LOCUS       NM_001134479            3950 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens leucine rich repeat containing 8 VRAC subunit D
            (LRRC8D), transcript variant 1, mRNA.
ACCESSION   NM_001134479
VERSION     NM_001134479.2
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 3950)
  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   2  (bases 1 to 3950)
  AUTHORS   Nakamura,R., Numata,T., Kasuya,G., Yokoyama,T., Nishizawa,T.,
            Kusakizako,T., Kato,T., Hagino,T., Dohmae,N., Inoue,M.,
            Watanabe,K., Ichijo,H., Kikkawa,M., Shirouzu,M., Jentsch,T.J.,
            Ishitani,R., Okada,Y. and Nureki,O.
  TITLE     Cryo-EM structure of the volume-regulated anion channel LRRC8D
            isoform identifies features important for substrate permeation
  JOURNAL   Commun Biol 3 (1), 240 (2020)
   PUBMED   32415200
  REMARK    GeneRIF: Cryo-EM structure of the volume-regulated anion channel
            LRRC8D isoform identifies features important for substrate
            permeation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3950)
  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   4  (bases 1 to 3950)
  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   5  (bases 1 to 3950)
  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   6  (bases 1 to 3950)
  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 3950)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   8  (bases 1 to 3950)
  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 3950)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB097950.1, DA126452.1, AK092238.1, BC024159.2, AI671275.1,
            BX093623.1 and AL391497.9.
            
            On May 17, 2019 this sequence version replaced NM_001134479.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.155422.1,
                                           SRR1660809.190796.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337338.9/ ENSP00000338887.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-46                DB097950.1         19-64
            47-67               DA126452.1         47-67
            68-1008             AK092238.1         49-989
            1009-3340           BC024159.2         981-3312
            3341-3741           AI671275.1         40-440              c
            3742-3771           BX093623.1         454-483
            3772-3950           AL391497.9         112333-112511
FEATURES             Location/Qualifiers
     source          1..3950
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.2"
     gene            1..3950
                     /gene="LRRC8D"
                     /gene_synonym="HsLRRC8D; LRRC5"
                     /note="leucine rich repeat containing 8 VRAC subunit D"
                     /db_xref="GeneID:55144"
                     /db_xref="HGNC:HGNC:16992"
                     /db_xref="MIM:612890"
     exon            1..260
                     /gene="LRRC8D"
                     /gene_synonym="HsLRRC8D; LRRC5"
                     /inference="alignment:Splign:2.1.0"
     exon            261..405
                     /gene="LRRC8D"
                     /gene_synonym="HsLRRC8D; LRRC5"
                     /inference="alignment:Splign:2.1.0"
     exon            406..3950
                     /gene="LRRC8D"
                     /gene_synonym="HsLRRC8D; LRRC5"
                     /inference="alignment:Splign:2.1.0"
     CDS             408..2984
                     /gene="LRRC8D"
                     /gene_synonym="HsLRRC8D; LRRC5"
                     /note="leucine rich repeat containing 5; leucine-rich
                     repeat-containing protein 8D; leucine-rich
                     repeat-containing protein 5; leucine rich repeat
                     containing 8 family member D"
                     /codon_start=1
                     /product="volume-regulated anion channel subunit LRRC8D"
                     /protein_id="NP_001127951.1"
                     /db_xref="CCDS:CCDS726.1"
                     /db_xref="GeneID:55144"
                     /db_xref="HGNC:HGNC:16992"
                     /db_xref="MIM:612890"
                     /translation="MFTLAEVASLNDIQPTYRILKPWWDVFMDYLAVVMLMVAIFAGT
                     MQLTKDQVVCLPVLPSPVNSKAHTPPGNAEVTTNIPKMEAATNQDQDGRTTNDISFGT
                     SAVTPDIPLRATYPRTDFALPNQEAKKEKKDPTGRKTNLDFQQYVFINQMCYHLALPW
                     YSKYFPYLALIHTIILMVSSNFWFKYPKTCSKVEHFVSILGKCFESPWTTKALSETAC
                     EDSEENKQRITGAQTLPKHVSTSSDEGSPSASTPMINKTGFKFSAEKPVIEVPSMTIL
                     DKKDGEQAKALFEKVRKFRAHVEDSDLIYKLYVVQTVIKTAKFIFILCYTANFVNAIS
                     FEHVCKPKVEHLIGYEVFECTHNMAYMLKKLLISYISIICVYGFICLYTLFWLFRIPL
                     KEYSFEKVREESSFSDIPDVKNDFAFLLHMVDQYDQLYSKRFGVFLSEVSENKLREIS
                     LNHEWTFEKLRQHISRNAQDKQELHLFMLSGVPDAVFDLTDLDVLKLELIPEAKIPAK
                     ISQMTNLQELHLCHCPAKVEQTAFSFLRDHLRCLHVKFTDVAEIPAWVYLLKNLRELY
                     LIGNLNSENNKMIGLESLRELRHLKILHVKSNLTKVPSNITDVAPHLTKLVIHNDGTK
                     LLVLNSLKKMMNVAELELQNCELERIPHAIFSLSNLQELDLKSNNIRTIEEIISFQHL
                     KRLTCLKLWHNKIVTIPPSITHVKNLESLYFSNNKLESLPVAVFSLQKLRCLDVSYNN
                     ISMIPIEIGLLQNLQHLHITGNKVDILPKQLFKCIKLRTLNLGQNCITSLPEKVGQLS
                     QLTQLELKGNCLDRLPAQLGQCRMLKKSGLVVEDHLFDTLPLEVKEALNQDINIPFAN
                     GI"
     regulatory      3316..3321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC8D"
                     /gene_synonym="HsLRRC8D; LRRC5"
                     /note="hexamer: ATTAAA"
     polyA_site      3340
                     /gene="LRRC8D"
                     /gene_synonym="HsLRRC8D; LRRC5"
                     /note="major polyA site"
     regulatory      3770..3775
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC8D"
                     /gene_synonym="HsLRRC8D; LRRC5"
                     /note="hexamer: AATAAA"
     polyA_site      3799
                     /gene="LRRC8D"
                     /gene_synonym="HsLRRC8D; LRRC5"
ORIGIN      
        1 aattcccctc gttacagagt catgtgctgc tgctcccgtc gccgctgctg ccgctgccgc
       61 tgccgccgcc cgtggtgccc cggctcctcc gccgcgcttc gaggtggcag ccgcgggcgg
      121 ggccgcggga gcagggtcca gggtgcagcg cgccttcgcc gccccggcgc gtcccggtgc
      181 agccgccgcc cgccgcgggt gatgccgcca cctccggcct cagcataagc cgtggcttgg
      241 cggccgagct gcaccccaag gaagtgcacg gctgtctata acgtgctgcc gggtctcagg
      301 atggaggagt gaagtctcct gtcgccgtgg ttccagcctc cggagctcgc ccaagccgcg
      361 tccccagaga gcgccctgag agaacagggt ggccgcttgg tccaggaatg tttacccttg
      421 cggaagttgc atcacttaat gacattcagc caacttaccg aatcctgaaa ccatggtggg
      481 atgtgtttat ggattaccta gctgttgtta tgttaatggt agccatcttt gcaggaacca
      541 tgcaacttac caaagatcag gtggtctgtt tgccagtatt gccatctcct gtaaattcaa
      601 aggcacatac accaccagga aatgccgagg tcaccaccaa catcccaaag atggaagcag
      661 ccaccaacca agaccaagat gggcggacaa caaacgacat ttcctttggg acatctgctg
      721 tgacacctga catacctctc agagccacat atcctcgcac agatttcgca cttccaaatc
      781 aggaggcaaa gaaagagaag aaagatccaa caggtcgaaa aacaaacttg gattttcagc
      841 aatatgtatt tattaatcaa atgtgttacc atctggccct tccgtggtat tctaagtact
      901 ttccatacct agctcttata catactatta ttctcatggt cagtagcaac ttttggttca
      961 aatatcccaa aacatgctca aaagtagaac attttgtttc aatattagga aagtgctttg
     1021 aatccccttg gacgacaaaa gcgttgtctg agacagcatg cgaagactca gaggaaaaca
     1081 agcagagaat aacaggtgcc cagactctac caaagcatgt ttctaccagc agtgatgaag
     1141 ggagccccag tgccagtaca ccaatgatca ataaaactgg ctttaaattt tcagctgaga
     1201 agcctgtgat tgaagttccc agcatgacaa tcctggataa aaaggatgga gagcaggcca
     1261 aagccctgtt tgagaaagtg aggaagttcc gtgcccatgt ggaagatagt gacttgatct
     1321 ataaactcta tgtggtccaa acagttatca aaacagccaa gttcattttt attctctgct
     1381 atacagcgaa ctttgtcaac gcaatcagct ttgaacacgt ctgcaagccc aaagttgagc
     1441 atctgattgg ttatgaggta tttgagtgca cccacaatat ggcttacatg ttgaaaaagc
     1501 ttctcatcag ttacatatcc attatttgtg tttatggctt tatctgcctc tacactctct
     1561 tctggttatt caggatacct ttgaaggaat attctttcga aaaagtcaga gaagagagca
     1621 gttttagtga cattccagat gtcaaaaacg attttgcgtt ccttcttcac atggtagacc
     1681 agtatgacca gctatattcc aagcgttttg gtgtgttctt gtcagaagtt agtgaaaata
     1741 aacttaggga aattagtttg aaccatgagt ggacatttga aaaactcagg cagcacattt
     1801 cacgcaacgc ccaggacaag caggagttgc atctgttcat gctgtcgggg gtgcccgatg
     1861 ctgtctttga cctcacagac ctggatgtgc taaagcttga actaattcca gaagctaaaa
     1921 ttcctgctaa gatttctcaa atgactaacc tccaagagct ccacctctgc cactgccctg
     1981 caaaagttga acagactgct tttagctttc ttcgcgatca cttgagatgc cttcacgtga
     2041 agttcactga tgtggctgaa attcctgcct gggtgtattt gctcaaaaac cttcgagagt
     2101 tgtacttaat aggcaatttg aactctgaaa acaataagat gataggactt gaatctctcc
     2161 gagagttgcg gcaccttaag attctccacg tgaagagcaa tttgaccaaa gttccctcca
     2221 acattacaga tgtggctcca catcttacaa agttagtcat tcataatgac ggcactaaac
     2281 tcttggtact gaacagcctt aagaaaatga tgaatgtcgc tgagctggaa ctccagaact
     2341 gtgagctaga gagaatccca catgctattt tcagcctctc taatttacag gaactggatt
     2401 taaagtccaa taacattcgc acaattgagg aaatcatcag tttccagcat ttaaaacgac
     2461 tgacttgttt aaaattatgg cataacaaaa ttgttactat tcctccctct attacccatg
     2521 tcaaaaactt ggagtcactt tatttctcta acaacaagct cgaatcctta ccagtggcag
     2581 tatttagttt acagaaactc agatgcttag atgtgagcta caacaacatt tcaatgattc
     2641 caatagaaat aggattgctt cagaacctgc agcatttgca tatcactggg aacaaagtgg
     2701 acattctgcc aaaacaattg tttaaatgca taaagttgag gactttgaat ctgggacaga
     2761 actgcatcac ctcactccca gagaaagttg gtcagctctc ccagctcact cagctggagc
     2821 tgaaggggaa ctgcttggac cgcctgccag cccagctggg ccagtgtcgg atgctcaaga
     2881 aaagcgggct tgttgtggaa gatcaccttt ttgataccct gccactcgaa gtcaaagagg
     2941 cattgaatca agacataaat attccctttg caaatgggat ttaaactaag ataatatatg
     3001 cacagtgatg tgcaggaaca acttcctaga ttgcaagtgc tcacgtacaa gttattacaa
     3061 gataatgcat tttaggagta gatacatctt ttaaaataaa acagagagga tgcatagaag
     3121 gctgatagaa gacataactg aatgttcaat gtttgtaggg ttttaagtca ttcatttcca
     3181 aatcattttt ttttttcttt tggggaaagg gaaggaaaaa ttataatcac taatcttggt
     3241 tctttttaaa ttgtttgtaa cttggatgct gccgctactg aatgtttaca aattgcttgc
     3301 ctgctaaagt aaatgattaa attgacattt tcttactata tcaccttttt tgaggggtct
     3361 taatttactt tgcttaattg gtgcaatatt gctttaactc cgttcactaa agacaaacac
     3421 atcaagtcca aacttgtaaa tttagatttg ctgaaatact gatttatttc ctgttttaat
     3481 ttaaagtgcc tcaagtaagc acctctcaca acagttgact ggtactgctg ctcctgagca
     3541 cctcgtgtca tagattttat actcttacag acttggaatg cagtagaggt atgtggattt
     3601 ttaggggttt tgttttttta agaataagta acaagaaata acacatttct taataatagc
     3661 ttttttgaca tagtttggag ttctgattat atggtacatt tttctaccag taatataggg
     3721 ttgccaataa atagaaaatg ttttctaaaa ataaatttta ttacaacaaa ataaaaattt
     3781 taatgactta ttaacacaac ctccagtatc accaccattt ggaagataac acagaatcac
     3841 aagtatcatt taatttcttg cccttttcag tgttgttctg gtgttggtgg gaaaataata
     3901 ggaaatgtag ttcattgggt agggaaactc ttacctttcc ctatcttaat
//
