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Q9NS40

- KCNH7_HUMAN

UniProt

Q9NS40 - KCNH7_HUMAN

Protein

Potassium voltage-gated channel subfamily H member 7

Gene

KCNH7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 129 (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. Channel properties may be modulated by cAMP and subunit assembly.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi745 – 862118cNMPAdd
    BLAST

    GO - Molecular functioni

    1. inward rectifier potassium channel activity Source: Ensembl
    2. signal transducer activity Source: InterPro
    3. voltage-gated potassium channel activity Source: RefGenome

    GO - Biological processi

    1. circadian rhythm Source: Ensembl
    2. potassium ion transmembrane transport Source: RefGenome
    3. protein heterooligomerization Source: Ensembl
    4. regulation of membrane potential Source: RefGenome
    5. 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 7
    Alternative name(s):
    Ether-a-go-go-related gene potassium channel 3
    Short name:
    ERG-3
    Short name:
    Eag-related protein 3
    Short name:
    Ether-a-go-go-related protein 3
    Short name:
    hERG-3
    Voltage-gated potassium channel subunit Kv11.3
    Gene namesi
    Name:KCNH7
    Synonyms:ERG3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:18863. KCNH7.

    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

    PharmGKBiPA38723.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11961196Potassium voltage-gated channel subfamily H member 7PRO_0000054015Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi600 – 6001N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9NS40.
    PRIDEiQ9NS40.

    PTM databases

    PhosphoSiteiQ9NS40.

    Expressioni

    Tissue specificityi

    Expressed in prolactin-secreting adenomas.1 Publication

    Gene expression databases

    BgeeiQ9NS40.
    CleanExiHS_KCNH7.
    GenevestigatoriQ9NS40.

    Organism-specific databases

    HPAiHPA018039.

    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. Heteromultimer with KCNH2/ERG1 and KCNH6/ERG2 By similarity.By similarity

    Protein-protein interaction databases

    IntActiQ9NS40. 1 interaction.
    STRINGi9606.ENSP00000331727.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NS40.
    SMRiQ9NS40. Positions 1-134, 572-668, 673-868.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 412412CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini434 – 44916ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini471 – 49424CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini516 – 5216ExtracellularSequence Analysis
    Topological domaini543 – 5497CytoplasmicSequence Analysis
    Topological domaini571 – 61444ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini636 – 6416ExtracellularSequence Analysis
    Topological domaini663 – 1196534CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei615 – 63521Pore-forming; Name=Segment H5Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei413 – 43321Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei450 – 47021Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei495 – 51521Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei522 – 54221Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei550 – 57021Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei642 – 66221Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini41 – 7030PASAdd
    BLAST
    Domaini92 – 14453PACAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi627 – 6326Selectivity 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 PAS (PER-ARNT-SIM) domain.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG2202.
    HOGENOMiHOG000230793.
    HOVERGENiHBG052232.
    InParanoidiQ9NS40.
    KOiK04910.
    OMAiESQMTTD.
    OrthoDBiEOG75B879.
    PhylomeDBiQ9NS40.
    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.
    IPR003967. K_chnl_volt-dep_ERG.
    IPR001610. PAC.
    IPR000014. PAS.
    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.
    PR01470. ERGCHANNEL.
    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.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NS40-1) [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

    MPVRRGHVAP QNTFLGTIIR KFEGQNKKFI IANARVQNCA IIYCNDGFCE     50
    MTGFSRPDVM QKPCTCDFLH GPETKRHDIA QIAQALLGSE ERKVEVTYYH 100
    KNGSTFICNT HIIPVKNQEG VAMMFIINFE YVTDNENAAT PERVNPILPI 150
    KTVNRKFFGF KFPGLRVLTY RKQSLPQEDP DVVVIDSSKH SDDSVAMKHF 200
    KSPTKESCSP SEADDTKALI QPSKCSPLVN ISGPLDHSSP KRQWDRLYPD 250
    MLQSSSQLSH SRSRESLCSI RRASSVHDIE GFGVHPKNIF RDRHASEDNG 300
    RNVKGPFNHI KSSLLGSTSD SNLNKYSTIN KIPQLTLNFS EVKTEKKNSS 350
    PPSSDKTIIA PKVKDRTHNV TEKVTQVLSL GADVLPEYKL QTPRINKFTI 400
    LHYSPFKAVW DWLILLLVIY TAIFTPYSAA FLLNDREEQK RRECGYSCSP 450
    LNVVDLIVDI MFIIDILINF RTTYVNQNEE VVSDPAKIAI HYFKGWFLID 500
    MVAAIPFDLL IFGSGSDETT TLIGLLKTAR LLRLVRVARK LDRYSEYGAA 550
    VLMLLMCIFA LIAHWLACIW YAIGNVERPY LTDKIGWLDS LGQQIGKRYN 600
    DSDSSSGPSI KDKYVTALYF TFSSLTSVGF GNVSPNTNSE KIFSICVMLI 650
    GSLMYASIFG NVSAIIQRLY SGTARYHMQM LRVKEFIRFH QIPNPLRQRL 700
    EEYFQHAWTY TNGIDMNMVL KGFPECLQAD ICLHLNQTLL QNCKAFRGAS 750
    KGCLRALAMK FKTTHAPPGD TLVHCGDVLT ALYFLSRGSI EILKDDIVVA 800
    ILGKNDIFGE MVHLYAKPGK SNADVRALTY CDLHKIQRED LLEVLDMYPE 850
    FSDHFLTNLE LTFNLRHESA KADLLRSQSM NDSEGDNCKL RRRKLSFESE 900
    GEKENSTNDP EDSADTIRHY QSSKRHFEEK KSRSSSFISS IDDEQKPLFS 950
    GIVDSSPGIG KASGLDFEET VPTSGRMHID KRSHSCKDIT DMRSWERENA 1000
    HPQPEDSSPS ALQRAAWGIS ETESDLTYGE VEQRLDLLQE QLNRLESQMT 1050
    TDIQTILQLL QKQTTVVPPA YSMVTAGSEY QRPIIQLMRT SQPEASIKTD 1100
    RSFSPSSQCP EFLDLEKSKL KSKESLSSGV HLNTASEDNL TSLLKQDSDL 1150
    SLELHLRQRK TYVHPIRHPS LPDSSLSTVG IVGLHRHVSD PGLPGK 1196
    Length:1,196
    Mass (Da):135,000
    Last modified:May 5, 2009 - v2
    Checksum:iA22D046D02C2A759
    GO
    Isoform 2 (identifier: Q9NS40-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         298-304: Missing.
         720-739: LKGFPECLQADICLHLNQTL → CMSVFQNESAAGIIVIAKME
         740-1196: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:732
    Mass (Da):82,904
    Checksum:i42E86D3AA12E495D
    GO

    Sequence cautioni

    The sequence AAD01946.1 differs from that shown. Reason: Frameshift at positions 792 and 795.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti555 – 5551L → S in AAD01946. 1 PublicationCurated
    Sequence conflicti562 – 5621I → N in AAD01946. 1 PublicationCurated
    Sequence conflicti767 – 7682PP → LQ in AAD01946. 1 PublicationCurated
    Sequence conflicti797 – 7971I → M in AAD01946. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti958 – 9581G → A.
    Corresponds to variant rs6757850 [ dbSNP | Ensembl ].
    VAR_057767

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei298 – 3047Missing in isoform 2. 1 PublicationVSP_037116
    Alternative sequencei720 – 73920LKGFP…LNQTL → CMSVFQNESAAGIIVIAKME in isoform 2. 1 PublicationVSP_037117Add
    BLAST
    Alternative sequencei740 – 1196457Missing in isoform 2. 1 PublicationVSP_037118Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF032897 mRNA. Translation: AAD01946.1. Frameshift.
    AC010876 Genomic DNA. Translation: AAX93139.1.
    AC007740 Genomic DNA. Translation: AAX93153.1.
    AC104822 Genomic DNA. Translation: AAY24106.1.
    BC035815 mRNA. Translation: AAH35815.1.
    CCDSiCCDS2219.1. [Q9NS40-1]
    CCDS2220.1. [Q9NS40-2]
    RefSeqiNP_150375.2. NM_033272.3. [Q9NS40-1]
    NP_775185.1. NM_173162.2. [Q9NS40-2]
    UniGeneiHs.657413.

    Genome annotation databases

    EnsembliENST00000328032; ENSP00000333781; ENSG00000184611. [Q9NS40-2]
    ENST00000332142; ENSP00000331727; ENSG00000184611. [Q9NS40-1]
    GeneIDi90134.
    KEGGihsa:90134.
    UCSCiuc002uch.2. human. [Q9NS40-1]
    uc002uci.3. human. [Q9NS40-2]

    Polymorphism databases

    DMDMi229462892.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF032897 mRNA. Translation: AAD01946.1 . Frameshift.
    AC010876 Genomic DNA. Translation: AAX93139.1 .
    AC007740 Genomic DNA. Translation: AAX93153.1 .
    AC104822 Genomic DNA. Translation: AAY24106.1 .
    BC035815 mRNA. Translation: AAH35815.1 .
    CCDSi CCDS2219.1. [Q9NS40-1 ]
    CCDS2220.1. [Q9NS40-2 ]
    RefSeqi NP_150375.2. NM_033272.3. [Q9NS40-1 ]
    NP_775185.1. NM_173162.2. [Q9NS40-2 ]
    UniGenei Hs.657413.

    3D structure databases

    ProteinModelPortali Q9NS40.
    SMRi Q9NS40. Positions 1-134, 572-668, 673-868.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9NS40. 1 interaction.
    STRINGi 9606.ENSP00000331727.

    Chemistry

    ChEMBLi CHEMBL2362996.
    DrugBanki DB00308. Ibutilide.

    PTM databases

    PhosphoSitei Q9NS40.

    Polymorphism databases

    DMDMi 229462892.

    Proteomic databases

    PaxDbi Q9NS40.
    PRIDEi Q9NS40.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000328032 ; ENSP00000333781 ; ENSG00000184611 . [Q9NS40-2 ]
    ENST00000332142 ; ENSP00000331727 ; ENSG00000184611 . [Q9NS40-1 ]
    GeneIDi 90134.
    KEGGi hsa:90134.
    UCSCi uc002uch.2. human. [Q9NS40-1 ]
    uc002uci.3. human. [Q9NS40-2 ]

    Organism-specific databases

    CTDi 90134.
    GeneCardsi GC02M163191.
    HGNCi HGNC:18863. KCNH7.
    HPAi HPA018039.
    MIMi 608169. gene.
    neXtProti NX_Q9NS40.
    PharmGKBi PA38723.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2202.
    HOGENOMi HOG000230793.
    HOVERGENi HBG052232.
    InParanoidi Q9NS40.
    KOi K04910.
    OMAi ESQMTTD.
    OrthoDBi EOG75B879.
    PhylomeDBi Q9NS40.
    TreeFami TF313130.

    Enzyme and pathway databases

    Reactomei REACT_75770. Voltage gated Potassium channels.

    Miscellaneous databases

    GeneWikii KCNH7.
    GenomeRNAii 90134.
    NextBioi 76541.
    PROi Q9NS40.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NS40.
    CleanExi HS_KCNH7.
    Genevestigatori Q9NS40.

    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.
    IPR003967. K_chnl_volt-dep_ERG.
    IPR001610. PAC.
    IPR000014. PAS.
    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.
    PR01470. ERGCHANNEL.
    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.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Polynucleotides encoding herg-3 potassium channel."
      Ganetzky B., Titus S.A.
      Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    4. Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiKCNH7_HUMAN
    AccessioniPrimary (citable) accession number: Q9NS40
    Secondary accession number(s): Q53QU4
    , Q53TB7, Q53TP9, Q8IV15
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2002
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 129 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 2
      Human chromosome 2: 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