LOCUS       NM_018674               2589 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens acid sensing ion channel subunit family member 4
            (ASIC4), transcript variant 1, mRNA.
ACCESSION   NM_018674 XM_005246671
VERSION     NM_018674.6
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 2589)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2589)
  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   3  (bases 1 to 2589)
  AUTHORS   Schwartz,V., Friedrich,K., Polleichtner,G. and Grunder,S.
  TITLE     Acid-sensing ion channel (ASIC) 4 predominantly localizes to an
            early endosome-related organelle upon heterologous expression
  JOURNAL   Sci Rep 5, 18242 (2015)
   PUBMED   26667795
  REMARK    GeneRIF: Acid-sensing ion channel (ASIC) 4 predominantly localizes
            to an early endosome-related organelle upon heterologous expression
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2589)
  AUTHORS   Donier,E., Rugiero,F., Jacob,C. and Wood,J.N.
  TITLE     Regulation of ASIC activity by ASIC4--new insights into ASIC
            channel function revealed by a yeast two-hybrid assay
  JOURNAL   Eur J Neurosci 28 (1), 74-86 (2008)
   PUBMED   18662336
  REMARK    GeneRIF: Data show that transfected ASIC4 is targeted to the plasma
            membrane in CHO-K1 cells, where it associates with ASIC1a and
            downregulates exogenous ASIC1a expression.
REFERENCE   5  (bases 1 to 2589)
  AUTHORS   Grunder,S., Geisler,H.S., Rainier,S. and Fink,J.K.
  TITLE     Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic
            organisation, and evaluation as a candidate for paroxysmal dystonia
  JOURNAL   Eur J Hum Genet 9 (9), 672-676 (2001)
   PUBMED   11571555
REFERENCE   6  (bases 1 to 2589)
  AUTHORS   Grunder,S., Geissler,H.S., Bassler,E.L. and Ruppersberg,J.P.
  TITLE     A new member of acid-sensing ion channels from pituitary gland
  JOURNAL   Neuroreport 11 (8), 1607-1611 (2000)
   PUBMED   10852210
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC053503.7 and AC009955.4.
            
            On Apr 21, 2020 this sequence version replaced NM_018674.5.
            
            Summary: This gene belongs to the superfamily of acid-sensing ion
            channels, which are proton-gated, amiloride-sensitive sodium
            channels. These channels have been implicated in synaptic
            transmission, pain perception as well as mechanoperception. This
            gene is predominantly expressed in the pituitary gland, and was
            considered a candidate for paroxysmal dystonic choreoathetosis
            (PDC), a movement disorder, however, no correlation was found
            between mutations in this gene and PDC. [provided by RefSeq, Feb
            2012].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.200303.1,
                                           SRR1803613.203146.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358078.5/ ENSP00000350786.5
            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
            1-825               AC053503.7         172286-173110
            826-970             AC009955.4         2647-2791
            971-1098            AC009955.4         2890-3017
            1099-1261           AC009955.4         3204-3366
            1262-1318           AC009955.4         3772-3828
            1319-1472           AC009955.4         6060-6213
            1473-1564           AC009955.4         7955-8046
            1565-1644           AC009955.4         8131-8210
            1645-1749           AC009955.4         8521-8625
            1750-2589           AC009955.4         8822-9661
FEATURES             Location/Qualifiers
     source          1..2589
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..2589
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /note="acid sensing ion channel subunit family member 4"
                     /db_xref="GeneID:55515"
                     /db_xref="HGNC:HGNC:21263"
                     /db_xref="MIM:606715"
     exon            1..825
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /inference="alignment:Splign:2.1.0"
     CDS             244..1863
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     acid-sensing ion channel 4; brain sodium channel 4;
                     amiloride-sensitive cation channel family member 4,
                     pituitary; acid-sensing (proton-gated) ion channel family
                     member 4; amiloride-sensitive cation channel 4, pituitary;
                     acid sensing ion channel family member 4"
                     /codon_start=1
                     /product="acid-sensing ion channel 4 isoform 1"
                     /protein_id="NP_061144.4"
                     /db_xref="CCDS:CCDS33384.2"
                     /db_xref="GeneID:55515"
                     /db_xref="HGNC:HGNC:21263"
                     /db_xref="MIM:606715"
                     /translation="MPIEIVCKIKFAEEDAKPKEKEAGDEQSLLGAVAPGAAPRDLAT
                     FASTSTLHGLGRACGPGPHGLRRTLWALALLTSLAAFLYQAAGLARGYLTRPHLVAMD
                     PAAPAPVAGFPAVTLCNINRFRHSALSDADIFHLANLTGLPPKDRDGHRAAGLRYPEP
                     DMVDILNRTGHQLADMLKSCNFSGHHCSASNFSVVYTRYGKCYTFNADPRSSLPSRAG
                     GMGSGLEIMLDIQQEEYLPIWRETNETSFEAGIRVQIHSQEEPPYIHQLGFGVSPGFQ
                     TFVSCQEQRLTYLPQPWGNCRAESELREPELQGYSAYSVSACRLRCEKEAVLQRCHCR
                     MVHMPGNETICPPNIYIECADHTLDSLGGGPEGPCFCPTPCNLTRYGKEISMVRIPNR
                     GSARYLARKYNRNETYIRENFLVLDVFFEALTSEAMEQRAAYGLSALLGDLGGQMGLF
                     IGASILTLLEILDYIYEVSWDRLKRVWRRPKTPLRTSTGGISTLGLQELKEQSPCPSR
                     GRVEGGGVSSLLPNHHHPHGPPGGLFEDFAC"
     exon            826..970
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1098
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1261
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1262..1318
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1319..1472
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1473..1564
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..1644
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1645..1749
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1750..2589
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2571..2576
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /note="hexamer: AATAAA"
     polyA_site      2589
                     /gene="ASIC4"
                     /gene_synonym="ACCN4; BNAC4"
                     /note="major polyA site"
ORIGIN      
        1 gaggagagag acaagcggca gcagaggcag cagcggcaga ggcagcacca gggctgcgga
       61 gctgctggga gtgggagtga ctcccccacc tcgggccccc accctgtccc tgtcctcttc
      121 ccgcttgccc tgagtttaga agagcagccg ctgccaccac tgccactcgg gagggcacca
      181 gggctgctgg ctagggaggg acagggcagg gaggctctgg ccagtcccag cagccgggga
      241 cagatgccga tcgagattgt gtgcaaaatc aaatttgctg aggaggatgc gaaacccaag
      301 gagaaggagg caggggatga gcagagcctc ctcggggctg ttgcccctgg agcagccccc
      361 cgagacctgg ccacctttgc cagcaccagc accctgcatg gactgggccg ggcctgtggc
      421 ccaggccccc acggactgcg cagaaccctg tgggcactgg ccctactcac ctcgctggct
      481 gccttcctgt accaggcggc tggcctggcc cggggctacc tgacccggcc tcacctggtg
      541 gcaatggacc ccgctgcccc agccccagtg gcgggcttcc cggctgtcac cctctgcaat
      601 atcaaccgct tccggcattc ggcactcagc gatgccgaca tcttccacct ggccaatctg
      661 acagggctgc cccccaaaga ccgggatggg caccgtgcgg ctggcctgcg ctacccagag
      721 cctgacatgg tagacatcct caaccgcact ggccaccagc tcgccgacat gcttaagagc
      781 tgcaacttca gtgggcatca ctgctccgcc agcaacttct ctgtggtcta tactcgctat
      841 gggaagtgtt acaccttcaa cgcggacccg cggagctcgc tgcccagccg ggcagggggc
      901 atgggcagtg gcctggagat catgctggac atccagcagg aggagtacct gcccatctgg
      961 agggagacaa atgagacgtc gtttgaggca ggtattcggg tgcagatcca cagccaggag
     1021 gagccgccct acatccacca gctggggttc ggggtgtccc caggcttcca gacctttgtg
     1081 tcctgccagg aacagcggct gacctacctg ccccagccct ggggcaactg ccgcgcagag
     1141 agtgagctca gggagcctga gcttcagggc tactcggcct acagtgtgtc tgcctgccgg
     1201 ctgcgctgtg aaaaggaggc cgtgcttcag cgctgccact gccggatggt gcacatgcca
     1261 ggcaatgaga ccatctgccc accaaatatc tacatcgagt gtgcagacca cacactggac
     1321 tccctgggtg ggggccctga gggcccgtgc ttctgcccca ccccctgcaa cctgacacgc
     1381 tatgggaaag agatctccat ggtcaggatc cccaacaggg gctcagcccg gtacctggcg
     1441 aggaagtaca accgcaacga gacctacata cgggagaact tcctggtcct agatgtcttc
     1501 tttgaggccc tgacctctga agccatggag cagcgagcag cctatggcct gtcagccctg
     1561 ctgggagacc tcgggggaca gatgggcctg ttcattgggg ccagcatcct cacgttgctg
     1621 gagatcctcg actacatcta tgaggtgtcc tgggatcgac tgaagcgggt atggaggcgt
     1681 cccaagaccc ccctgcggac ctccactggg ggcatctcca ctttggggct tcaggagctg
     1741 aaggaacaga gtccctgccc gagccggggc cgagtggagg gtgggggggt cagcagtctg
     1801 ctccccaatc accaccaccc ccacggtccc ccaggaggtc tctttgaaga ttttgcttgc
     1861 taggacggtg ctgtgactga aaggacccag gagtctggga cccctcctgg gatccccagc
     1921 acattctcct gctcctggga gaggcctggg ggcggtgctc actgggaggg ccaggactca
     1981 gttcctgctc tcatcctccc ctgccctgat gtcagctgct ttgcacaaag gtccttcttg
     2041 tccacacccc ttatccccag gctggtgccc cgggagggct ggagaccagg ccatgggccc
     2101 tcacggagag gaagggaagg aaggagaggg agggggagga tagagcccat cccagccggg
     2161 gagggggagc cctctgtaca tttgtaaata tttagggaaa gccgggtggg gggaggggat
     2221 acagatgtag aaggtgggta gggctacagg ggtgggtgat ttagggacag ccagggtccc
     2281 agccccaatg tcagcaggat agggagagcc ccaggactca ggagtgctgg gctggtccta
     2341 cttcctgccc ctctccaggc ccagctcccc tcttggcagg gggagaggat ggcccagcag
     2401 gcctggccca gctcccagtt ccccctgcac cagccccacc cctagagtcc cttctatagg
     2461 gagggggcag gagaccttcc agacttcggc tgagcttgga gggtgggaag ggagccttct
     2521 cagtcctctc tccctccagt ctgattttat aaagtgctga cgagattggg aataaagagg
     2581 cataaagaa
//
