Q9ULD8 (KCNH3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Potassium voltage-gated channel subfamily H member 3

Alternative name(s):
Brain-specific eag-like channel 1
Short name=BEC1
Ether-a-go-go-like potassium channel 2
Short name=ELK channel 2
Short name=ELK2
Voltage-gated potassium channel subunit Kv12.2

Gene names

Name:	KCNH3
Synonyms:	KIAA1282

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	1083 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current with fast inactivation. 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	Detected only in brain, in particular in the telencephalon. Detected in the cerebral cortex, occipital pole, frontal and temporal lobe, putamen, amygdala, hippocampus and caudate nucleus.
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. Kv12.2/KCNH3 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 BAA86596.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Ion transport Potassium transport Transport
Cellular component	Membrane
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 Non-traceable author statement Ref.1. Source: UniProtKB plasma membrane Traceable author statement. Source: Reactome
Molecular_function	phosphorelay sensor kinase activity Inferred from electronic annotation. Source: InterPro voltage-gated potassium channel activity Traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1083	1083	Potassium voltage-gated channel subfamily H member 3		PRO_0000054005
Regions
	Topological domain	1 – 228	228	Cytoplasmic Potential
	Transmembrane	229 – 249	21	Helical; Name=Segment S1; Potential
	Topological domain	250 – 259	10	Extracellular Potential
	Transmembrane	260 – 280	21	Helical; Name=Segment S2; Potential
	Topological domain	281 – 302	22	Cytoplasmic Potential
	Transmembrane	303 – 323	21	Helical; Name=Segment S3; Potential
	Topological domain	324 – 331	8	Extracellular Potential
	Transmembrane	332 – 352	21	Helical; Voltage-sensor; Name=Segment S4; Potential
	Topological domain	353 – 361	9	Cytoplasmic Potential
	Transmembrane	362 – 382	21	Helical; Name=Segment S5; Potential
	Topological domain	383 – 453	71	Extracellular Potential
	Intramembrane	454 – 474	21	Pore-forming; Name=Segment H5; Potential
	Topological domain	475 – 479	5	Extracellular Potential
	Transmembrane	480 – 500	21	Helical; Name=Segment S6; Potential
	Topological domain	501 – 1083	583	Cytoplasmic Potential
	Domain	18 – 90	73	PAS
	Domain	93 – 145	53	PAC
	Nucleotide binding	582 – 697	116	cNMP
	Motif	465 – 470	6	Selectivity filter By similarity
	Compositional bias	951 – 1057	107	Pro-rich
Amino acid modifications
	Glycosylation	421	1	N-linked (GlcNAc...) Potential
	Glycosylation	428	1	N-linked (GlcNAc...) Potential
	Glycosylation	436	1	N-linked (GlcNAc...) Potential

Sequences

	Sequence		Length	Mass (Da)
	Q9ULD8 [UniParc]. Last modified November 28, 2002. Version 2. Checksum: EF35C8968D7418CC	FASTA	1,083	117,129
	10 20 30 40 50 60 MPAMRGLLAP QNTFLDTIAT RFDGTHSNFV LGNAQVAGLF PVVYCSDGFC DLTGFSRAEV 70 80 90 100 110 120 MQRGCACSFL YGPDTSELVR QQIRKALDEH KEFKAELILY RKSGLPFWCL LDVIPIKNEK 130 140 150 160 170 180 GEVALFLVSH KDISETKNRG GPDRWKETGG GRRRYGRARS KGFNANRRRS RAVLYHLSGH 190 200 210 220 230 240 LQKQPKGKHK LNKGVFGEKP NLPEYKVAAI RKSPFILLHC GALRATWDGF ILLATLYVAV 250 260 270 280 290 300 TVPYSVCVST AREPSAARGP PSVCDLAVEV LFILDIVLNF RTTFVSKSGQ VVFAPKSICL 310 320 330 340 350 360 HYVTTWFLLD VIAALPFDLL HAFKVNVYFG AHLLKTVRLL RLLRLLPRLD RYSQYSAVVL 370 380 390 400 410 420 TLLMAVFALL AHWVACVWFY IGQREIESSE SELPEIGWLQ ELARRLETPY YLVGRRPAGG 430 440 450 460 470 480 NSSGQSDNCS SSSEANGTGL ELLGGPSLRS AYITSLYFAL SSLTSVGFGN VSANTDTEKI 490 500 510 520 530 540 FSICTMLIGA LMHAVVFGNV TAIIQRMYAR RFLYHSRTRD LRDYIRIHRI PKPLKQRMLE 550 560 570 580 590 600 YFQATWAVNN GIDTTELLQS LPDELRADIA MHLHKEVLQL PLFEAASRGC LRALSLALRP 610 620 630 640 650 660 AFCTPGEYLI HQGDALQALY FVCSGSMEVL KGGTVLAILG KGDLIGCELP RREQVVKANA 670 680 690 700 710 720 DVKGLTYCVL QCLQLAGLHD SLALYPEFAP RFSRGLRGEL SYNLGAGGGS AEVDTSSLSG 730 740 750 760 770 780 DNTLMSTLEE KETDGEQGPT VSPAPADEPS SPLLSPGCTS SSSAAKLLSP RRTAPRPRLG 790 800 810 820 830 840 GRGRPGRAGA LKAEAGPSAP PRALEGLRLP PMPWNVPPDL SPRVVDGIED GCGSDQPKFS 850 860 870 880 890 900 FRVGQSGPEC SSSPSPGPES GLLTVPHGPS EARNTDTLDK LRQAVTELSE QVLQMREGLQ 910 920 930 940 950 960 SLRQAVQLVL APHREGPCPR ASGEGPCPAS TSGLLQPLCV DTGASSYCLQ PPAGSVLSGT 970 980 990 1000 1010 1020 WPHPRPGPPP LMAPWPWGPP ASQSSPWPRA TAFWTSTSDS EPPASGDLCS EPSTPASPPP 1030 1040 1050 1060 1070 1080 SEEGARTGPA EPVSQAEATS TGEPPPGSGG LALPWDPHSL EMVLIGCHGS GTVQWTQEEG TGV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"New ether-a-go-go K+ channel family members localized in human telencephalon." Miyake A., Mochizuki S., Yokoi H., Kohda M., Furuichi K. J. Biol. Chem. 274:25018-25025(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[2]	"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O. DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB022696 mRNA. Translation: BAA83590.1. AB033108 mRNA. Translation: BAA86596.1. Different initiation.
IPI	IPI00329502.
RefSeq	NP_036416.1. NM_012284.1.
UniGene	Hs.64064.
3D structure databases
ProteinModelPortal	Q9ULD8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000257981.
PTM databases
PhosphoSite	Q9ULD8.
Polymorphism databases
DMDM	26006814.
Proteomic databases
PaxDb	Q9ULD8.
PRIDE	Q9ULD8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000257981; ENSP00000257981; ENSG00000135519.
GeneID	23416.
KEGG	hsa:23416.
UCSC	uc001ruh.1. human.
Organism-specific databases
CTD	23416.
GeneCards	GC12P049933.
HGNC	HGNC:6252. KCNH3.
HPA	HPA051088.
MIM	604527. gene.
neXtProt	NX_Q9ULD8.
PharmGKB	PA30038.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2202.
HOGENOM	HOG000230794.
HOVERGEN	HBG052232.
InParanoid	Q9ULD8.
KO	K04906.
OMA	PLMAPWP.
OrthoDB	EOG4255S1.
PhylomeDB	Q9ULD8.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System.
Gene expression databases
ArrayExpress	Q9ULD8.
Bgee	Q9ULD8.
CleanEx	HS_KCNH3.
Genevestigator	Q9ULD8.
GermOnline	ENSG00000135519. 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. SM00091. PAS. 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. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	23416.
NextBio	45623.
SOURCE	Search...

Entry information

Entry name

KCNH3_HUMAN

Accession

Primary (citable) accession number: Q9ULD8
Secondary accession number(s): Q9UQ06

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 28, 2002
Last sequence update:	November 28, 2002
Last modified:	May 1, 2013
This is version 116 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.