LOCUS       NM_001297428            1600 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens transmembrane protein 175 (TMEM175), transcript
            variant 7, mRNA.
ACCESSION   NM_001297428 XM_005272306
VERSION     NM_001297428.2
KEYWORDS    RefSeq.
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 1600)
  AUTHORS   Zhang,J., Zeng,W., Han,Y., Lee,W.R., Liou,J. and Jiang,Y.
  TITLE     Lysosomal LAMP proteins regulate lysosomal pH by direct inhibition
            of the TMEM175 channel
  JOURNAL   Mol Cell 83 (14), 2524-2539 (2023)
   PUBMED   37390818
  REMARK    GeneRIF: Lysosomal LAMP proteins regulate lysosomal pH by direct
            inhibition of the TMEM175 channel.
REFERENCE   2  (bases 1 to 1600)
  AUTHORS   Hu,M., Li,P., Wang,C., Feng,X., Geng,Q., Chen,W., Marthi,M.,
            Zhang,W., Gao,C., Reid,W., Swanson,J., Du,W., Hume,R.I. and Xu,H.
  TITLE     Parkinson's disease-risk protein TMEM175 is a proton-activated
            proton channel in lysosomes
  JOURNAL   Cell 185 (13), 2292-2308 (2022)
   PUBMED   35750034
REFERENCE   3  (bases 1 to 1600)
  AUTHORS   Zheng,W., Shen,C., Wang,L., Rawson,S., Xie,W.J., Nist-Lund,C.,
            Wu,J., Shen,Z., Xia,S., Holt,J.R., Wu,H. and Fu,T.M.
  TITLE     pH regulates potassium conductance and drives a constitutive proton
            current in human TMEM175
  JOURNAL   Sci Adv 8 (12), eabm1568 (2022)
   PUBMED   35333573
REFERENCE   4  (bases 1 to 1600)
  AUTHORS   Wie,J., Liu,Z., Song,H., Tropea,T.F., Yang,L., Wang,H., Liang,Y.,
            Cang,C., Aranda,K., Lohmann,J., Yang,J., Lu,B., Chen-Plotkin,A.S.,
            Luk,K.C. and Ren,D.
  TITLE     A growth-factor-activated lysosomal K+ channel regulates
            Parkinson's pathology
  JOURNAL   Nature 591 (7850), 431-437 (2021)
   PUBMED   33505021
  REMARK    GeneRIF: A growth-factor-activated lysosomal K(+) channel regulates
            Parkinson's pathology.
            Erratum:[Nature. 2021 Apr;592(7855):E10. doi:
            10.1038/s41586-021-03438-x.. PMID: 33790472]
REFERENCE   5  (bases 1 to 1600)
  AUTHORS   Oh,S., Paknejad,N. and Hite,R.K.
  TITLE     Gating and selectivity mechanisms for the lysosomal K+ channel
            TMEM175
  JOURNAL   Elife 9, e53430 (2020)
   PUBMED   32228865
  REMARK    GeneRIF: Gating and selectivity mechanisms for the lysosomal K(+)
            channel TMEM175.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1600)
  AUTHORS   Nalls,M.A., Pankratz,N., Lill,C.M., Do,C.B., Hernandez,D.G.,
            Saad,M., DeStefano,A.L., Kara,E., Bras,J., Sharma,M., Schulte,C.,
            Keller,M.F., Arepalli,S., Letson,C., Edsall,C., Stefansson,H.,
            Liu,X., Pliner,H., Lee,J.H., Cheng,R., Ikram,M.A., Ioannidis,J.P.,
            Hadjigeorgiou,G.M., Bis,J.C., Martinez,M., Perlmutter,J.S.,
            Goate,A., Marder,K., Fiske,B., Sutherland,M., Xiromerisiou,G.,
            Myers,R.H., Clark,L.N., Stefansson,K., Hardy,J.A., Heutink,P.,
            Chen,H., Wood,N.W., Houlden,H., Payami,H., Brice,A., Scott,W.K.,
            Gasser,T., Bertram,L., Eriksson,N., Foroud,T. and Singleton,A.B.
  CONSRTM   International Parkinson's Disease Genomics Consortium (IPDGC);
            Parkinson's Study Group (PSG) Parkinson's Research: The Organized
            GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics
            Research Consortium (NGRC); Hussman Institute of Human Genomics
            (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health
            and Aging Research in Genetic Epidemiology (CHARGE); North American
            Brain Expression Consortium (NABEC); United Kingdom Brain
            Expression Consortium (UKBEC); Greek Parkinson's Disease
            Consortium; Alzheimer Genetic Analysis Group
  TITLE     Large-scale meta-analysis of genome-wide association data
            identifies six new risk loci for Parkinson's disease
  JOURNAL   Nat Genet 46 (9), 989-993 (2014)
   PUBMED   25064009
REFERENCE   7  (bases 1 to 1600)
  AUTHORS   Ng,M.C., Shriner,D., Chen,B.H., Li,J., Chen,W.M., Guo,X., Liu,J.,
            Bielinski,S.J., Yanek,L.R., Nalls,M.A., Comeau,M.E.,
            Rasmussen-Torvik,L.J., Jensen,R.A., Evans,D.S., Sun,Y.V., An,P.,
            Patel,S.R., Lu,Y., Long,J., Armstrong,L.L., Wagenknecht,L.,
            Yang,L., Snively,B.M., Palmer,N.D., Mudgal,P., Langefeld,C.D.,
            Keene,K.L., Freedman,B.I., Mychaleckyj,J.C., Nayak,U., Raffel,L.J.,
            Goodarzi,M.O., Chen,Y.D., Taylor,H.A. Jr., Correa,A., Sims,M.,
            Couper,D., Pankow,J.S., Boerwinkle,E., Adeyemo,A., Doumatey,A.,
            Chen,G., Mathias,R.A., Vaidya,D., Singleton,A.B., Zonderman,A.B.,
            Igo,R.P. Jr., Sedor,J.R., Kabagambe,E.K., Siscovick,D.S.,
            McKnight,B., Rice,K., Liu,Y., Hsueh,W.C., Zhao,W., Bielak,L.F.,
            Kraja,A., Province,M.A., Bottinger,E.P., Gottesman,O., Cai,Q.,
            Zheng,W., Blot,W.J., Lowe,W.L., Pacheco,J.A., Crawford,D.C.,
            Grundberg,E., Rich,S.S., Hayes,M.G., Shu,X.O., Loos,R.J.,
            Borecki,I.B., Peyser,P.A., Cummings,S.R., Psaty,B.M., Fornage,M.,
            Iyengar,S.K., Evans,M.K., Becker,D.M., Kao,W.H., Wilson,J.G.,
            Rotter,J.I., Sale,M.M., Liu,S., Rotimi,C.N. and Bowden,D.W.
  CONSRTM   FIND Consortium; eMERGE Consortium; DIAGRAM Consortium; MuTHER
            Consortium; MEta-analysis of type 2 DIabetes in African Americans
            Consortium
  TITLE     Meta-analysis of genome-wide association studies in African
            Americans provides insights into the genetic architecture of type 2
            diabetes
  JOURNAL   PLoS Genet 10 (8), e1004517 (2014)
   PUBMED   25102180
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1600)
  AUTHORS   Do,C.B., Tung,J.Y., Dorfman,E., Kiefer,A.K., Drabant,E.M.,
            Francke,U., Mountain,J.L., Goldman,S.M., Tanner,C.M.,
            Langston,J.W., Wojcicki,A. and Eriksson,N.
  TITLE     Web-based genome-wide association study identifies two novel loci
            and a substantial genetic component for Parkinson's disease
  JOURNAL   PLoS Genet 7 (6), e1002141 (2011)
   PUBMED   21738487
REFERENCE   9  (bases 1 to 1600)
  AUTHORS   Nalls,M.A., Plagnol,V., Hernandez,D.G., Sharma,M., Sheerin,U.M.,
            Saad,M., Simon-Sanchez,J., Schulte,C., Lesage,S.,
            Sveinbjornsdottir,S., Stefansson,K., Martinez,M., Hardy,J.,
            Heutink,P., Brice,A., Gasser,T., Singleton,A.B. and Wood,N.W.
  CONSRTM   International Parkinson Disease Genomics Consortium
  TITLE     Imputation of sequence variants for identification of genetic risks
            for Parkinson's disease: a meta-analysis of genome-wide association
            studies
  JOURNAL   Lancet 377 (9766), 641-649 (2011)
   PUBMED   21292315
REFERENCE   10 (bases 1 to 1600)
  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
            DA168151.1, CF242841.1 and BC047738.1.
            
            On May 31, 2019 this sequence version replaced NM_001297428.1.
            
            Transcript Variant: This variant (7) differs in its 5' UTR and uses
            a downstream start codon, compared to variant 1. The encoded
            isoform (3) has a shorter N-terminus, compared to isoform 1.
            Variants 5, 6, and 7 encode the same isoform.
            
            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 :: SRR3476690.155154.1,
                                           SRR3476690.1176601.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                DA168151.1         74-97
            25-800              CF242841.1         1-776
            801-1600            BC047738.1         1437-2236
FEATURES             Location/Qualifiers
     source          1..1600
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..1600
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /note="transmembrane protein 175"
                     /db_xref="GeneID:84286"
                     /db_xref="HGNC:HGNC:28709"
                     /db_xref="MIM:616660"
     exon            1..81
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            82..179
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            180..231
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            232..303
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     CDS             274..1440
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /note="isoform 3 is encoded by transcript variant 7;
                     endosomal/lysomomal potassium channel TMEM175;
                     endosomal/lysosomal potassium channel TMEM175;
                     endosomal/lysosomal proton channel TMEM175"
                     /codon_start=1
                     /product="endosomal/lysosomal proton channel TMEM175
                     isoform 3"
                     /protein_id="NP_001284357.1"
                     /db_xref="CCDS:CCDS75088.1"
                     /db_xref="GeneID:84286"
                     /db_xref="HGNC:HGNC:28709"
                     /db_xref="MIM:616660"
                     /translation="MMTITFLPYTFSLMVTFPDVPLGIFLFCVCVIAIGVVQALIVGY
                     AFHFPHLLSPQIQRSAHRALYRRHVLGIVLQGPALCFAAAIFSLFFVPLSYLLMVTVI
                     LLPYVSKVTGWCRDRLLGHREPSAHPVEVFSFDLHEPLSKERVEAFSDGVYAIVATLL
                     ILDICEDNVPDPKDVKERFSGSLVAALSATGPRFLAYFGSFATVGLLWFAHHSLFLHV
                     RKATRAMGLLNTLSLAFVGGLPLAYQQTSAFARQPRDELERVRVSCTIIFLASIFQLA
                     MWTTALLHQAETLQPSVWFGGREHVLMFAKLALYPCASLLAFASTCLLSRFSVGIFHL
                     MQIAVPCAFLLLRLLVGLALATLRVLRGLARPEHPPPAPTGQDDPQSQLLPAPC"
     exon            304..387
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            388..552
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            553..631
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            632..767
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            768..1600
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1600
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /note="major polyA site"
ORIGIN      
        1 gaacttccgg ctgtcaagct cccggccggg ctgactcaag cggaggcgcg cggaacagtc
       61 gccgaggcga ttcccgccca gcagttcgac agaagtgtac agaggcttct ggcaacacgg
      121 attgccgtct acctgatgac ctttctcatc gtgacagtgg cctgggcagc acacacaagg
      181 ttgttccaag ttgttgggaa aacagacgac acacttgccc tgctcaacct ggccgcatca
      241 tggctgtgat gccctccctc cctccaggcc tgcatgatga ccatcacctt cctgccttac
      301 acgttttcgt taatggtgac cttccctgat gtgcctctgg gcatcttctt gttctgtgtg
      361 tgtgtgatcg ccattggggt cgtgcaggca ctgattgtgg ggtacgcatt ccacttcccg
      421 cacctgctga gcccgcagat ccagcgctct gcccacaggg ctctgtaccg acgacacgtc
      481 ctgggcatcg tcctccaagg cccggccctg tgctttgcag cggccatctt ctctctcttc
      541 tttgtcccct tgtcttacct gctgatggtg actgtcatcc tcctccccta tgtcagcaag
      601 gtcaccggct ggtgcagaga caggctcctg ggccacaggg agccctcggc tcacccagtg
      661 gaagtcttct cgtttgacct ccacgagcca ctcagcaagg agcgcgtgga agccttcagc
      721 gacggagtct acgccatcgt ggccacgctt ctcatcctgg acatctgcga agacaacgtc
      781 ccggacccca aggatgtgaa ggagaggttc agcggcagcc tcgtggccgc cctgagtgcg
      841 accgggccgc gcttcctggc gtacttcggc tccttcgcca cagtgggact gctgtggttc
      901 gcccaccact cactcttcct gcatgtgcgc aaggccacgc gggccatggg gctgctgaac
      961 acgctctcgc tggccttcgt gggtggcctc ccactagcct accagcagac ctcggccttc
     1021 gcccggcagc cccgcgatga gctggagcgc gtgcgtgtca gctgcaccat catcttcctg
     1081 gccagcatct tccagctggc catgtggacc acggcgctgc tgcaccaggc ggagacgctg
     1141 cagccctcgg tgtggtttgg cggccgggag catgtgctca tgttcgccaa gctggcgctg
     1201 tacccctgtg ccagcctgct ggccttcgcc tccacctgcc tgctgagcag gttcagtgtg
     1261 ggcatcttcc acctcatgca gatcgccgtg ccctgcgcct tcctgttgct gcgcctgctc
     1321 gtgggcctgg ccctggccac cctgcgggtc ctgcggggcc tcgcccggcc cgaacacccc
     1381 ccgccagccc ccacgggcca ggacgaccca cagtcccagc tcctccctgc cccctgctag
     1441 cagccacaga gcccactccc agccgtcctc accagagatg gaccagggag gacaggatgc
     1501 tgggcagggg aagccaagtc acgggcaggc cgcagtggtt cttgcgtggc ctggttttat
     1561 tttcattgtg aaatatcatg ctcttatttc agtcctcaaa
//
