Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Volume-regulated anion channel subunit LRRC8E

Gene

LRRC8E

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658). Mediates 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:24790029, PubMed:26824658, PubMed:28193731).3 Publications

GO - Molecular functioni

  • volume-sensitive anion channel activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionIon channel
Biological processIon transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-5223345 Miscellaneous transport and binding events

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Volume-regulated anion channel subunit LRRC8E
Alternative name(s):
Leucine-rich repeat-containing protein 8E
Gene namesi
Name:LRRC8E
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000171017.10
HGNCiHGNC:26272 LRRC8E
MIMi612891 gene
neXtProtiNX_Q6NSJ5

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 22CytoplasmicSequence analysisAdd BLAST22
Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Topological domaini44 – 116ExtracellularSequence analysisAdd BLAST73
Transmembranei117 – 137HelicalSequence analysisAdd BLAST21
Topological domaini138 – 265CytoplasmicSequence analysisAdd BLAST128
Transmembranei266 – 286HelicalSequence analysisAdd BLAST21
Topological domaini287 – 313ExtracellularSequence analysisAdd BLAST27
Transmembranei314 – 334HelicalSequence analysisAdd BLAST21
Topological domaini335 – 796CytoplasmicSequence analysisAdd BLAST462

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi44T → C: Alters channel anion selectivity. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000171017
PharmGKBiPA142671537

Polymorphism and mutation databases

BioMutaiLRRC8E
DMDMi296434573

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000762501 – 796Volume-regulated anion channel subunit LRRC8EAdd BLAST796

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi54 ↔ 301By similarity
Glycosylationi63N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi302N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ6NSJ5
MaxQBiQ6NSJ5
PaxDbiQ6NSJ5
PeptideAtlasiQ6NSJ5
PRIDEiQ6NSJ5
ProteomicsDBi66639

PTM databases

iPTMnetiQ6NSJ5
PhosphoSitePlusiQ6NSJ5

Expressioni

Gene expression databases

BgeeiENSG00000171017 Expressed in 115 organ(s), highest expression level in secondary oocyte
CleanExiHS_LRRC8E
ExpressionAtlasiQ6NSJ5 baseline and differential
GenevisibleiQ6NSJ5 HS

Organism-specific databases

HPAiHPA020466

Interactioni

Subunit structurei

Heterohexamer (Probable). Oligomerizes with other LRRC8 proteins (LRRC8A, LRRC8C, LRRC8D and/or LRRC8B) to form a heterohexamer (PubMed:24790029, PubMed:26824658, PubMed:28193731). 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).Curated3 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi123131, 30 interactors
CORUMiQ6NSJ5
DIPiDIP-61363N
IntActiQ6NSJ5, 6 interactors
MINTiQ6NSJ5
STRINGi9606.ENSP00000306524

Structurei

3D structure databases

ProteinModelPortaliQ6NSJ5
SMRiQ6NSJ5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati508 – 529LRR 1Add BLAST22
Repeati536 – 557LRR 2Add BLAST22
Repeati559 – 579LRR 3Add BLAST21
Repeati583 – 604LRR 4Add BLAST22
Repeati606 – 627LRR 5Add BLAST22
Repeati631 – 652LRR 6Add BLAST22
Repeati654 – 675LRR 7Add BLAST22
Repeati677 – 698LRR 8Add BLAST22
Repeati700 – 721LRR 9Add BLAST22
Repeati723 – 744LRR 10Add BLAST22
Repeati746 – 767LRR 11Add BLAST22

Sequence similaritiesi

Belongs to the LRRC8 family.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00930000150868
HOGENOMiHOG000231806
HOVERGENiHBG052360
InParanoidiQ6NSJ5
KOiK22038
OMAiINQLCYE
OrthoDBiEOG091G01ER
PhylomeDBiQ6NSJ5
TreeFamiTF331443

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
IPR038960 LRRC8
IPR021040 LRRC8_Pannexin-like
PANTHERiPTHR43945 PTHR43945, 1 hit
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, 8 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q6NSJ5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MIPVAEFKQF TEQQPAFKVL KPWWDVLAEY LTVAMLMIGV FGCTLQVTQD
60 70 80 90 100
KIICLPNHEL QENLSEAPCQ QLLPRGIPEQ IGALQEVKGL KNNLDLQQYS
110 120 130 140 150
FINQLCYETA LHWYAKYFPY LVVIHTLIFM VCTSFWFKFP GTSSKIEHFI
160 170 180 190 200
SILGKCFDSP WTTRALSEVS GENQKGPAAT ERAAATIVAM AGTGPGKAGE
210 220 230 240 250
GEKEKVLAEP EKVVTEPPVV TLLDKKEGEQ AKALFEKVKK FRMHVEEGDI
260 270 280 290 300
LYTMYIRQTV LKVCKFLAIL VYNLVYVEKI SFLVACRVET SEVTGYASFC
310 320 330 340 350
CNHTKAHLFS KLAFCYISFV CIYGLTCIYT LYWLFHRPLK EYSFRSVREE
360 370 380 390 400
TGMGDIPDVK NDFAFMLHLI DQYDSLYSKR FAVFLSEVSE SRLKQLNLNH
410 420 430 440 450
EWTPEKLRQK LQRNAAGRLE LALCMLPGLP DTVFELSEVE SLRLEAICDI
460 470 480 490 500
TFPPGLSQLV HLQELSLLHS PARLPFSLQV FLRDHLKVMR VKCEELREVP
510 520 530 540 550
LWVFGLRGLE ELHLEGLFPQ ELARAATLES LRELKQLKVL SLRSNAGKVP
560 570 580 590 600
ASVTDVAGHL QRLSLHNDGA RLVALNSLKK LAALRELELV ACGLERIPHA
610 620 630 640 650
VFSLGALQEL DLKDNHLRSI EEILSFQHCR KLVTLRLWHN QIAYVPEHVR
660 670 680 690 700
KLRSLEQLYL SYNKLETLPS QLGLCSGLRL LDVSHNGLHS LPPEVGLLQN
710 720 730 740 750
LQHLALSYNA LEALPEELFF CRKLRTLLLG DNQLSQLSPH VGALRALSRL
760 770 780 790
ELKGNRLEAL PEELGNCGGL KKAGLLVEDT LYQGLPAEVR DKMEEE
Length:796
Mass (Da):90,247
Last modified:May 18, 2010 - v2
Checksum:iCB23AF612D1472C6
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R2K8M0R2K8_HUMAN
Volume-regulated anion channel subu...
LRRC8E
95Annotation score:
M0QZ48M0QZ48_HUMAN
Volume-regulated anion channel subu...
LRRC8E
187Annotation score:
M0R2D8M0R2D8_HUMAN
Volume-regulated anion channel subu...
LRRC8E
137Annotation score:
M0R3C1M0R3C1_HUMAN
Volume-regulated anion channel subu...
LRRC8E
73Annotation score:

Sequence cautioni

The sequence BAB15648 differs from that shown. Contaminating sequence.Curated
The sequence BAB15648 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti31L → P in BX538180 (PubMed:17974005).Curated1
Sequence conflicti115A → T in AAH70089 (PubMed:15489334).Curated1
Sequence conflicti244H → R in BX538180 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060437160P → L. Corresponds to variant dbSNP:rs3745377Ensembl.1
Natural variantiVAR_059695181E → G. Corresponds to variant dbSNP:rs2042919Ensembl.1
Natural variantiVAR_059696190M → T1 PublicationCorresponds to variant dbSNP:rs2115108Ensembl.1
Natural variantiVAR_056930433V → I. Corresponds to variant dbSNP:rs36038711Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027073 mRNA Translation: BAB15648.1 Sequence problems.
AK091134 mRNA Translation: BAG52290.1
AL834474 mRNA Translation: CAD39133.1
BX538180 mRNA No translation available.
AC010336 Genomic DNA No translation available.
CH471139 Genomic DNA Translation: EAW68969.1
BC022216 mRNA Translation: AAH22216.2
BC070089 mRNA Translation: AAH70089.1
BC108252 mRNA Translation: AAI08253.1
CCDSiCCDS12189.1
RefSeqiNP_001255213.1, NM_001268284.2
NP_001255214.1, NM_001268285.2
NP_079337.2, NM_025061.5
XP_011526621.1, XM_011528319.2
UniGeneiHs.501511

Genome annotation databases

EnsembliENST00000306708; ENSP00000306524; ENSG00000171017
ENST00000618098; ENSP00000479953; ENSG00000171017
GeneIDi80131
KEGGihsa:80131
UCSCiuc002mir.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027073 mRNA Translation: BAB15648.1 Sequence problems.
AK091134 mRNA Translation: BAG52290.1
AL834474 mRNA Translation: CAD39133.1
BX538180 mRNA No translation available.
AC010336 Genomic DNA No translation available.
CH471139 Genomic DNA Translation: EAW68969.1
BC022216 mRNA Translation: AAH22216.2
BC070089 mRNA Translation: AAH70089.1
BC108252 mRNA Translation: AAI08253.1
CCDSiCCDS12189.1
RefSeqiNP_001255213.1, NM_001268284.2
NP_001255214.1, NM_001268285.2
NP_079337.2, NM_025061.5
XP_011526621.1, XM_011528319.2
UniGeneiHs.501511

3D structure databases

ProteinModelPortaliQ6NSJ5
SMRiQ6NSJ5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123131, 30 interactors
CORUMiQ6NSJ5
DIPiDIP-61363N
IntActiQ6NSJ5, 6 interactors
MINTiQ6NSJ5
STRINGi9606.ENSP00000306524

Protein family/group databases

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

PTM databases

iPTMnetiQ6NSJ5
PhosphoSitePlusiQ6NSJ5

Polymorphism and mutation databases

BioMutaiLRRC8E
DMDMi296434573

Proteomic databases

EPDiQ6NSJ5
MaxQBiQ6NSJ5
PaxDbiQ6NSJ5
PeptideAtlasiQ6NSJ5
PRIDEiQ6NSJ5
ProteomicsDBi66639

Protocols and materials databases

DNASUi80131
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306708; ENSP00000306524; ENSG00000171017
ENST00000618098; ENSP00000479953; ENSG00000171017
GeneIDi80131
KEGGihsa:80131
UCSCiuc002mir.4 human

Organism-specific databases

CTDi80131
EuPathDBiHostDB:ENSG00000171017.10
GeneCardsiLRRC8E
H-InvDBiHIX0202737
HGNCiHGNC:26272 LRRC8E
HPAiHPA020466
MIMi612891 gene
neXtProtiNX_Q6NSJ5
OpenTargetsiENSG00000171017
PharmGKBiPA142671537
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00930000150868
HOGENOMiHOG000231806
HOVERGENiHBG052360
InParanoidiQ6NSJ5
KOiK22038
OMAiINQLCYE
OrthoDBiEOG091G01ER
PhylomeDBiQ6NSJ5
TreeFamiTF331443

Enzyme and pathway databases

ReactomeiR-HSA-5223345 Miscellaneous transport and binding events

Miscellaneous databases

GeneWikiiLRRC8E
GenomeRNAii80131
PROiPR:Q6NSJ5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171017 Expressed in 115 organ(s), highest expression level in secondary oocyte
CleanExiHS_LRRC8E
ExpressionAtlasiQ6NSJ5 baseline and differential
GenevisibleiQ6NSJ5 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
IPR038960 LRRC8
IPR021040 LRRC8_Pannexin-like
PANTHERiPTHR43945 PTHR43945, 1 hit
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, 8 hits
ProtoNetiSearch...

Entry informationi

Entry nameiLRC8E_HUMAN
AccessioniPrimary (citable) accession number: Q6NSJ5
Secondary accession number(s): B3KR78
, Q2YDY3, Q7L236, Q8N3B0, Q9H5H8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 7, 2006
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 139 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again