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UniProtKB - Q96L42 (KCNH8_HUMAN)

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Protein

Potassium voltage-gated channel subfamily H member 8

Gene

KCNH8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000183960.8
HGNCiHGNC:18864 KCNH8
MIMi608260 gene
neXtProtiNX_Q96L42

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 – 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

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...) asparagineSequence analysis1
Glycosylationi409N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96L42
PeptideAtlasiQ96L42
PRIDEiQ96L42
ProteomicsDBi77148

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

Organism-specific databases

HPAiHPA016586

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

ELMiQ96L42
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

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 helix

Phylogenomic databases

eggNOGiKOG0498 Eukaryota
ENOG410XPSE LUCA
GeneTreeiENSGT00900000140833
HOGENOMiHOG000230794
HOVERGENiHBG052232
InParanoidiQ96L42
KOiK04911
OMAiNGSSFWC
OrthoDBiEOG091G0OXR
PhylomeDBiQ96L42
TreeFamiTF313130

Family and domain databases

CDDicd00038 CAP_ED, 1 hit
cd00130 PAS, 1 hit
Gene3Di2.60.120.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00027 cNMP_binding, 1 hit
PF00520 Ion_trans, 1 hit
PF13426 PAS_9, 1 hit
PRINTSiPR01463 EAGCHANLFMLY
PR01465 ELKCHANNEL
SMARTiView protein in SMART
SM00100 cNMP, 1 hit
SM00086 PAC, 1 hit
SUPFAMiSSF51206 SSF51206, 1 hit
SSF55785 SSF55785, 1 hit
TIGRFAMsiTIGR00229 sensory_box, 1 hit
PROSITEiView protein in PROSITE
PS50042 CNMP_BINDING_3, 1 hit
PS50113 PAC, 1 hit

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 → R1 PublicationCorresponds to variant dbSNP:rs33915638Ensembl.1
Natural variantiVAR_055099984E → Q. Corresponds to variant dbSNP:rs35160416Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiKCNH8_HUMAN
AccessioniPrimary (citable) accession number: Q96L42
Secondary accession number(s): B7Z2I7, Q59GQ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: May 5, 2009
Last modified: June 20, 2018
This is version 153 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. 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

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