LOCUS       NM_025061               3590 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens leucine rich repeat containing 8 VRAC subunit E
            (LRRC8E), transcript variant 1, mRNA.
ACCESSION   NM_025061
VERSION     NM_025061.6
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 3590)
  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   2  (bases 1 to 3590)
  AUTHORS   Lahey,L.J., Mardjuki,R.E., Wen,X., Hess,G.T., Ritchie,C.,
            Carozza,J.A., Bohnert,V., Maduke,M., Bassik,M.C. and Li,L.
  TITLE     LRRC8A:C/E Heteromeric Channels Are Ubiquitous Transporters of
            cGAMP
  JOURNAL   Mol Cell 80 (4), 578-591 (2020)
   PUBMED   33171122
REFERENCE   3  (bases 1 to 3590)
  AUTHORS   Li,P., Hu,M., Wang,C., Feng,X., Zhao,Z., Yang,Y., Sahoo,N., Gu,M.,
            Yang,Y., Xiao,S., Sah,R., Cover,T.L., Chou,J., Geha,R.,
            Benavides,F., Hume,R.I. and Xu,H.
  TITLE     LRRC8 family proteins within lysosomes regulate cellular
            osmoregulation and enhance cell survival to multiple physiological
            stresses
  JOURNAL   Proc Natl Acad Sci U S A 117 (46), 29155-29165 (2020)
   PUBMED   33139539
REFERENCE   4  (bases 1 to 3590)
  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   5  (bases 1 to 3590)
  AUTHORS   Lutter,D., Ullrich,F., Lueck,J.C., Kempa,S. and Jentsch,T.J.
  TITLE     Selective transport of neurotransmitters and modulators by distinct
            volume-regulated LRRC8 anion channels
  JOURNAL   J Cell Sci 130 (6), 1122-1133 (2017)
   PUBMED   28193731
REFERENCE   6  (bases 1 to 3590)
  AUTHORS   Syeda,R., Qiu,Z., Dubin,A.E., Murthy,S.E., Florendo,M.N.,
            Mason,D.E., Mathur,J., Cahalan,S.M., Peters,E.C., Montal,M. and
            Patapoutian,A.
  TITLE     LRRC8 Proteins Form Volume-Regulated Anion Channels that Sense
            Ionic Strength
  JOURNAL   Cell 164 (3), 499-511 (2016)
   PUBMED   26824658
REFERENCE   7  (bases 1 to 3590)
  AUTHORS   Voss,F.K., Ullrich,F., Munch,J., Lazarow,K., Lutter,D., Mah,N.,
            Andrade-Navarro,M.A., von Kries,J.P., Stauber,T. and Jentsch,T.J.
  TITLE     Identification of LRRC8 heteromers as an essential component of the
            volume-regulated anion channel VRAC
  JOURNAL   Science 344 (6184), 634-638 (2014)
   PUBMED   24790029
REFERENCE   8  (bases 1 to 3590)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   9  (bases 1 to 3590)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK091134.1, KF459574.1,
            BX538180.1 and CB049178.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_025061.5.
            
            Summary: This gene encodes a member of a small, conserved family of
            proteins with similar structure, including a string of
            extracellular leucine-rich repeats. A related protein was shown to
            be involved in B-cell development. Alternatively spliced transcript
            variants encoding multiple isoforms have been observed for this
            gene. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Variants 1 and 2 encode the same protein (isoform 1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX538180.1, BC070089.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306708.11/ ENSP00000306524.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-602               AK091134.1         6-607
            603-604             KF459574.1         148-149
            605-2594            AK091134.1         610-2599
            2595-2601           BX538180.1         2590-2596
            2602-3265           BX538180.1         2598-3261
            3266-3590           CB049178.1         14-338
FEATURES             Location/Qualifiers
     source          1..3590
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..3590
                     /gene="LRRC8E"
                     /note="leucine rich repeat containing 8 VRAC subunit E"
                     /db_xref="GeneID:80131"
                     /db_xref="HGNC:HGNC:26272"
                     /db_xref="MIM:612891"
     exon            1..91
                     /gene="LRRC8E"
                     /inference="alignment:Splign:2.1.0"
     exon            92..234
                     /gene="LRRC8E"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..2487
                     /gene="LRRC8E"
                     /note="isoform 1 is encoded by transcript variant 1;
                     leucine-rich repeat-containing protein 8E;
                     volume-regulated anion channel subunit LRRC8E; leucine
                     rich repeat containing 8 family member E"
                     /codon_start=1
                     /product="volume-regulated anion channel subunit LRRC8E
                     isoform 1"
                     /protein_id="NP_079337.2"
                     /db_xref="CCDS:CCDS12189.1"
                     /db_xref="GeneID:80131"
                     /db_xref="HGNC:HGNC:26272"
                     /db_xref="MIM:612891"
                     /translation="MIPVAEFKQFTEQQPAFKVLKPWWDVLAEYLTVAMLMIGVFGCT
                     LQVTQDKIICLPNHELQENLSEAPCQQLLPRGIPEQIGALQEVKGLKNNLDLQQYSFI
                     NQLCYETALHWYAKYFPYLVVIHTLIFMVCTSFWFKFPGTSSKIEHFISILGKCFDSP
                     WTTRALSEVSGENQKGPAATERAAATIVAMAGTGPGKAGEGEKEKVLAEPEKVVTEPP
                     VVTLLDKKEGEQAKALFEKVKKFRMHVEEGDILYTMYIRQTVLKVCKFLAILVYNLVY
                     VEKISFLVACRVETSEVTGYASFCCNHTKAHLFSKLAFCYISFVCIYGLTCIYTLYWL
                     FHRPLKEYSFRSVREETGMGDIPDVKNDFAFMLHLIDQYDSLYSKRFAVFLSEVSESR
                     LKQLNLNHEWTPEKLRQKLQRNAAGRLELALCMLPGLPDTVFELSEVESLRLEAICDI
                     TFPPGLSQLVHLQELSLLHSPARLPFSLQVFLRDHLKVMRVKCEELREVPLWVFGLRG
                     LEELHLEGLFPQELARAATLESLRELKQLKVLSLRSNAGKVPASVTDVAGHLQRLSLH
                     NDGARLVALNSLKKLAALRELELVACGLERIPHAVFSLGALQELDLKDNHLRSIEEIL
                     SFQHCRKLVTLRLWHNQIAYVPEHVRKLRSLEQLYLSYNKLETLPSQLGLCSGLRLLD
                     VSHNGLHSLPPEVGLLQNLQHLALSYNALEALPEELFFCRKLRTLLLGDNQLSQLSPH
                     VGALRALSRLELKGNRLEALPEELGNCGGLKKAGLLVEDTLYQGLPAEVRDKMEEE"
     exon            235..3590
                     /gene="LRRC8E"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3572..3577
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC8E"
                     /note="hexamer: AATAAT"
     polyA_site      3590
                     /gene="LRRC8E"
                     /note="major polyA site"
ORIGIN      
        1 accctcgcgg cccgcccggg aactctgcgg gagtcgcggc agctccgctc ccagagaccc
       61 aggagttggg cccagcgtcc ctcccggaac ggcagcatga tcccagtggc cgagttcaag
      121 cagttcacgg aacagcagcc tgcgttcaag gtgctcaaac cctggtggga cgtgctggcc
      181 gagtacctca ccgtggccat gctcatgatt ggggtctttg gctgcaccct ccaggtgaca
      241 caggacaaga tcatctgtct acccaatcat gagctccagg agaacttatc agaggccccg
      301 tgccagcaat tgctgcctcg ggggatccct gagcagattg gggccctgca ggaggttaaa
      361 ggccttaaga acaatttgga cctgcagcaa tacagcttta ttaaccagct gtgttatgag
      421 acggccctgc actggtatgc caagtacttc ccttacctcg tggtcattca cacactcatc
      481 ttcatggtct gcaccagttt ctggttcaag ttccctggca ccagctccaa gattgaacac
      541 ttcatctcca tcctgggcaa gtgtttcgac tctccatgga ccaccagggc cctatccgag
      601 gtctccgggg agaaccagaa gggcccagca gccaccgaac gggctgcggc caccatagtg
      661 gccatggcag ggaccgggcc ggggaaggca ggggagggtg agaaggagaa agtgctggcg
      721 gaaccggaga aggtggtgac cgagcctcca gttgtcaccc tgttggacaa gaaggagggt
      781 gagcaagcca aagccctgtt tgagaaggtg aagaagttcc gcatgcacgt ggaagagggc
      841 gacatcctgt acaccatgta catccgacag acggtgctga aagtgtgtaa gttcctggcc
      901 atcctggtct acaacctggt ctatgtggag aagatcagtt tcctggtggc ctgtagggtg
      961 gagacgtcag aggtcacggg ctacgccagc ttctgctgca accacaccaa ggcccacctc
     1021 ttctccaagc tggccttctg ttacatctcc tttgtgtgca tctacggact tacctgcatc
     1081 tacacgctct actggctctt ccaccggccc ctcaaggagt actccttccg ttccgtgcgg
     1141 gaggagactg gcatggggga cattcctgac gtcaagaatg acttcgcctt catgctgcac
     1201 ctcatcgatc agtacgactc cctctactcc aagcgcttcg ccgtcttcct gtccgaggtc
     1261 agcgaaagcc gtctaaagca gctcaatctc aaccacgagt ggacgcccga gaagcttcga
     1321 cagaagctgc agcgcaatgc cgcgggccgg ctggagctgg ccctctgcat gctgccgggt
     1381 ctgcccgaca ccgtctttga gctcagtgag gtggagtcac tcaggctgga ggccatctgc
     1441 gatatcacct tccccccggg gctgtcacag ctggtgcact tgcaggagct cagcttgctc
     1501 cactcgcccg ccaggctacc cttctccttg caggtcttcc tgcgggacca cctgaaggtg
     1561 atgcgcgtca aatgcgagga gctccgcgag gtgccgcttt gggtgtttgg gctgcggggc
     1621 ttggaggagc tgcacctgga ggggcttttc ccccaggagc tagctcgggc agccaccctg
     1681 gagagcctcc gggagctgaa gcagctcaag gtgttgtccc tccggagcaa cgccgggaag
     1741 gtgccagcca gtgtgaccga cgttgctggc cacctgcaga ggctcagcct gcacaacgat
     1801 ggggcccgtc tggttgccct gaacagcctc aagaagctgg cggcattgcg ggagctggag
     1861 ctggtggcct gcgggctgga gcgcatcccc catgcagtgt tcagcctggg tgcgctgcag
     1921 gaacttgacc tcaaggacaa ccacctgcgc tccatcgagg aaatcctcag cttccagcac
     1981 tgccggaagc tggtcacgct caggctgtgg cacaaccaga tcgcctacgt ccctgagcac
     2041 gtgcggaagc tcaggagcct ggagcagctc tacctcagct acaacaagct ggagaccctg
     2101 ccctcccagc tcggcctgtg ctcaggcctc cgtctgctgg atgtgtccca caatgggcta
     2161 cactccctgc cacccgaggt gggcctcctg cagaacctac agcacctggc cctctcctac
     2221 aatgccctgg aggccctgcc cgaagagctc ttcttctgcc gcaagctgcg gacgttgctt
     2281 ctgggcgaca accagctgag ccagctctcg ccccacgtgg gtgccctcag agccctcagc
     2341 cgcctggagc tcaaaggcaa ccgcttagag gcgctgccag aagaacttgg caactgtggg
     2401 gggctcaaga aggcggggct cctggtggaa gacacgcttt accagggtct gccggcagaa
     2461 gtgcgggaca agatggagga ggaatgaagc tggggtgggg ccgttttagg tagagcctta
     2521 aaaatgcttc tgccctggaa tctcaaccat tgtcttccaa gataggaagc caagtgggtc
     2581 caggccagga gatggggggg gcgggggcag ctgtgtcatc tttctggggc ccaggaggat
     2641 ctgggctggt ttgtctgggg agacagacag gatgttgtgg agctggggtg gaacctggta
     2701 tggagggatt aactcagtca tggcattctc cgaccaaaac cacacctgtg tctctggcag
     2761 gctggctggc cttgctccca tccctagaac tgctgcctct ccctggatat tccagctcaa
     2821 ttagtgccac atatggggga aacgacacat cccagtggga tttccaacac tccccctccc
     2881 catgcaacaa agcaacttac ttctggagtt ctctcccaag gagaggacac agacacagtt
     2941 gtttgctgtg ttatatgtta gctccgaaca atggttctca tttggctaag catcaaaatc
     3001 acctagggag tcggtgcaaa acaaaatatc ccagtcccct cccctgaaac actgactcag
     3061 gaggtttggt tgggggccag gagtctgttc ctaaatattc caggtagttc tggtgcaggt
     3121 aagtggccct gagacagtat gttgggaaat gctgacgtaa aggtatcagg gccgggcgct
     3181 gtggctcatg actataatcc cagctgtttg agaggccaat gcaggaggat ggttgagctc
     3241 aggagttcga gatcagcctg ggtaacatag cgagacccca cctctgccaa aaaaaaaaaa
     3301 aatagggtat ccaaatatct agattctgat cccttttgag gtcctagacc ctttgagaaa
     3361 ctgatgaagc caggcacctc cttcctcagg aaaatgctgg tgtacaaata cacacaaagc
     3421 tcttcaggca gctgatagat ttcccccaga gagctattca aggacttcct aaggtgggtg
     3481 gactgcaggg ttaggacacc tgctatagag gtgacatttt tccaaggaca agcagggact
     3541 ttggtcttga ctgttctctg ggtgcttaat aaataatact aattatgcaa
//
