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

    Gene ID: 55144, updated on 17-Jun-2019

    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
    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
    Expression
    Ubiquitous expression in adrenal (RPKM 8.5), brain (RPKM 8.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See LRRC8D in Genome Data Viewer
    Location:
    1p22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (89821014..89936611)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (90286573..90401991)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985744 Neighboring gene uncharacterized LOC101927975 Neighboring gene uncharacterized LOC105378847 Neighboring gene RN7SK pseudogene 272

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat'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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10470, FLJ20403

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    volume-sensitive anion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    volume-sensitive anion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    contributes_to volume-sensitive anion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    anion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    anion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    aspartate transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inorganic anion transport IEA
    Inferred from Electronic Annotation
    more info
     
    taurine transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ion channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ion channel complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane HDA PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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)

    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
      Q7L1W4
      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
      Q7L1W4
      UniProtKB/TrEMBL
      Q96GG5
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      89821014..89936611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541689.1XP_011539991.1  volume-regulated anion channel subunit LRRC8D isoform X1

      See identical proteins and their annotated locations for XP_011539991.1

      UniProtKB/Swiss-Prot
      Q7L1W4
      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. XM_017001601.2XP_016857090.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      Q7L1W4
      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
    3. XM_017001602.1XP_016857091.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      Q7L1W4
      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
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