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

    Gene ID: 55144, updated on 27-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 8.5), brain (RPKM 8.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cryo-EM structure of the volume-regulated anion channel LRRC8D isoform identifies features important for substrate permeation. Nakamura R, et al. Commun Biol, 2020 May 15. PMID 32415200, Free PMC Article
    2. Cancerous inhibitor of protein phosphatase 2A promotes premature chromosome segregation and aneuploidy in prostate cancer cells through association with shugoshin. Pallai R, et al. Tumour Biol, 2015 Aug. PMID 25736928
    3. LRRC8A:C/E Heteromeric Channels Are Ubiquitous Transporters of cGAMP. Lahey LJ, et al. Mol Cell, 2020 Nov 19. PMID 33171122
    4. LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins. Kubota K, et al. FEBS Lett, 2004 Apr 23. PMID 15094057
    5. Selective transport of neurotransmitters and modulators by distinct volume-regulated LRRC8 anion channels. Lutter D, et al. J Cell Sci, 2017 Mar 15. PMID 28193731

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cryo-EM structure of the volume-regulated anion channel LRRC8D isoform identifies features important for substrate permeation.
      Title: Cryo-EM structure of the volume-regulated anion channel LRRC8D isoform identifies features important for substrate permeation.
    2. LRRC8D is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells.
      Title: The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
    3. identified four genes, named TA-LRRP, AD158, LRRC5, and FLJ23420, as unknown LRRC8-like genes
      Title: LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 
    Process Evidence Code Pubs
    involved_in aspartate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aspartate transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in cyclic-GMP-AMP transmembrane import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic anion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic anion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in monoatomic anion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein hexamerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in taurine transmembrane transport 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

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    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)

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    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_001134479.2 → NP_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:582 → 816
      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:515 → 536
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:637 → 659
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 384
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:636 → 695
      LRR_8; Leucine rich repeat

    2. NM_018103.5 → NP_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:582 → 816
      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:515 → 536
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:637 → 659
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 384
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:636 → 695
      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_047423953.1 → XP_047279909.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    2. XM_047423956.1 → XP_047279912.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    3. XM_047423947.1 → XP_047279903.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    4. XM_047423940.1 → XP_047279896.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    5. XM_047423944.1 → XP_047279900.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    6. XM_047423943.1 → XP_047279899.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    7. XM_011541689.2 → XP_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:582 → 816
      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:515 → 536
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:637 → 659
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 384
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:636 → 695
      LRR_8; Leucine rich repeat

    8. XM_047423950.1 → XP_047279906.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    9. XM_047423954.1 → XP_047279910.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    10. XM_047423946.1 → XP_047279902.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    11. XM_047423961.1 → XP_047279917.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    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_054337344.1 → XP_054193319.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    2. XM_054337349.1 → XP_054193324.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    3. XM_054337348.1 → XP_054193323.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    4. XM_054337347.1 → XP_054193322.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    5. XM_054337351.1 → XP_054193326.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    6. XM_054337353.1 → XP_054193328.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    7. XM_054337355.1 → XP_054193330.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    8. XM_054337352.1 → XP_054193327.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    9. XM_054337354.1 → XP_054193329.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    10. XM_054337350.1 → XP_054193325.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    11. XM_054337357.1 → XP_054193332.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    12. XM_054337345.1 → XP_054193320.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    13. XM_054337356.1 → XP_054193331.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    14. XM_054337346.1 → XP_054193321.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    15. XM_054337359.1 → XP_054193334.1  volume-regulated anion channel subunit LRRC8D isoform X1

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

    16. XM_054337358.1 → XP_054193333.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      D3DT29, Q6UWB2, Q7L1W4, Q9NVW3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L1W4.1 GenPept UniProtKB/Swiss-Prot:Q7L1W4

    Gene LinkOut

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