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Reviewed, UniProtKB/Swiss-Prot O95259 (KCNH1_HUMAN)

Last modified May 26, 2009. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Potassium voltage-gated channel subfamily H member 1
Alternative name(s):
    Voltage-gated potassium channel subunit Kv10.1
    Ether-a-go-go potassium channel 1
      Short name=hEAG1
      Short name=h-eag
Gene names
Name: KCNH1
Synonyms: EAG, EAG1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length989 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

Pore-forming (alpha) subunit of voltage-gated non-inactivating delayed rectifier potassium channel. Channel properties may be modulated by cAMP and subunit assembly. Mediates IK(NI) current in myoblasts.

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 KCNH5/EAG2. Interacts with ALG10B By similarity.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Highly expressed in brain and in myoblasts at the onset of fusion, but not in other tissues. Detected in HeLa (cervical carcinoma), SH-SY5Y (neuroblastoma) and MCF-7 (epithelial tumor) cells, but not in normal epithelial cells.

Domain

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Ref.3

Involvement in disease

Overexpression of EAG may confer a growth advantage to cancer cells and favor tumor cell proliferation.

Sequence similarities

Belongs to the potassium channel family. H (Eag) subfamily.

Contains 1 cyclic nucleotide-binding domain.

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

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

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Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 (identifier: O95259-1)

Also known as: hEAGB;

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 1 (identifier: O95259-2)

Also known as: hEAG;

The sequence of this isoform differs from the canonical sequence as follows:
     318-344: Missing.

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 989989Potassium voltage-gated channel subfamily H member 1
PRO_0000053994

Regions

Topological domain1 – 220220Cytoplasmic Potential
Transmembrane221 – 24121Segment S1 Potential
Transmembrane249 – 26921Segment S2 Potential
Topological domain270 – 29425Cytoplasmic Potential
Transmembrane295 – 31521Segment S3 Potential
Transmembrane350 – 37021Segment S4 Potential
Topological domain371 – 3766Cytoplasmic Potential
Transmembrane377 – 39721Segment S5 Potential
Transmembrane478 – 49821Segment S6 Potential
Topological domain499 – 989491Cytoplasmic Potential
Domain14 – 9481PAS
Domain93 – 14553PAC
Nucleotide binding581 – 698118cNMP
Region451 – 47121Segment H5 (pore-forming) Potential
Region673 – 77098Calmodulin-binding
Region924 – 96441CAD (involved in subunit assembly) By similarity
Motif463 – 4686Selectivity filter By similarity

Amino acid modifications

Glycosylation4151N-linked (GlcNAc...) Potential
Glycosylation4331N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence318 – 34427Missing in isoform 1.
VSP_000964

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Sequences

Sequence LengthMass (Da)Tools
Isoform 2 (hEAGB) [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: CAA8CB251300C7E5

FASTA989111,423
        10         20         30         40         50         60 
MTMAGGRRGL VAPQNTFLEN IVRRSNDTNF VLGNAQIVDW PIVYSNDGFC KLSGYHRAEV 

        70         80         90        100        110        120 
MQKSSTCSFM YGELTDKDTI EKVRQTFENY EMNSFEILMY KKNRTPVWFF VKIAPIRNEQ 

       130        140        150        160        170        180 
DKVVLFLCTF SDITAFKQPI EDDSCKGWGK FARLTRALTS SRGVLQQLAP SVQKGENVHK 

       190        200        210        220        230        240 
HSRLAEVLQL GSDILPQYKQ EAPKTPPHII LHYCVFKTTW DWIILILTFY TAILVPYNVS 

       250        260        270        280        290        300 
FKTRQNNVAW LVVDSIVDVI FLVDIVLNFH TTFVGPAGEV ISDPKLIRMN YLKTWFVIDL 

       310        320        330        340        350        360 
LSCLPYDVIN AFENVDEVSA FMGDPGKIGF ADQIPPPLEG RESQGISSLF SSLKVVRLLR 

       370        380        390        400        410        420 
LGRVARKLDH YIEYGAAVLV LLVCVFGLAA HWMACIWYSI GDYEIFDEDT KTIRNNSWLY 

       430        440        450        460        470        480 
QLAMDIGTPY QFNGSGSGKW EGGPSKNSVY ISSLYFTMTS LTSVGFGNIA PSTDIEKIFA 

       490        500        510        520        530        540 
VAIMMIGSLL YATIFGNVTT IFQQMYANTN RYHEMLNSVR DFLKLYQVPK GLSERVMDYI 

       550        560        570        580        590        600 
VSTWSMSRGI DTEKVLQICP KDMRADICVH LNRKVFKEHP AFRLASDGCL RALAMEFQTV 

       610        620        630        640        650        660 
HCAPGDLIYH AGESVDSLCF VVSGSLEVIQ DDEVVAILGK GDVFGDVFWK EATLAQSCAN 

       670        680        690        700        710        720 
VRALTYCDLH VIKRDALQKV LEFYTAFSHS FSRNLILTYN LRKRIVFRKI SDVKREEEER 

       730        740        750        760        770        780 
MKRKNEAPLI LPPDHPVRRL FQRFRQQKEA RLAAERGGRD LDDLDVEKGN VLTEHASANH 

       790        800        810        820        830        840 
SLVKASVVTV RESPATPVSF QAASTSGVPD HAKLQAPGSE CLGPKGGGGD CAKRKSWARF 

       850        860        870        880        890        900 
KDACGKSEDW NKVSKAESME TLPERTKASG EATLKKTDSC DSGITKSDLR LDNVGEARSP 

       910        920        930        940        950        960 
QDRSPILAEV KHSFYPIPEQ TLQATVLEVR HELKEDIKAL NAKMTNIEKQ LSEILRILTS 

       970        980 
RRSSQSPQEL FEISRPQSPE SERDIFGAS

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Isoform 1 (hEAG).

Checksum: 9CC995AFF156582D
Show »

FASTA962108,597

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References

[1]"Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion."
Occhiodoro T., Bernheim L., Liu J.-H., Bijlenga P., Sinnreich M., Bader C.R., Fischer-Lougheed J.
FEBS Lett. 434:177-182(1998) [PubMed: 9738473] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Myoblast.
[2]"Oncogenic potential of EAG K(+) channels."
Pardo L.A., del Camino D., Sanchez A., Alves F., Brueggemann A., Beckh S., Stuehmer W.
EMBO J. 18:5540-5547(1999) [PubMed: 10523298] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
Tissue: Brain.
[3]"Inhibition of human ether a go-go potassium channels by Ca(2+)/calmodulin."
Schoenherr R., Lober K., Heinemann S.H.
EMBO J. 19:3263-3271(2000) [PubMed: 10880439] [Abstract]
Cited for: CALMODULIN-BINDING DOMAIN.
[4]"Functional distinction of human EAG1 and EAG2 potassium channels."
Schoenherr R., Gessner G., Loeber K., Heinemann S.H.
FEBS Lett. 514:204-208(2002) [PubMed: 11943152] [Abstract]
Cited for: INTERACTION WITH KCNH5.
+Additional computationally mapped references.

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Cross-references

Sequence databases

AJ001366 mRNA. Translation: CAA04700.1.
AF078741 mRNA. Translation: AAC68668.1.
AF078742 mRNA. Translation: AAC68669.1.
IPIIPI00098591.
IPI00221201.
RefSeqNP_002229.1.
NP_758872.1.
UniGeneHs.553187

3D structure databases

HSSPHSSP built from PDB template 1BYW based on UniProtKB Q12809.
ModBaseSearch...

PTM databases

PhosphoSiteO95259.

Proteomic databases

PRIDEO95259.

Genome annotation databases

EnsemblENSG00000143473. Homo sapiens. [Contig view]
GeneID3756.
KEGGhsa:3756.

Organism-specific databases

GeneCardsGC01M208923.
H-InvDBHIX0028534.
HGNCHGNC:6250. KCNH1.
MIM603305. gene.
PharmGKBPA30037.
GenAtlasSearch...

Phylogenomic databases

HOGENOMO95259.
HOVERGENO95259.
OMAO95259. KGEDWNK.

Gene expression databases

ArrayExpressO95259.
BgeeO95259.
CleanExHS_KCNH1.
GermOnlineENSG00000143473. Homo sapiens.

Family and domain databases

InterProIPR000595. cNMP_bd.
IPR018488. cNMP_bd_CS.
IPR005821. Ion_trans.
IPR003949. K_chnl_volt-dep_EAG.
IPR003938. K_chnl_volt-dep_EAG/ELK/ERG.
IPR001610. PAC.
IPR000014. PAS.
IPR000700. PAS-assoc_C.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
Gene3DG3DSA:2.60.120.10. RmlC-like_jellyroll. 1 hit.
PfamPF00027. cNMP_binding. 1 hit.
PF00520. Ion_trans. 1 hit.
[Graphical view]
PRINTSPR01463. EAGCHANLFMLY.
PR01464. EAGCHANNEL.
SMARTSM00100. cNMP. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 1 hit.
[Graphical view]
TIGRFAMsTIGR00229. sensory_box. 1 hit.
PROSITEPS00888. CNMP_BINDING_1. False negative.
PS00889. CNMP_BINDING_2. False negative.
PS50042. CNMP_BINDING_3. 1 hit.
PS50113. PAC. 1 hit.
PS50112. PAS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio14711.
SOURCESearch...

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Entry information

Entry nameKCNH1_HUMAN
AccessionPrimary (citable) accession number: O95259
Secondary accession number(s): O76035
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: May 1, 1999
Last modified: May 26, 2009
This is version 84 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents