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

Gene ID: 56262, updated on 16-Apr-2024

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; AllianceGenome:HGNC:19027
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
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Genomic context

Location:
9q34.11
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128882133..128918039)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (141086880..141122794)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131644412..131680318)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20352 Neighboring gene TBC1 domain family member 13 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131574071-131574244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131581177-131581742 Neighboring gene KYAT1-SPOUT1 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131590537-131591467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29093 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131592801-131593024 Neighboring gene SPOUT domain containing methyltransferase 1 Neighboring gene endonuclease G Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131600611-131601111 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131607420-131607646 Neighboring gene kynurenine aminotransferase 1 Neighboring gene Sharpr-MPRA regulatory region 9337 Neighboring gene Sharpr-MPRA regulatory region 7409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20355 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131647725-131648487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131654523-131655130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29095 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131666020-131666192 Neighboring gene uncharacterized LOC101929291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131672021-131672804 Neighboring gene Sharpr-MPRA regulatory region 12425 Neighboring gene phytanoyl-CoA dioxygenase domain containing 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131704025-131704223 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131708642-131709204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131709205-131709766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:131709767-131710328 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

Clone Names

  • FLJ10337, FLJ41617, KIAA1437

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
contributes_to monoatomic anion channel activity IMP
Inferred from Mutant Phenotype
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 aspartate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
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 chloride transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cyclic-GMP-AMP transmembrane import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cyclic-GMP-AMP transmembrane import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intracellular glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in monoatomic anion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in monoatomic anion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in monoatomic anion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in monoatomic anion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in monoatomic anion transport IMP
Inferred from Mutant Phenotype
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 transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane HDA PubMed 
located_in 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 IDA
Inferred from Direct Assay
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in 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)

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
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
    UniProtKB/TrEMBL
    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
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
    UniProtKB/TrEMBL
    A8K1C7
    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
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
    UniProtKB/TrEMBL
    A8K1C7
    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: 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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    128882133..128918039
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423596.1XP_047279552.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  2. XM_047423597.1XP_047279553.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  3. XM_011518864.3XP_011517166.1  volume-regulated anion channel subunit LRRC8A isoform X1

    See identical proteins and their annotated locations for XP_011517166.1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
    UniProtKB/TrEMBL
    A8K1C7
    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_005252096.5XP_005252153.1  volume-regulated anion channel subunit LRRC8A isoform X1

    See identical proteins and their annotated locations for XP_005252153.1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
    UniProtKB/TrEMBL
    A8K1C7
    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_006717186.3XP_006717249.1  volume-regulated anion channel subunit LRRC8A isoform X1

    See identical proteins and their annotated locations for XP_006717249.1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
    UniProtKB/TrEMBL
    A8K1C7
    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_047423601.1XP_047279557.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  7. XM_047423599.1XP_047279555.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  8. XM_005252095.3XP_005252152.1  volume-regulated anion channel subunit LRRC8A isoform X1

    See identical proteins and their annotated locations for XP_005252152.1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
    UniProtKB/TrEMBL
    A8K1C7
    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
  9. XM_011518863.2XP_011517165.1  volume-regulated anion channel subunit LRRC8A isoform X1

    See identical proteins and their annotated locations for XP_011517165.1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
    UniProtKB/TrEMBL
    A8K1C7
    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
  10. XM_047423598.1XP_047279554.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  11. XM_047423595.1XP_047279551.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  12. XM_047423600.1XP_047279556.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    141086880..141122794
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363296.1XP_054219271.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  2. XM_054363297.1XP_054219272.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  3. XM_054363295.1XP_054219270.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  4. XM_054363290.1XP_054219265.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  5. XM_054363294.1XP_054219269.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  6. XM_054363293.1XP_054219268.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  7. XM_054363301.1XP_054219276.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  8. XM_054363299.1XP_054219274.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  9. XM_054363292.1XP_054219267.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  10. XM_054363298.1XP_054219273.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  11. XM_054363291.1XP_054219266.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1
  12. XM_054363300.1XP_054219275.1  volume-regulated anion channel subunit LRRC8A isoform X1

    UniProtKB/Swiss-Prot
    Q6UXM2, Q8IWT6, Q8NCI0, Q9P2B1