LOCUS       NM_018252               2469 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens proton activated chloride channel 1 (PACC1),
            transcript variant 2, mRNA.
ACCESSION   NM_018252
VERSION     NM_018252.3
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 2469)
  AUTHORS   Pissas,K.P., Grunder,S. and Tian,Y.
  TITLE     Functional expression of the proton sensors ASIC1a, TMEM206, and
            OGR1 together with BKCa channels is associated with cell volume
            changes and cell death under strongly acidic conditions in DAOY
            medulloblastoma cells
  JOURNAL   Pflugers Arch 476 (6), 923-937 (2024)
   PUBMED   38627262
  REMARK    GeneRIF: Functional expression of the proton sensors ASIC1a,
            TMEM206, and OGR1 together with BKCa channels is associated with
            cell volume changes and cell death under strongly acidic conditions
            in DAOY medulloblastoma cells.
REFERENCE   2  (bases 1 to 2469)
  AUTHORS   Kostritskaia,Y., Klussendorf,M., Pan,Y.E., Hassani Nia,F.,
            Kostova,S. and Stauber,T.
  TITLE     Physiological Functions of the Volume-Regulated Anion Channel
            VRAC/LRRC8 and the Proton-Activated Chloride Channel ASOR/TMEM206
  JOURNAL   Handb Exp Pharmacol 283, 181-218 (2024)
   PUBMED   37468723
  REMARK    GeneRIF: Physiological Functions of the Volume-Regulated Anion
            Channel VRAC/LRRC8 and the Proton-Activated Chloride Channel
            ASOR/TMEM206.
REFERENCE   3  (bases 1 to 2469)
  AUTHORS   Peng,F., Li,H., Li,J. and Wang,Z.
  TITLE     Downregulation of the Proton-Activated Cl- Channel TMEM206 Inhibits
            Malignant Properties of Human Osteosarcoma Cells
  JOURNAL   Oxid Med Cell Longev 2021, 3672112 (2021)
   PUBMED   34777684
  REMARK    GeneRIF: Downregulation of the Proton-Activated Cl- Channel TMEM206
            Inhibits Malignant Properties of Human Osteosarcoma Cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2469)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 2469)
  AUTHORS   Ruan,Z., Osei-Owusu,J., Du,J., Qiu,Z. and Lu,W.
  TITLE     Structures and pH-sensing mechanism of the proton-activated
            chloride channel
  JOURNAL   Nature 588 (7837), 350-354 (2020)
   PUBMED   33149300
  REMARK    GeneRIF: Structures and pH-sensing mechanism of the
            proton-activated chloride channel.
REFERENCE   6  (bases 1 to 2469)
  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   7  (bases 1 to 2469)
  AUTHORS   Ullrich,F., Blin,S., Lazarow,K., Daubitz,T., von Kries,J.P. and
            Jentsch,T.J.
  TITLE     Identification of TMEM206 proteins as pore of PAORAC/ASOR
            acid-sensitive chloride channels
  JOURNAL   Elife 8, e49187 (2019)
   PUBMED   31318332
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2469)
  AUTHORS   Yang,J., Chen,J., Del Carmen Vitery,M., Osei-Owusu,J., Chu,J.,
            Yu,H., Sun,S. and Qiu,Z.
  TITLE     PAC, an evolutionarily conserved membrane protein, is a
            proton-activated chloride channel
  JOURNAL   Science 364 (6438), 395-399 (2019)
   PUBMED   31023925
  REMARK    GeneRIF: PAC (TMEM206) was indentified as being essential for the
            widely observed proton-activated Cl- (PAC) currents (ICl,H).
            GeneRIF: PACC1 encodes a new type of chloride channel activated by
            acid or proton; its wide expression suggests a broad role for this
            conserved chloride channel in physiological and pathological
            processes associated with acidic pH.
REFERENCE   9  (bases 1 to 2469)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   10 (bases 1 to 2469)
  AUTHORS   Teckchandani,A., Toida,N., Goodchild,J., Henderson,C., Watts,J.,
            Wollscheid,B. and Cooper,J.A.
  TITLE     Quantitative proteomics identifies a Dab2/integrin module
            regulating cell migration
  JOURNAL   J Cell Biol 186 (1), 99-111 (2009)
   PUBMED   19581412
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC411913.1, BC006320.2 and AL360091.28.
            
            On Jun 2, 2019 this sequence version replaced NM_018252.2.
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            5' CDS compared to variant 1. The resulting isoform (2) lacks an
            internal segment compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.186616.1, AK001736.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261455.9/ ENSP00000261455.4
            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
            1-2                 DC411913.1         40-41
            3-1923              BC006320.2         1-1921
            1924-2469           AL360091.28        79788-80333         c
FEATURES             Location/Qualifiers
     source          1..2469
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.3"
     gene            1..2469
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /note="proton activated chloride channel 1"
                     /db_xref="GeneID:55248"
                     /db_xref="HGNC:HGNC:25593"
                     /db_xref="MIM:618427"
     exon            1..165
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /inference="alignment:Splign:2.1.0"
     CDS             130..1182
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /note="isoform 2 is encoded by transcript variant 2;
                     transmembrane protein 206; proton-activated chloride
                     channel; acid-sensitive outwardly rectifying channel;
                     acid-sensitive outwardly-rectifying anion channel;
                     proton-activated outwardly rectifying anion channel"
                     /codon_start=1
                     /product="proton-activated chloride channel isoform 2"
                     /protein_id="NP_060722.2"
                     /db_xref="CCDS:CCDS1504.1"
                     /db_xref="GeneID:55248"
                     /db_xref="HGNC:HGNC:25593"
                     /db_xref="MIM:618427"
                     /translation="MIRQERSTSYQELSEELVQVVENSELADEQDKETVRVQGPGILP
                     GLDSESASSSIRFSKACLKNVFSVLLIFIYLLLMAVAVFLVYRTITDFREKLKHPVMS
                     VSYKEVDRYDAPGIALYPGQAQLLSCKHHYEVIPPLTSPGQPGDMNCTTQRINYTDPF
                     SNQTVKSALIVQGPREVKKRELVFLQFRLNKSSEDFSAIDYLLFSSFQEFLQSPNRVG
                     FMQACESAYSSWKFSGGFRTWVKMSLVKTKEEDGREAVEFRQETSVVNYIDQRPAAKK
                     SAQLFFVVFEWKDPFIQKVQDIVTANPWNTIALLCGAFLALFKAAEFAKLSIKWMIKI
                     RKRYLKRRGQATSHIS"
     exon            166..262
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /inference="alignment:Splign:2.1.0"
     exon            263..472
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /inference="alignment:Splign:2.1.0"
     exon            473..624
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /inference="alignment:Splign:2.1.0"
     exon            625..767
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /inference="alignment:Splign:2.1.0"
     exon            768..912
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /inference="alignment:Splign:2.1.0"
     exon            913..1020
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..2469
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1901..1906
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /note="hexamer: AATAAA"
     regulatory      1911..1916
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /note="hexamer: AATACA"
     polyA_site      1923
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /note="major polyA site"
     polyA_site      1937
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
     regulatory      2445..2450
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
                     /note="hexamer: ATTAAA"
     polyA_site      2469
                     /gene="PACC1"
                     /gene_synonym="ASOR; C1orf75; hPAC; hTMEM206; PAC; PAORAC;
                     TMEM206"
ORIGIN      
        1 ctctgggacg cccctccgga ccggtttcgc ctcgcggagc cggtaggtcc aggtgcagcg
       61 gccgcagtgc tgcgtccgtg cgccgcgggc tggggcggtc tcaggtgtgc cgaagctctg
      121 gtcagtgcca tgatccggca ggagcgctcc acatcctacc aggagctgag tgaggagttg
      181 gtccaggtgg ttgagaactc agagctggca gacgagcagg acaaggagac ggtcagagtc
      241 caaggtccgg gtatcttacc aggcctggac agcgagtccg cctccagcag catccgcttc
      301 agcaaggcct gcctgaagaa cgtcttctcg gtcctactca tcttcatcta cctgctgctc
      361 atggctgtgg ccgtcttcct ggtctaccgg accatcacag actttcgtga gaaactcaag
      421 caccctgtca tgtctgtgtc ttacaaggaa gtggatcgct atgatgcccc aggtattgcc
      481 ttgtaccccg gtcaggccca gttgctcagc tgtaagcacc attacgaggt cattcctcct
      541 ctgacaagcc ctggccagcc gggtgacatg aattgcacca cccagaggat caactacacg
      601 gaccccttct ccaatcagac tgtgaaatct gccctgattg tccaggggcc ccgggaagtg
      661 aaaaagcggg agctggtctt cctccagttc cgcctgaaca agagtagtga ggacttcagc
      721 gccattgatt acctcctctt ctcttctttc caggagttcc tgcaaagccc aaacagggta
      781 ggcttcatgc aggcctgtga gagtgcctat tccagctgga agttctctgg gggcttccgc
      841 acctgggtca agatgtcact ggtaaagacc aaggaggagg atgggcggga agcagtggag
      901 ttccggcagg agacaagtgt ggttaactac attgaccaga ggccagctgc caaaaaaagt
      961 gctcaattgt tttttgtggt ctttgaatgg aaagatcctt tcatccagaa agtccaagat
     1021 atagtcactg ccaatccttg gaacacaatt gctcttctct gtggcgcctt cttggcatta
     1081 tttaaagcag cagagtttgc caaactgagt ataaaatgga tgatcaaaat tagaaagaga
     1141 taccttaaaa gaagaggtca ggcaacgagc cacataagct gaagtcacct cgcgttgttt
     1201 agagaactgt ccacatcaat gggagctgtc atcacttcca ctttgtaaac ggagctatca
     1261 acaatcctgt actcacttga agaaatgggg ccttgctggg aggaacagca tgtaaaactg
     1321 gaacttctaa ccccgtccca aaagaggcgg tgtagagcct aatagaagag actaatggat
     1381 aaacctacaa gttatttaaa tatttaaatt attaataaac tttttaaaga gctggccaat
     1441 gacttttgaa tagggtttgt agaagatgcc tttcttcctg tttggttcat tgtattgtat
     1501 taggttaagc tctactaggg taatgaaggc tctacttttc actttttaaa agtggacaaa
     1561 agagtgtgat tttctttttc caaaaattcc tgagtatcaa gacgtgcagg tcatgctttg
     1621 gagcctatgc actgtacaca aaggcaaaac cctatgactt tggcatcatc tgccattgat
     1681 gtccagcctc tgacatgctc tttgatttgt taaatgttaa atgagacttt aaggctacta
     1741 gaaactagta attaagtttc ttaatggact gagtagccac ctacttgtcc ggctagaatg
     1801 tttgttgatg tatgagttta gattaacact caaaagcact aggacagatg tacatagaag
     1861 gtgcctactc attgtatttt gatgatttca ttaacaggta aataaaagtt aatacaaaag
     1921 gaacgagtgt gacaatatga atatctgctc aatcatcggg cacaattact ttcatttggt
     1981 gacttccaag gacaaaaagg tagtatgagt ctggactccc aagatggatc tgactcccaa
     2041 ggtatgttct aactgcttcc agggaagggt ttgttaggca tggcaactga tggcaggtgt
     2101 ccagaaagag tgacctggtg tccccgagga agctgggtta actctttact gtgtccacaa
     2161 aactacccat catatgagga aggggcatac gcagtgtgac cctcaaaaag cttttagcct
     2221 agcctttgac agaaatgagt atgcattaaa aaaaagtcta tttttcacat taaggttcta
     2281 aaaattgttt ccagagtttt aaattattta tgtgcctgtt gcttcaaaga ggacttggta
     2341 gcatttccta aattttgtaa tctggcttcc gataatccaa agggaataac tcaaatgtat
     2401 gaataggcat tttaaatggg aagaaactgt tttttggatg aatgattaaa agtgaactgt
     2461 ataaagaaa
//
