Q96L42 (KCNH8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1107 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Ion transport Potassium transport Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Potassium
Molecular function	Ion channel Potassium channel Voltage-gated channel
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: InterPro signal transduction by phosphorylation Inferred from electronic annotation. Source: GOC synaptic transmission Traceable author statement. Source: Reactome
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Traceable author statement. Source: Reactome
Molecular_function	phosphorelay sensor kinase activity Inferred from electronic annotation. Source: InterPro voltage-gated potassium channel activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1107	1107	Potassium voltage-gated channel subfamily H member 8		PRO_0000054018
Regions
	Topological domain	1 – 225	225	Cytoplasmic Potential
	Transmembrane	226 – 246	21	Helical; Name=Segment S1; Potential
	Topological domain	247 – 255	9	Extracellular Potential
	Transmembrane	256 – 276	21	Helical; Name=Segment S2; Potential
	Topological domain	277 – 298	22	Cytoplasmic Potential
	Transmembrane	299 – 319	21	Helical; Name=Segment S3; Potential
	Topological domain	320 – 327	8	Extracellular Potential
	Transmembrane	328 – 348	21	Helical; Voltage-sensor; Name=Segment S4; Potential
	Topological domain	349 – 357	9	Cytoplasmic Potential
	Transmembrane	358 – 378	21	Helical; Name=Segment S5; Potential
	Topological domain	379 – 419	41	Extracellular Potential
	Intramembrane	420 – 440	21	Pore-forming; Name=Segment H5; Potential
	Topological domain	441 – 448	8	Extracellular Potential
	Transmembrane	449 – 469	21	Helical; Name=Segment S6; Potential
	Topological domain	470 – 1107	638	Cytoplasmic Potential
	Domain	18 – 90	73	PAS
	Domain	93 – 145	53	PAC
	Nucleotide binding	551 – 668	118	cNMP
	Motif	434 – 439	6	Selectivity filter By similarity
	Compositional bias	711 – 723	13	Poly-Glu
	Compositional bias	951 – 1064	114	Ser-rich
Amino acid modifications
	Glycosylation	320	1	N-linked (GlcNAc...) Potential
	Glycosylation	409	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	893	1	Q → R. Ref.1 Corresponds to variant rs33915638 [ dbSNP | Ensembl ].		VAR_055098
	Natural variant	984	1	E → Q. Corresponds to variant rs35160416 [ dbSNP | Ensembl ].		VAR_055099
Experimental info
	Sequence conflict	525	1	E → Q in BAD92290. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q96L42 [UniParc]. Last modified May 5, 2009. Version 2. Checksum: F0E5DEC9A7877869	FASTA	1,107	123,804
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00306984.
RefSeq	NP_653234.2. NM_144633.2.
UniGene	Hs.475656.
3D structure databases
ProteinModelPortal	Q96L42.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000328813.
PTM databases
PhosphoSite	Q96L42.
Polymorphism databases
DMDM	229462927.
Proteomic databases
PaxDb	Q96L42.
PRIDE	Q96L42.
Protocols and materials databases
DNASU	131096.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000328405; ENSP00000328813; ENSG00000183960.
GeneID	131096.
KEGG	hsa:131096.
UCSC	uc003cbk.1. human.
Organism-specific databases
CTD	131096.
GeneCards	GC03P019165.
H-InvDB	HIX0030767.
HGNC	HGNC:18864. KCNH8.
HPA	HPA016586.
MIM	608260. gene.
neXtProt	NX_Q96L42.
PharmGKB	PA38724.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2202.
HOGENOM	HOG000230794.
HOVERGEN	HBG052232.
InParanoid	Q96L42.
KO	K04911.
OMA	HSTSVCP.
OrthoDB	EOG47WNN0.
PhylomeDB	Q96L42.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System.
Gene expression databases
ArrayExpress	Q96L42.
Bgee	Q96L42.
CleanEx	HS_KCNH8.
Genevestigator	Q96L42.
GermOnline	ENSG00000183960. Homo sapiens.
Family and domain databases
Gene3D	2.60.120.10. 1 hit.
InterPro	IPR018490. 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]
Pfam	PF00027. cNMP_binding. 1 hit. PF00520. Ion_trans. 1 hit. [Graphical view]
PRINTS	PR01463. EAGCHANLFMLY. PR01465. ELKCHANNEL.
SMART	SM00100. cNMP. 1 hit. SM00086. PAC. 1 hit. [Graphical view]
SUPFAM	SSF51206. cNMP_binding. 1 hit.
TIGRFAMs	TIGR00229. sensory_box. 1 hit.
PROSITE	PS00888. CNMP_BINDING_1. False negative. PS00889. CNMP_BINDING_2. False negative. PS50042. CNMP_BINDING_3. 1 hit. PS50113. PAC. 1 hit. PS50112. PAS. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	131096.
NextBio	82870.
SOURCE	Search...

Entry information

Entry name

KCNH8_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 110 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.