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    LRRC8D leucine rich repeat containing 8 VRAC subunit D [ Homo sapiens (human) ]

    Gene ID: 55144, updated on 10-Dec-2024

    Summary

    Official Symbol
    LRRC8Dprovided by HGNC
    Official Full Name
    leucine rich repeat containing 8 VRAC subunit Dprovided by HGNC
    Primary source
    HGNC:HGNC:16992
    See related
    Ensembl:ENSG00000171492 MIM:612890; AllianceGenome:HGNC:16992
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LRRC5; HsLRRC8D
    Summary
    Enables volume-sensitive anion channel activity. Involved in several processes, including monoatomic anion transmembrane transport; organic acid transmembrane transport; and protein hexamerization. Located in cytoplasm and plasma membrane. Part of monoatomic ion channel complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 8.5), brain (RPKM 8.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LRRC8D in Genome Data Viewer
    Location:
    1p22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (89821032..89936611)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (89664217..89779829)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (90286591..90402170)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985744 Neighboring gene uncharacterized LOC101927975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:90263399-90264092 Neighboring gene NANOG hESC enhancer GRCh37_chr1:90267637-90268138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1058 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:90287341-90287560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:90292003-90292502 Neighboring gene LRRC8D divergent transcript Neighboring gene Sharpr-MPRA regulatory region 10367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1060 Neighboring gene Sharpr-MPRA regulatory region 14100 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:90371561-90372162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:90372163-90372766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:90379360-90379886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:90379887-90380413 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:90384106-90384728 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:90398363-90398965 Neighboring gene uncharacterized LOC105378847 Neighboring gene RN7SK pseudogene 272

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of LRRC8D PubMed
    Knockdown of leucine rich repeat containing 8 family, member D (LRRC8D) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10470, FLJ20403

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables volume-sensitive anion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to volume-sensitive anion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables volume-sensitive anion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of monoatomic ion channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of monoatomic ion channel complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    volume-regulated anion channel subunit LRRC8D
    Names
    leucine rich repeat containing 5
    leucine rich repeat containing 8 family member D
    leucine-rich repeat-containing protein 5
    leucine-rich repeat-containing protein 8D

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001134479.2NP_001127951.1  volume-regulated anion channel subunit LRRC8D

      See identical proteins and their annotated locations for NP_001127951.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AI671275, AK092238, AL391497, BC024159, BX093623, DA126452, DB097950
      Consensus CDS
      CCDS726.1
      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
      Related
      ENSP00000338887.5, ENST00000337338.9
      Conserved Domains (5) summary
      cd00116
      Location:582816
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00031
      Location:515536
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:637659
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1384
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:636695
      LRR_8; Leucine rich repeat
    2. NM_018103.5NP_060573.2  volume-regulated anion channel subunit LRRC8D

      See identical proteins and their annotated locations for NP_060573.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different segment for part of its 5' UTR, compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AI671275, AL391497, BC009486, BC024159, BP283613, BX093623
      Consensus CDS
      CCDS726.1
      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
      Related
      ENSP00000378093.3, ENST00000394593.7
      Conserved Domains (5) summary
      cd00116
      Location:582816
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00031
      Location:515536
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:637659
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1384
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:636695
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      89821032..89936611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423953.1XP_047279909.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    2. XM_047423956.1XP_047279912.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    3. XM_047423947.1XP_047279903.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    4. XM_047423940.1XP_047279896.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    5. XM_047423944.1XP_047279900.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    6. XM_047423943.1XP_047279899.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    7. XM_011541689.2XP_011539991.1  volume-regulated anion channel subunit LRRC8D isoform X1

      See identical proteins and their annotated locations for XP_011539991.1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
      Conserved Domains (5) summary
      cd00116
      Location:582816
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00031
      Location:515536
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:637659
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1384
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:636695
      LRR_8; Leucine rich repeat
    8. XM_047423950.1XP_047279906.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    9. XM_047423954.1XP_047279910.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    10. XM_047423946.1XP_047279902.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    11. XM_047423961.1XP_047279917.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      89664217..89779829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337344.1XP_054193319.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    2. XM_054337349.1XP_054193324.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    3. XM_054337348.1XP_054193323.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    4. XM_054337347.1XP_054193322.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    5. XM_054337351.1XP_054193326.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    6. XM_054337353.1XP_054193328.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    7. XM_054337355.1XP_054193330.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    8. XM_054337352.1XP_054193327.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    9. XM_054337354.1XP_054193329.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    10. XM_054337350.1XP_054193325.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    11. XM_054337357.1XP_054193332.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    12. XM_054337345.1XP_054193320.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    13. XM_054337356.1XP_054193331.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    14. XM_054337346.1XP_054193321.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    15. XM_054337359.1XP_054193334.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1
    16. XM_054337358.1XP_054193333.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
      UniProtKB/TrEMBL
      B3KRU1