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Q96L42

- KCNH8_HUMAN

UniProt

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: 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)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi551 – 668118cNMP
Add
BLAST

GO - Molecular functioni

  1. phosphorelay sensor kinase activity Source: InterPro
  2. voltage-gated potassium channel activity Source: RefGenome

GO - Biological processi

  1. potassium ion transmembrane transport Source: RefGenome
  2. regulation of membrane potential Source: RefGenome
  3. synaptic transmission Source: Reactome
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

ReactomeiREACT_75770. 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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:18864. KCNH8.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 225225Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei226 – 24621Helical; Name=Segment S1; Reviewed prediction
Add
BLAST
Topological domaini247 – 2559Extracellular Reviewed prediction
Transmembranei256 – 27621Helical; Name=Segment S2; Reviewed prediction
Add
BLAST
Topological domaini277 – 29822Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei299 – 31921Helical; Name=Segment S3; Reviewed prediction
Add
BLAST
Topological domaini320 – 3278Extracellular Reviewed prediction
Transmembranei328 – 34821Helical; Voltage-sensor; Name=Segment S4; Reviewed prediction
Add
BLAST
Topological domaini349 – 3579Cytoplasmic Reviewed prediction
Transmembranei358 – 37821Helical; Name=Segment S5; Reviewed prediction
Add
BLAST
Topological domaini379 – 41941Extracellular Reviewed prediction
Add
BLAST
Intramembranei420 – 44021Pore-forming; Name=Segment H5; Reviewed prediction
Add
BLAST
Topological domaini441 – 4488Extracellular Reviewed prediction
Transmembranei449 – 46921Helical; Name=Segment S6; Reviewed prediction
Add
BLAST
Topological domaini470 – 1107638Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: RefGenome
  2. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38724.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11071107Potassium voltage-gated channel subfamily H member 8
PRO_0000054018Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi320 – 3201N-linked (GlcNAc...) Reviewed prediction
Glycosylationi409 – 4091N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96L42.
PRIDEiQ96L42.

PTM databases

PhosphoSiteiQ96L42.

Expressioni

Tissue specificityi

Primarily expressed in the nervous system.1 Publication

Gene expression databases

ArrayExpressiQ96L42.
BgeeiQ96L42.
CleanExiHS_KCNH8.
GenevestigatoriQ96L42.

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

STRINGi9606.ENSP00000328813.

Structurei

3D structure databases

ProteinModelPortaliQ96L42.
SMRiQ96L42. Positions 11-165, 420-475, 481-675.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini18 – 9073PAS
Add
BLAST
Domaini93 – 14553PAC
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi434 – 4396Selectivity filter By similarity

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi711 – 72313Poly-Glu
Add
BLAST
Compositional biasi951 – 1064114Ser-rich
Add
BLAST

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG2202.
HOGENOMiHOG000230794.
HOVERGENiHBG052232.
InParanoidiQ96L42.
KOiK04911.
OMAiNGSSFWC.
OrthoDBiEOG7QG43V.
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]

Sequencei

Sequence statusi: Complete.

Q96L42-1 [UniParc]FASTAAdd to Basket

« Hide

MPVMKGLLAP QNTFLDTIAT RFDGTHSNFI LANAQVAKGF PIVYCSDGFC     50
ELAGFARTEV MQKSCSCKFL FGVETNEQLM LQIEKSLEEK TEFKGEIMFY 100
KKNGSPFWCL LDIVPIKNEK GDVVLFLASF KDITDTKVKI TPEDKKEDKV 150
KGRSRAGTHF DSARRRSRAV LYHISGHLQR REKNKLKINN NVFVDKPAFP 200
EYKVSDAKKS KFILLHFSTF KAGWDWLILL ATFYVAVTVP YNVCFIGNDD 250
LSTTRSTTVS DIAVEILFII DIILNFRTTY VSKSGQVIFE ARSICIHYVT 300
TWFIIDLIAA LPFDLLYAFN VTVVSLVHLL KTVRLLRLLR LLQKLDRYSQ 350
HSTIVLTLLM SMFALLAHWM ACIWYVIGKM EREDNSLLKW EVGWLHELGK 400
RLESPYYGNN TLGGPSIRSA YIAALYFTLS SLTSVGFGNV SANTDAEKIF 450
SICTMLIGAL MHALVFGNVT AIIQRMYSRW SLYHTRTKDL KDFIRVHHLP 500
QQLKQRMLEY FQTTWSVNNG IDSNELLKDF PDELRSDITM HLNKEILQLS 550
LFECASRGCL RSLSLHIKTS FCAPGEYLLR QGDALQAIYF VCSGSMEVLK 600
DSMVLAILGK GDLIGANLSI KDQVIKTNAD VKALTYCDLQ CIILKGLFEV 650
LDLYPEYAHK FVEDIQHDLT YNLREGHESD VISRLSNKSM VSQSEPKGNG 700
NINKRLPSIV EDEEEEEEGE EEEAVSLSPI CTRGSSSRNK KVGSNKAYLG 750
LSLKQLASGT VPFHSPIRVS RSNSPKTKQE IDPPNHNKRK EKNLKLQLST 800
LNNAGPPDLS PRIVDGIEDG NSSEESQTFD FGSERIRSEP RISPPLGDPE 850
IGAAVLFIKA EETKQQINKL NSEVTTLTQE VSQLGKDMRN VIQLLENVLS 900
PQQPSRFCSL HSTSVCPSRE SLQTRTSWSA HQPCLHLQTG GAAYTQAQLC 950
SSNITSDIWS VDPSSVGSSP QRTGAHEQNP ADSELYHSPS LDYSPSHYQV 1000
VQEGHLQFLR CISPHSDSTL TPLQSISATL SSSVCSSSET SLHLVLPSRS 1050
EEGSFSQGTV SSFSLENLPG SWNQEGMASA STKPLENLPL EVVTSTAEVK 1100
DNKAINV 1107
Length:1,107
Mass (Da):123,804
Last modified:May 5, 2009 - v2
Checksum:iF0E5DEC9A7877869
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti893 – 8931Q → R.1 Publication
Corresponds to variant rs33915638 [ dbSNP | Ensembl ].
VAR_055098
Natural varianti984 – 9841E → Q.
Corresponds to variant rs35160416 [ dbSNP | Ensembl ].
VAR_055099

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti525 – 5251E → Q in BAD92290. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY053503 mRNA. Translation: AAL15429.1.
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.
RefSeqiNP_653234.2. NM_144633.2.
UniGeneiHs.475656.

Genome annotation databases

EnsembliENST00000328405; ENSP00000328813; ENSG00000183960.
GeneIDi131096.
KEGGihsa:131096.
UCSCiuc003cbk.1. human.

Polymorphism databases

DMDMi229462927.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY053503 mRNA. Translation: AAL15429.1 .
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.
RefSeqi NP_653234.2. NM_144633.2.
UniGenei Hs.475656.

3D structure databases

ProteinModelPortali Q96L42.
SMRi Q96L42. Positions 11-165, 420-475, 481-675.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000328813.

Chemistry

ChEMBLi CHEMBL2362996.
GuidetoPHARMACOLOGYi 575.

PTM databases

PhosphoSitei Q96L42.

Polymorphism databases

DMDMi 229462927.

Proteomic databases

PaxDbi Q96L42.
PRIDEi Q96L42.

Protocols and materials databases

DNASUi 131096.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000328405 ; ENSP00000328813 ; ENSG00000183960 .
GeneIDi 131096.
KEGGi hsa:131096.
UCSCi uc003cbk.1. human.

Organism-specific databases

CTDi 131096.
GeneCardsi GC03P019165.
H-InvDB HIX0030767.
HGNCi HGNC:18864. KCNH8.
HPAi HPA016586.
MIMi 608260. gene.
neXtProti NX_Q96L42.
PharmGKBi PA38724.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2202.
HOGENOMi HOG000230794.
HOVERGENi HBG052232.
InParanoidi Q96L42.
KOi K04911.
OMAi NGSSFWC.
OrthoDBi EOG7QG43V.
PhylomeDBi Q96L42.
TreeFami TF313130.

Enzyme and pathway databases

Reactomei REACT_75770. Voltage gated Potassium channels.

Miscellaneous databases

GeneWikii KCNH8.
GenomeRNAii 131096.
NextBioi 82870.
PROi Q96L42.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96L42.
Bgeei Q96L42.
CleanExi HS_KCNH8.
Genevestigatori Q96L42.

Family and domain databases

Gene3Di 2.60.120.10. 1 hit.
InterProi 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.
IPR014710. RmlC-like_jellyroll.
[Graphical view ]
Pfami PF00027. cNMP_binding. 1 hit.
PF00520. Ion_trans. 1 hit.
PF13426. PAS_9. 1 hit.
[Graphical view ]
PRINTSi PR01463. EAGCHANLFMLY.
PR01465. ELKCHANNEL.
SMARTi SM00100. cNMP. 1 hit.
SM00086. PAC. 1 hit.
[Graphical view ]
SUPFAMi SSF51206. SSF51206. 1 hit.
SSF55785. SSF55785. 1 hit.
TIGRFAMsi TIGR00229. sensory_box. 1 hit.
PROSITEi PS50042. CNMP_BINDING_3. 1 hit.
PS50113. PAC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A novel membrane potential-sensitive fluorescent dye improves cell-based assays for ion channels."
    Baxter D.F., Kirk M., Garcia A.F., Raimondi A., Holmqvist M.H., Flint K.K., Bojanic D., DiStefano P.S., Curtis R., Xie Y.
    J. Biomol. Screen. 7:79-85(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-893.
    Tissue: Brain.
  2. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 525-1107.
    Tissue: Brain.
  4. "Distribution and functional properties of human KCNH8 (Elk1) potassium channels."
    Zou A., Lin Z., Humble M., Creech C.D., Wagoner P.K., Krafte D., Jegla T.J., Wickenden A.D.
    Am. J. Physiol. 285:C1356-C1366(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiKCNH8_HUMAN
AccessioniPrimary (citable) accession number: Q96L42
Secondary accession number(s): Q59GQ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: May 5, 2009
Last modified: September 3, 2014
This is version 124 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

External Data

Dasty 3

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