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Protein

Potassium voltage-gated channel subfamily H member 7

Gene

KCNH7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
Nucleotide bindingi745 – 862cNMPAdd BLAST118

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

ReactomeiR-HSA-1296072 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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000184611.11
HGNCiHGNC:18863 KCNH7
MIMi608169 gene
neXtProtiNX_Q9NS40

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 412CytoplasmicSequence analysisAdd BLAST412
Transmembranei413 – 433Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini434 – 449ExtracellularSequence analysisAdd BLAST16
Transmembranei450 – 470Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini471 – 494CytoplasmicSequence analysisAdd BLAST24
Transmembranei495 – 515Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini516 – 521ExtracellularSequence analysis6
Transmembranei522 – 542Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST21
Topological domaini543 – 549CytoplasmicSequence analysis7
Transmembranei550 – 570Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini571 – 614ExtracellularSequence analysisAdd BLAST44
Intramembranei615 – 635Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Topological domaini636 – 641ExtracellularSequence analysis6
Transmembranei642 – 662Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini663 – 1196CytoplasmicSequence analysisAdd BLAST534

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi90134
OpenTargetsiENSG00000184611
PharmGKBiPA38723

Chemistry databases

ChEMBLiCHEMBL2362996
DrugBankiDB00590 Doxazosin
DB00308 Ibutilide
DB01110 Miconazole
DB00457 Prazosin
DB01162 Terazosin

Polymorphism and mutation databases

BioMutaiKCNH7
DMDMi229462892

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000540151 – 1196Potassium voltage-gated channel subfamily H member 7Add BLAST1196

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei174PhosphoserineBy similarity1
Modified residuei238PhosphoserineBy similarity1
Modified residuei319PhosphoserineBy similarity1
Glycosylationi600N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei896PhosphoserineBy similarity1
Modified residuei899PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9NS40
PaxDbiQ9NS40
PeptideAtlasiQ9NS40
PRIDEiQ9NS40

PTM databases

iPTMnetiQ9NS40
PhosphoSitePlusiQ9NS40

Expressioni

Tissue specificityi

Expressed in prolactin-secreting adenomas.1 Publication

Gene expression databases

BgeeiENSG00000184611
CleanExiHS_KCNH7
ExpressionAtlasiQ9NS40 baseline and differential
GenevisibleiQ9NS40 HS

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

BioGridi124667, 1 interactor
IntActiQ9NS40, 1 interactor
STRINGi9606.ENSP00000331727

Structurei

3D structure databases

ProteinModelPortaliQ9NS40
SMRiQ9NS40
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini41 – 70PASAdd BLAST30
Domaini92 – 144PACAdd BLAST53

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi627 – 632Selectivity filterBy similarity6

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0498 Eukaryota
ENOG410XPSE LUCA
GeneTreeiENSGT00900000140833
HOGENOMiHOG000230793
HOVERGENiHBG052232
InParanoidiQ9NS40
KOiK04910
OMAiQMTTDIQ
OrthoDBiEOG091G024C
PhylomeDBiQ9NS40
TreeFamiTF313130

Family and domain databases

CDDicd00038 CAP_ED, 1 hit
cd00130 PAS, 1 hit
Gene3Di1.20.120.350, 1 hit
2.60.120.10, 1 hit
InterProiView protein in InterPro
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
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR014710 RmlC-like_jellyroll
IPR027359 Volt_channel_dom_sf
PfamiView protein in Pfam
PF00027 cNMP_binding, 1 hit
PF00520 Ion_trans, 1 hit
PF13426 PAS_9, 1 hit
PRINTSiPR01463 EAGCHANLFMLY
PR01470 ERGCHANNEL
SMARTiView protein in SMART
SM00100 cNMP, 1 hit
SUPFAMiSSF51206 SSF51206, 1 hit
SSF55785 SSF55785, 1 hit
TIGRFAMsiTIGR00229 sensory_box, 1 hit
PROSITEiView protein in PROSITE
PS50042 CNMP_BINDING_3, 1 hit

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 differs from that shown. Reason: Frameshift at positions 792 and 795.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti555L → S in AAD01946 (Ref. 1) Curated1
Sequence conflicti562I → N in AAD01946 (Ref. 1) Curated1
Sequence conflicti767 – 768PP → LQ in AAD01946 (Ref. 1) Curated2
Sequence conflicti797I → M in AAD01946 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057767958G → A. Corresponds to variant dbSNP:rs6757850Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037116298 – 304Missing in isoform 2. 1 Publication7
Alternative sequenceiVSP_037117720 – 739LKGFP…LNQTL → CMSVFQNESAAGIIVIAKME in isoform 2. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_037118740 – 1196Missing in isoform 2. 1 PublicationAdd BLAST457

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.3 human [Q9NS40-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKCNH7_HUMAN
AccessioniPrimary (citable) accession number: Q9NS40
Secondary accession number(s): Q53QU4
, Q53TB7, Q53TP9, Q8IV15
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: May 5, 2009
Last modified: February 28, 2018
This is version 159 of the entry and version 2 of the sequence. See 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

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