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Q96L42

- KCNH8_HUMAN

UniProt

Q96L42 - KCNH8_HUMAN

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
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 2 (05 May 2009)
      Previous versions | rss
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    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 – 668118cNMPAdd
    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

    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

    GO - Cellular componenti

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

    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 8PRO_0000054018Add
    BLAST

    Amino acid modifications

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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 225225CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini247 – 2559ExtracellularSequence Analysis
    Topological domaini277 – 29822CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini320 – 3278ExtracellularSequence Analysis
    Topological domaini349 – 3579CytoplasmicSequence Analysis
    Topological domaini379 – 41941ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini441 – 4488ExtracellularSequence Analysis
    Topological domaini470 – 1107638CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei420 – 44021Pore-forming; Name=Segment H5Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei226 – 24621Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei256 – 27621Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei299 – 31921Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei328 – 34821Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei358 – 37821Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei449 – 46921Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini18 – 9073PASAdd
    BLAST
    Domaini93 – 14553PACPROSITE-ProRule annotationAdd
    BLAST

    Motif

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

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi711 – 72313Poly-GluAdd
    BLAST
    Compositional biasi951 – 1064114Ser-richAdd
    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

    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

    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

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    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

    Experimental Info

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

    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 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

    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: October 1, 2014
    This is version 125 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