LOCUS       NM_001127244            4492 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens leucine rich repeat containing 8 VRAC subunit A
            (LRRC8A), transcript variant 1, mRNA.
ACCESSION   NM_001127244
VERSION     NM_001127244.2
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 4492)
  AUTHORS   Zhang,H., Liu,R., Jing,Z., Li,C., Fan,W., Li,H., Li,H., Ren,J.,
            Cui,S., Zhao,W., Yu,L., Bai,Y., Liu,S., Fang,C., Yang,W., Wei,Y.,
            Li,L. and Peng,S.
  TITLE     LRRC8A as a central mediator promotes colon cancer metastasis by
            regulating PIP5K1B/PIP2 pathway
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (4), 167066 (2024)
   PUBMED   38350542
  REMARK    GeneRIF: LRRC8A as a central mediator promotes colon cancer
            metastasis by regulating PIP5K1B/PIP2 pathway.
REFERENCE   2  (bases 1 to 4492)
  AUTHORS   Yang,J. and Qiu,Z.
  TITLE     Swell1 channel-mediated tonic GABA release from astrocytes
            modulates cocaine reward
  JOURNAL   Neuropsychopharmacology 49 (1), 327-328 (2024)
   PUBMED   37524750
  REMARK    GeneRIF: Swell1 channel-mediated tonic GABA release from astrocytes
            modulates cocaine reward.
REFERENCE   3  (bases 1 to 4492)
  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   4  (bases 1 to 4492)
  AUTHORS   Liu,H., Polovitskaya,M.M., Yang,L., Li,M., Li,H., Han,Z., Wu,J.,
            Zhang,Q., Jentsch,T.J. and Liao,J.
  TITLE     Structural insights into anion selectivity and activation mechanism
            of LRRC8 volume-regulated anion channels
  JOURNAL   Cell Rep 42 (8), 112926 (2023)
   PUBMED   37543949
  REMARK    GeneRIF: Structural insights into anion selectivity and activation
            mechanism of LRRC8 volume-regulated anion channels.
REFERENCE   5  (bases 1 to 4492)
  AUTHORS   Zhang,H., Cui,S., Jing,Z., Fu,G., Liu,R., Zhao,W., Xu,L., Yu,L.,
            Bai,Y., Lv,C., Wu,M., Wei,Y., Li,L. and Peng,S.
  TITLE     LRRC8A is responsible for exosome biogenesis and volume regulation
            in colon cancer cells
  JOURNAL   Biochem J 480 (9), 701-713 (2023)
   PUBMED   37129855
  REMARK    GeneRIF: LRRC8A is responsible for exosome biogenesis and volume
            regulation in colon cancer cells.
REFERENCE   6  (bases 1 to 4492)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (bases 1 to 4492)
  AUTHORS   Smits,G. and Kajava,A.V.
  TITLE     LRRC8 extracellular domain is composed of 17 leucine-rich repeats
  JOURNAL   Mol Immunol 41 (5), 561-562 (2004)
   PUBMED   15183935
REFERENCE   8  (bases 1 to 4492)
  AUTHORS   Kubota,K., Kim,J.Y., Sawada,A., Tokimasa,S., Fujisaki,H.,
            Matsuda-Hashii,Y., Ozono,K. and Hara,J.
  TITLE     LRRC8 involved in B cell development belongs to a novel family of
            leucine-rich repeat proteins
  JOURNAL   FEBS Lett 564 (1-2), 147-152 (2004)
   PUBMED   15094057
  REMARK    GeneRIF: identified four genes, named TA-LRRP, AD158, LRRC5, and
            FLJ23420, as unknown LRRC8-like genes
REFERENCE   9  (bases 1 to 4492)
  AUTHORS   Sawada,A., Takihara,Y., Kim,J.Y., Matsuda-Hashii,Y., Tokimasa,S.,
            Fujisaki,H., Kubota,K., Endo,H., Onodera,T., Ohta,H., Ozono,K. and
            Hara,J.
  TITLE     A congenital mutation of the novel gene LRRC8 causes
            agammaglobulinemia in humans
  JOURNAL   J Clin Invest 112 (11), 1707-1713 (2003)
   PUBMED   14660746
  REMARK    GeneRIF: LRRC8 is required for B cell development.
REFERENCE   10 (bases 1 to 4492)
  AUTHORS   Conley,M.E.
  TITLE     Genes required for B cell development
  JOURNAL   J Clin Invest 112 (11), 1636-1638 (2003)
   PUBMED   14660738
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL672142.9.
            
            On Aug 13, 2020 this sequence version replaced NM_001127244.1.
            
            Summary: This gene encodes a protein belonging to the leucine-rich
            repeat family of proteins, which are involved in diverse biological
            processes, including cell adhesion, cellular trafficking, and
            hormone-receptor interactions. This family member is a putative
            four-pass transmembrane protein that plays a role in B cell
            development. Defects in this gene cause autosomal dominant
            non-Bruton type agammaglobulinemia, an immunodeficiency disease
            resulting from defects in B cell maturation. Multiple alternatively
            spliced transcript variants, which encode the same protein, have
            been identified for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. All variants (1-3) encode the same protein.
            
            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 :: AK289842.1, SRR14038197.2064525.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-276               AL672142.9         18556-18831
            277-383             AL672142.9         21937-22043
            384-2548            AL672142.9         43079-45243
            2549-4492           AL672142.9         52018-53961
FEATURES             Location/Qualifiers
     source          1..4492
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..4492
                     /gene="LRRC8A"
                     /gene_synonym="AGM5; HsLRRC8A; LRRC8; SWELL1"
                     /note="leucine rich repeat containing 8 VRAC subunit A"
                     /db_xref="GeneID:56262"
                     /db_xref="HGNC:HGNC:19027"
                     /db_xref="MIM:608360"
     exon            1..276
                     /gene="LRRC8A"
                     /gene_synonym="AGM5; HsLRRC8A; LRRC8; SWELL1"
                     /inference="alignment:Splign:2.1.0"
     exon            277..383
                     /gene="LRRC8A"
                     /gene_synonym="AGM5; HsLRRC8A; LRRC8; SWELL1"
                     /inference="alignment:Splign:2.1.0"
     exon            384..2548
                     /gene="LRRC8A"
                     /gene_synonym="AGM5; HsLRRC8A; LRRC8; SWELL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             392..2824
                     /gene="LRRC8A"
                     /gene_synonym="AGM5; HsLRRC8A; LRRC8; SWELL1"
                     /note="swelling protein 1; leucine-rich repeat-containing
                     protein 8A; leucine rich repeat containing 8 family member
                     A"
                     /codon_start=1
                     /product="volume-regulated anion channel subunit LRRC8A"
                     /protein_id="NP_001120716.1"
                     /db_xref="CCDS:CCDS35155.1"
                     /db_xref="GeneID:56262"
                     /db_xref="HGNC:HGNC:19027"
                     /db_xref="MIM:608360"
                     /translation="MIPVTELRYFADTQPAYRILKPWWDVFTDYISIVMLMIAVFGGT
                     LQVTQDKMICLPCKWVTKDSCNDSFRGWAAPGPEPTYPNSTILPTPDTGPTGIKYDLD
                     RHQYNYVDAVCYENRLHWFAKYFPYLVLLHTLIFLACSNFWFKFPRTSSKLEHFVSIL
                     LKCFDSPWTTRALSETVVEESDPKPAFSKMNGSMDKKSSTVSEDVEATVPMLQRTKSR
                     IEQGIVDRSETGVLDKKEGEQAKALFEKVKKFRTHVEEGDIVYRLYMRQTIIKVIKFI
                     LIICYTVYYVHNIKFDVDCTVDIESLTGYRTYRCAHPLATLFKILASFYISLVIFYGL
                     ICMYTLWWMLRRSLKKYSFESIREESSYSDIPDVKNDFAFMLHLIDQYDPLYSKRFAV
                     FLSEVSENKLRQLNLNNEWTLDKLRQRLTKNAQDKLELHLFMLSGIPDTVFDLVELEV
                     LKLELIPDVTIPPSIAQLTGLKELWLYHTAAKIEAPALAFLRENLRALHIKFTDIKEI
                     PLWIYSLKTLEELHLTGNLSAENNRYIVIDGLRELKRLKVLRLKSNLSKLPQVVTDVG
                     VHLQKLSINNEGTKLIVLNSLKKMANLTELELIRCDLERIPHSIFSLHNLQEIDLKDN
                     NLKTIEEIISFQHLHRLTCLKLWYNHIAYIPIQIGNLTNLERLYLNRNKIEKIPTQLF
                     YCRKLRYLDLSHNNLTFLPADIGLLQNLQNLAITANRIETLPPELFQCRKLRALHLGN
                     NVLQSLPSRVGELTNLTQIELRGNRLECLPVELGECPLLKRSGLVVEEDLFNTLPPEV
                     KERLWRADKEQA"
     exon            2549..4492
                     /gene="LRRC8A"
                     /gene_synonym="AGM5; HsLRRC8A; LRRC8; SWELL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4473..4478
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC8A"
                     /gene_synonym="AGM5; HsLRRC8A; LRRC8; SWELL1"
                     /note="hexamer: AATAAA"
     polyA_site      4492
                     /gene="LRRC8A"
                     /gene_synonym="AGM5; HsLRRC8A; LRRC8; SWELL1"
                     /note="major polyA site"
ORIGIN      
        1 gccatttctt tttcaaagat ttccttagct gtcttctcct gagttcctgg tccccttctc
       61 ttcccttgca cccctccttc ctatcgttcc gatgggggca gtgccctgac ttgggggcag
      121 gatccccggc taggctcttg gggcctttct gggatgggat atttgggaag accggtccgg
      181 aatctaagaa cccagaccct gtcccagtcc tgtgcattca ggtgggcccg agggcgaggc
      241 gagatccagt gaggtccagg cctggtgcag ccctagggag gcagcgtcca tggagcaaaa
      301 ggaatgccag gatcctgcac aggcagacgc gggccagcct cagcaccgac agccgacgcg
      361 cagatagcag agccatcctt ggggttgaac catgattccg gtgacagagc tccgctactt
      421 tgcggacacg cagccagcat accggatcct gaagccgtgg tgggatgtgt tcacagacta
      481 catctctatc gtcatgctga tgattgccgt cttcgggggg acgctgcagg tcacccaaga
      541 caagatgatc tgcctgcctt gtaagtgggt caccaaggac tcctgcaatg attcgttccg
      601 gggctgggca gcccctggcc cggagcccac ctaccccaac tccaccattc tgccgacccc
      661 tgacacgggc cccacaggca tcaagtatga cctggaccgg caccagtaca actacgtgga
      721 cgctgtgtgc tatgagaacc gactgcactg gtttgccaag tacttcccct acctggtgct
      781 tctgcacacg ctcatcttcc tggcctgcag caacttctgg ttcaaattcc cgcgcaccag
      841 ctcgaagctg gagcactttg tgtctatcct gctgaagtgc ttcgactcgc cctggaccac
      901 gagggccctg tcggagacag tggtggagga gagcgacccc aagccggcct tcagcaagat
      961 gaatgggtcc atggacaaaa agtcatcgac cgtcagtgag gacgtggagg ccaccgtgcc
     1021 catgctgcag cggaccaagt cacggatcga gcagggtatc gtggaccgct cagagacggg
     1081 cgtgctggac aagaaggagg gggagcaagc caaggcgctg tttgagaagg tgaagaagtt
     1141 ccggacccat gtggaggagg gggacattgt gtaccgcctc tacatgcggc agaccatcat
     1201 caaggtgatc aagttcatcc tcatcatctg ctacaccgtc tactacgtgc acaacatcaa
     1261 gttcgacgtg gactgcaccg tggacattga gagcctgacg ggctaccgca cctaccgctg
     1321 tgcccacccc ctggccacac tcttcaagat cctggcgtcc ttctacatca gcctagtcat
     1381 cttctacggc ctcatctgca tgtatacact gtggtggatg ctacggcgct ccctcaagaa
     1441 gtactcgttt gagtcgatcc gtgaggagag cagctacagc gacatccccg acgtcaagaa
     1501 cgacttcgcc ttcatgctgc acctcattga ccaatacgac ccgctctact ccaagcgctt
     1561 cgccgtcttc ctgtcggagg tgagtgagaa caagctgcgg cagctgaacc tcaacaacga
     1621 gtggacgctg gacaagctcc ggcagcggct caccaagaac gcgcaggaca agctggagct
     1681 gcacctgttc atgctcagtg gcatccctga cactgtgttt gacctggtgg agctggaggt
     1741 cctcaagctg gagctgatcc ccgacgtgac catcccgccc agcattgccc agctcacggg
     1801 cctcaaggag ctgtggctct accacacagc ggccaagatt gaagcgcccg cgctggcctt
     1861 cctgcgtgag aacctgcggg cgctgcacat caagttcacc gacatcaagg agatcccgct
     1921 gtggatctat agcctgaaga cactggagga gctgcacctg acgggcaacc tgagcgcgga
     1981 gaacaaccgc tacatcgtca tcgacgggct gcgggagctc aaacgcctca aggtgctgcg
     2041 gctcaagagc aacctaagca agctgccaca ggtggtcaca gatgtgggcg tgcacctgca
     2101 gaagctgtcc atcaacaatg agggcaccaa gctcatcgtc ctcaacagcc tcaagaagat
     2161 ggcgaacctg actgagctgg agctgatccg ctgtgacctg gagcgcatcc cccactccat
     2221 cttcagcctc cacaacctgc aggagattga cctcaaggac aacaacctca agaccatcga
     2281 ggagatcatc agcttccagc acctgcaccg cctcacctgc cttaagctgt ggtacaacca
     2341 catcgcctac atccccatcc agatcggcaa cctcaccaac ctggagcgcc tctacctgaa
     2401 ccgcaacaag atcgagaaga tccccaccca gctcttctac tgccgcaagc tgcgctacct
     2461 ggacctcagc cacaacaacc tgaccttcct ccctgccgac atcggcctcc tgcagaacct
     2521 ccagaaccta gccatcacgg ccaaccggat cgagacgctc cctccggagc tcttccagtg
     2581 ccggaagctg cgggccctgc acctgggcaa caacgtgctg cagtcactgc cctccagggt
     2641 gggcgagctg accaacctga cgcagatcga gctgcggggc aaccggctgg agtgcctgcc
     2701 tgtggagctg ggcgagtgcc cactgctcaa gcgcagcggc ttggtggtgg aggaggacct
     2761 gttcaacaca ctgccacccg aggtgaagga gcggctgtgg agggctgaca aggagcaggc
     2821 ctgagcgagg ccggcccagc acagcaagca gcaggaccgc tgcccagtcc tcaggcccgg
     2881 aggggcaggc ctagcttctc ccagaactcc cggacagcca ggacagcctc gtggctgggc
     2941 aggagcctgg ggccgcttgt gagtcaggcc agagcgagag gacagtatct gtggggctgg
     3001 ccccttttct ccctctgaga ctcacgtccc ccagggcaag tgcttgtgga ggagagcaag
     3061 tctcaagagc gcagtatttg gataatcagg gtctcctccc tggaggccag ctctgcccca
     3121 ggggctgagc tgccaccaga ggtcctggga ccctcacttt agttcttggt atttattttt
     3181 ctccatctcc cacctccttc atccagataa cttatacatt cccaagaaag ttcagcccag
     3241 atggaaggtg ttcagggaaa ggtgggctgc cttttcccct tgtccttatt tagcgatgcc
     3301 gccgggcatt taacacccac ctggacttca gcagagtggt ccggggcgaa ccagccatgg
     3361 gacggtcacc cagcagtgcc gggctgggct ctgcggtgcg gtccacggga gagcaggcct
     3421 ccagctggaa aggccaggcc tggagcttgc ctcttcagta tttgtggcag ttttagtttt
     3481 ttgttttttt ttttttaatc aaaaaacaat ttttttaaaa aaaaagcttt gaaaatggat
     3541 ggtttgggta ttaaaaagaa aaaaaaaact taaaaaaaaa aagacactaa cggccagtga
     3601 gttggagtct cagggcaggg tggcagtttc ccttgagcaa agcagccaga cgttgaactg
     3661 tgtttccttt ccctgggcgc agggtgcagg gtgtcttccg gatctggtgt gaccttggtc
     3721 caggagttct atttgttcct ggggagggag gtttttttgt ttgttttttg ggtttttttg
     3781 gtgtcttgtt ttctttctcc tccatgtgtc ttggcaggca ctcatttctg tggctgtcgg
     3841 ccagagggaa tgttctggag ctgccaagga gggaggagac tcgggttggc taatccccgg
     3901 atgaacggtg ctccattcgc acctcccctc ctcgtgcctg ccctgcctct ccacgcacag
     3961 tgttaaggag ccaagaggag ccacttcgcc cagactttgt ttccccaccg cctgcggcat
     4021 gggtgtgtcc agtgccaccg ctggcctccg ctgcttccat cagccctgtc accacctggt
     4081 ccttcatgaa gagcagacac ttagaggctg gtcgggaatg gggaggtcgc ccctgggagg
     4141 gcaggcgttg gttccaagcc ggttcccgtc cctggcgcct ggagtgcaca cagcccagtc
     4201 ggcacctggt ggctggaagc caccctgctt tagatcactc gggtccccac cttagaaggg
     4261 tccccgcctt agatcaatca cgtggacact aaggcacgtt ttagagtctc ttgtcttaat
     4321 gattatgtcc atccgtctgt ccgtccattt gtgttttctg cgtcgtgtca ttggatataa
     4381 tcctcagaaa taatgcacac tagcctctga caaccatgaa gcaaaaatcc gttacatgtg
     4441 ggtctgaact tgtagactcg gtcacagtat caaataaaat ctataacaga aa
//
