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Q8IWT6

- LRC8A_HUMAN

UniProt

Q8IWT6 - LRC8A_HUMAN

Protein

Volume-regulated anion channel subunit LRRC8A

Gene

LRRC8A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. It is unclear whether LRRC8A constitutes a pore-forming subunit or whether it is closely associated with the pore and mediates channel properties such as ion selectivity. Involved in B-cell development: required for the pro-B cell to pre-B cell transition. Also required for T-cell development.3 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. anion transport Source: UniProtKB
    2. cell volume homeostasis Source: UniProtKB
    3. pre-B cell differentiation Source: UniProtKB
    4. response to osmotic stress Source: UniProtKB

    Keywords - Molecular functioni

    Ion channel

    Keywords - Biological processi

    Differentiation, Ion transport, Transport

    Protein family/group databases

    TCDBi1.A.25.3.1. the gap junction-forming innexin (innexin) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Volume-regulated anion channel subunit LRRC8A
    Alternative name(s):
    Leucine-rich repeat-containing protein 8A
    Swelling protein 1
    Gene namesi
    Name:LRRC8A
    Synonyms:KIAA1437, LRRC8, SWELL1
    ORF Names:UNQ221/PRO247
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:19027. LRRC8A.

    Subcellular locationi

    Cell membrane 3 Publications; Multi-pass membrane protein 3 Publications

    GO - Cellular componenti

    1. cell surface Source: MGI
    2. ion channel complex Source: UniProtKB
    3. membrane Source: UniProtKB
    4. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Agammaglobulinemia 5, autosomal dominant (AGM5) [MIM:613506]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi44 – 441T → A or C: Altered anion selectivity. 1 Publication
    Mutagenesisi66 – 661N → A: Abolishes N-glycosylation; when associated with A-83. 1 Publication
    Mutagenesisi83 – 831N → A: Abolishes N-glycosylation; when associated with A-66. 1 Publication

    Organism-specific databases

    MIMi613506. phenotype.
    Orphaneti33110. Autosomal agammaglobulinemia.
    PharmGKBiPA134909315.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 810810Volume-regulated anion channel subunit LRRC8APRO_0000084499Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine2 Publications
    Glycosylationi66 – 661N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi83 – 831N-linked (GlcNAc...)Sequence Analysis
    Modified residuei217 – 2171Phosphoserine2 Publications

    Post-translational modificationi

    N-glycosylated.1 Publication

    Keywords - PTMi

    Acetylation, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ8IWT6.
    PaxDbiQ8IWT6.
    PeptideAtlasiQ8IWT6.
    PRIDEiQ8IWT6.

    PTM databases

    PhosphoSiteiQ8IWT6.

    Expressioni

    Tissue specificityi

    Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells. Expressed on T-cells as well as on B-lineage cells.2 Publications

    Gene expression databases

    ArrayExpressiQ8IWT6.
    BgeeiQ8IWT6.
    CleanExiHS_LRRC8A.
    GenevestigatoriQ8IWT6.

    Organism-specific databases

    HPAiHPA016811.

    Interactioni

    Subunit structurei

    Heterooligomer; heterooligomerizes with other LRRC8 proteins (LRRC8B, LRRC8C, LRRC8D and/or LRRC8E), possibly to form a heterohexamer.1 Publication

    Protein-protein interaction databases

    BioGridi121126. 3 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IWT6.
    SMRiQ8IWT6. Positions 331-802.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2525CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini46 – 12378ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini147 – 262116CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini286 – 31934ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini343 – 810468CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei26 – 4520HelicalSequence AnalysisAdd
    BLAST
    Transmembranei124 – 14623HelicalSequence AnalysisAdd
    BLAST
    Transmembranei263 – 28523HelicalSequence AnalysisAdd
    BLAST
    Transmembranei320 – 34223HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati373 – 40129LRR 1Add
    BLAST
    Repeati402 – 42423LRR 2Add
    BLAST
    Repeati425 – 44723LRR 3Add
    BLAST
    Repeati448 – 47023LRR 4Add
    BLAST
    Repeati471 – 49424LRR 5Add
    BLAST
    Repeati495 – 51824LRR 6Add
    BLAST
    Repeati519 – 54527LRR 7Add
    BLAST
    Repeati546 – 56823LRR 8Add
    BLAST
    Repeati569 – 59224LRR 9Add
    BLAST
    Repeati593 – 61523LRR 10Add
    BLAST
    Repeati616 – 64025LRR 11Add
    BLAST
    Repeati641 – 66323LRR 12Add
    BLAST
    Repeati664 – 68623LRR 13Add
    BLAST
    Repeati687 – 70620LRR 14Add
    BLAST
    Repeati707 – 73226LRR 15Add
    BLAST
    Repeati733 – 75523LRR 16Add
    BLAST
    Repeati756 – 77722LRR 17Add
    BLAST

    Sequence similaritiesi

    Belongs to the LRRC8 family.Curated
    Contains 17 LRR (leucine-rich) repeats.Curated

    Keywords - Domaini

    Leucine-rich repeat, Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG4886.
    HOGENOMiHOG000231806.
    HOVERGENiHBG052360.
    InParanoidiQ8IWT6.
    OMAiHIAYIPM.
    OrthoDBiEOG7Z3F3T.
    PhylomeDBiQ8IWT6.
    TreeFamiTF331443.

    Family and domain databases

    InterProiIPR001611. Leu-rich_rpt.
    IPR025875. Leu-rich_rpt_4.
    IPR003591. Leu-rich_rpt_typical-subtyp.
    IPR021040. LRR_protein-8_N.
    [Graphical view]
    PfamiPF12534. DUF3733. 2 hits.
    PF12799. LRR_4. 1 hit.
    PF13855. LRR_8. 2 hits.
    [Graphical view]
    SMARTiSM00369. LRR_TYP. 2 hits.
    [Graphical view]
    PROSITEiPS51450. LRR. 11 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8IWT6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MIPVTELRYF ADTQPAYRIL KPWWDVFTDY ISIVMLMIAV FGGTLQVTQD    50
    KMICLPCKWV TKDSCNDSFR GWAAPGPEPT YPNSTILPTP DTGPTGIKYD 100
    LDRHQYNYVD AVCYENRLHW FAKYFPYLVL LHTLIFLACS NFWFKFPRTS 150
    SKLEHFVSIL LKCFDSPWTT RALSETVVEE SDPKPAFSKM NGSMDKKSST 200
    VSEDVEATVP MLQRTKSRIE QGIVDRSETG VLDKKEGEQA KALFEKVKKF 250
    RTHVEEGDIV YRLYMRQTII KVIKFILIIC YTVYYVHNIK FDVDCTVDIE 300
    SLTGYRTYRC AHPLATLFKI LASFYISLVI FYGLICMYTL WWMLRRSLKK 350
    YSFESIREES SYSDIPDVKN DFAFMLHLID QYDPLYSKRF AVFLSEVSEN 400
    KLRQLNLNNE WTLDKLRQRL TKNAQDKLEL HLFMLSGIPD TVFDLVELEV 450
    LKLELIPDVT IPPSIAQLTG LKELWLYHTA AKIEAPALAF LRENLRALHI 500
    KFTDIKEIPL WIYSLKTLEE LHLTGNLSAE NNRYIVIDGL RELKRLKVLR 550
    LKSNLSKLPQ VVTDVGVHLQ KLSINNEGTK LIVLNSLKKM ANLTELELIR 600
    CDLERIPHSI FSLHNLQEID LKDNNLKTIE EIISFQHLHR LTCLKLWYNH 650
    IAYIPIQIGN LTNLERLYLN RNKIEKIPTQ LFYCRKLRYL DLSHNNLTFL 700
    PADIGLLQNL QNLAITANRI ETLPPELFQC RKLRALHLGN NVLQSLPSRV 750
    GELTNLTQIE LRGNRLECLP VELGECPLLK RSGLVVEEDL FNTLPPEVKE 800
    RLWRADKEQA 810
    Length:810
    Mass (Da):94,199
    Last modified:March 1, 2003 - v1
    Checksum:iE0C5E6EBEE8275E8
    GO

    Sequence cautioni

    The sequence AAQ88653.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAA92675.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAC11161.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti323 – 3231S → P in BAC11161. (PubMed:14702039)Curated
    Sequence conflicti744 – 7441Q → R in BAC11161. (PubMed:14702039)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY143166 mRNA. Translation: AAN18279.1.
    AB037858 mRNA. Translation: BAA92675.1. Different initiation.
    AL672142 Genomic DNA. Translation: CAI10839.1.
    BC051322 mRNA. Translation: AAH51322.1.
    AY358286 mRNA. Translation: AAQ88653.1. Different initiation.
    AK074723 mRNA. Translation: BAC11161.1. Different initiation.
    CCDSiCCDS35155.1.
    RefSeqiNP_001120716.1. NM_001127244.1.
    NP_001120717.1. NM_001127245.1.
    NP_062540.2. NM_019594.3.
    XP_005252152.1. XM_005252095.1.
    XP_005252153.1. XM_005252096.1.
    XP_006717249.1. XM_006717186.1.
    UniGeneiHs.643600.

    Genome annotation databases

    EnsembliENST00000259324; ENSP00000259324; ENSG00000136802.
    ENST00000372599; ENSP00000361680; ENSG00000136802.
    ENST00000372600; ENSP00000361682; ENSG00000136802.
    GeneIDi56262.
    KEGGihsa:56262.
    UCSCiuc004bwl.4. human.

    Polymorphism databases

    DMDMi37537912.

    Keywords - Coding sequence diversityi

    Chromosomal rearrangement

    Cross-referencesi

    Web resourcesi

    LRRC8Abase

    LRRC8A mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY143166 mRNA. Translation: AAN18279.1 .
    AB037858 mRNA. Translation: BAA92675.1 . Different initiation.
    AL672142 Genomic DNA. Translation: CAI10839.1 .
    BC051322 mRNA. Translation: AAH51322.1 .
    AY358286 mRNA. Translation: AAQ88653.1 . Different initiation.
    AK074723 mRNA. Translation: BAC11161.1 . Different initiation.
    CCDSi CCDS35155.1.
    RefSeqi NP_001120716.1. NM_001127244.1.
    NP_001120717.1. NM_001127245.1.
    NP_062540.2. NM_019594.3.
    XP_005252152.1. XM_005252095.1.
    XP_005252153.1. XM_005252096.1.
    XP_006717249.1. XM_006717186.1.
    UniGenei Hs.643600.

    3D structure databases

    ProteinModelPortali Q8IWT6.
    SMRi Q8IWT6. Positions 331-802.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121126. 3 interactions.

    Protein family/group databases

    TCDBi 1.A.25.3.1. the gap junction-forming innexin (innexin) family.

    PTM databases

    PhosphoSitei Q8IWT6.

    Polymorphism databases

    DMDMi 37537912.

    Proteomic databases

    MaxQBi Q8IWT6.
    PaxDbi Q8IWT6.
    PeptideAtlasi Q8IWT6.
    PRIDEi Q8IWT6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000259324 ; ENSP00000259324 ; ENSG00000136802 .
    ENST00000372599 ; ENSP00000361680 ; ENSG00000136802 .
    ENST00000372600 ; ENSP00000361682 ; ENSG00000136802 .
    GeneIDi 56262.
    KEGGi hsa:56262.
    UCSCi uc004bwl.4. human.

    Organism-specific databases

    CTDi 56262.
    GeneCardsi GC09P131644.
    HGNCi HGNC:19027. LRRC8A.
    HPAi HPA016811.
    MIMi 608360. gene.
    613506. phenotype.
    neXtProti NX_Q8IWT6.
    Orphaneti 33110. Autosomal agammaglobulinemia.
    PharmGKBi PA134909315.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4886.
    HOGENOMi HOG000231806.
    HOVERGENi HBG052360.
    InParanoidi Q8IWT6.
    OMAi HIAYIPM.
    OrthoDBi EOG7Z3F3T.
    PhylomeDBi Q8IWT6.
    TreeFami TF331443.

    Miscellaneous databases

    ChiTaRSi LRRC8A. human.
    GeneWikii LRRC8A.
    GenomeRNAii 56262.
    NextBioi 61921.
    PROi Q8IWT6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IWT6.
    Bgeei Q8IWT6.
    CleanExi HS_LRRC8A.
    Genevestigatori Q8IWT6.

    Family and domain databases

    InterProi IPR001611. Leu-rich_rpt.
    IPR025875. Leu-rich_rpt_4.
    IPR003591. Leu-rich_rpt_typical-subtyp.
    IPR021040. LRR_protein-8_N.
    [Graphical view ]
    Pfami PF12534. DUF3733. 2 hits.
    PF12799. LRR_4. 1 hit.
    PF13855. LRR_8. 2 hits.
    [Graphical view ]
    SMARTi SM00369. LRR_TYP. 2 hits.
    [Graphical view ]
    PROSITEi PS51450. LRR. 11 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION, INVOLVEMENT IN AGM5.
    2. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], TISSUE SPECIFICITY.
      Tissue: Brain.
    3. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Pancreas.
    5. Bienvenut W.V., Pchelintsev N., Adams P.D.
      Submitted (OCT-2009) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 1-8; 483-492; 534-541 AND 735-749, ACETYLATION AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Lung fibroblast.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 239-810.
    7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 259-810.
    8. "LRRC8 extracellular domain is composed of 17 leucine-rich repeats."
      Smits G., Kajava A.V.
      Mol. Immunol. 41:561-562(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: DOMAINS LEUCINE-RICH REPEATS.
    9. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-217, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-217, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "LRRC8 proteins share a common ancestor with pannexins, and may form hexameric channels involved in cell-cell communication."
      Abascal F., Zardoya R.
      Bioessays 34:551-560(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.
    12. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. "SWELL1, a plasma membrane protein, is an essential component of volume-regulated anion channel."
      Qiu Z., Dubin A.E., Mathur J., Tu B., Reddy K., Miraglia L.J., Reinhardt J., Orth A.P., Patapoutian A.
      Cell 157:447-458(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF THR-44.
    14. "The protein synthesis inhibitor blasticidin S enters mammalian cells via leucine-rich repeat-containing protein 8D."
      Lee C.C., Freinkman E., Sabatini D.M., Ploegh H.L.
      J. Biol. Chem. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TOPOLOGY.
    15. "Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC."
      Voss F.K., Ullrich F., Muench J., Lazarow K., Lutter D., Mah N., Andrade-Navarro M.A., von Kries J.P., Stauber T., Jentsch T.J.
      Science 344:634-638(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, TOPOLOGY, GLYCOSYLATION, MUTAGENESIS OF ASN-66 AND ASN-83.

    Entry informationi

    Entry nameiLRC8A_HUMAN
    AccessioniPrimary (citable) accession number: Q8IWT6
    Secondary accession number(s): Q6UXM2, Q8NCI0, Q9P2B1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 3, 2003
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 118 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3