LOCUS       NM_032326               1787 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens transmembrane protein 175 (TMEM175), transcript
            variant 1, mRNA.
ACCESSION   NM_032326
VERSION     NM_032326.4
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 1787)
  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 1787)
  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 1787)
  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 1787)
  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 1787)
  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 1787)
  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 1787)
  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 1787)
  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 1787)
  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 1787)
  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, BC005158.2 and BC047738.1.
            
            On Nov 23, 2018 this sequence version replaced NM_032326.3.
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR3476690.23441.1,
                                           SRR3476690.921379.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264771.9/ ENSP00000264771.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DA168151.1         74-87
            15-561              BC005158.2         1-547
            562-1787            BC047738.1         1011-2236
FEATURES             Location/Qualifiers
     source          1..1787
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..1787
                     /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..265
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     CDS             113..1627
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_115702.1"
                     /db_xref="CCDS:CCDS3341.1"
                     /db_xref="GeneID:84286"
                     /db_xref="HGNC:HGNC:28709"
                     /db_xref="MIM:616660"
                     /translation="MSQPRTPEQALDTPGDCPPGRRDEDAGEGIQCSQRMLSFSDALL
                     SIIATVMILPVTHTEISPEQQFDRSVQRLLATRIAVYLMTFLIVTVAWAAHTRLFQVV
                     GKTDDTLALLNLACMMTITFLPYTFSLMVTFPDVPLGIFLFCVCVIAIGVVQALIVGY
                     AFHFPHLLSPQIQRSAHRALYRRHVLGIVLQGPALCFAAAIFSLFFVPLSYLLMVTVI
                     LLPYVSKVTGWCRDRLLGHREPSAHPVEVFSFDLHEPLSKERVEAFSDGVYAIVATLL
                     ILDICEDNVPDPKDVKERFSGSLVAALSATGPRFLAYFGSFATVGLLWFAHHSLFLHV
                     RKATRAMGLLNTLSLAFVGGLPLAYQQTSAFARQPRDELERVRVSCTIIFLASIFQLA
                     MWTTALLHQAETLQPSVWFGGREHVLMFAKLALYPCASLLAFASTCLLSRFSVGIFHL
                     MQIAVPCAFLLLRLLVGLALATLRVLRGLARPEHPPPAPTGQDDPQSQLLPAPC"
     exon            266..304
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            305..402
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            403..454
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            455..490
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            491..574
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            575..739
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            740..818
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            819..954
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1787
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1787
                     /gene="TMEM175"
                     /gene_synonym="hTMEM175"
                     /note="major polyA site"
ORIGIN      
        1 gaacttccgg ctgtcaagct cccggccggg ctgactcaag cggaggcgcg cggaacagtc
       61 gccgaggcga ttcccgccca ggctcctgta accgccaggc agcggccccg ccatgtccca
      121 gccccggacc ccagagcagg cactggatac accgggggac tgccccccag gcaggagaga
      181 cgaggacgct ggggagggga tccagtgctc ccaacgcatg ctcagcttca gtgacgccct
      241 gctgtccatc atcgccaccg tcatgatcct gcctgtgacc cacacggaga tctccccaga
      301 acagcagttc gacagaagtg tacagaggct tctggcaaca cggattgccg tctacctgat
      361 gacctttctc atcgtgacag tggcctgggc agcacacaca aggttgttcc aagttgttgg
      421 gaaaacagac gacacacttg ccctgctcaa cctggcctgc atgatgacca tcaccttcct
      481 gccttacacg ttttcgttaa tggtgacctt ccctgatgtg cctctgggca tcttcttgtt
      541 ctgtgtgtgt gtgatcgcca ttggggtcgt gcaggcactg attgtggggt acgcattcca
      601 cttcccgcac ctgctgagcc cgcagatcca gcgctctgcc cacagggctc tgtaccgacg
      661 acacgtcctg ggcatcgtcc tccaaggccc ggccctgtgc tttgcagcgg ccatcttctc
      721 tctcttcttt gtccccttgt cttacctgct gatggtgact gtcatcctcc tcccctatgt
      781 cagcaaggtc accggctggt gcagagacag gctcctgggc cacagggagc cctcggctca
      841 cccagtggaa gtcttctcgt ttgacctcca cgagccactc agcaaggagc gcgtggaagc
      901 cttcagcgac ggagtctacg ccatcgtggc cacgcttctc atcctggaca tctgcgaaga
      961 caacgtcccg gaccccaagg atgtgaagga gaggttcagc ggcagcctcg tggccgccct
     1021 gagtgcgacc gggccgcgct tcctggcgta cttcggctcc ttcgccacag tgggactgct
     1081 gtggttcgcc caccactcac tcttcctgca tgtgcgcaag gccacgcggg ccatggggct
     1141 gctgaacacg ctctcgctgg ccttcgtggg tggcctccca ctagcctacc agcagacctc
     1201 ggccttcgcc cggcagcccc gcgatgagct ggagcgcgtg cgtgtcagct gcaccatcat
     1261 cttcctggcc agcatcttcc agctggccat gtggaccacg gcgctgctgc accaggcgga
     1321 gacgctgcag ccctcggtgt ggtttggcgg ccgggagcat gtgctcatgt tcgccaagct
     1381 ggcgctgtac ccctgtgcca gcctgctggc cttcgcctcc acctgcctgc tgagcaggtt
     1441 cagtgtgggc atcttccacc tcatgcagat cgccgtgccc tgcgccttcc tgttgctgcg
     1501 cctgctcgtg ggcctggccc tggccaccct gcgggtcctg cggggcctcg cccggcccga
     1561 acaccccccg ccagccccca cgggccagga cgacccacag tcccagctcc tccctgcccc
     1621 ctgctagcag ccacagagcc cactcccagc cgtcctcacc agagatggac cagggaggac
     1681 aggatgctgg gcaggggaag ccaagtcacg ggcaggccgc agtggttctt gcgtggcctg
     1741 gttttatttt cattgtgaaa tatcatgctc ttatttcagt cctcaaa
//
