UniProtKB - Q8NCM2 (KCNH5_HUMAN)
Protein
Potassium voltage-gated channel subfamily H member 5
Gene
KCNH5
Organism
Homo sapiens (Human)
Status
Functioni
Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a non-inactivating outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 550 – 667 | cNMPAdd BLAST | 118 |
GO - Molecular functioni
- calmodulin binding Source: UniProtKB-KW
- ion channel binding Source: Ensembl
- protein-containing complex binding Source: Ensembl
- voltage-gated potassium channel activity Source: GO_Central
GO - Biological processi
- potassium ion transmembrane transport Source: GO_Central
- regulation of G2/M transition of mitotic cell cycle Source: MGI
- regulation of ion transmembrane transport Source: UniProtKB-KW
- regulation of membrane potential Source: GO_Central
Keywordsi
Molecular function | Calmodulin-binding, Ion channel, Potassium channel, Voltage-gated channel |
Biological process | Ion transport, Potassium transport, Transport |
Ligand | Potassium |
Enzyme and pathway databases
PathwayCommonsi | Q8NCM2 |
Reactomei | R-HSA-1296072, Voltage gated Potassium channels |
Protein family/group databases
TCDBi | 1.A.1.20.9, the voltage-gated ion channel (vic) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: Potassium voltage-gated channel subfamily H member 5Alternative name(s): Ether-a-go-go potassium channel 2 Short name: hEAG2 Voltage-gated potassium channel subunit Kv10.2 |
Gene namesi | Name:KCNH5 Synonyms:EAG2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000140015.19 |
HGNCi | HGNC:6254, KCNH5 |
MIMi | 605716, gene |
neXtProti | NX_Q8NCM2 |
Subcellular locationi
Other locations
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: Reactome
Other locations
- cell surface Source: MGI
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 217 | CytoplasmicSequence analysisAdd BLAST | 217 | |
Transmembranei | 218 – 238 | Helical; Name=Segment S1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 239 – 243 | ExtracellularSequence analysis | 5 | |
Transmembranei | 244 – 264 | Helical; Name=Segment S2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 265 – 291 | CytoplasmicSequence analysisAdd BLAST | 27 | |
Transmembranei | 292 – 312 | Helical; Name=Segment S3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 313 – 319 | ExtracellularSequence analysis | 7 | |
Transmembranei | 320 – 340 | Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST | 21 | |
Topological domaini | 341 – 346 | CytoplasmicSequence analysis | 6 | |
Transmembranei | 347 – 367 | Helical; Name=Segment S5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 368 – 419 | ExtracellularSequence analysisAdd BLAST | 52 | |
Intramembranei | 420 – 440 | Pore-forming; Name=Segment H5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 441 – 446 | ExtracellularSequence analysis | 6 | |
Transmembranei | 447 – 467 | Helical; Name=Segment S6Sequence analysisAdd BLAST | 21 | |
Topological domaini | 468 – 988 | CytoplasmicSequence analysisAdd BLAST | 521 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 27133 |
MalaCardsi | KCNH5 |
OpenTargetsi | ENSG00000140015 |
PharmGKBi | PA30040 |
Miscellaneous databases
Pharosi | Q8NCM2, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2362996 |
DrugBanki | DB00228, Enflurane DB01110, Miconazole DB01069, Promethazine |
DrugCentrali | Q8NCM2 |
GuidetoPHARMACOLOGYi | 571 |
Polymorphism and mutation databases
BioMutai | KCNH5 |
DMDMi | 334302891 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000054010 | 1 – 988 | Potassium voltage-gated channel subfamily H member 5Add BLAST | 988 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 403 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Cross-linki | 785 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication | ||
Modified residuei | 883 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
PaxDbi | Q8NCM2 |
PeptideAtlasi | Q8NCM2 |
PRIDEi | Q8NCM2 |
ProteomicsDBi | 72906 [Q8NCM2-1] 72907 [Q8NCM2-2] 72908 [Q8NCM2-3] |
PTM databases
GlyGeni | Q8NCM2, 1 site |
iPTMneti | Q8NCM2 |
PhosphoSitePlusi | Q8NCM2 |
Expressioni
Tissue specificityi
Detected in brain, skeletal muscle, heart, placenta, lung and liver, and at low levels in kidney.
Gene expression databases
Bgeei | ENSG00000140015, Expressed in buccal mucosa cell and 71 other tissues |
Genevisiblei | Q8NCM2, HS |
Organism-specific databases
HPAi | ENSG00000140015, Tissue enhanced (adrenal gland, brain, retina) |
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 KCNH1/EAG (Probable).
CuratedGO - Molecular functioni
- calmodulin binding Source: UniProtKB-KW
- ion channel binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 118024, 6 interactors |
IntActi | Q8NCM2, 1 interactor |
STRINGi | 9606.ENSP00000321427 |
Miscellaneous databases
RNActi | Q8NCM2, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 12 – 90 | PASAdd BLAST | 79 | |
Domaini | 91 – 143 | PACPROSITE-ProRule annotationAdd BLAST | 53 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 704 – 715 | Calmodulin-bindingSequence analysisAdd BLAST | 12 | |
Regioni | 909 – 948 | CAD (involved in subunit assembly)By similarityAdd BLAST | 40 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 432 – 437 | Selectivity filterBy similarity | 6 |
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
Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.2/KCNH5 sub-subfamily. [View classification]Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0501, Eukaryota |
GeneTreei | ENSGT00940000156540 |
HOGENOMi | CLU_005746_3_1_1 |
InParanoidi | Q8NCM2 |
OMAi | CQFKDIT |
OrthoDBi | 464006at2759 |
PhylomeDBi | Q8NCM2 |
TreeFami | TF313130 |
Family and domain databases
CDDi | cd00038, CAP_ED, 1 hit cd00130, PAS, 1 hit |
Gene3Di | 1.20.120.350, 1 hit 2.60.120.10, 1 hit |
InterProi | View protein in InterPro IPR018490, cNMP-bd-like IPR000595, cNMP-bd_dom IPR030171, EAG2 IPR005821, Ion_trans_dom IPR003949, K_chnl_volt-dep_EAG IPR003938, K_chnl_volt-dep_EAG/ELK/ERG IPR001610, PAC IPR000014, PAS IPR000700, PAS-assoc_C IPR035965, PAS-like_dom_sf IPR014710, RmlC-like_jellyroll IPR027359, Volt_channel_dom_sf |
PANTHERi | PTHR10217:SF533, PTHR10217:SF533, 1 hit |
Pfami | View protein in Pfam PF00027, cNMP_binding, 1 hit PF00520, Ion_trans, 1 hit PF13426, PAS_9, 1 hit |
PRINTSi | PR01463, EAGCHANLFMLY PR01464, EAGCHANNEL |
SMARTi | View protein in SMART SM00100, cNMP, 1 hit SM00086, PAC, 1 hit |
SUPFAMi | SSF51206, SSF51206, 1 hit SSF55785, SSF55785, 1 hit |
TIGRFAMsi | TIGR00229, sensory_box, 1 hit |
PROSITEi | View protein in PROSITE PS50042, CNMP_BINDING_3, 1 hit PS50113, PAC, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketNote: Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: Q8NCM2-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPGGKRGLVA PQNTFLENIV RRSSESSFLL GNAQIVDWPV VYSNDGFCKL
60 70 80 90 100
SGYHRADVMQ KSSTCSFMYG ELTDKKTIEK VRQTFDNYES NCFEVLLYKK
110 120 130 140 150
NRTPVWFYMQ IAPIRNEHEK VVLFLCTFKD ITLFKQPIED DSTKGWTKFA
160 170 180 190 200
RLTRALTNSR SVLQQLTPMN KTEVVHKHSR LAEVLQLGSD ILPQYKQEAP
210 220 230 240 250
KTPPHIILHY CAFKTTWDWV ILILTFYTAI MVPYNVSFKT KQNNIAWLVL
260 270 280 290 300
DSVVDVIFLV DIVLNFHTTF VGPGGEVISD PKLIRMNYLK TWFVIDLLSC
310 320 330 340 350
LPYDIINAFE NVDEGISSLF SSLKVVRLLR LGRVARKLDH YLEYGAAVLV
360 370 380 390 400
LLVCVFGLVA HWLACIWYSI GDYEVIDEVT NTIQIDSWLY QLALSIGTPY
410 420 430 440 450
RYNTSAGIWE GGPSKDSLYV SSLYFTMTSL TTIGFGNIAP TTDVEKMFSV
460 470 480 490 500
AMMMVGSLLY ATIFGNVTTI FQQMYANTNR YHEMLNNVRD FLKLYQVPKG
510 520 530 540 550
LSERVMDYIV STWSMSKGID TEKVLSICPK DMRADICVHL NRKVFNEHPA
560 570 580 590 600
FRLASDGCLR ALAVEFQTIH CAPGDLIYHA GESVDALCFV VSGSLEVIQD
610 620 630 640 650
DEVVAILGKG DVFGDIFWKE TTLAHACANV RALTYCDLHI IKREALLKVL
660 670 680 690 700
DFYTAFANSF SRNLTLTCNL RKRIIFRKIS DVKKEEEERL RQKNEVTLSI
710 720 730 740 750
PVDHPVRKLF QKFKQQKELR NQGSTQGDPE RNQLQVESRS LQNGASITGT
760 770 780 790 800
SVVTVSQITP IQTSLAYVKT SESLKQNNRD AMELKPNGGA DQKCLKVNSP
810 820 830 840 850
IRMKNGNGKG WLRLKNNMGA HEEKKEDWNN VTKAESMGLL SEDPKSSDSE
860 870 880 890 900
NSVTKNPLRK TDSCDSGITK SDLRLDKAGE ARSPLEHSPI QADAKHPFYP
910 920 930 940 950
IPEQALQTTL QEVKHELKED IQLLSCRMTA LEKQVAEILK ILSEKSVPQA
960 970 980
SSPKSQMPLQ VPPQIPCQDI FSVSRPESPE SDKDEIHF
Sequence cautioni
The sequence BAC11016 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077834 | 327 | R → H Found in a child with sporadic epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587777164EnsemblClinVar. | 1 | |
Natural variantiVAR_065162 | 745 | A → T3 PublicationsCorresponds to variant dbSNP:rs4902176Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000972 | 1 – 58 | Missing in isoform 3. 1 PublicationAdd BLAST | 58 | |
Alternative sequenceiVSP_000973 | 608 – 611 | GKGD → DHLS in isoform 2. 1 Publication | 4 | |
Alternative sequenceiVSP_000974 | 612 – 988 | Missing in isoform 2. 1 PublicationAdd BLAST | 377 | |
Alternative sequenceiVSP_000975 | 674 – 682 | IIFRKISDV → GWFSMANAL in isoform 3. 1 Publication | 9 | |
Alternative sequenceiVSP_000976 | 683 – 988 | Missing in isoform 3. 1 PublicationAdd BLAST | 306 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF418206 mRNA Translation: AAM28435.1 AF472412 mRNA Translation: AAM49565.1 AF493798 mRNA Translation: AAM49574.1 AK074484 mRNA Translation: BAC11016.1 Sequence problems. AL109985 Genomic DNA No translation available. AL132666 Genomic DNA No translation available. AL137191 Genomic DNA No translation available. AL355101 Genomic DNA No translation available. CH471061 Genomic DNA Translation: EAW80819.1 BC073979 mRNA Translation: AAH73979.1 |
CCDSi | CCDS45122.1 [Q8NCM2-2] CCDS9756.1 [Q8NCM2-1] |
RefSeqi | NP_647479.2, NM_139318.4 [Q8NCM2-1] NP_758963.1, NM_172375.2 [Q8NCM2-2] |
Genome annotation databases
Ensembli | ENST00000322893; ENSP00000321427; ENSG00000140015 [Q8NCM2-1] ENST00000394968; ENSP00000378419; ENSG00000140015 [Q8NCM2-3] ENST00000420622; ENSP00000395439; ENSG00000140015 [Q8NCM2-2] |
GeneIDi | 27133 |
KEGGi | hsa:27133 |
UCSCi | uc001xfx.5, human [Q8NCM2-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF418206 mRNA Translation: AAM28435.1 AF472412 mRNA Translation: AAM49565.1 AF493798 mRNA Translation: AAM49574.1 AK074484 mRNA Translation: BAC11016.1 Sequence problems. AL109985 Genomic DNA No translation available. AL132666 Genomic DNA No translation available. AL137191 Genomic DNA No translation available. AL355101 Genomic DNA No translation available. CH471061 Genomic DNA Translation: EAW80819.1 BC073979 mRNA Translation: AAH73979.1 |
CCDSi | CCDS45122.1 [Q8NCM2-2] CCDS9756.1 [Q8NCM2-1] |
RefSeqi | NP_647479.2, NM_139318.4 [Q8NCM2-1] NP_758963.1, NM_172375.2 [Q8NCM2-2] |
3D structure databases
SMRi | Q8NCM2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 118024, 6 interactors |
IntActi | Q8NCM2, 1 interactor |
STRINGi | 9606.ENSP00000321427 |
Chemistry databases
ChEMBLi | CHEMBL2362996 |
DrugBanki | DB00228, Enflurane DB01110, Miconazole DB01069, Promethazine |
DrugCentrali | Q8NCM2 |
GuidetoPHARMACOLOGYi | 571 |
Protein family/group databases
TCDBi | 1.A.1.20.9, the voltage-gated ion channel (vic) superfamily |
PTM databases
GlyGeni | Q8NCM2, 1 site |
iPTMneti | Q8NCM2 |
PhosphoSitePlusi | Q8NCM2 |
Polymorphism and mutation databases
BioMutai | KCNH5 |
DMDMi | 334302891 |
Proteomic databases
PaxDbi | Q8NCM2 |
PeptideAtlasi | Q8NCM2 |
PRIDEi | Q8NCM2 |
ProteomicsDBi | 72906 [Q8NCM2-1] 72907 [Q8NCM2-2] 72908 [Q8NCM2-3] |
Protocols and materials databases
Antibodypediai | 11594, 58 antibodies |
Genome annotation databases
Ensembli | ENST00000322893; ENSP00000321427; ENSG00000140015 [Q8NCM2-1] ENST00000394968; ENSP00000378419; ENSG00000140015 [Q8NCM2-3] ENST00000420622; ENSP00000395439; ENSG00000140015 [Q8NCM2-2] |
GeneIDi | 27133 |
KEGGi | hsa:27133 |
UCSCi | uc001xfx.5, human [Q8NCM2-1] |
Organism-specific databases
CTDi | 27133 |
DisGeNETi | 27133 |
EuPathDBi | HostDB:ENSG00000140015.19 |
GeneCardsi | KCNH5 |
HGNCi | HGNC:6254, KCNH5 |
HPAi | ENSG00000140015, Tissue enhanced (adrenal gland, brain, retina) |
MalaCardsi | KCNH5 |
MIMi | 605716, gene |
neXtProti | NX_Q8NCM2 |
OpenTargetsi | ENSG00000140015 |
PharmGKBi | PA30040 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0501, Eukaryota |
GeneTreei | ENSGT00940000156540 |
HOGENOMi | CLU_005746_3_1_1 |
InParanoidi | Q8NCM2 |
OMAi | CQFKDIT |
OrthoDBi | 464006at2759 |
PhylomeDBi | Q8NCM2 |
TreeFami | TF313130 |
Enzyme and pathway databases
PathwayCommonsi | Q8NCM2 |
Reactomei | R-HSA-1296072, Voltage gated Potassium channels |
Miscellaneous databases
BioGRID-ORCSi | 27133, 16 hits in 847 CRISPR screens |
ChiTaRSi | KCNH5, human |
GeneWikii | KCNH5 |
GenomeRNAii | 27133 |
Pharosi | Q8NCM2, Tclin |
PROi | PR:Q8NCM2 |
RNActi | Q8NCM2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000140015, Expressed in buccal mucosa cell and 71 other tissues |
Genevisiblei | Q8NCM2, HS |
Family and domain databases
CDDi | cd00038, CAP_ED, 1 hit cd00130, PAS, 1 hit |
Gene3Di | 1.20.120.350, 1 hit 2.60.120.10, 1 hit |
InterProi | View protein in InterPro IPR018490, cNMP-bd-like IPR000595, cNMP-bd_dom IPR030171, EAG2 IPR005821, Ion_trans_dom IPR003949, K_chnl_volt-dep_EAG IPR003938, K_chnl_volt-dep_EAG/ELK/ERG IPR001610, PAC IPR000014, PAS IPR000700, PAS-assoc_C IPR035965, PAS-like_dom_sf IPR014710, RmlC-like_jellyroll IPR027359, Volt_channel_dom_sf |
PANTHERi | PTHR10217:SF533, PTHR10217:SF533, 1 hit |
Pfami | View protein in Pfam PF00027, cNMP_binding, 1 hit PF00520, Ion_trans, 1 hit PF13426, PAS_9, 1 hit |
PRINTSi | PR01463, EAGCHANLFMLY PR01464, EAGCHANNEL |
SMARTi | View protein in SMART SM00100, cNMP, 1 hit SM00086, PAC, 1 hit |
SUPFAMi | SSF51206, SSF51206, 1 hit SSF55785, SSF55785, 1 hit |
TIGRFAMsi | TIGR00229, sensory_box, 1 hit |
PROSITEi | View protein in PROSITE PS50042, CNMP_BINDING_3, 1 hit PS50113, PAC, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KCNH5_HUMAN | |
Accessioni | Q8NCM2Primary (citable) accession number: Q8NCM2 Secondary accession number(s): C9JP98 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 28, 2002 |
Last sequence update: | May 31, 2011 | |
Last modified: | December 2, 2020 | |
This is version 173 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations