagttagt cagaagacca gcccaggcca
      781 gctgctgttt ctgtggggag ccctaatctt ctgtgaattt ccaaagggag cattggagga
      841 gattgagata acacatcttt aaaacagaaa gaactggtct tggtctatca gtacctcttc
      901 ctgaatctgg tacccatctg ccttctccag ttcattctaa acactgctgg gactagggtt
      961 tttccatcag gagcaaatgg aatccaggcc ttcccagaag tagaccatac tgccttgaac
     1021 ttgtccatat gtacaaactg atcaccagct ttctccatac atttttaatg cagacctgta
     1081 attgagttca gaagcctcca agaaaacaga aaggatcccc tttctccagt ttgtgctgga
     1141 agaggagctg atcagagaca tcaaataaga gaaagatggg ttgctagagg atggtagaac
     1201 tggaagcaag gcagctacct ttttgcaaaa ggaaatggtg ttaggcccct tttccagaag
     1261 ataagacaga ctcatagaga ttaaatgatc actatggtcc ttcttctgtt aaatggagcc
     1321 aaagacgcct atgttgttct gaagtcttgt aatgtttaac ttctgagaac ttagattagt
     1381 ggtgtgatga tagagtctgt ataacgcatt gaaaagggta tcaggcttag ttatttatcc
     1441 aataaatatt tattgtatgc agggtattcc tattttaact cctgtgacaa cacaaagcat
     1501 agcgatttcc atagttctaa ctgttcaggg tctgctcctc ctggtacact ctttttggtt
     1561 cactgtatgt actcctgttg tctttttttt tttttccaaa gcacttttct gttttcataa
     1621 attatatact cattcactca gtggacactt cctctacaat gtttgccagt ttctgttagt
     1681 tgggagaagt gtcagctgtg aaaagaaaaa gtaggtggca ttttacagtg tttccagtaa
     1741 cctgagctat ataaaatttg tgttaaaaag ctacactggg ccaggtgagg tggctcacac
     1801 ctgtaatcgt agcattttgg gaggctgagg caggcggatc acttgaggtt gggagtttaa
     1861 gaccagcatg gccaatatag cgaaacccca tctttactaa aaatacaaaa aaattagcca
     1921 ggcgtggtgg tacatgcctg taatcccagc actttgggag accaaggtgg gaggatgctt
     1981 gagttcagga gtttgagacc agcctgggca acatggcaaa agcccatctc tacaaaaaaa
     2041 cgcagaaatt agctgacatg gtagcgcacg cctgtagtcc cagctactca ggaggctaag
     2101 gtgggaggat cacttgagcc tgggaggcag aggttgcagt aagctgagta agccaagatc
     2161 atgctattgc actctagcct ggatgacaga gtgagacctt gtctcaatga aaaagcaggg
     2221 ggcactggga ggggagaacc aaatgcccta tcctccagtt ctcagcatat agaagggagc
     2281 tctctcatct gctagccact cctgcctcac tgtgccatgc tttctgtaat gcactctggg
     2341 tccagggact gcttggcagg aggtgggaag aacaagaagt ttagggcctt cccagtttct
     2401 tagggcctgt ctggagaggg aactagcgtt tactgagttt ttacgatgtg ttacacacca
     2461 tgtaaagccc tttacctaca ttatttctta taccccaaac agagagcaaa taagtatccc
     2521 cattttttag tcacatagag ttccagagtt gccacagtta catcgcaaag tcaggatttg
     2581 aatccagtgc agaccgcaaa caccatggtt ttctctccaa agcagagcag ctccagaggt
     2641 ggaggtgact ggaatgtcct agattcagtg ggaccaggag ctgggggtgc tagcagaggc
     2701 tctcatctcc ccagggtctt gtcagtcaga gtcctaaacc cttcaattaa ctatccctct
     2761 aatcccagct gaagcctggg taatacctcc caccaagagg tatctgtgtg gaacctggcc
     2821 ctatttaggg attaggtgat ggagataaat ttccatggca aacggccctc gtccccgttc
     2881 gtttgcagag cacaacaatc cagattaagg tacagagttt gggttttatt tggagattag
     2941 ttggtattac aggtgatggt gataccaaaa cccaatgctg ctatacctgc ctccatccca
     3001 gatctgtcag gttgtctcca cagccccaca tcagagggca tccaatctga tctttgtgaa
     3061 aattaaatca acataagccc ca
//
