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Protein

Potassium voltage-gated channel subfamily H member 8

Gene

KCNH8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi551 – 668cNMPAdd BLAST118

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

ReactomeiR-HSA-1296072. Voltage gated Potassium channels.

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily H member 8
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:18864. KCNH8.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 225CytoplasmicSequence analysisAdd BLAST225
Transmembranei226 – 246Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini247 – 255ExtracellularSequence analysis9
Transmembranei256 – 276Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini277 – 298CytoplasmicSequence analysisAdd BLAST22
Transmembranei299 – 319Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini320 – 327ExtracellularSequence analysis8
Transmembranei328 – 348Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST21
Topological domaini349 – 357CytoplasmicSequence analysis9
Transmembranei358 – 378Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini379 – 419ExtracellularSequence analysisAdd BLAST41
Intramembranei420 – 440Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Topological domaini441 – 448ExtracellularSequence analysis8
Transmembranei449 – 469Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini470 – 1107CytoplasmicSequence analysisAdd BLAST638

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi131096.
OpenTargetsiENSG00000183960.
PharmGKBiPA38724.

Chemistry databases

ChEMBLiCHEMBL2362996.
GuidetoPHARMACOLOGYi575.

Polymorphism and mutation databases

BioMutaiKCNH8.
DMDMi229462927.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000540181 – 1107Potassium voltage-gated channel subfamily H member 8Add BLAST1107

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi320N-linked (GlcNAc...)Sequence analysis1
Glycosylationi409N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ96L42.
PaxDbiQ96L42.
PeptideAtlasiQ96L42.
PRIDEiQ96L42.

PTM databases

iPTMnetiQ96L42.
PhosphoSitePlusiQ96L42.

Expressioni

Tissue specificityi

Primarily expressed in the nervous system.1 Publication

Gene expression databases

BgeeiENSG00000183960.
CleanExiHS_KCNH8.
ExpressionAtlasiQ96L42. baseline and differential.
GenevisibleiQ96L42. HS.

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

STRINGi9606.ENSP00000328813.

Structurei

3D structure databases

ProteinModelPortaliQ96L42.
SMRiQ96L42.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini18 – 90PASAdd BLAST73
Domaini93 – 145PACPROSITE-ProRule annotationAdd BLAST53

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi434 – 439Selectivity filterBy similarity6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi711 – 723Poly-GluAdd BLAST13
Compositional biasi951 – 1064Ser-richAdd BLAST114

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

Contains 1 cyclic nucleotide-binding domain.PROSITE-ProRule annotation
Contains 1 PAC (PAS-associated C-terminal) domain.PROSITE-ProRule annotation
Contains 1 PAS (PER-ARNT-SIM) domain.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0498. Eukaryota.
ENOG410XPSE. LUCA.
GeneTreeiENSGT00760000118772.
HOGENOMiHOG000230794.
HOVERGENiHBG052232.
InParanoidiQ96L42.
KOiK04911.
OMAiNGSSFWC.
OrthoDBiEOG091G0OXR.
PhylomeDBiQ96L42.
TreeFamiTF313130.

Family and domain databases

Gene3Di2.60.120.10. 1 hit.
InterProiIPR018490. 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.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamiPF00027. cNMP_binding. 1 hit.
PF00520. Ion_trans. 1 hit.
PF13426. PAS_9. 1 hit.
[Graphical view]
PRINTSiPR01463. EAGCHANLFMLY.
PR01465. ELKCHANNEL.
SMARTiSM00100. cNMP. 1 hit.
SM00086. PAC. 1 hit.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 1 hit.
SSF55785. SSF55785. 1 hit.
TIGRFAMsiTIGR00229. sensory_box. 1 hit.
PROSITEiPS50042. CNMP_BINDING_3. 1 hit.
PS50113. PAC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96L42-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:1,107
Mass (Da):123,804
Last modified:May 5, 2009 - v2
Checksum:iF0E5DEC9A7877869
GO
Isoform 2 (identifier: Q96L42-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-359: Missing.
     459-459: A → VSQFQVCPRPSWIICWFRNHFGFILLMTT
     515-516: WS → CF
     517-1107: Missing.

Note: No experimental confirmation available.
Show »
Length:185
Mass (Da):21,564
Checksum:i0DBF1AB36968022E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti525E → Q in BAD92290 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055098893Q → R.1 PublicationCorresponds to variant rs33915638dbSNPEnsembl.1
Natural variantiVAR_055099984E → Q.Corresponds to variant rs35160416dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0570361 – 359Missing in isoform 2. 1 PublicationAdd BLAST359
Alternative sequenceiVSP_057037459A → VSQFQVCPRPSWIICWFRNH FGFILLMTT in isoform 2. 1 Publication1
Alternative sequenceiVSP_057038515 – 516WS → CF in isoform 2. 1 Publication2
Alternative sequenceiVSP_057039517 – 1107Missing in isoform 2. 1 PublicationAdd BLAST591

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.
CCDSiCCDS2632.1. [Q96L42-1]
RefSeqiNP_653234.2. NM_144633.2. [Q96L42-1]
UniGeneiHs.475656.

Genome annotation databases

EnsembliENST00000328405; ENSP00000328813; ENSG00000183960. [Q96L42-1]
GeneIDi131096.
KEGGihsa:131096.
UCSCiuc003cbk.2. human. [Q96L42-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS2632.1. [Q96L42-1]
RefSeqiNP_653234.2. NM_144633.2. [Q96L42-1]
UniGeneiHs.475656.

3D structure databases

ProteinModelPortaliQ96L42.
SMRiQ96L42.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000328813.

Chemistry databases

ChEMBLiCHEMBL2362996.
GuidetoPHARMACOLOGYi575.

PTM databases

iPTMnetiQ96L42.
PhosphoSitePlusiQ96L42.

Polymorphism and mutation databases

BioMutaiKCNH8.
DMDMi229462927.

Proteomic databases

EPDiQ96L42.
PaxDbiQ96L42.
PeptideAtlasiQ96L42.
PRIDEiQ96L42.

Protocols and materials databases

DNASUi131096.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328405; ENSP00000328813; ENSG00000183960. [Q96L42-1]
GeneIDi131096.
KEGGihsa:131096.
UCSCiuc003cbk.2. human. [Q96L42-1]

Organism-specific databases

CTDi131096.
DisGeNETi131096.
GeneCardsiKCNH8.
H-InvDBHIX0030767.
HGNCiHGNC:18864. KCNH8.
MIMi608260. gene.
neXtProtiNX_Q96L42.
OpenTargetsiENSG00000183960.
PharmGKBiPA38724.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0498. Eukaryota.
ENOG410XPSE. LUCA.
GeneTreeiENSGT00760000118772.
HOGENOMiHOG000230794.
HOVERGENiHBG052232.
InParanoidiQ96L42.
KOiK04911.
OMAiNGSSFWC.
OrthoDBiEOG091G0OXR.
PhylomeDBiQ96L42.
TreeFamiTF313130.

Enzyme and pathway databases

ReactomeiR-HSA-1296072. Voltage gated Potassium channels.

Miscellaneous databases

ChiTaRSiKCNH8. human.
GeneWikiiKCNH8.
GenomeRNAii131096.
PROiQ96L42.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183960.
CleanExiHS_KCNH8.
ExpressionAtlasiQ96L42. baseline and differential.
GenevisibleiQ96L42. HS.

Family and domain databases

Gene3Di2.60.120.10. 1 hit.
InterProiIPR018490. 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.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamiPF00027. cNMP_binding. 1 hit.
PF00520. Ion_trans. 1 hit.
PF13426. PAS_9. 1 hit.
[Graphical view]
PRINTSiPR01463. EAGCHANLFMLY.
PR01465. ELKCHANNEL.
SMARTiSM00100. cNMP. 1 hit.
SM00086. PAC. 1 hit.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 1 hit.
SSF55785. SSF55785. 1 hit.
TIGRFAMsiTIGR00229. sensory_box. 1 hit.
PROSITEiPS50042. CNMP_BINDING_3. 1 hit.
PS50113. PAC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKCNH8_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 144 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 3
    Human chromosome 3: 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.