U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    LRRC8E leucine rich repeat containing 8 VRAC subunit E [ Homo sapiens (human) ]

    Gene ID: 80131, updated on 17-Jun-2024

    Summary

    Official Symbol
    LRRC8Eprovided by HGNC
    Official Full Name
    leucine rich repeat containing 8 VRAC subunit Eprovided by HGNC
    Primary source
    HGNC:HGNC:26272
    See related
    Ensembl:ENSG00000171017 MIM:612891; AllianceGenome:HGNC:26272
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
    Expression
    Broad expression in skin (RPKM 1.3), prostate (RPKM 0.9) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LRRC8E in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7888510..7902016)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7889464..7902971)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7953395..7966901)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene LYPLA2 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7953152-7953850 Neighboring gene RNA, 5S ribosomal pseudogene 463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7954740-7955240 Neighboring gene uncharacterized LOC124904630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7968039-7968616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7969265-7969804 Neighboring gene mitogen-activated protein kinase kinase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7980702-7981202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7981823-7982699 Neighboring gene transforming growth factor beta receptor 3 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7982700-7983575

    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

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of leucine rich repeat containing 8 family, member E (LRRC8E) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ23420

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal 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 LRRC8E
    Names
    leucine rich repeat containing 8 family member E
    leucine-rich repeat-containing protein 8E

    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.

    Genomic

    1. NG_050684.1 RefSeqGene

      Range
      5006..18512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001268284.3NP_001255213.1  volume-regulated anion channel subunit LRRC8E isoform 1

      See identical proteins and their annotated locations for NP_001255213.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC010336, AK091134, BX538180, CB049178, CF593782, KF459574
      Consensus CDS
      CCDS12189.1
      UniProtKB/Swiss-Prot
      B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8
      Related
      ENSP00000479953.1, ENST00000618098.4
      Conserved Domains (4) summary
      cd00116
      Location:520760
      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 ...
      sd00033
      Location:537559
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1331
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:676734
      LRR_8; Leucine rich repeat
    2. NM_001268285.3NP_001255214.1  volume-regulated anion channel subunit LRRC8E isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC010336, AK091134, BX538180, CB049178, DA447942, KF459574
      UniProtKB/Swiss-Prot
      Q6NSJ5
      Conserved Domains (4) summary
      cd00116
      Location:391606
      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 ...
      sd00033
      Location:408430
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1202
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:547605
      LRR_8; Leucine rich repeat
    3. NM_025061.6NP_079337.2  volume-regulated anion channel subunit LRRC8E isoform 1

      See identical proteins and their annotated locations for NP_079337.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AK091134, BX538180, CB049178, KF459574
      Consensus CDS
      CCDS12189.1
      UniProtKB/Swiss-Prot
      B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8
      Related
      ENSP00000306524.5, ENST00000306708.11
      Conserved Domains (4) summary
      cd00116
      Location:520760
      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 ...
      sd00033
      Location:537559
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1331
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:676734
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      7888510..7902016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439461.1XP_047295417.1  volume-regulated anion channel subunit LRRC8E isoform X1

      UniProtKB/Swiss-Prot
      B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8
    2. XM_011528319.3XP_011526621.1  volume-regulated anion channel subunit LRRC8E isoform X1

      See identical proteins and their annotated locations for XP_011526621.1

      UniProtKB/Swiss-Prot
      B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8
      Conserved Domains (4) summary
      cd00116
      Location:520760
      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 ...
      sd00033
      Location:537559
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1331
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:676734
      LRR_8; Leucine rich repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      7889464..7902971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322217.1XP_054178192.1  volume-regulated anion channel subunit LRRC8E isoform X1

      UniProtKB/Swiss-Prot
      B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8
    2. XM_054322218.1XP_054178193.1  volume-regulated anion channel subunit LRRC8E isoform X1

      UniProtKB/Swiss-Prot
      B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8