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Protein

Volume-regulated anion channel subunit LRRC8E

Gene

LRRC8E

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition.2 Publications

GO - Molecular functioni

  • volume-sensitive anion channel activity Source: UniProtKB

GO - Biological processi

  • anion transmembrane transport Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

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

HGNCiHGNC:26272. LRRC8E.

Subcellular locationi

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

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of plasma membrane Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

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
Glycosylationi63N-linked (GlcNAc...)Sequence analysis1
Glycosylationi302N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ6NSJ5.
MaxQBiQ6NSJ5.
PaxDbiQ6NSJ5.
PeptideAtlasiQ6NSJ5.
PRIDEiQ6NSJ5.

PTM databases

iPTMnetiQ6NSJ5.
PhosphoSitePlusiQ6NSJ5.

Expressioni

Gene expression databases

BgeeiENSG00000171017.
CleanExiHS_LRRC8E.
ExpressionAtlasiQ6NSJ5. baseline and differential.
GenevisibleiQ6NSJ5. HS.

Organism-specific databases

HPAiHPA020466.

Interactioni

Subunit structurei

Heterooligomer; heterooligomerizes with other LRRC8 proteins (LRRC8A, LRRC8C, LRRC8D and/or LRRC8B), possibly to form a heterohexamer (PubMed:24790029, 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).Curated2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
TRIM2Q9C0403EBI-8647013,EBI-749840

Protein-protein interaction databases

BioGridi123131. 18 interactors.
DIPiDIP-61363N.
IntActiQ6NSJ5. 4 interactors.
STRINGi9606.ENSP00000306524.

Structurei

3D structure databases

ProteinModelPortaliQ6NSJ5.
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
Contains 11 LRR (leucine-rich) repeats.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129676.
HOGENOMiHOG000231806.
HOVERGENiHBG052360.
InParanoidiQ6NSJ5.
OMAiFINQLCY.
OrthoDBiEOG091G01ER.
PhylomeDBiQ6NSJ5.
TreeFamiTF331443.

Family and domain databases

Gene3Di3.80.10.10. 3 hits.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR021040. LRRC8_Pannexin-like.
[Graphical view]
PfamiPF13855. LRR_8. 2 hits.
PF12534. Pannexin_like. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 7 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 8 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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 rs3745377dbSNPEnsembl.1
Natural variantiVAR_059695181E → G.Corresponds to variant rs2042919dbSNPEnsembl.1
Natural variantiVAR_059696190M → T.1 PublicationCorresponds to variant rs2115108dbSNPEnsembl.1
Natural variantiVAR_056930433V → I.Corresponds to variant rs36038711dbSNPEnsembl.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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123131. 18 interactors.
DIPiDIP-61363N.
IntActiQ6NSJ5. 4 interactors.
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.

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.
GeneCardsiLRRC8E.
H-InvDBHIX0202737.
HGNCiHGNC:26272. LRRC8E.
HPAiHPA020466.
MIMi612891. gene.
neXtProtiNX_Q6NSJ5.
OpenTargetsiENSG00000171017.
PharmGKBiPA142671537.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129676.
HOGENOMiHOG000231806.
HOVERGENiHBG052360.
InParanoidiQ6NSJ5.
OMAiFINQLCY.
OrthoDBiEOG091G01ER.
PhylomeDBiQ6NSJ5.
TreeFamiTF331443.

Miscellaneous databases

GeneWikiiLRRC8E.
GenomeRNAii80131.
PROiQ6NSJ5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171017.
CleanExiHS_LRRC8E.
ExpressionAtlasiQ6NSJ5. baseline and differential.
GenevisibleiQ6NSJ5. HS.

Family and domain databases

Gene3Di3.80.10.10. 3 hits.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR021040. LRRC8_Pannexin-like.
[Graphical view]
PfamiPF13855. LRR_8. 2 hits.
PF12534. Pannexin_like. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 7 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 8 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLRC8E_HUMAN
AccessioniPrimary (citable) accession number: Q6NSJ5
Secondary accession number(s): B3KR78
, Q2YDY3, Q7L236, Q8N3B0, Q9H5H8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 7, 2006
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 121 of the entry and version 2 of the sequence. [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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.