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UniProtKB - Q7L1W4 (LRC8D_HUMAN)

Entry version 155 (02 Dec 2020)
Sequence version 1 (05 Jul 2004)
Previous versions | rss
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Protein

Volume-regulated anion channel subunit LRRC8D

Gene

LRRC8D

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

Non-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:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658, PubMed:28193731). Plays a redundant role in the efflux of amino acids, such as aspartate, in response to osmotic stress (PubMed:28193731). Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24782309, PubMed:24790029, PubMed:26824658, PubMed:28193731). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Mediates the import of the antibiotic blasticidin-S into the cell (PubMed:24782309).5 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 processIon transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q7L1W4

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%5Fand%5Ftaxonomy%5Fsection">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 LRRC8D
Alternative name(s):
Leucine-rich repeat-containing protein 5
Leucine-rich repeat-containing protein 8D
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:LRRC8D
Synonyms:LRRC5
ORF Names:UNQ213/PRO239
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000171492.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:16992, LRRC8D

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612890, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q7L1W4

<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%5Flocation%5Fsection">'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%5Flocation%5Fsection">'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 – 163ExtracellularSequence analysisAdd BLAST120
Transmembranei164 – 184HelicalSequence analysisAdd BLAST21
Topological domaini185 – 318CytoplasmicSequence analysisAdd BLAST134
Transmembranei319 – 339HelicalSequence analysisAdd BLAST21
Topological domaini340 – 364ExtracellularSequence analysisAdd BLAST25
Transmembranei365 – 385HelicalSequence analysisAdd BLAST21
Topological domaini386 – 858CytoplasmicSequence analysisAdd BLAST473

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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 → C: Alters channel anion selectivity. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		55144

Open Targets

More...OpenTargetsi		ENSG00000171492

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30464

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q7L1W4, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		LRRC8D

Domain mapping of disease mutations (DMDM)

More...DMDMi		51701663

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000844931 – 858Volume-regulated anion channel subunit LRRC8DAdd BLAST858

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 ↔ 354By similarity
<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 residuei241PhosphoserineCombined sources1
Modified residuei242PhosphoserineCombined sources1
Modified residuei246PhosphoserineCombined sources1

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q7L1W4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q7L1W4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q7L1W4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q7L1W4

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

More...PaxDbi		Q7L1W4

PeptideAtlas

More...PeptideAtlasi		Q7L1W4

PRoteomics IDEntifications database

More...PRIDEi		Q7L1W4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		68752

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q7L1W4

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q7L1W4, 2 sites, 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q7L1W4

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

More...PhosphoSitePlusi		Q7L1W4

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000171492, Expressed in corpus callosum and 246 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q7L1W4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q7L1W4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000171492, Tissue enhanced (brain)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterohexamer (Probable). Oligomerizes with other LRRC8 proteins (LRRC8A, LRRC8B, LRRC8C and/or LRRC8E) to form a heterohexamer (PubMed:24782309, PubMed:26530471, PubMed:28193731, PubMed:26824658). 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).

Curated5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120447, 14 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q7L1W4

Database of interacting proteins

More...DIPi		DIP-31280N

Protein interaction database and analysis system

More...IntActi		Q7L1W4, 9 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000338887

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q7L1W4, 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

More...SMRi		Q7L1W4

Database of comparative protein structure models

More...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>Repeati514 – 534LRR 1Add BLAST21
Repeati538 – 559LRR 2Add BLAST22
Repeati561 – 582LRR 3Add BLAST22
Repeati589 – 609LRR 4Add BLAST21
Repeati612 – 632LRR 5Add BLAST21
Repeati636 – 657LRR 6Add BLAST22
Repeati659 – 680LRR 7Add BLAST22
Repeati684 – 705LRR 8Add BLAST22
Repeati707 – 728LRR 9Add BLAST22
Repeati730 – 751LRR 10Add BLAST22
Repeati753 – 774LRR 11Add BLAST22
Repeati776 – 797LRR 12Add BLAST22
Repeati799 – 820LRR 13Add BLAST22

<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

More...eggNOGi		KOG0619, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154043

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_019019_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q7L1W4

Identification of Orthologs from Complete Genome Data

More...OMAi		QLFKCVK

Database of Orthologous Groups

More...OrthoDBi		187778at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q7L1W4

TreeFam database of animal gene trees

More...TreeFami		TF331443

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...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, 2 hits
PF12534, Pannexin_like, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00369, LRR_TYP, 7 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51450, LRR, 9 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%5Flength">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>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q7L1W4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MFTLAEVASL NDIQPTYRIL KPWWDVFMDY LAVVMLMVAI FAGTMQLTKD 
        60         70         80         90        100
QVVCLPVLPS PVNSKAHTPP GNAEVTTNIP KMEAATNQDQ DGRTTNDISF 
       110        120        130        140        150
GTSAVTPDIP LRATYPRTDF ALPNQEAKKE KKDPTGRKTN LDFQQYVFIN 
       160        170        180        190        200
QMCYHLALPW YSKYFPYLAL IHTIILMVSS NFWFKYPKTC SKVEHFVSIL 
       210        220        230        240        250
GKCFESPWTT KALSETACED SEENKQRITG AQTLPKHVST SSDEGSPSAS 
       260        270        280        290        300
TPMINKTGFK FSAEKPVIEV PSMTILDKKD GEQAKALFEK VRKFRAHVED 
       310        320        330        340        350
SDLIYKLYVV QTVIKTAKFI FILCYTANFV NAISFEHVCK PKVEHLIGYE 
       360        370        380        390        400
VFECTHNMAY MLKKLLISYI SIICVYGFIC LYTLFWLFRI PLKEYSFEKV 
       410        420        430        440        450
REESSFSDIP DVKNDFAFLL HMVDQYDQLY SKRFGVFLSE VSENKLREIS 
       460        470        480        490        500
LNHEWTFEKL RQHISRNAQD KQELHLFMLS GVPDAVFDLT DLDVLKLELI 
       510        520        530        540        550
PEAKIPAKIS QMTNLQELHL CHCPAKVEQT AFSFLRDHLR CLHVKFTDVA 
       560        570        580        590        600
EIPAWVYLLK NLRELYLIGN LNSENNKMIG LESLRELRHL KILHVKSNLT 
       610        620        630        640        650
KVPSNITDVA PHLTKLVIHN DGTKLLVLNS LKKMMNVAEL ELQNCELERI 
       660        670        680        690        700
PHAIFSLSNL QELDLKSNNI RTIEEIISFQ HLKRLTCLKL WHNKIVTIPP 
       710        720        730        740        750
SITHVKNLES LYFSNNKLES LPVAVFSLQK LRCLDVSYNN ISMIPIEIGL 
       760        770        780        790        800
LQNLQHLHIT GNKVDILPKQ LFKCIKLRTL NLGQNCITSL PEKVGQLSQL 
       810        820        830        840        850
TQLELKGNCL DRLPAQLGQC RMLKKSGLVV EDHLFDTLPL EVKEALNQDI 

NIPFANGI
Length:858
Mass (Da):98,201
Last modified:July 5, 2004 - 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:i52A8B6EEF6F0FE2B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PMF9E9PMF9_HUMAN
Volume-regulated anion channel subu...
LRRC8D
274Annotation score:

Annotation score:1 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>
E9PJS7E9PJS7_HUMAN
Volume-regulated anion channel subu...
LRRC8D
121Annotation score:

Annotation score:1 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>
Q5VWA0Q5VWA0_HUMAN
Volume-regulated anion channel subu...
LRRC8D
116Annotation score:

Annotation score:1 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>
E9PL08E9PL08_HUMAN
Volume-regulated anion channel subu...
LRRC8D
186Annotation score:

Annotation score:1 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>
E9PJ89E9PJ89_HUMAN
Volume-regulated anion channel subu...
LRRC8D
30Annotation score:

Annotation score:1 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>

<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 AAQ89233 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA91631 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_051132371S → Y. Corresponds to variant dbSNP:rs11552246Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AL391497 Genomic DNA No translation available.
CH471097 Genomic DNA Translation: EAW73130.1
CH471097 Genomic DNA Translation: EAW73131.1
CH471097 Genomic DNA Translation: EAW73132.1
BC024159 mRNA Translation: AAH24159.2
AK001332 mRNA Translation: BAA91631.1 Different initiation.
AY358874 mRNA Translation: AAQ89233.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS726.1

NCBI Reference Sequences

More...RefSeqi		NP_001127951.1, NM_001134479.1
NP_060573.2, NM_018103.4
XP_011539991.1, XM_011541689.1
XP_016857088.1, XM_017001599.1
XP_016857089.1, XM_017001600.1
XP_016857090.1, XM_017001601.1
XP_016857091.1, XM_017001602.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000337338; ENSP00000338887; ENSG00000171492
ENST00000394593; ENSP00000378093; ENSG00000171492

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55144

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55144

UCSC genome browser

More...UCSCi		uc001dnm.4, human

Keywords - Coding sequence diversityi

Polymorphism

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL391497 Genomic DNA No translation available.
CH471097 Genomic DNA Translation: EAW73130.1
CH471097 Genomic DNA Translation: EAW73131.1
CH471097 Genomic DNA Translation: EAW73132.1
BC024159 mRNA Translation: AAH24159.2
AK001332 mRNA Translation: BAA91631.1 Different initiation.
AY358874 mRNA Translation: AAQ89233.1 Different initiation.
CCDSiCCDS726.1
RefSeqiNP_001127951.1, NM_001134479.1
NP_060573.2, NM_018103.4
XP_011539991.1, XM_011541689.1
XP_016857088.1, XM_017001599.1
XP_016857089.1, XM_017001600.1
XP_016857090.1, XM_017001601.1
XP_016857091.1, XM_017001602.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6M04electron microscopy4.36A/B/C/D/E/F1-858[»]
SMRiQ7L1W4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120447, 14 interactors
CORUMiQ7L1W4
DIPiDIP-31280N
IntActiQ7L1W4, 9 interactors
STRINGi9606.ENSP00000338887

Protein family/group databases

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

PTM databases

GlyGeniQ7L1W4, 2 sites, 1 O-linked glycan (2 sites)
iPTMnetiQ7L1W4
PhosphoSitePlusiQ7L1W4

Polymorphism and mutation databases

BioMutaiLRRC8D
DMDMi51701663

Proteomic databases

EPDiQ7L1W4
jPOSTiQ7L1W4
MassIVEiQ7L1W4
MaxQBiQ7L1W4
PaxDbiQ7L1W4
PeptideAtlasiQ7L1W4
PRIDEiQ7L1W4
ProteomicsDBi68752
TopDownProteomicsiQ7L1W4

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2631, 48 antibodies

The DNASU plasmid repository

More...DNASUi		55144

Genome annotation databases

EnsembliENST00000337338; ENSP00000338887; ENSG00000171492
ENST00000394593; ENSP00000378093; ENSG00000171492
GeneIDi55144
KEGGihsa:55144
UCSCiuc001dnm.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55144
DisGeNETi55144
EuPathDBiHostDB:ENSG00000171492.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		LRRC8D
HGNCiHGNC:16992, LRRC8D
HPAiENSG00000171492, Tissue enhanced (brain)
MIMi612890, gene
neXtProtiNX_Q7L1W4
OpenTargetsiENSG00000171492
PharmGKBiPA30464

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0619, Eukaryota
GeneTreeiENSGT00940000154043
HOGENOMiCLU_019019_0_0_1
InParanoidiQ7L1W4
OMAiQLFKCVK
OrthoDBi187778at2759
PhylomeDBiQ7L1W4
TreeFamiTF331443

Enzyme and pathway databases

PathwayCommonsiQ7L1W4
ReactomeiR-HSA-5223345, Miscellaneous transport and binding events

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55144, 7 hits in 843 CRISPR screens

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

More...ChiTaRSi		LRRC8D, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		LRRC8D

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

More...GenomeRNAii		55144
PharosiQ7L1W4, Tdark

Protein Ontology

More...PROi		PR:Q7L1W4
RNActiQ7L1W4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000171492, Expressed in corpus callosum and 246 other tissues
ExpressionAtlasiQ7L1W4, baseline and differential
GenevisibleiQ7L1W4, 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, 2 hits
PF12534, Pannexin_like, 1 hit
SMARTiView protein in SMART
SM00369, LRR_TYP, 7 hits
PROSITEiView protein in PROSITE
PS51450, LRR, 9 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiLRC8D_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: Q7L1W4
Secondary accession number(s): D3DT29, Q6UWB2, Q9NVW3
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: July 5, 2004
Last modified: December 2, 2020
This is version 155 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, Reference proteome

Documents

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