UniProtKB - Q96L42 (KCNH8_HUMAN)
Protein
Potassium voltage-gated channel subfamily H member 8
Gene
KCNH8
Organism
Homo sapiens (Human)
Status
Functioni
Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 551 – 668 | cNMPAdd BLAST | 118 |
GO - Molecular functioni
- voltage-gated potassium channel activity Source: GO_Central
GO - Biological processi
- potassium ion transmembrane transport Source: GO_Central
- regulation of ion transmembrane transport Source: UniProtKB-KW
- regulation of membrane potential Source: GO_Central
Keywordsi
Molecular function | Ion channel, Potassium channel, Voltage-gated channel |
Biological process | Ion transport, Potassium transport, Transport |
Ligand | Potassium |
Enzyme and pathway databases
PathwayCommonsi | Q96L42 |
Reactomei | R-HSA-1296072, Voltage gated Potassium channels |
Names & Taxonomyi
Protein namesi | Recommended name: Potassium voltage-gated channel subfamily H member 8Alternative name(s): ELK1 Short name: hElk1 Ether-a-go-go-like potassium channel 3 Short name: ELK channel 3 Short name: ELK3 Voltage-gated potassium channel subunit Kv12.1 |
Gene namesi | Name:KCNH8 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18864, KCNH8 |
MIMi | 608260, gene |
neXtProti | NX_Q96L42 |
VEuPathDBi | HostDB:ENSG00000183960.8 |
Subcellular locationi
Other locations
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: HPA
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 225 | CytoplasmicSequence analysisAdd BLAST | 225 | |
Transmembranei | 226 – 246 | Helical; Name=Segment S1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 247 – 255 | ExtracellularSequence analysis | 9 | |
Transmembranei | 256 – 276 | Helical; Name=Segment S2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 277 – 298 | CytoplasmicSequence analysisAdd BLAST | 22 | |
Transmembranei | 299 – 319 | Helical; Name=Segment S3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 320 – 327 | ExtracellularSequence analysis | 8 | |
Transmembranei | 328 – 348 | Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST | 21 | |
Topological domaini | 349 – 357 | CytoplasmicSequence analysis | 9 | |
Transmembranei | 358 – 378 | Helical; Name=Segment S5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 379 – 419 | ExtracellularSequence analysisAdd BLAST | 41 | |
Intramembranei | 420 – 440 | Pore-forming; Name=Segment H5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 441 – 448 | ExtracellularSequence analysis | 8 | |
Transmembranei | 449 – 469 | Helical; Name=Segment S6Sequence analysisAdd BLAST | 21 | |
Topological domaini | 470 – 1107 | CytoplasmicSequence analysisAdd BLAST | 638 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 131096 |
OpenTargetsi | ENSG00000183960 |
PharmGKBi | PA38724 |
Miscellaneous databases
Pharosi | Q96L42, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2362996 |
DrugBanki | DB00228, Enflurane DB01110, Miconazole DB01069, Promethazine |
DrugCentrali | Q96L42 |
GuidetoPHARMACOLOGYi | 575 |
Genetic variation databases
BioMutai | KCNH8 |
DMDMi | 229462927 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000054018 | 1 – 1107 | Potassium voltage-gated channel subfamily H member 8Add BLAST | 1107 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 320 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 409 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
PaxDbi | Q96L42 |
PeptideAtlasi | Q96L42 |
PRIDEi | Q96L42 |
ProteomicsDBi | 6442 77148 [Q96L42-1] |
PTM databases
GlyGeni | Q96L42, 2 sites |
iPTMneti | Q96L42 |
PhosphoSitePlusi | Q96L42 |
Expressioni
Tissue specificityi
Primarily expressed in the nervous system.1 Publication
Gene expression databases
Bgeei | ENSG00000183960, Expressed in corpus callosum and 123 other tissues |
ExpressionAtlasi | Q96L42, baseline and differential |
Genevisiblei | Q96L42, HS |
Organism-specific databases
HPAi | ENSG00000183960, Tissue enhanced (brain, pituitary gland) |
Interactioni
Subunit structurei
The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits.
Protein-protein interaction databases
BioGRIDi | 126271, 1 interactor |
ELMi | Q96L42 |
IntActi | Q96L42, 1 interactor |
STRINGi | 9606.ENSP00000328813 |
Miscellaneous databases
RNActi | Q96L42, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 18 – 90 | PASAdd BLAST | 73 | |
Domaini | 93 – 145 | PACPROSITE-ProRule annotationAdd BLAST | 53 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 434 – 439 | Selectivity filterBy similarity | 6 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 711 – 723 | Poly-GluAdd BLAST | 13 | |
Compositional biasi | 951 – 1064 | Ser-richAdd BLAST | 114 |
Domaini
The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
Sequence similaritiesi
Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.1/KCNH8 sub-subfamily. [View classification]Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0498, Eukaryota |
GeneTreei | ENSGT00940000156869 |
HOGENOMi | CLU_005746_6_0_1 |
InParanoidi | Q96L42 |
OMAi | PIRACSS |
OrthoDBi | 247304at2759 |
PhylomeDBi | Q96L42 |
TreeFami | TF313130 |
Family and domain databases
CDDi | cd00038, CAP_ED, 1 hit cd00130, PAS, 1 hit |
Gene3Di | 2.60.120.10, 1 hit |
InterProi | View protein in InterPro IPR018490, cNMP-bd-like IPR000595, cNMP-bd_dom IPR005821, Ion_trans_dom IPR003938, K_chnl_volt-dep_EAG/ELK/ERG IPR003950, K_chnl_volt-dep_ELK IPR001610, PAC IPR000014, PAS IPR000700, PAS-assoc_C IPR035965, PAS-like_dom_sf IPR014710, RmlC-like_jellyroll |
Pfami | View protein in Pfam PF00027, cNMP_binding, 1 hit PF00520, Ion_trans, 1 hit PF13426, PAS_9, 1 hit |
PRINTSi | PR01463, EAGCHANLFMLY PR01465, ELKCHANNEL |
SMARTi | View protein in SMART SM00100, cNMP, 1 hit SM00086, PAC, 1 hit |
SUPFAMi | SSF51206, SSF51206, 1 hit SSF55785, SSF55785, 1 hit |
TIGRFAMsi | TIGR00229, sensory_box, 1 hit |
PROSITEi | View protein in PROSITE PS50042, CNMP_BINDING_3, 1 hit PS50113, PAC, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q96L42-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPVMKGLLAP QNTFLDTIAT RFDGTHSNFI LANAQVAKGF PIVYCSDGFC
60 70 80 90 100
ELAGFARTEV MQKSCSCKFL FGVETNEQLM LQIEKSLEEK TEFKGEIMFY
110 120 130 140 150
KKNGSPFWCL LDIVPIKNEK GDVVLFLASF KDITDTKVKI TPEDKKEDKV
160 170 180 190 200
KGRSRAGTHF DSARRRSRAV LYHISGHLQR REKNKLKINN NVFVDKPAFP
210 220 230 240 250
EYKVSDAKKS KFILLHFSTF KAGWDWLILL ATFYVAVTVP YNVCFIGNDD
260 270 280 290 300
LSTTRSTTVS DIAVEILFII DIILNFRTTY VSKSGQVIFE ARSICIHYVT
310 320 330 340 350
TWFIIDLIAA LPFDLLYAFN VTVVSLVHLL KTVRLLRLLR LLQKLDRYSQ
360 370 380 390 400
HSTIVLTLLM SMFALLAHWM ACIWYVIGKM EREDNSLLKW EVGWLHELGK
410 420 430 440 450
RLESPYYGNN TLGGPSIRSA YIAALYFTLS SLTSVGFGNV SANTDAEKIF
460 470 480 490 500
SICTMLIGAL MHALVFGNVT AIIQRMYSRW SLYHTRTKDL KDFIRVHHLP
510 520 530 540 550
QQLKQRMLEY FQTTWSVNNG IDSNELLKDF PDELRSDITM HLNKEILQLS
560 570 580 590 600
LFECASRGCL RSLSLHIKTS FCAPGEYLLR QGDALQAIYF VCSGSMEVLK
610 620 630 640 650
DSMVLAILGK GDLIGANLSI KDQVIKTNAD VKALTYCDLQ CIILKGLFEV
660 670 680 690 700
LDLYPEYAHK FVEDIQHDLT YNLREGHESD VISRLSNKSM VSQSEPKGNG
710 720 730 740 750
NINKRLPSIV EDEEEEEEGE EEEAVSLSPI CTRGSSSRNK KVGSNKAYLG
760 770 780 790 800
LSLKQLASGT VPFHSPIRVS RSNSPKTKQE IDPPNHNKRK EKNLKLQLST
810 820 830 840 850
LNNAGPPDLS PRIVDGIEDG NSSEESQTFD FGSERIRSEP RISPPLGDPE
860 870 880 890 900
IGAAVLFIKA EETKQQINKL NSEVTTLTQE VSQLGKDMRN VIQLLENVLS
910 920 930 940 950
PQQPSRFCSL HSTSVCPSRE SLQTRTSWSA HQPCLHLQTG GAAYTQAQLC
960 970 980 990 1000
SSNITSDIWS VDPSSVGSSP QRTGAHEQNP ADSELYHSPS LDYSPSHYQV
1010 1020 1030 1040 1050
VQEGHLQFLR CISPHSDSTL TPLQSISATL SSSVCSSSET SLHLVLPSRS
1060 1070 1080 1090 1100
EEGSFSQGTV SSFSLENLPG SWNQEGMASA STKPLENLPL EVVTSTAEVK
DNKAINV
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketF8WCG6 | F8WCG6_HUMAN | Potassium voltage-gated channel sub... | KCNH8 | 195 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 525 | E → Q in BAD92290 (Ref. 4) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_055098 | 893 | Q → R1 PublicationCorresponds to variant dbSNP:rs33915638Ensembl. | 1 | |
Natural variantiVAR_055099 | 984 | E → Q. Corresponds to variant dbSNP:rs35160416EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_057036 | 1 – 359 | Missing in isoform 2. 1 PublicationAdd BLAST | 359 | |
Alternative sequenceiVSP_057037 | 459 | A → VSQFQVCPRPSWIICWFRNH FGFILLMTT in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_057038 | 515 – 516 | WS → CF in isoform 2. 1 Publication | 2 | |
Alternative sequenceiVSP_057039 | 517 – 1107 | Missing in isoform 2. 1 PublicationAdd BLAST | 591 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY053503 mRNA Translation: AAL15429.1 AK294759 mRNA Translation: BAH11873.1 AC015542 Genomic DNA No translation available. AC061958 Genomic DNA No translation available. AC099538 Genomic DNA No translation available. AC116098 Genomic DNA No translation available. AC135452 Genomic DNA No translation available. AC138315 Genomic DNA No translation available. AB209053 mRNA Translation: BAD92290.1 |
CCDSi | CCDS2632.1 [Q96L42-1] |
RefSeqi | NP_653234.2, NM_144633.2 [Q96L42-1] |
Genome annotation databases
Ensembli | ENST00000328405; ENSP00000328813; ENSG00000183960 [Q96L42-1] |
GeneIDi | 131096 |
KEGGi | hsa:131096 |
UCSCi | uc003cbk.2, human [Q96L42-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY053503 mRNA Translation: AAL15429.1 AK294759 mRNA Translation: BAH11873.1 AC015542 Genomic DNA No translation available. AC061958 Genomic DNA No translation available. AC099538 Genomic DNA No translation available. AC116098 Genomic DNA No translation available. AC135452 Genomic DNA No translation available. AC138315 Genomic DNA No translation available. AB209053 mRNA Translation: BAD92290.1 |
CCDSi | CCDS2632.1 [Q96L42-1] |
RefSeqi | NP_653234.2, NM_144633.2 [Q96L42-1] |
3D structure databases
SMRi | Q96L42 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126271, 1 interactor |
ELMi | Q96L42 |
IntActi | Q96L42, 1 interactor |
STRINGi | 9606.ENSP00000328813 |
Chemistry databases
ChEMBLi | CHEMBL2362996 |
DrugBanki | DB00228, Enflurane DB01110, Miconazole DB01069, Promethazine |
DrugCentrali | Q96L42 |
GuidetoPHARMACOLOGYi | 575 |
PTM databases
GlyGeni | Q96L42, 2 sites |
iPTMneti | Q96L42 |
PhosphoSitePlusi | Q96L42 |
Genetic variation databases
BioMutai | KCNH8 |
DMDMi | 229462927 |
Proteomic databases
PaxDbi | Q96L42 |
PeptideAtlasi | Q96L42 |
PRIDEi | Q96L42 |
ProteomicsDBi | 6442 77148 [Q96L42-1] |
Protocols and materials databases
Antibodypediai | 11263, 71 antibodies |
DNASUi | 131096 |
Genome annotation databases
Ensembli | ENST00000328405; ENSP00000328813; ENSG00000183960 [Q96L42-1] |
GeneIDi | 131096 |
KEGGi | hsa:131096 |
UCSCi | uc003cbk.2, human [Q96L42-1] |
Organism-specific databases
CTDi | 131096 |
DisGeNETi | 131096 |
GeneCardsi | KCNH8 |
HGNCi | HGNC:18864, KCNH8 |
HPAi | ENSG00000183960, Tissue enhanced (brain, pituitary gland) |
MIMi | 608260, gene |
neXtProti | NX_Q96L42 |
OpenTargetsi | ENSG00000183960 |
PharmGKBi | PA38724 |
VEuPathDBi | HostDB:ENSG00000183960.8 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0498, Eukaryota |
GeneTreei | ENSGT00940000156869 |
HOGENOMi | CLU_005746_6_0_1 |
InParanoidi | Q96L42 |
OMAi | PIRACSS |
OrthoDBi | 247304at2759 |
PhylomeDBi | Q96L42 |
TreeFami | TF313130 |
Enzyme and pathway databases
PathwayCommonsi | Q96L42 |
Reactomei | R-HSA-1296072, Voltage gated Potassium channels |
Miscellaneous databases
BioGRID-ORCSi | 131096, 3 hits in 874 CRISPR screens |
ChiTaRSi | KCNH8, human |
GeneWikii | KCNH8 |
GenomeRNAii | 131096 |
Pharosi | Q96L42, Tclin |
PROi | PR:Q96L42 |
RNActi | Q96L42, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000183960, Expressed in corpus callosum and 123 other tissues |
ExpressionAtlasi | Q96L42, baseline and differential |
Genevisiblei | Q96L42, HS |
Family and domain databases
CDDi | cd00038, CAP_ED, 1 hit cd00130, PAS, 1 hit |
Gene3Di | 2.60.120.10, 1 hit |
InterProi | View protein in InterPro IPR018490, cNMP-bd-like IPR000595, cNMP-bd_dom IPR005821, Ion_trans_dom IPR003938, K_chnl_volt-dep_EAG/ELK/ERG IPR003950, K_chnl_volt-dep_ELK IPR001610, PAC IPR000014, PAS IPR000700, PAS-assoc_C IPR035965, PAS-like_dom_sf IPR014710, RmlC-like_jellyroll |
Pfami | View protein in Pfam PF00027, cNMP_binding, 1 hit PF00520, Ion_trans, 1 hit PF13426, PAS_9, 1 hit |
PRINTSi | PR01463, EAGCHANLFMLY PR01465, ELKCHANNEL |
SMARTi | View protein in SMART SM00100, cNMP, 1 hit SM00086, PAC, 1 hit |
SUPFAMi | SSF51206, SSF51206, 1 hit SSF55785, SSF55785, 1 hit |
TIGRFAMsi | TIGR00229, sensory_box, 1 hit |
PROSITEi | View protein in PROSITE PS50042, CNMP_BINDING_3, 1 hit PS50113, PAC, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KCNH8_HUMAN | |
Accessioni | Q96L42Primary (citable) accession number: Q96L42 Secondary accession number(s): B7Z2I7, Q59GQ6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 28, 2002 |
Last sequence update: | May 5, 2009 | |
Last modified: | February 10, 2021 | |
This is version 171 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families