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

Gene ID: 55144, updated on 8-Jul-2021

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; HsLRRC8D
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

See LRRC8D in Genome Data Viewer
Location:
1p22.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (89821014..89936611)
105.20201022 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 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 Functions

What'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

Pathways from PubChem

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
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
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 integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of ion channel complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in membrane HDA PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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_001134479.2NP_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 Updated Annotation Release 109.20210514

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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