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

Gene ID: 55144, updated on 11-Apr-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 cellular response to osmotic stress; organic acid transport; and protein hexamerization. Located in cytoplasm and plasma membrane. Is integral component of plasma membrane. Part of ion channel complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal (RPKM 8.5), brain (RPKM 8.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p22.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (89821032..89936611)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (89664217..89779829)
105.20220307 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 (35) 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)

Genotypes

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 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_2023_10

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

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