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

    Gene ID: 56262, updated on 26-Jul-2021

    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; HsLRRC8A
    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
    NEW
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    Genomic context

    See LRRC8A in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (128882133..128918042)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131644412..131680318)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene SPOUT domain containing methyltransferase 1 Neighboring gene endonuclease G Neighboring gene kynurenine aminotransferase 1 Neighboring gene Sharpr-MPRA regulatory region 7409 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 
    enables cyclic-GMP-AMP transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 
    enables volume-sensitive anion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables volume-sensitive anion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in anion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in anion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in anion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in anion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in aspartate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell volume homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell volume homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cyclic-GMP-AMP transmembrane import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of insulin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of myoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pre-B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein hexamerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein hexamerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in taurine transport IEA
    Inferred from Electronic Annotation
    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)

    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_009630.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001127244.2NP_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)
      AL672142
      Consensus CDS
      CCDS35155.1
      UniProtKB/Swiss-Prot
      Q8IWT6
      UniProtKB/TrEMBL
      A0A024R892, A8K1C7
      Related
      ENSP00000259324.5, ENST00000259324.5
      Conserved Domains (4) summary
      COG4886
      Location:568780
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:546568
      LRR_RI; leucine-rich repeat [structural motif]
      NF033189
      Location:379713
      internalin_A; class 1 internalin InlA
      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 (4) summary
      COG4886
      Location:568780
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:546568
      LRR_RI; leucine-rich repeat [structural motif]
      NF033189
      Location:379713
      internalin_A; class 1 internalin InlA
      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, ENST00000372600.9
      Conserved Domains (4) summary
      COG4886
      Location:568780
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:546568
      LRR_RI; leucine-rich repeat [structural motif]
      NF033189
      Location:379713
      internalin_A; class 1 internalin InlA
      pfam12534
      Location:1340
      Pannexin_like; Pannexin-like TM region of LRRC8

    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_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 (4) summary
      COG4886
      Location:568780
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:546568
      LRR_RI; leucine-rich repeat [structural motif]
      NF033189
      Location:379713
      internalin_A; class 1 internalin InlA
      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 (4) summary
      COG4886
      Location:568780
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:546568
      LRR_RI; leucine-rich repeat [structural motif]
      NF033189
      Location:379713
      internalin_A; class 1 internalin InlA
      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 (4) summary
      COG4886
      Location:568780
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:546568
      LRR_RI; leucine-rich repeat [structural motif]
      NF033189
      Location:379713
      internalin_A; class 1 internalin InlA
      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 (4) summary
      COG4886
      Location:568780
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:546568
      LRR_RI; leucine-rich repeat [structural motif]
      NF033189
      Location:379713
      internalin_A; class 1 internalin InlA
      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 (4) summary
      COG4886
      Location:568780
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:546568
      LRR_RI; leucine-rich repeat [structural motif]
      NF033189
      Location:379713
      internalin_A; class 1 internalin InlA
      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 (4) summary
      COG4886
      Location:568780
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:546568
      LRR_RI; leucine-rich repeat [structural motif]
      NF033189
      Location:379713
      internalin_A; class 1 internalin InlA
      pfam12534
      Location:1340
      Pannexin_like; Pannexin-like TM region of LRRC8
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