Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9H252

- KCNH6_HUMAN

UniProt

Q9H252 - KCNH6_HUMAN

Protein

Potassium voltage-gated channel subfamily H member 6

Gene

KCNH6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, rectifying current By similarity. Channel properties may be modulated by cAMP and subunit assembly.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi594 – 711118cNMPAdd
    BLAST

    GO - Molecular functioni

    1. signal transducer 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 6
    Alternative name(s):
    Ether-a-go-go-related gene potassium channel 2
    Short name:
    ERG-2
    Short name:
    Eag-related protein 2
    Short name:
    Ether-a-go-go-related protein 2
    Short name:
    hERG-2
    Short name:
    hERG2
    Voltage-gated potassium channel subunit Kv11.2
    Gene namesi
    Name:KCNH6
    Synonyms:ERG2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:18862. KCNH6.

    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

    PharmGKBiPA38722.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 994994Potassium voltage-gated channel subfamily H member 6PRO_0000054013Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi449 – 4491N-linked (GlcNAc...) (complex)1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9H252.
    PRIDEiQ9H252.

    PTM databases

    PhosphoSiteiQ9H252.

    Expressioni

    Tissue specificityi

    Expressed in prolactin-secreting adenomas.1 Publication

    Gene expression databases

    ArrayExpressiQ9H252.
    BgeeiQ9H252.
    CleanExiHS_KCNH6.
    GenevestigatoriQ9H252.

    Organism-specific databases

    HPAiCAB006838.
    CAB022674.

    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. Heteromultimers with KCNH2/ERG1 and KCNH7/ERG3 By similarity.By similarity

    Protein-protein interaction databases

    STRINGi9606.ENSP00000318212.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H252.
    SMRiQ9H252. Positions 1-164, 421-514, 522-716.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 261261CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini283 – 29816ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini320 – 34021CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini362 – 3709ExtracellularSequence Analysis
    Topological domaini392 – 3987CytoplasmicSequence Analysis
    Topological domaini420 – 46344ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini485 – 4906ExtracellularSequence Analysis
    Topological domaini512 – 994483CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei464 – 48421Pore-forming; Name=Segment H5Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei262 – 28221Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei299 – 31921Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei341 – 36121Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei371 – 39121Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei399 – 41921Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei491 – 51121Helical; 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
    Motifi476 – 4816Selectivity 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.
    InParanoidiQ9H252.
    KOiK04909.
    OMAiMYPAFAD.
    OrthoDBiEOG75B879.
    PhylomeDBiQ9H252.
    TreeFamiTF313130.

    Family and domain databases

    Gene3Di2.60.120.10. 2 hits.
    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.
    [Graphical view]
    SUPFAMiSSF51206. SSF51206. 1 hit.
    SSF55785. SSF55785. 1 hit.
    PROSITEiPS50042. CNMP_BINDING_3. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Note: Experimental confirmation may be lacking for some isoforms.

    Isoform 1 (identifier: Q9H252-1) [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 QNTYLDTIIR KFEGQSRKFL IANAQMENCA IIYCNDGFCE    50
    LFGYSRVEVM QQPCTCDFLT GPNTPSSAVS RLAQALLGAE ECKVDILYYR 100
    KDASSFRCLV DVVPVKNEDG AVIMFILNFE DLAQLLAKCS SRSLSQRLLS 150
    QSFLGSEGSH GRPGGPGPGT GRGKYRTISQ IPQFTLNFVE FNLEKHRSSS 200
    TTEIEIIAPH KVVERTQNVT EKVTQVLSLG ADVLPEYKLQ APRIHRWTIL 250
    HYSPFKAVWD WLILLLVIYT AVFTPYSAAF LLSDQDESRR GACSYTCSPL 300
    TVVDLIVDIM FVVDIVINFR TTYVNTNDEV VSHPRRIAVH YFKGWFLIDM 350
    VAAIPFDLLI FRTGSDETTT LIGLLKTARL LRLVRVARKL DRYSEYGAAV 400
    LFLLMCTFAL IAHWLACIWY AIGNVERPYL EHKIGWLDSL GVQLGKRYNG 450
    SDPASGPSVQ DKYVTALYFT FSSLTSVGFG NVSPNTNSEK VFSICVMLIG 500
    SLMYASIFGN VSAIIQRLYS GTARYHTQML RVKEFIRFHQ IPNPLRQRLE 550
    EYFQHAWSYT NGIDMNAVLK GFPECLQADI CLHLHRALLQ HCPAFSGAGK 600
    GCLRALAVKF KTTHAPPGDT LVHLGDVLST LYFISRGSIE ILRDDVVVAI 650
    LGKNDIFGEP VSLHAQPGKS SADVRALTYC DLHKIQRADL LEVLDMYPAF 700
    AESFWSKLEV TFNLRDAAGG LHSSPRQAPG SQDHQGFFLS DNQSGSPHEL 750
    GPQFPSKGYS LLGPGSQNSM GAGPCAPGHP DAAPPLSISD ASGLWPELLQ 800
    EMPPRHSPQS PQEDPDCWPL KLGSRLEQLQ AQMNRLESRV SSDLSRILQL 850
    LQKPMPQGHA SYILEAPASN DLALVPIASE TTSPGPRLPQ GFLPPAQTPS 900
    YGDLDDCSPK HRNSSPRMPH LAVATDKTLA PSSEQEQPEG LWPPLASPLH 950
    PLEVQGLICG PCFSSLPEHL GSVPKQLDFQ RHGSDPGFAG SWGH 994
    Length:994
    Mass (Da):109,925
    Last modified:March 1, 2001 - v1
    Checksum:iBE9ECB349A798576
    GO
    Isoform 2 (identifier: Q9H252-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         419-472: WYAIGNVERPYLEHKIGWLDSLGVQLGKRYNGSDPASGPSVQDKYVTALYFTFS → C
         745-780: Missing.

    Show »
    Length:905
    Mass (Da):100,450
    Checksum:i0556E274946D2B7E
    GO
    Isoform 3 (identifier: Q9H252-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         501-502: SL → CE
         503-994: Missing.

    Show »
    Length:502
    Mass (Da):56,298
    Checksum:i6CBD9F336841809B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti963 – 9631F → L in BAC03764. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti165 – 1651G → R.
    Corresponds to variant rs35399062 [ dbSNP | Ensembl ].
    VAR_053857
    Natural varianti925 – 9251T → M.1 Publication
    Corresponds to variant rs35819807 [ dbSNP | Ensembl ].
    VAR_053858

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei419 – 47254WYAIG…YFTFS → C in isoform 2. 1 PublicationVSP_000977Add
    BLAST
    Alternative sequencei501 – 5022SL → CE in isoform 3. 1 PublicationVSP_000979
    Alternative sequencei503 – 994492Missing in isoform 3. 1 PublicationVSP_000980Add
    BLAST
    Alternative sequencei745 – 78036Missing in isoform 2. 1 PublicationVSP_000978Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF311913 mRNA. Translation: AAG40871.1.
    AK090969 mRNA. Translation: BAC03559.1.
    AK091877 mRNA. Translation: BAC03764.1.
    BC006334 mRNA. Translation: AAH06334.1.
    CCDSiCCDS11638.1. [Q9H252-1]
    CCDS11639.1. [Q9H252-2]
    RefSeqiNP_001265848.1. NM_001278919.1.
    NP_001265849.1. NM_001278920.1.
    NP_110406.1. NM_030779.3. [Q9H252-1]
    NP_775115.1. NM_173092.2. [Q9H252-2]
    UniGeneiHs.591177.

    Genome annotation databases

    EnsembliENST00000456941; ENSP00000396900; ENSG00000173826. [Q9H252-2]
    ENST00000580652; ENSP00000464672; ENSG00000173826. [Q9H252-3]
    ENST00000581784; ENSP00000463830; ENSG00000173826. [Q9H252-2]
    ENST00000583023; ENSP00000463533; ENSG00000173826. [Q9H252-1]
    GeneIDi81033.
    KEGGihsa:81033.
    UCSCiuc002jax.1. human. [Q9H252-3]
    uc002jay.3. human. [Q9H252-1]
    uc002jaz.1. human. [Q9H252-2]

    Polymorphism databases

    DMDMi26006810.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF311913 mRNA. Translation: AAG40871.1 .
    AK090969 mRNA. Translation: BAC03559.1 .
    AK091877 mRNA. Translation: BAC03764.1 .
    BC006334 mRNA. Translation: AAH06334.1 .
    CCDSi CCDS11638.1. [Q9H252-1 ]
    CCDS11639.1. [Q9H252-2 ]
    RefSeqi NP_001265848.1. NM_001278919.1.
    NP_001265849.1. NM_001278920.1.
    NP_110406.1. NM_030779.3. [Q9H252-1 ]
    NP_775115.1. NM_173092.2. [Q9H252-2 ]
    UniGenei Hs.591177.

    3D structure databases

    ProteinModelPortali Q9H252.
    SMRi Q9H252. Positions 1-164, 421-514, 522-716.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000318212.

    Chemistry

    ChEMBLi CHEMBL2362996.
    DrugBanki DB00308. Ibutilide.
    GuidetoPHARMACOLOGYi 573.

    PTM databases

    PhosphoSitei Q9H252.

    Polymorphism databases

    DMDMi 26006810.

    Proteomic databases

    PaxDbi Q9H252.
    PRIDEi Q9H252.

    Protocols and materials databases

    DNASUi 81033.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000456941 ; ENSP00000396900 ; ENSG00000173826 . [Q9H252-2 ]
    ENST00000580652 ; ENSP00000464672 ; ENSG00000173826 . [Q9H252-3 ]
    ENST00000581784 ; ENSP00000463830 ; ENSG00000173826 . [Q9H252-2 ]
    ENST00000583023 ; ENSP00000463533 ; ENSG00000173826 . [Q9H252-1 ]
    GeneIDi 81033.
    KEGGi hsa:81033.
    UCSCi uc002jax.1. human. [Q9H252-3 ]
    uc002jay.3. human. [Q9H252-1 ]
    uc002jaz.1. human. [Q9H252-2 ]

    Organism-specific databases

    CTDi 81033.
    GeneCardsi GC17P061600.
    HGNCi HGNC:18862. KCNH6.
    HPAi CAB006838.
    CAB022674.
    MIMi 608168. gene.
    neXtProti NX_Q9H252.
    PharmGKBi PA38722.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2202.
    HOGENOMi HOG000230793.
    HOVERGENi HBG052232.
    InParanoidi Q9H252.
    KOi K04909.
    OMAi MYPAFAD.
    OrthoDBi EOG75B879.
    PhylomeDBi Q9H252.
    TreeFami TF313130.

    Enzyme and pathway databases

    Reactomei REACT_75770. Voltage gated Potassium channels.

    Miscellaneous databases

    GeneWikii KCNH6.
    GenomeRNAii 81033.
    NextBioi 71366.
    PROi Q9H252.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H252.
    Bgeei Q9H252.
    CleanExi HS_KCNH6.
    Genevestigatori Q9H252.

    Family and domain databases

    Gene3Di 2.60.120.10. 2 hits.
    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.
    [Graphical view ]
    SUPFAMi SSF51206. SSF51206. 1 hit.
    SSF55785. SSF55785. 1 hit.
    PROSITEi PS50042. CNMP_BINDING_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human Eag-related gene member 2 (Herg2) potassium channel."
      Titus S.A., Ganetzky B.S.
      Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT MET-925.
      Tissue: Amygdala and Kidney.
    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 3).
      Tissue: Uterus.
    4. Cited for: TISSUE SPECIFICITY.
    5. Cited for: GLYCOSYLATION AT ASN-449.

    Entry informationi

    Entry nameiKCNH6_HUMAN
    AccessioniPrimary (citable) accession number: Q9H252
    Secondary accession number(s): Q9BRD7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2002
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 130 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