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Q9NS40

- KCNH7_HUMAN

UniProt

Q9NS40 - KCNH7_HUMAN

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Protein
Potassium voltage-gated channel subfamily H member 7
Gene
KCNH7, ERG3
Organism
Homo sapiens (Human)
Status
Reviewed - 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 – 862118cNMP
Add
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
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: Chromosome 2

Organism-specific databases

HGNCiHGNC:18863. KCNH7.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 412412Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei413 – 43321Helical; Name=Segment S1; Reviewed prediction
Add
BLAST
Topological domaini434 – 44916Extracellular Reviewed prediction
Add
BLAST
Transmembranei450 – 47021Helical; Name=Segment S2; Reviewed prediction
Add
BLAST
Topological domaini471 – 49424Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei495 – 51521Helical; Name=Segment S3; Reviewed prediction
Add
BLAST
Topological domaini516 – 5216Extracellular Reviewed prediction
Transmembranei522 – 54221Helical; Voltage-sensor; Name=Segment S4; Reviewed prediction
Add
BLAST
Topological domaini543 – 5497Cytoplasmic Reviewed prediction
Transmembranei550 – 57021Helical; Name=Segment S5; Reviewed prediction
Add
BLAST
Topological domaini571 – 61444Extracellular Reviewed prediction
Add
BLAST
Intramembranei615 – 63521Pore-forming; Name=Segment H5; Reviewed prediction
Add
BLAST
Topological domaini636 – 6416Extracellular Reviewed prediction
Transmembranei642 – 66221Helical; Name=Segment S6; Reviewed prediction
Add
BLAST
Topological domaini663 – 1196534Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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 7
PRO_0000054015Add
BLAST

Amino acid modifications

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

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.

Protein-protein interaction databases

IntActiQ9NS40. 1 interaction.
STRINGi9606.ENSP00000331727.

Structurei

3D structure databases

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

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini41 – 7030PAS
Add
BLAST
Domaini92 – 14453PAC
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi627 – 6326Selectivity filter By 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

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.

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.
VSP_037116
Alternative sequencei720 – 73920LKGFP…LNQTL → CMSVFQNESAAGIIVIAKME in isoform 2.
VSP_037117Add
BLAST
Alternative sequencei740 – 1196457Missing in isoform 2.
VSP_037118Add
BLAST

Sequence conflict

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

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

« 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: September 3, 2014
This is version 128 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

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