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Entry version 167 (11 Dec 2019)
Sequence version 1 (01 Mar 2003)
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Protein

Volume-regulated anion channel subunit LRRC8A

Gene

LRRC8A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731, PubMed:29769723). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731). Mediates efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress (PubMed:28193731). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731). Can form functional channels by itself (in vitro) (PubMed:26824658). Involved in B-cell development: required for the pro-B cell to pre-B cell transition (PubMed:14660746). Also required for T-cell development (By similarity). May play a role in lysosome homeostasis (PubMed:31270356).By similarity8 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel
Biological processDifferentiation, Ion transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5223345 Miscellaneous transport and binding events

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.25.3.1 the gap junction-forming innexin (innexin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Volume-regulated anion channel subunit LRRC8A
Alternative name(s):
Leucine-rich repeat-containing protein 8A
Swelling protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LRRC8A
Synonyms:KIAA1437, LRRC8, SWELL11 Publication
ORF Names:UNQ221/PRO247
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000136802.11

Human Gene Nomenclature Database

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HGNCi
HGNC:19027 LRRC8A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608360 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IWT6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 22CytoplasmicSequence analysisAdd BLAST22
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Topological domaini44 – 123ExtracellularSequence analysisAdd BLAST80
Transmembranei124 – 146HelicalSequence analysisAdd BLAST23
Topological domaini147 – 262CytoplasmicSequence analysisAdd BLAST116
Transmembranei263 – 285HelicalSequence analysisAdd BLAST23
Topological domaini286 – 319ExtracellularSequence analysisAdd BLAST34
Transmembranei320 – 342HelicalSequence analysisAdd BLAST23
Topological domaini343 – 810Cytoplasmic1 PublicationAdd BLAST468

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Agammaglobulinemia 5, autosomal dominant (AGM5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains.
Disease descriptionA primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi44T → A or C: Altered anion selectivity. 1 Publication1
Mutagenesisi66N → A: Abolishes N-glycosylation; when associated with A-83. 1 Publication1
Mutagenesisi83N → A: Abolishes N-glycosylation; when associated with A-66. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
56262

MalaCards human disease database

More...
MalaCardsi
LRRC8A
MIMi613506 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000136802

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
33110 Autosomal agammaglobulinemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134909315

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IWT6 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LRRC8A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
37537912

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000844991 – 810Volume-regulated anion channel subunit LRRC8AAdd BLAST810

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi54 ↔ 310By similarity
Disulfide bondi57 ↔ 65By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi66N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi83N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi113 ↔ 295By similarity
Modified residuei200PhosphothreonineBy similarity1
Modified residuei202PhosphoserineBy similarity1
Modified residuei215PhosphothreonineCombined sources1
Modified residuei217PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Acetylation, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8IWT6

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8IWT6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8IWT6

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8IWT6

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8IWT6

PeptideAtlas

More...
PeptideAtlasi
Q8IWT6

PRoteomics IDEntifications database

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PRIDEi
Q8IWT6

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
70893

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IWT6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8IWT6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells. Expressed on T-cells as well as on B-lineage cells.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000136802 Expressed in 202 organ(s), highest expression level in substantia nigra

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IWT6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IWT6 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Hexamer (By similarity). Heterohexamer; oligomerizes with other LRRC8 proteins (LRRC8B, LRRC8C, LRRC8D and/or LRRC8E) to form a heterohexamer (PubMed:24782309, PubMed:24790029, PubMed:26824658). Can form homohexamers in vitro, but these have lower conductance than heterohexamers (PubMed:26824658). Detected in a channel complex that contains LRRC8A, LRRC8C and LRRC8E (PubMed:28193731). In vivo, the subunit composition may depend primarily on expression levels, and heterooligomeric channels containing various proportions of the different LRRC8 proteins may coexist (Probable).

By similarityCurated4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121126, 34 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q8IWT6

Database of interacting proteins

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DIPi
DIP-61360N

Protein interaction database and analysis system

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IntActi
Q8IWT6, 22 interactors

Molecular INTeraction database

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MINTi
Q8IWT6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000259324

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8IWT6 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8IWT6

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati399 – 422LRR 1Sequence analysisAdd BLAST24
Repeati423 – 445LRR 2Sequence analysisAdd BLAST23
Repeati447 – 468LRR 3Sequence analysisAdd BLAST22
Repeati469 – 492LRR 4Sequence analysisAdd BLAST24
Repeati493 – 515LRR 5Sequence analysisAdd BLAST23
Repeati518 – 542LRR 6Sequence analysisAdd BLAST25
Repeati543 – 565LRR 7Sequence analysisAdd BLAST23
Repeati567 – 589LRR 8Sequence analysisAdd BLAST23
Repeati590 – 613LRR 9Sequence analysisAdd BLAST24
Repeati615 – 637LRR 10Sequence analysisAdd BLAST23
Repeati639 – 661LRR 11Sequence analysisAdd BLAST23
Repeati662 – 684LRR 12Sequence analysisAdd BLAST23
Repeati686 – 707LRR 13Sequence analysisAdd BLAST22
Repeati708 – 730LRR 14Sequence analysisAdd BLAST23
Repeati732 – 753LRR 15Sequence analysisAdd BLAST22
Repeati754 – 776LRR 16Sequence analysisAdd BLAST23
Repeati778 – 801LRR 17Sequence analysisAdd BLAST24

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the LRRC8 family.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0619 Eukaryota
COG4886 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154043

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231806

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IWT6

KEGG Orthology (KO)

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KOi
K22038

Identification of Orthologs from Complete Genome Data

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OMAi
NELFQCK

Database of Orthologous Groups

More...
OrthoDBi
158390at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IWT6

TreeFam database of animal gene trees

More...
TreeFami
TF331443

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.80.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR021040 LRRC8_Pannexin-like

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13855 LRR_8, 3 hits
PF12534 Pannexin_like, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00369 LRR_TYP, 8 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51450 LRR, 11 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q8IWT6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MIPVTELRYF ADTQPAYRIL KPWWDVFTDY ISIVMLMIAV FGGTLQVTQD
60 70 80 90 100
KMICLPCKWV TKDSCNDSFR GWAAPGPEPT YPNSTILPTP DTGPTGIKYD
110 120 130 140 150
LDRHQYNYVD AVCYENRLHW FAKYFPYLVL LHTLIFLACS NFWFKFPRTS
160 170 180 190 200
SKLEHFVSIL LKCFDSPWTT RALSETVVEE SDPKPAFSKM NGSMDKKSST
210 220 230 240 250
VSEDVEATVP MLQRTKSRIE QGIVDRSETG VLDKKEGEQA KALFEKVKKF
260 270 280 290 300
RTHVEEGDIV YRLYMRQTII KVIKFILIIC YTVYYVHNIK FDVDCTVDIE
310 320 330 340 350
SLTGYRTYRC AHPLATLFKI LASFYISLVI FYGLICMYTL WWMLRRSLKK
360 370 380 390 400
YSFESIREES SYSDIPDVKN DFAFMLHLID QYDPLYSKRF AVFLSEVSEN
410 420 430 440 450
KLRQLNLNNE WTLDKLRQRL TKNAQDKLEL HLFMLSGIPD TVFDLVELEV
460 470 480 490 500
LKLELIPDVT IPPSIAQLTG LKELWLYHTA AKIEAPALAF LRENLRALHI
510 520 530 540 550
KFTDIKEIPL WIYSLKTLEE LHLTGNLSAE NNRYIVIDGL RELKRLKVLR
560 570 580 590 600
LKSNLSKLPQ VVTDVGVHLQ KLSINNEGTK LIVLNSLKKM ANLTELELIR
610 620 630 640 650
CDLERIPHSI FSLHNLQEID LKDNNLKTIE EIISFQHLHR LTCLKLWYNH
660 670 680 690 700
IAYIPIQIGN LTNLERLYLN RNKIEKIPTQ LFYCRKLRYL DLSHNNLTFL
710 720 730 740 750
PADIGLLQNL QNLAITANRI ETLPPELFQC RKLRALHLGN NVLQSLPSRV
760 770 780 790 800
GELTNLTQIE LRGNRLECLP VELGECPLLK RSGLVVEEDL FNTLPPEVKE
810
RLWRADKEQA
Length:810
Mass (Da):94,199
Last modified:March 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE0C5E6EBEE8275E8
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAQ88653 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA92675 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC11161 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti323S → P in BAC11161 (PubMed:14702039).Curated1
Sequence conflicti744Q → R in BAC11161 (PubMed:14702039).Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY143166 mRNA Translation: AAN18279.1
AB037858 mRNA Translation: BAA92675.1 Different initiation.
AL672142 Genomic DNA No translation available.
BC051322 mRNA Translation: AAH51322.1
AY358286 mRNA Translation: AAQ88653.1 Different initiation.
AK074723 mRNA Translation: BAC11161.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS35155.1

NCBI Reference Sequences

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RefSeqi
NP_001120716.1, NM_001127244.1
NP_001120717.1, NM_001127245.1
NP_062540.2, NM_019594.3
XP_005252152.1, XM_005252095.2
XP_005252153.1, XM_005252096.3
XP_006717249.1, XM_006717186.2
XP_011517165.1, XM_011518863.1
XP_011517166.1, XM_011518864.2
XP_011517167.1, XM_011518865.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000259324; ENSP00000259324; ENSG00000136802
ENST00000372599; ENSP00000361680; ENSG00000136802
ENST00000372600; ENSP00000361682; ENSG00000136802

Database of genes from NCBI RefSeq genomes

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GeneIDi
56262

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:56262

UCSC genome browser

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UCSCi
uc004bwl.5 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

LRRC8Abase

LRRC8A mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY143166 mRNA Translation: AAN18279.1
AB037858 mRNA Translation: BAA92675.1 Different initiation.
AL672142 Genomic DNA No translation available.
BC051322 mRNA Translation: AAH51322.1
AY358286 mRNA Translation: AAQ88653.1 Different initiation.
AK074723 mRNA Translation: BAC11161.1 Different initiation.
CCDSiCCDS35155.1
RefSeqiNP_001120716.1, NM_001127244.1
NP_001120717.1, NM_001127245.1
NP_062540.2, NM_019594.3
XP_005252152.1, XM_005252095.2
XP_005252153.1, XM_005252096.3
XP_006717249.1, XM_006717186.2
XP_011517165.1, XM_011518863.1
XP_011517166.1, XM_011518864.2
XP_011517167.1, XM_011518865.2

3D structure databases

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Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5ZSUelectron microscopy4.25A/B/C/D/E/F1-810[»]
6DJBelectron microscopy4.40A/B/C/D/E/F1-810[»]
SMRiQ8IWT6
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi121126, 34 interactors
CORUMiQ8IWT6
DIPiDIP-61360N
IntActiQ8IWT6, 22 interactors
MINTiQ8IWT6
STRINGi9606.ENSP00000259324

Protein family/group databases

TCDBi1.A.25.3.1 the gap junction-forming innexin (innexin) family

PTM databases

iPTMnetiQ8IWT6
PhosphoSitePlusiQ8IWT6

Polymorphism and mutation databases

BioMutaiLRRC8A
DMDMi37537912

Proteomic databases

EPDiQ8IWT6
jPOSTiQ8IWT6
MassIVEiQ8IWT6
MaxQBiQ8IWT6
PaxDbiQ8IWT6
PeptideAtlasiQ8IWT6
PRIDEiQ8IWT6
ProteomicsDBi70893

Genome annotation databases

EnsembliENST00000259324; ENSP00000259324; ENSG00000136802
ENST00000372599; ENSP00000361680; ENSG00000136802
ENST00000372600; ENSP00000361682; ENSG00000136802
GeneIDi56262
KEGGihsa:56262
UCSCiuc004bwl.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
56262
DisGeNETi56262
EuPathDBiHostDB:ENSG00000136802.11

GeneCards: human genes, protein and diseases

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GeneCardsi
LRRC8A
HGNCiHGNC:19027 LRRC8A
MalaCardsiLRRC8A
MIMi608360 gene
613506 phenotype
neXtProtiNX_Q8IWT6
OpenTargetsiENSG00000136802
Orphaneti33110 Autosomal agammaglobulinemia
PharmGKBiPA134909315

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00940000154043
HOGENOMiHOG000231806
InParanoidiQ8IWT6
KOiK22038
OMAiNELFQCK
OrthoDBi158390at2759
PhylomeDBiQ8IWT6
TreeFamiTF331443

Enzyme and pathway databases

ReactomeiR-HSA-5223345 Miscellaneous transport and binding events

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
LRRC8A human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LRRC8A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
56262
PharosiQ8IWT6 Tbio

Protein Ontology

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PROi
PR:Q8IWT6
RNActiQ8IWT6 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000136802 Expressed in 202 organ(s), highest expression level in substantia nigra
ExpressionAtlasiQ8IWT6 baseline and differential
GenevisibleiQ8IWT6 HS

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR021040 LRRC8_Pannexin-like
PfamiView protein in Pfam
PF13855 LRR_8, 3 hits
PF12534 Pannexin_like, 1 hit
SMARTiView protein in SMART
SM00369 LRR_TYP, 8 hits
PROSITEiView protein in PROSITE
PS51450 LRR, 11 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLRC8A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IWT6
Secondary accession number(s): Q6UXM2, Q8NCI0, Q9P2B1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: March 1, 2003
Last modified: December 11, 2019
This is version 167 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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