LOCUS       NM_004769               2053 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens acid sensing ion channel subunit 3 (ASIC3), transcript
            variant 1, mRNA.
ACCESSION   NM_004769
VERSION     NM_004769.4
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 2053)
  AUTHORS   Balboni,A., D'Angelo,C., Collura,N., Brusco,S., Di Berardino,C.,
            Targa,A., Massoti,B., Mastrangelo,E., Milani,M., Seneci,P.,
            Broccoli,V., Muzio,L., Galli,R. and Menegon,A.
  TITLE     Acid-sensing ion channel 3 is a new potential therapeutic target
            for the control of glioblastoma cancer stem cells growth
  JOURNAL   Sci Rep 14 (1), 20421 (2024)
   PUBMED   39227705
  REMARK    GeneRIF: Acid-sensing ion channel 3 is a new potential therapeutic
            target for the control of glioblastoma cancer stem cells growth.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2053)
  AUTHORS   Jacquot,F., Khoury,S., Labrum,B., Delanoe,K., Pidoux,L.,
            Barbier,J., Delay,L., Bayle,A., Aissouni,Y., Barriere,D.A.,
            Kultima,K., Freyhult,E., Hugo,A., Kosek,E., Ahmed,A.S., Jurczak,A.,
            Lingueglia,E., Svensson,C.I., Breuil,V., Ferreira,T., Marchand,F.
            and Deval,E.
  TITLE     Lysophosphatidylcholine 16:0 mediates chronic joint pain associated
            to rheumatic diseases through acid-sensing ion channel 3
  JOURNAL   Pain 163 (10), 1999-2013 (2022)
   PUBMED   35086123
  REMARK    GeneRIF: Lysophosphatidylcholine 16:0 mediates chronic joint pain
            associated to rheumatic diseases through acid-sensing ion channel
            3.
REFERENCE   3  (bases 1 to 2053)
  AUTHORS   Han,X., Zhang,Y., Lee,A., Li,Z., Gao,J., Wu,X., Zhao,J., Wang,H.,
            Chen,D., Zou,D. and Owyang,C.
  TITLE     Upregulation of acid sensing ion channels is associated with
            esophageal hypersensitivity in GERD
  JOURNAL   FASEB J 36 (1), e22083 (2022)
   PUBMED   34918385
  REMARK    GeneRIF: Upregulation of acid sensing ion channels is associated
            with esophageal hypersensitivity in GERD.
REFERENCE   4  (bases 1 to 2053)
  AUTHORS   Lottering,B. and Lin,Y.W.
  TITLE     TRPV1 Responses in the Cerebellum Lobules VI, VII, VIII Using
            Electroacupuncture Treatment for Chronic Pain and Depression
            Comorbidity in a Murine Model
  JOURNAL   Int J Mol Sci 22 (9), 5028 (2021)
   PUBMED   34068557
  REMARK    GeneRIF: TRPV1 Responses in the Cerebellum Lobules VI, VII, VIII
            Using Electroacupuncture Treatment for Chronic Pain and Depression
            Comorbidity in a Murine Model.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2053)
  AUTHORS   Ding,J., Zhang,R., Li,H., Ji,Q., Cheng,X., Thorne,R.F.,
            Hondermarck,H., Liu,X. and Shen,C.
  TITLE     ASIC1 and ASIC3 mediate cellular senescence of human nucleus
            pulposus mesenchymal stem cells during intervertebral disc
            degeneration
  JOURNAL   Aging (Albany NY) 13 (7), 10703-10723 (2021)
   PUBMED   33824228
  REMARK    GeneRIF: ASIC1 and ASIC3 mediate cellular senescence of human
            nucleus pulposus mesenchymal stem cells during intervertebral disc
            degeneration.
REFERENCE   6  (bases 1 to 2053)
  AUTHORS   Catarsi,S., Babinski,K. and Seguela,P.
  TITLE     Selective modulation of heteromeric ASIC proton-gated channels by
            neuropeptide FF
  JOURNAL   Neuropharmacology 41 (5), 592-600 (2001)
   PUBMED   11587714
REFERENCE   7  (bases 1 to 2053)
  AUTHORS   Babinski,K., Catarsi,S., Biagini,G. and Seguela,P.
  TITLE     Mammalian ASIC2a and ASIC3 subunits co-assemble into heteromeric
            proton-gated channels sensitive to Gd3+
  JOURNAL   J Biol Chem 275 (37), 28519-28525 (2000)
   PUBMED   10842183
REFERENCE   8  (bases 1 to 2053)
  AUTHORS   Babinski,K., Le,K.T. and Seguela,P.
  TITLE     Molecular cloning and regional distribution of a human proton
            receptor subunit with biphasic functional properties
  JOURNAL   J Neurochem 72 (1), 51-57 (1999)
   PUBMED   9886053
REFERENCE   9  (bases 1 to 2053)
  AUTHORS   de Weille,J.R., Bassilana,F., Lazdunski,M. and Waldmann,R.
  TITLE     Identification, functional expression and chromosomal localisation
            of a sustained human proton-gated cation channel
  JOURNAL   FEBS Lett 433 (3), 257-260 (1998)
   PUBMED   9744806
REFERENCE   10 (bases 1 to 2053)
  AUTHORS   Ishibashi,K. and Marumo,F.
  TITLE     Molecular cloning of a DEG/ENaC sodium channel cDNA from human
            testis
  JOURNAL   Biochem Biophys Res Commun 245 (2), 589-593 (1998)
   PUBMED   9571199
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313926.1 and AF095897.1.
            
            On Nov 23, 2018 this sequence version replaced NM_004769.3.
            
            Summary: This gene encodes a member of the degenerin/epithelial
            sodium channel (DEG/ENaC) superfamily. The members of this family
            are amiloride-sensitive sodium channels that contain intracellular
            N and C termini, two hydrophobic transmembrane regions, and a large
            extracellular loop, which has many cysteine residues with conserved
            spacing. The member encoded by this gene is an acid sensor and may
            play an important role in the detection of lasting pH changes. In
            addition, a heteromeric association between this member and
            acid-sensing (proton-gated) ion channel 2 has been observed as
            proton-gated channels sensitive to gadolinium. Alternatively
            spliced transcript variants have been described. [provided by
            RefSeq, Feb 2012].
            
            Transcript Variant: This variant (1) uses an alternate splice site
            in the 3' coding region, compared to variant 2. The resulting
            protein (isoform a) has a shorter and distinct C-terminus, compared
            to isoform b.
            
            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 :: AF095897.1, AB010575.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000349064.10/ ENSP00000344838.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-344               AK313926.1         240-583
            345-2053            AF095897.1         17-1725
FEATURES             Location/Qualifiers
     source          1..2053
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..2053
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /note="acid sensing ion channel subunit 3"
                     /db_xref="GeneID:9311"
                     /db_xref="HGNC:HGNC:101"
                     /db_xref="MIM:611741"
     exon            1..889
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             356..1951
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /note="isoform a is encoded by transcript variant 1;
                     testis sodium channel 1; proton-gated cation channel
                     subunit; modulatory subunit of ASIC2a; amiloride-sensitive
                     cation channel 3, testis; acid-sensing ion channel 3;
                     neuronal amiloride-sensitive cation channel 3; acid
                     sensing (proton gated) ion channel 3"
                     /codon_start=1
                     /product="acid-sensing ion channel 3 isoform a"
                     /protein_id="NP_004760.1"
                     /db_xref="CCDS:CCDS5916.1"
                     /db_xref="GeneID:9311"
                     /db_xref="HGNC:HGNC:101"
                     /db_xref="MIM:611741"
                     /translation="MKPTSGPEEARRPASDIRVFASNCSMHGLGHVFGPGSLSLRRGM
                     WAAAVVLSVATFLYQVAERVRYYREFHHQTALDERESHRLIFPAVTLCNINPLRRSRL
                     TPNDLHWAGSALLGLDPAEHAAFLRALGRPPAPPGFMPSPTFDMAQLYARAGHSLDDM
                     LLDCRFRGQPCGPENFTTIFTRMGKCYTFNSGADGAELLTTTRGGMGNGLDIMLDVQQ
                     EEYLPVWRDNEETPFEVGIRVQIHSQEEPPIIDQLGLGVSPGYQTFVSCQQQQLSFLP
                     PPWGDCSSASLNPNYEPEPSDPLGSPSPSPSPPYTLMGCRLACETRYVARKCGCRMVY
                     MPGDVPVCSPQQYKNCAHPAIDAMLRKDSCACPNPCASTRYAKELSMVRIPSRAAARF
                     LARKLNRSEAYIAENVLALDIFFEALNYETVEQKKAYEMSELLGDIGGQMGLFIGASL
                     LTILEILDYLCEVFRDKVLGYFWNRQHSQRHSSTNLLQEGLGSHRTQVPHLSLGPRPP
                     TPPCAVTKTLSASHRTCYLVTQL"
     exon            890..1040
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..1168
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1364
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1365..1421
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1422..1569
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1570..1661
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1662..1741
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1742..1813
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1814..1872
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1873..2053
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2034..2039
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /note="hexamer: AATAAA"
     polyA_site      2053
                     /gene="ASIC3"
                     /gene_synonym="ACCN3; DRASIC; SLNAC1; TNaC1"
                     /note="major polyA site"
ORIGIN      
        1 ctctgcagca gcgccggctc agcaccgccg gctcagcacc gctccgcagc ccctgcctgc
       61 cacggtcagc tacgtcccac ctggtctgct gcggagtccc cagcccagtg cctagcccag
      121 tggagccacc gcctgttcct cgggaaggaa cagtgggacc tgaccggcca gatcacctcc
      181 tccaatcctg ccaggctagt gcctccctgc cttccaacct tggctgtctc ccaccctctc
      241 ttctcctctc cttgcctggc ctcctgaatc ctatcttagc ctccttagcc ccctgactga
      301 ctctctctcg cttcttccaa gcctctgtag ctggttccgc tcctgggttc tggccatgaa
      361 gcccacctca ggcccagagg aggcccggcg gccagcctcg gacatccgcg tgttcgccag
      421 caactgctcg atgcacgggc tgggccacgt cttcgggcca ggcagcctga gcctgcgccg
      481 ggggatgtgg gcagcggccg tggtcctgtc agtggccacc ttcctctacc aggtggctga
      541 gagggtgcgc tactacaggg agttccacca ccagactgcc ctggatgagc gagaaagcca
      601 ccggctcatc ttcccggctg tcaccctgtg caacatcaac ccactgcgcc gctcgcgcct
      661 aacgcccaac gacctgcact gggctgggtc tgcgctgctg ggcctggatc ccgcagagca
      721 cgccgccttc ctgcgcgccc tgggccggcc ccctgcaccg cccggcttca tgcccagtcc
      781 cacctttgac atggcgcaac tctatgcccg tgctgggcac tccctggatg acatgctgct
      841 ggactgtcgc ttccgtggcc aaccttgtgg gcctgagaac ttcaccacga tcttcacccg
      901 gatgggaaag tgctacacat ttaactctgg cgctgatggg gcagagctgc tcaccactac
      961 taggggtggc atgggcaatg ggctggacat catgctggac gtgcagcagg aggaatatct
     1021 acctgtgtgg agggacaatg aggagacccc gtttgaggtg gggatccgag tgcagatcca
     1081 cagccaggag gagccgccca tcatcgatca gctgggcttg ggggtgtccc cgggctacca
     1141 gacctttgtt tcttgccagc agcagcagct gagcttcctg ccaccgccct ggggcgattg
     1201 cagttcagca tctctgaacc ccaactatga gccagagccc tctgatcccc taggctcccc
     1261 cagccccagc cccagccctc cctataccct tatggggtgt cgcctggcct gcgaaacccg
     1321 ctacgtggct cggaagtgcg gctgccgaat ggtgtacatg ccaggcgacg tgccagtgtg
     1381 cagcccccag cagtacaaga actgtgccca cccggccata gatgccatgc ttcgcaagga
     1441 ctcgtgcgcc tgccccaacc cgtgcgccag cacgcgctac gccaaggagc tctccatggt
     1501 gcggatcccg agccgcgccg ccgcgcgctt cctggcccgg aagctcaacc gcagcgaggc
     1561 ctacatcgcg gagaacgtgc tggccctgga catcttcttt gaggccctca actatgagac
     1621 cgtggagcag aagaaggcct atgagatgtc agagctgctt ggtgacattg ggggccagat
     1681 ggggctgttc atcggggcca gcctgctcac catcctcgag atcctagact acctctgtga
     1741 ggtgttccga gacaaggtcc tgggatattt ctggaaccga cagcactccc aaaggcactc
     1801 cagcaccaat ctgcttcagg aagggctggg cagccatcga acccaagttc cccacctcag
     1861 cctgggcccc agacctccca cccctccctg tgccgtcacc aagactctct ccgcctccca
     1921 ccgcacctgc taccttgtca cacagctcta gacctgctgt ctgtgtcctc ggagccccgc
     1981 cctgacatcc tggacatgcc tagcctgcac gtagcttttc cgtcttcacc ccaaataaag
     2041 tcctaatgca tca
//
