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Q9NS40 (KCNH7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:KCNH7
Synonyms:ERG3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1196 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly.

Subunit structure

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.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Expressed in prolactin-secreting adenomas. Ref.4

Domain

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.

Sequence similarities

Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.3/KCNH7 sub-subfamily. [View classification]

Contains 1 cyclic nucleotide-binding domain.

Contains 1 PAC (PAS-associated C-terminal) domain.

Contains 1 PAS (PER-ARNT-SIM) domain.

Sequence caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NS40-1)

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.
Isoform 2 (identifier: Q9NS40-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11961196Potassium voltage-gated channel subfamily H member 7
PRO_0000054015

Regions

Topological domain1 – 412412Cytoplasmic Potential
Transmembrane413 – 43321Helical; Name=Segment S1; Potential
Topological domain434 – 44916Extracellular Potential
Transmembrane450 – 47021Helical; Name=Segment S2; Potential
Topological domain471 – 49424Cytoplasmic Potential
Transmembrane495 – 51521Helical; Name=Segment S3; Potential
Topological domain516 – 5216Extracellular Potential
Transmembrane522 – 54221Helical; Voltage-sensor; Name=Segment S4; Potential
Topological domain543 – 5497Cytoplasmic Potential
Transmembrane550 – 57021Helical; Name=Segment S5; Potential
Topological domain571 – 61444Extracellular Potential
Intramembrane615 – 63521Pore-forming; Name=Segment H5; Potential
Topological domain636 – 6416Extracellular Potential
Transmembrane642 – 66221Helical; Name=Segment S6; Potential
Topological domain663 – 1196534Cytoplasmic Potential
Domain41 – 7030PAS
Domain92 – 14453PAC
Nucleotide binding745 – 862118cNMP
Motif627 – 6326Selectivity filter By similarity

Amino acid modifications

Glycosylation6001N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence298 – 3047Missing in isoform 2.
VSP_037116
Alternative sequence720 – 73920LKGFP…LNQTL → CMSVFQNESAAGIIVIAKME in isoform 2.
VSP_037117
Alternative sequence740 – 1196457Missing in isoform 2.
VSP_037118
Natural variant9581G → A.
Corresponds to variant rs6757850 [ dbSNP | Ensembl ].
VAR_057767

Experimental info

Sequence conflict5551L → S in AAD01946. Ref.1
Sequence conflict5621I → N in AAD01946. Ref.1
Sequence conflict767 – 7682PP → LQ in AAD01946. Ref.1
Sequence conflict7971I → M in AAD01946. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 5, 2009. Version 2.
Checksum: A22D046D02C2A759

FASTA1,196135,000
        10         20         30         40         50         60 
MPVRRGHVAP QNTFLGTIIR KFEGQNKKFI IANARVQNCA IIYCNDGFCE MTGFSRPDVM 

        70         80         90        100        110        120 
QKPCTCDFLH GPETKRHDIA QIAQALLGSE ERKVEVTYYH KNGSTFICNT HIIPVKNQEG 

       130        140        150        160        170        180 
VAMMFIINFE YVTDNENAAT PERVNPILPI KTVNRKFFGF KFPGLRVLTY RKQSLPQEDP 

       190        200        210        220        230        240 
DVVVIDSSKH SDDSVAMKHF KSPTKESCSP SEADDTKALI QPSKCSPLVN ISGPLDHSSP 

       250        260        270        280        290        300 
KRQWDRLYPD MLQSSSQLSH SRSRESLCSI RRASSVHDIE GFGVHPKNIF RDRHASEDNG 

       310        320        330        340        350        360 
RNVKGPFNHI KSSLLGSTSD SNLNKYSTIN KIPQLTLNFS EVKTEKKNSS PPSSDKTIIA 

       370        380        390        400        410        420 
PKVKDRTHNV TEKVTQVLSL GADVLPEYKL QTPRINKFTI LHYSPFKAVW DWLILLLVIY 

       430        440        450        460        470        480 
TAIFTPYSAA FLLNDREEQK RRECGYSCSP LNVVDLIVDI MFIIDILINF RTTYVNQNEE 

       490        500        510        520        530        540 
VVSDPAKIAI HYFKGWFLID MVAAIPFDLL IFGSGSDETT TLIGLLKTAR LLRLVRVARK 

       550        560        570        580        590        600 
LDRYSEYGAA VLMLLMCIFA LIAHWLACIW YAIGNVERPY LTDKIGWLDS LGQQIGKRYN 

       610        620        630        640        650        660 
DSDSSSGPSI KDKYVTALYF TFSSLTSVGF GNVSPNTNSE KIFSICVMLI GSLMYASIFG 

       670        680        690        700        710        720 
NVSAIIQRLY SGTARYHMQM LRVKEFIRFH QIPNPLRQRL EEYFQHAWTY TNGIDMNMVL 

       730        740        750        760        770        780 
KGFPECLQAD ICLHLNQTLL QNCKAFRGAS KGCLRALAMK FKTTHAPPGD TLVHCGDVLT 

       790        800        810        820        830        840 
ALYFLSRGSI EILKDDIVVA ILGKNDIFGE MVHLYAKPGK SNADVRALTY CDLHKIQRED 

       850        860        870        880        890        900 
LLEVLDMYPE FSDHFLTNLE LTFNLRHESA KADLLRSQSM NDSEGDNCKL RRRKLSFESE 

       910        920        930        940        950        960 
GEKENSTNDP EDSADTIRHY QSSKRHFEEK KSRSSSFISS IDDEQKPLFS GIVDSSPGIG 

       970        980        990       1000       1010       1020 
KASGLDFEET VPTSGRMHID KRSHSCKDIT DMRSWERENA HPQPEDSSPS ALQRAAWGIS 

      1030       1040       1050       1060       1070       1080 
ETESDLTYGE VEQRLDLLQE QLNRLESQMT TDIQTILQLL QKQTTVVPPA YSMVTAGSEY 

      1090       1100       1110       1120       1130       1140 
QRPIIQLMRT SQPEASIKTD RSFSPSSQCP EFLDLEKSKL KSKESLSSGV HLNTASEDNL 

      1150       1160       1170       1180       1190 
TSLLKQDSDL SLELHLRQRK TYVHPIRHPS LPDSSLSTVG IVGLHRHVSD PGLPGK 

« Hide

Isoform 2 [UniParc].

Checksum: 42E86D3AA12E495D
Show »

FASTA73282,904

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"HERG K(+) currents in human prolactin-secreting adenoma cells."
Bauer C.K., Wulfsen I., Schaefer R., Glassmeier G., Wimmers S., Flitsch J., Luedecke D.K., Schwarz J.R.
Pflugers Arch. 445:589-600(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_150375.2. NM_033272.3.
NP_775185.1. NM_173162.2.
UniGeneHs.657413.

3D structure databases

ProteinModelPortalQ9NS40.
SMRQ9NS40. Positions 1-134, 572-667, 673-868.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9NS40. 1 interaction.
STRING9606.ENSP00000331727.

Chemistry

ChEMBLCHEMBL2362996.
DrugBankDB00308. Ibutilide.

PTM databases

PhosphoSiteQ9NS40.

Polymorphism databases

DMDM229462892.

Proteomic databases

PaxDbQ9NS40.
PRIDEQ9NS40.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000328032; ENSP00000333781; ENSG00000184611. [Q9NS40-2]
ENST00000332142; ENSP00000331727; ENSG00000184611. [Q9NS40-1]
GeneID90134.
KEGGhsa:90134.
UCSCuc002uch.2. human. [Q9NS40-1]
uc002uci.3. human. [Q9NS40-2]

Organism-specific databases

CTD90134.
GeneCardsGC02M163191.
HGNCHGNC:18863. KCNH7.
HPAHPA018039.
MIM608169. gene.
neXtProtNX_Q9NS40.
PharmGKBPA38723.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2202.
HOGENOMHOG000230793.
HOVERGENHBG052232.
InParanoidQ9NS40.
KOK04910.
OMAFEETVPT.
OrthoDBEOG75B879.
PhylomeDBQ9NS40.
TreeFamTF313130.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

BgeeQ9NS40.
CleanExHS_KCNH7.
GenevestigatorQ9NS40.

Family and domain databases

Gene3D2.60.120.10. 1 hit.
InterProIPR018490. 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]
PfamPF00027. cNMP_binding. 1 hit.
PF00520. Ion_trans. 1 hit.
PF13426. PAS_9. 1 hit.
[Graphical view]
PRINTSPR01463. EAGCHANLFMLY.
PR01470. ERGCHANNEL.
SMARTSM00100. cNMP. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 1 hit.
[Graphical view]
SUPFAMSSF51206. SSF51206. 1 hit.
SSF55785. SSF55785. 1 hit.
TIGRFAMsTIGR00229. sensory_box. 1 hit.
PROSITEPS50042. CNMP_BINDING_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKCNH7.
GenomeRNAi90134.
NextBio76541.
PROQ9NS40.
SOURCESearch...

Entry information

Entry nameKCNH7_HUMAN
AccessionPrimary (citable) accession number: Q9NS40
Secondary accession number(s): Q53QU4 expand/collapse secondary AC list , Q53TB7, Q53TP9, Q8IV15
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: May 5, 2009
Last modified: April 16, 2014
This is version 124 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM