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Q96L42 (KCNH8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 123. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Potassium voltage-gated channel subfamily H member 8
Alternative name(s):
ELK1
Short name=hElk1
Ether-a-go-go-like potassium channel 3
Short name=ELK channel 3
Short name=ELK3
Voltage-gated potassium channel subunit Kv12.1
Gene names
Name:KCNH8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1107 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward rectifying current. 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.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Primarily expressed in the nervous system. 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. Kv12.1/KCNH8 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 annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11071107Potassium voltage-gated channel subfamily H member 8
PRO_0000054018

Regions

Topological domain1 – 225225Cytoplasmic Potential
Transmembrane226 – 24621Helical; Name=Segment S1; Potential
Topological domain247 – 2559Extracellular Potential
Transmembrane256 – 27621Helical; Name=Segment S2; Potential
Topological domain277 – 29822Cytoplasmic Potential
Transmembrane299 – 31921Helical; Name=Segment S3; Potential
Topological domain320 – 3278Extracellular Potential
Transmembrane328 – 34821Helical; Voltage-sensor; Name=Segment S4; Potential
Topological domain349 – 3579Cytoplasmic Potential
Transmembrane358 – 37821Helical; Name=Segment S5; Potential
Topological domain379 – 41941Extracellular Potential
Intramembrane420 – 44021Pore-forming; Name=Segment H5; Potential
Topological domain441 – 4488Extracellular Potential
Transmembrane449 – 46921Helical; Name=Segment S6; Potential
Topological domain470 – 1107638Cytoplasmic Potential
Domain18 – 9073PAS
Domain93 – 14553PAC
Nucleotide binding551 – 668118cNMP
Motif434 – 4396Selectivity filter By similarity
Compositional bias711 – 72313Poly-Glu
Compositional bias951 – 1064114Ser-rich

Amino acid modifications

Glycosylation3201N-linked (GlcNAc...) Potential
Glycosylation4091N-linked (GlcNAc...) Potential

Natural variations

Natural variant8931Q → R. Ref.1
Corresponds to variant rs33915638 [ dbSNP | Ensembl ].
VAR_055098
Natural variant9841E → Q.
Corresponds to variant rs35160416 [ dbSNP | Ensembl ].
VAR_055099

Experimental info

Sequence conflict5251E → Q in BAD92290. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q96L42 [UniParc].

Last modified May 5, 2009. Version 2.
Checksum: F0E5DEC9A7877869

FASTA1,107123,804
        10         20         30         40         50         60 
MPVMKGLLAP QNTFLDTIAT RFDGTHSNFI LANAQVAKGF PIVYCSDGFC ELAGFARTEV 

        70         80         90        100        110        120 
MQKSCSCKFL FGVETNEQLM LQIEKSLEEK TEFKGEIMFY KKNGSPFWCL LDIVPIKNEK 

       130        140        150        160        170        180 
GDVVLFLASF KDITDTKVKI TPEDKKEDKV KGRSRAGTHF DSARRRSRAV LYHISGHLQR 

       190        200        210        220        230        240 
REKNKLKINN NVFVDKPAFP EYKVSDAKKS KFILLHFSTF KAGWDWLILL ATFYVAVTVP 

       250        260        270        280        290        300 
YNVCFIGNDD LSTTRSTTVS DIAVEILFII DIILNFRTTY VSKSGQVIFE ARSICIHYVT 

       310        320        330        340        350        360 
TWFIIDLIAA LPFDLLYAFN VTVVSLVHLL KTVRLLRLLR LLQKLDRYSQ HSTIVLTLLM 

       370        380        390        400        410        420 
SMFALLAHWM ACIWYVIGKM EREDNSLLKW EVGWLHELGK RLESPYYGNN TLGGPSIRSA 

       430        440        450        460        470        480 
YIAALYFTLS SLTSVGFGNV SANTDAEKIF SICTMLIGAL MHALVFGNVT AIIQRMYSRW 

       490        500        510        520        530        540 
SLYHTRTKDL KDFIRVHHLP QQLKQRMLEY FQTTWSVNNG IDSNELLKDF PDELRSDITM 

       550        560        570        580        590        600 
HLNKEILQLS LFECASRGCL RSLSLHIKTS FCAPGEYLLR QGDALQAIYF VCSGSMEVLK 

       610        620        630        640        650        660 
DSMVLAILGK GDLIGANLSI KDQVIKTNAD VKALTYCDLQ CIILKGLFEV LDLYPEYAHK 

       670        680        690        700        710        720 
FVEDIQHDLT YNLREGHESD VISRLSNKSM VSQSEPKGNG NINKRLPSIV EDEEEEEEGE 

       730        740        750        760        770        780 
EEEAVSLSPI CTRGSSSRNK KVGSNKAYLG LSLKQLASGT VPFHSPIRVS RSNSPKTKQE 

       790        800        810        820        830        840 
IDPPNHNKRK EKNLKLQLST LNNAGPPDLS PRIVDGIEDG NSSEESQTFD FGSERIRSEP 

       850        860        870        880        890        900 
RISPPLGDPE IGAAVLFIKA EETKQQINKL NSEVTTLTQE VSQLGKDMRN VIQLLENVLS 

       910        920        930        940        950        960 
PQQPSRFCSL HSTSVCPSRE SLQTRTSWSA HQPCLHLQTG GAAYTQAQLC SSNITSDIWS 

       970        980        990       1000       1010       1020 
VDPSSVGSSP QRTGAHEQNP ADSELYHSPS LDYSPSHYQV VQEGHLQFLR CISPHSDSTL 

      1030       1040       1050       1060       1070       1080 
TPLQSISATL SSSVCSSSET SLHLVLPSRS EEGSFSQGTV SSFSLENLPG SWNQEGMASA 

      1090       1100 
STKPLENLPL EVVTSTAEVK DNKAINV 

« Hide

References

« Hide 'large scale' references
[1]"A novel membrane potential-sensitive fluorescent dye improves cell-based assays for ion channels."
Baxter D.F., Kirk M., Garcia A.F., Raimondi A., Holmqvist M.H., Flint K.K., Bojanic D., DiStefano P.S., Curtis R., Xie Y.
J. Biomol. Screen. 7:79-85(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-893.
Tissue: Brain.
[2]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 525-1107.
Tissue: Brain.
[4]"Distribution and functional properties of human KCNH8 (Elk1) potassium channels."
Zou A., Lin Z., Humble M., Creech C.D., Wagoner P.K., Krafte D., Jegla T.J., Wickenden A.D.
Am. J. Physiol. 285:C1356-C1366(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY053503 mRNA. Translation: AAL15429.1.
AC015542 Genomic DNA. No translation available.
AC061958 Genomic DNA. No translation available.
AC099538 Genomic DNA. No translation available.
AC116098 Genomic DNA. No translation available.
AC135452 Genomic DNA. No translation available.
AC138315 Genomic DNA. No translation available.
AB209053 mRNA. Translation: BAD92290.1.
CCDSCCDS2632.1.
RefSeqNP_653234.2. NM_144633.2.
UniGeneHs.475656.

3D structure databases

ProteinModelPortalQ96L42.
SMRQ96L42. Positions 11-165, 420-475, 481-675.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000328813.

Chemistry

ChEMBLCHEMBL2362996.
GuidetoPHARMACOLOGY575.

PTM databases

PhosphoSiteQ96L42.

Polymorphism databases

DMDM229462927.

Proteomic databases

PaxDbQ96L42.
PRIDEQ96L42.

Protocols and materials databases

DNASU131096.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000328405; ENSP00000328813; ENSG00000183960.
GeneID131096.
KEGGhsa:131096.
UCSCuc003cbk.1. human.

Organism-specific databases

CTD131096.
GeneCardsGC03P019165.
H-InvDBHIX0030767.
HGNCHGNC:18864. KCNH8.
HPAHPA016586.
MIM608260. gene.
neXtProtNX_Q96L42.
PharmGKBPA38724.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2202.
HOGENOMHOG000230794.
HOVERGENHBG052232.
InParanoidQ96L42.
KOK04911.
OMANGSSFWC.
OrthoDBEOG7QG43V.
PhylomeDBQ96L42.
TreeFamTF313130.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

ArrayExpressQ96L42.
BgeeQ96L42.
CleanExHS_KCNH8.
GenevestigatorQ96L42.

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.
IPR003950. K_chnl_volt-dep_ELK.
IPR001610. PAC.
IPR000014. PAS.
IPR000700. PAS-assoc_C.
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.
PR01465. ELKCHANNEL.
SMARTSM00100. cNMP. 1 hit.
SM00086. PAC. 1 hit.
[Graphical view]
SUPFAMSSF51206. SSF51206. 1 hit.
SSF55785. SSF55785. 1 hit.
TIGRFAMsTIGR00229. sensory_box. 1 hit.
PROSITEPS50042. CNMP_BINDING_3. 1 hit.
PS50113. PAC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKCNH8.
GenomeRNAi131096.
NextBio82870.
PROQ96L42.
SOURCESearch...

Entry information

Entry nameKCNH8_HUMAN
AccessionPrimary (citable) accession number: Q96L42
Secondary accession number(s): Q59GQ6
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: May 5, 2009
Last modified: July 9, 2014
This is version 123 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 3

Human chromosome 3: entries, gene names and cross-references to MIM