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

Gene ID: 80131, updated on 4-Oct-2020

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
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

Genomic context

See LRRC8E in Genome Data Viewer
Location:
19p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (7888510..7902016)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7953390..7966908)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene LYPLA2 pseudogene 2 Neighboring gene RNA, 5S ribosomal pseudogene 463 Neighboring gene mitogen-activated protein kinase kinase 7 Neighboring gene transforming growth factor beta receptor 3 like

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

Homology

Clone Names

  • FLJ23420

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
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 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
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
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 IMP
Inferred from Mutant Phenotype
more info
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 LRRC8E
Names
leucine rich repeat containing 8 family member E
leucine-rich repeat-containing protein 8E

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.

Genomic

  1. NG_050684.1 RefSeqGene

    Range
    5001..18519
    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
    Q6NSJ5
    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
    Q6NSJ5
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011528319.2XP_011526621.1  volume-regulated anion channel subunit LRRC8E isoform X1

    See identical proteins and their annotated locations for XP_011526621.1

    UniProtKB/Swiss-Prot
    Q6NSJ5
    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
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