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Protein

Potassium voltage-gated channel subfamily H member 7

Gene

KCNH7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

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: GO_Central

GO - Biological processi

  1. circadian rhythm Source: Ensembl
  2. potassium ion transmembrane transport Source: GO_Central
  3. protein heterooligomerization Source: Ensembl
  4. regulation of membrane potential Source: GO_Central
  5. 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 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 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:18863. KCNH7.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 412412CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei413 – 43321Helical; Name=Segment S1Sequence AnalysisAdd
BLAST
Topological domaini434 – 44916ExtracellularSequence AnalysisAdd
BLAST
Transmembranei450 – 47021Helical; Name=Segment S2Sequence AnalysisAdd
BLAST
Topological domaini471 – 49424CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei495 – 51521Helical; Name=Segment S3Sequence AnalysisAdd
BLAST
Topological domaini516 – 5216ExtracellularSequence Analysis
Transmembranei522 – 54221Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
BLAST
Topological domaini543 – 5497CytoplasmicSequence Analysis
Transmembranei550 – 57021Helical; Name=Segment S5Sequence AnalysisAdd
BLAST
Topological domaini571 – 61444ExtracellularSequence AnalysisAdd
BLAST
Intramembranei615 – 63521Pore-forming; Name=Segment H5Sequence AnalysisAdd
BLAST
Topological domaini636 – 6416ExtracellularSequence Analysis
Transmembranei642 – 66221Helical; Name=Segment S6Sequence AnalysisAdd
BLAST
Topological domaini663 – 1196534CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38723.

Chemistry

DrugBankiDB00590. Doxazosin.
DB00308. Ibutilide.
DB01110. Miconazole.
DB00457. Prazosin.
DB01162. Terazosin.

Polymorphism and mutation databases

BioMutaiKCNH7.
DMDMi229462892.

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
Modified residuei319 – 3191PhosphoserineBy similarity
Glycosylationi600 – 6001N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein, Phosphoprotein

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...

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.
GeneTreeiENSGT00760000118772.
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. AlignAdd to basket

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

        10         20         30         40         50
MPVRRGHVAP QNTFLGTIIR KFEGQNKKFI IANARVQNCA IIYCNDGFCE
60 70 80 90 100
MTGFSRPDVM QKPCTCDFLH GPETKRHDIA QIAQALLGSE ERKVEVTYYH
110 120 130 140 150
KNGSTFICNT HIIPVKNQEG VAMMFIINFE YVTDNENAAT PERVNPILPI
160 170 180 190 200
KTVNRKFFGF KFPGLRVLTY RKQSLPQEDP DVVVIDSSKH SDDSVAMKHF
210 220 230 240 250
KSPTKESCSP SEADDTKALI QPSKCSPLVN ISGPLDHSSP KRQWDRLYPD
260 270 280 290 300
MLQSSSQLSH SRSRESLCSI RRASSVHDIE GFGVHPKNIF RDRHASEDNG
310 320 330 340 350
RNVKGPFNHI KSSLLGSTSD SNLNKYSTIN KIPQLTLNFS EVKTEKKNSS
360 370 380 390 400
PPSSDKTIIA PKVKDRTHNV TEKVTQVLSL GADVLPEYKL QTPRINKFTI
410 420 430 440 450
LHYSPFKAVW DWLILLLVIY TAIFTPYSAA FLLNDREEQK RRECGYSCSP
460 470 480 490 500
LNVVDLIVDI MFIIDILINF RTTYVNQNEE VVSDPAKIAI HYFKGWFLID
510 520 530 540 550
MVAAIPFDLL IFGSGSDETT TLIGLLKTAR LLRLVRVARK LDRYSEYGAA
560 570 580 590 600
VLMLLMCIFA LIAHWLACIW YAIGNVERPY LTDKIGWLDS LGQQIGKRYN
610 620 630 640 650
DSDSSSGPSI KDKYVTALYF TFSSLTSVGF GNVSPNTNSE KIFSICVMLI
660 670 680 690 700
GSLMYASIFG NVSAIIQRLY SGTARYHMQM LRVKEFIRFH QIPNPLRQRL
710 720 730 740 750
EEYFQHAWTY TNGIDMNMVL KGFPECLQAD ICLHLNQTLL QNCKAFRGAS
760 770 780 790 800
KGCLRALAMK FKTTHAPPGD TLVHCGDVLT ALYFLSRGSI EILKDDIVVA
810 820 830 840 850
ILGKNDIFGE MVHLYAKPGK SNADVRALTY CDLHKIQRED LLEVLDMYPE
860 870 880 890 900
FSDHFLTNLE LTFNLRHESA KADLLRSQSM NDSEGDNCKL RRRKLSFESE
910 920 930 940 950
GEKENSTNDP EDSADTIRHY QSSKRHFEEK KSRSSSFISS IDDEQKPLFS
960 970 980 990 1000
GIVDSSPGIG KASGLDFEET VPTSGRMHID KRSHSCKDIT DMRSWERENA
1010 1020 1030 1040 1050
HPQPEDSSPS ALQRAAWGIS ETESDLTYGE VEQRLDLLQE QLNRLESQMT
1060 1070 1080 1090 1100
TDIQTILQLL QKQTTVVPPA YSMVTAGSEY QRPIIQLMRT SQPEASIKTD
1110 1120 1130 1140 1150
RSFSPSSQCP EFLDLEKSKL KSKESLSSGV HLNTASEDNL TSLLKQDSDL
1160 1170 1180 1190
SLELHLRQRK TYVHPIRHPS LPDSSLSTVG IVGLHRHVSD PGLPGK
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. Curated

Experimental Info

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

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:
EMBLi
GenBanki
DDBJi
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 and mutation databases

BioMutaiKCNH7.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

IntActiQ9NS40. 1 interaction.
STRINGi9606.ENSP00000331727.

Chemistry

ChEMBLiCHEMBL2362996.
DrugBankiDB00590. Doxazosin.
DB00308. Ibutilide.
DB01110. Miconazole.
DB00457. Prazosin.
DB01162. Terazosin.

PTM databases

PhosphoSiteiQ9NS40.

Polymorphism and mutation databases

BioMutaiKCNH7.
DMDMi229462892.

Proteomic databases

PaxDbiQ9NS40.
PRIDEiQ9NS40.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi90134.
GeneCardsiGC02M163191.
HGNCiHGNC:18863. KCNH7.
HPAiHPA018039.
MIMi608169. gene.
neXtProtiNX_Q9NS40.
PharmGKBiPA38723.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG2202.
GeneTreeiENSGT00760000118772.
HOGENOMiHOG000230793.
HOVERGENiHBG052232.
InParanoidiQ9NS40.
KOiK04910.
OMAiESQMTTD.
OrthoDBiEOG75B879.
PhylomeDBiQ9NS40.
TreeFamiTF313130.

Enzyme and pathway databases

ReactomeiREACT_75770. Voltage gated Potassium channels.

Miscellaneous databases

ChiTaRSiKCNH7. human.
GeneWikiiKCNH7.
GenomeRNAii90134.
NextBioi76541.
PROiQ9NS40.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NS40.
CleanExiHS_KCNH7.
GenevestigatoriQ9NS40.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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: April 29, 2015
This is version 135 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.