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LRRC8A leucine rich repeat containing 8 VRAC subunit A [ Homo sapiens (human) ]

Gene ID: 56262, updated on 3-May-2020

Summary

Official Symbol
LRRC8Aprovided by HGNC
Official Full Name
leucine rich repeat containing 8 VRAC subunit Aprovided by HGNC
Primary source
HGNC:HGNC:19027
See related
Ensembl:ENSG00000136802 MIM:608360
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
Also known as
AGM5; LRRC8; SWELL1
Summary
This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 27.9), esophagus (RPKM 16.9) and 25 other tissues See more
Orthologs

Genomic context

See LRRC8A in Genome Data Viewer
Location:
9q34.11
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (128882133..128918042)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131644391..131680318)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 13 Neighboring gene SPOUT domain containing methyltransferase 1 Neighboring gene endonuclease G Neighboring gene kynurenine aminotransferase 1 Neighboring gene uncharacterized LOC101929291 Neighboring gene phytanoyl-CoA dioxygenase domain containing 1 Neighboring gene dolichol kinase

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10337, FLJ41617, KIAA1437

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to anion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
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 
volume-sensitive anion channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
anion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
anion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
aspartate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aspartate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cell volume homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to osmotic stress IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inorganic anion transport IEA
Inferred from Electronic Annotation
more info
 
pre-B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein hexamerization ISS
Inferred from Sequence or Structural Similarity
more info
 
response to osmotic stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
taurine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
taurine transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
ion channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel complex IDA
Inferred from Direct Assay
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 LRRC8A
Names
leucine rich repeat containing 8 family member A
leucine-rich repeat-containing protein 8A
swelling protein 1

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_009630.1 RefSeqGene

    Range
    5001..40928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_80

mRNA and Protein(s)

  1. NM_001127244.1NP_001120716.1  volume-regulated anion channel subunit LRRC8A

    See identical proteins and their annotated locations for NP_001120716.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All variants (1-3) encode the same protein.
    Source sequence(s)
    AB037858, AK289842, BC051322, CA446287
    Consensus CDS
    CCDS35155.1
    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892, A8K1C7
    Related
    ENSP00000259324.5, ENST00000259324.5
    Conserved Domains (3) summary
    COG4886
    Location:568780
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1340
    Pannexin_like; Pannexin-like TM region of LRRC8
  2. NM_001127245.2NP_001120717.1  volume-regulated anion channel subunit LRRC8A

    See identical proteins and their annotated locations for NP_001120717.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All variants (1-3) encode the same protein.
    Source sequence(s)
    AL672142
    Consensus CDS
    CCDS35155.1
    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Related
    ENSP00000361680.3, ENST00000372599.7
    Conserved Domains (3) summary
    COG4886
    Location:568780
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1340
    Pannexin_like; Pannexin-like TM region of LRRC8
  3. NM_019594.4NP_062540.2  volume-regulated anion channel subunit LRRC8A

    See identical proteins and their annotated locations for NP_062540.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All variants (1-3) encode the same protein.
    Source sequence(s)
    AL672142
    Consensus CDS
    CCDS35155.1
    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Related
    ENSP00000361682.4, ENST00000372600.8
    Conserved Domains (3) summary
    COG4886
    Location:568780
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1340
    Pannexin_like; Pannexin-like TM region of LRRC8

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    128882133..128918042
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518864.2XP_011517166.1  volume-regulated anion channel subunit LRRC8A isoform X1

    See identical proteins and their annotated locations for XP_011517166.1

    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Conserved Domains (3) summary
    COG4886
    Location:568780
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1340
    Pannexin_like; Pannexin-like TM region of LRRC8
  2. XM_005252095.2XP_005252152.1  volume-regulated anion channel subunit LRRC8A isoform X1

    See identical proteins and their annotated locations for XP_005252152.1

    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Conserved Domains (3) summary
    COG4886
    Location:568780
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1340
    Pannexin_like; Pannexin-like TM region of LRRC8
  3. XM_006717186.2XP_006717249.1  volume-regulated anion channel subunit LRRC8A isoform X1

    See identical proteins and their annotated locations for XP_006717249.1

    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Conserved Domains (3) summary
    COG4886
    Location:568780
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1340
    Pannexin_like; Pannexin-like TM region of LRRC8
  4. XM_011518863.1XP_011517165.1  volume-regulated anion channel subunit LRRC8A isoform X1

    See identical proteins and their annotated locations for XP_011517165.1

    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Conserved Domains (3) summary
    COG4886
    Location:568780
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1340
    Pannexin_like; Pannexin-like TM region of LRRC8
  5. XM_005252096.4XP_005252153.1  volume-regulated anion channel subunit LRRC8A isoform X1

    See identical proteins and their annotated locations for XP_005252153.1

    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Conserved Domains (3) summary
    COG4886
    Location:568780
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1340
    Pannexin_like; Pannexin-like TM region of LRRC8
  6. XM_011518865.2XP_011517167.1  volume-regulated anion channel subunit LRRC8A isoform X1

    See identical proteins and their annotated locations for XP_011517167.1

    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Conserved Domains (3) summary
    COG4886
    Location:568780
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1340
    Pannexin_like; Pannexin-like TM region of LRRC8
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