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Q9UQ05

- KCNH4_HUMAN

UniProt

Q9UQ05 - KCNH4_HUMAN

Protein

Potassium voltage-gated channel subfamily H member 4

Gene

KCNH4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit assembly.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi556 – 671116cNMPAdd
    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. potassium ion transport Source: ProtInc
    3. regulation of membrane potential Source: RefGenome
    4. 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 4
    Alternative name(s):
    Brain-specific eag-like channel 2
    Short name:
    BEC2
    Ether-a-go-go-like potassium channel 1
    Short name:
    ELK channel 1
    Short name:
    ELK1
    Voltage-gated potassium channel subunit Kv12.3
    Gene namesi
    Name:KCNH4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:6253. KCNH4.

    Subcellular locationi

    GO - Cellular componenti

    1. plasma membrane Source: Reactome
    2. voltage-gated potassium channel complex Source: ProtInc

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30039.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10171017Potassium voltage-gated channel subfamily H member 4PRO_0000054008Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi326 – 3261N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi414 – 4141N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi473 – 4731N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9UQ05.
    PRIDEiQ9UQ05.

    PTM databases

    PhosphoSiteiQ9UQ05.

    Expressioni

    Tissue specificityi

    Detected only in brain, in particular in the telencephalon. Detected in putamen and caudate nucleus, and at lower levels in cerebral cortex, occipital and hippocampus.

    Gene expression databases

    BgeeiQ9UQ05.
    CleanExiHS_KCNH4.
    GenevestigatoriQ9UQ05.

    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.ENSP00000264661.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UQ05.
    SMRiQ9UQ05. Positions 11-136, 426-480, 484-691.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 228228CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini250 – 25910ExtracellularSequence Analysis
    Topological domaini281 – 30222CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini324 – 3329ExtracellularSequence Analysis
    Topological domaini354 – 3618CytoplasmicSequence Analysis
    Topological domaini383 – 42745ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini449 – 48234ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini504 – 1017514CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei428 – 44821Pore-forming; Name=Segment H5Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei229 – 24921Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei260 – 28021Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei303 – 32321Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei333 – 35321Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei362 – 38221Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei483 – 50321Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini14 – 9077PASPROSITE-ProRule annotationAdd
    BLAST
    Domaini93 – 14553PACPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi439 – 4446Selectivity filterBy similarity

    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.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG2202.
    HOGENOMiHOG000230794.
    HOVERGENiHBG052232.
    InParanoidiQ9UQ05.
    KOiK04907.
    OMAiVPKAVWD.
    OrthoDBiEOG7QG43V.
    PhylomeDBiQ9UQ05.
    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]
    PfamiPF00520. Ion_trans. 1 hit.
    PF13426. PAS_9. 1 hit.
    [Graphical view]
    PRINTSiPR01463. EAGCHANLFMLY.
    PR01465. ELKCHANNEL.
    SMARTiSM00100. cNMP. 1 hit.
    SM00086. PAC. 1 hit.
    SM00091. PAS. 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.
    PS50112. PAS. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9UQ05-1 [UniParc]FASTAAdd to Basket

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    MPVMKGLLAP QNTFLDTIAT RFDGTHSNFL LANAQGTRGF PIVYCSDGFC     50
    ELTGYGRTEV MQKTCSCRFL YGPETSEPAL QRLHKALEGH QEHRAEICFY 100
    RKDGSAFWCL LDMMPIKNEM GEVVLFLFSF KDITQSGSPG LGPQGGRGDS 150
    NHENSLGRRG ATWKFRSARR RSRTVLHRLT GHFGRRGQGG MKANNNVFEP 200
    KPSVPEYKVA SVGGSRCLLL HYSVSKAIWD GLILLATFYV AVTVPYNVCF 250
    SGDDDTPITS RHTLVSDIAV EMLFILDIIL NFRTTYVSQS GQVISAPRSI 300
    GLHYLATWFF IDLIAALPFD LLYIFNITVT SLVHLLKTVR LLRLLRLLQK 350
    LERYSQCSAV VLTLLMSVFA LLAHWMACIW YVIGRREMEA NDPLLWDIGW 400
    LHELGKRLEV PYVNGSVGGP SRRSAYIAAL YFTLSSLTSV GFGNVCANTD 450
    AEKIFSICTM LIGALMHAVV FGNVTAIIQR MYSRRSLYHS RMKDLKDFIR 500
    VHRLPRPLKQ RMLEYFQTTW AVNSGIDANE LLRDFPDELR ADIAMHLNRE 550
    ILQLPLFGAA SRGCLRALSL HIKTSFCAPG EYLLRRGDAL QAHYYVCSGS 600
    LEVLRDNMVL AILGKGDLIG ADIPEPGQEP GLGADPNFVL KTSADVKALT 650
    YCGLQQLSSR GLAEVLRLYP EYGAAFRAGL PRDLTFNLRQ GSDTSGLSRF 700
    SRSPRLSQPR SESLGSSSDK TLPSITEAES GAEPGGGPRP RRPLLLPNLS 750
    PARPRGSLVS LLGEELPPFS ALVSSPSLSP SLSPALAGQG HSASPHGPPR 800
    CSAAWKPPQL LIPPLGTFGP PDLSPRIVDG IEDSGSTAEA PSFRFSRRPE 850
    LPRPRSQAPP TGTRPSPELA SEAEEVKEKV CRLNQEISRL NQEVSQLSRE 900
    LRHIMGLLQA RLGPPGHPAG SAWTPDPPCP QLRPPCLSPC ASRPPPSLQD 950
    TTLAEVHCPA SVGTMETGTA LLDLRPSILP PYPSEPDPLG PSPVPEASPP 1000
    TPSLLRHSFQ SRSDTFH 1017
    Length:1,017
    Mass (Da):111,693
    Last modified:May 1, 2000 - v1
    Checksum:i4B480DFC75816A38
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti797 – 7971G → R in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035771

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB022698 mRNA. Translation: BAA83592.1.
    CCDSiCCDS11420.1.
    RefSeqiNP_036417.1. NM_012285.2.
    UniGeneiHs.304081.

    Genome annotation databases

    EnsembliENST00000264661; ENSP00000264661; ENSG00000089558.
    ENST00000607371; ENSP00000475564; ENSG00000089558.
    GeneIDi23415.
    KEGGihsa:23415.
    UCSCiuc002hzb.2. human.

    Polymorphism databases

    DMDMi26006815.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB022698 mRNA. Translation: BAA83592.1 .
    CCDSi CCDS11420.1.
    RefSeqi NP_036417.1. NM_012285.2.
    UniGenei Hs.304081.

    3D structure databases

    ProteinModelPortali Q9UQ05.
    SMRi Q9UQ05. Positions 11-136, 426-480, 484-691.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000264661.

    Chemistry

    ChEMBLi CHEMBL2362996.

    PTM databases

    PhosphoSitei Q9UQ05.

    Polymorphism databases

    DMDMi 26006815.

    Proteomic databases

    PaxDbi Q9UQ05.
    PRIDEi Q9UQ05.

    Protocols and materials databases

    DNASUi 23415.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264661 ; ENSP00000264661 ; ENSG00000089558 .
    ENST00000607371 ; ENSP00000475564 ; ENSG00000089558 .
    GeneIDi 23415.
    KEGGi hsa:23415.
    UCSCi uc002hzb.2. human.

    Organism-specific databases

    CTDi 23415.
    GeneCardsi GC17M040308.
    HGNCi HGNC:6253. KCNH4.
    MIMi 604528. gene.
    neXtProti NX_Q9UQ05.
    PharmGKBi PA30039.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2202.
    HOGENOMi HOG000230794.
    HOVERGENi HBG052232.
    InParanoidi Q9UQ05.
    KOi K04907.
    OMAi VPKAVWD.
    OrthoDBi EOG7QG43V.
    PhylomeDBi Q9UQ05.
    TreeFami TF313130.

    Enzyme and pathway databases

    Reactomei REACT_75770. Voltage gated Potassium channels.

    Miscellaneous databases

    GeneWikii KCNH4.
    GenomeRNAii 23415.
    NextBioi 45619.
    PROi Q9UQ05.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UQ05.
    CleanExi HS_KCNH4.
    Genevestigatori Q9UQ05.

    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 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.
    SM00091. PAS. 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.
    PS50112. PAS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "New ether-a-go-go K+ channel family members localized in human telencephalon."
      Miyake A., Mochizuki S., Yokoi H., Kohda M., Furuichi K.
      J. Biol. Chem. 274:25018-25025(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    2. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-797.

    Entry informationi

    Entry nameiKCNH4_HUMAN
    AccessioniPrimary (citable) accession number: Q9UQ05
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2002
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 131 of the entry and version 1 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 17
      Human chromosome 17: 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