Format

Send to:

Choose Destination

LRRC8A leucine-rich repeat containing 8 family member A [ Homo sapiens (human) ]

Gene ID: 56262, updated on 26-May-2016
Official Symbol
LRRC8Aprovided by HGNC
Official Full Name
leucine-rich repeat containing 8 family member Aprovided by HGNC
Primary source
HGNC:HGNC:19027
See related
Ensembl:ENSG00000136802 MIM:608360; Vega:OTTHUMG00000020766
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]
Orthologs
Location:
9q34.11
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (128882112..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 chromosome 9 open reading frame 114 Neighboring gene endonuclease G Neighboring gene kynurenine aminotransferase 1 Neighboring gene uncharacterized LOC101929291 Neighboring gene phytanoyl-CoA dioxygenase domain containing 1 Neighboring gene nucleoporin 188kDa Neighboring gene dolichol kinase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
volume-sensitive anion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
anion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell volume homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
pre-B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of anion transport IEA
Inferred from Electronic Annotation
more info
 
response to osmotic stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
ion channel complex IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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

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, ENST00000259324
    Conserved Domains (4) summary
    pfam12534
    Location:165
    DUF3733; Leucine-rich repeat containing protein 8
    pfam12799
    Location:662702
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:592651
    LRR_8; Leucine rich repeat
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
  2. NM_001127245.1NP_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)
    AB037858, BC051322, CA446287, DA243590
    Consensus CDS
    CCDS35155.1
    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Related
    ENSP00000361680, OTTHUMP00000022309, ENST00000372599, OTTHUMT00000054517
    Conserved Domains (4) summary
    pfam12534
    Location:165
    DUF3733; Leucine-rich repeat containing protein 8
    pfam12799
    Location:662702
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:592651
    LRR_8; Leucine rich repeat
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
  3. NM_019594.3NP_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)
    AB037858, BC051322, CA446287, DA243590
    Consensus CDS
    CCDS35155.1
    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Related
    ENSP00000361682, OTTHUMP00000022308, ENST00000372600, OTTHUMT00000054516
    Conserved Domains (4) summary
    pfam12534
    Location:165
    DUF3733; Leucine-rich repeat containing protein 8
    pfam12799
    Location:662702
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:592651
    LRR_8; Leucine rich repeat
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

    Range
    128882112..128918042
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518864.1XP_011517166.1  

    See identical proteins and their annotated locations for XP_011517166.1

    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Conserved Domains (4) summary
    pfam12534
    Location:165
    DUF3733; Leucine-rich repeat containing protein 8
    pfam12799
    Location:662702
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:592651
    LRR_8; Leucine rich repeat
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
  2. XM_005252095.2XP_005252152.1  

    See identical proteins and their annotated locations for XP_005252152.1

    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Conserved Domains (4) summary
    pfam12534
    Location:165
    DUF3733; Leucine-rich repeat containing protein 8
    pfam12799
    Location:662702
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:592651
    LRR_8; Leucine rich repeat
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
  3. XM_006717186.2XP_006717249.1  

    See identical proteins and their annotated locations for XP_006717249.1

    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Conserved Domains (4) summary
    pfam12534
    Location:165
    DUF3733; Leucine-rich repeat containing protein 8
    pfam12799
    Location:662702
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:592651
    LRR_8; Leucine rich repeat
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
  4. XM_011518863.1XP_011517165.1  

    See identical proteins and their annotated locations for XP_011517165.1

    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Conserved Domains (4) summary
    pfam12534
    Location:165
    DUF3733; Leucine-rich repeat containing protein 8
    pfam12799
    Location:662702
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:592651
    LRR_8; Leucine rich repeat
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
  5. XM_005252096.2XP_005252153.1  

    See identical proteins and their annotated locations for XP_005252153.1

    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Conserved Domains (4) summary
    pfam12534
    Location:165
    DUF3733; Leucine-rich repeat containing protein 8
    pfam12799
    Location:662702
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:592651
    LRR_8; Leucine rich repeat
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
  6. XM_011518865.1XP_011517167.1  

    See identical proteins and their annotated locations for XP_011517167.1

    UniProtKB/Swiss-Prot
    Q8IWT6
    UniProtKB/TrEMBL
    A0A024R892
    Conserved Domains (4) summary
    pfam12534
    Location:165
    DUF3733; Leucine-rich repeat containing protein 8
    pfam12799
    Location:662702
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:592651
    LRR_8; Leucine rich repeat
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    131795371..131831304
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)