Q8NCM2 (KCNH5_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 112.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Potassium voltage-gated channel subfamily H member 5 Alternative name(s): Ether-a-go-go potassium channel 2 Short name=hEAG2 Voltage-gated potassium channel subunit Kv10.2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 988 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. |
| 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 KCNH1/EAG Probable. |
| Subcellular location | |
| Tissue specificity | Detected in brain, skeletal muscle, heart, placenta, lung and liver, and at low levels in kidney. |
| 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. Kv10.2/KCNH5 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 BAC11016.1 differs from that shown. Reason: Erroneous termination at position 436. Translated as Gly. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] Note: Experimental confirmation may be lacking for some isoforms. | ||||||
| Isoform 1 (identifier: Q8NCM2-1) 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 2 (identifier: Q8NCM2-2) Also known as: 2b; The sequence of this isoform differs from the canonical sequence as follows: 608-611: GKGD → DHLS 612-988: Missing. | ||||||
| Isoform 3 (identifier: Q8NCM2-3) The sequence of this isoform differs from the canonical sequence as follows: 1-58: Missing. 674-682: IIFRKISDV → GWFSMANAL 683-988: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 988 | 988 | Potassium voltage-gated channel subfamily H member 5 | PRO_0000054010 | |||||
Regions | |||||||||
| Topological domain | 1 – 217 | 217 | Cytoplasmic Potential | ||||||
| Transmembrane | 218 – 238 | 21 | Helical; Name=Segment S1; Potential | ||||||
| Topological domain | 239 – 243 | 5 | Extracellular Potential | ||||||
| Transmembrane | 244 – 264 | 21 | Helical; Name=Segment S2; Potential | ||||||
| Topological domain | 265 – 291 | 27 | Cytoplasmic Potential | ||||||
| Transmembrane | 292 – 312 | 21 | Helical; Name=Segment S3; Potential | ||||||
| Topological domain | 313 – 319 | 7 | Extracellular Potential | ||||||
| Transmembrane | 320 – 340 | 21 | Helical; Voltage-sensor; Name=Segment S4; Potential | ||||||
| Topological domain | 341 – 346 | 6 | Cytoplasmic Potential | ||||||
| Transmembrane | 347 – 367 | 21 | Helical; Name=Segment S5; Potential | ||||||
| Topological domain | 368 – 419 | 52 | Extracellular Potential | ||||||
| Intramembrane | 420 – 440 | 21 | Pore-forming; Name=Segment H5; Potential | ||||||
| Topological domain | 441 – 446 | 6 | Extracellular Potential | ||||||
| Transmembrane | 447 – 467 | 21 | Helical; Name=Segment S6; Potential | ||||||
| Topological domain | 468 – 988 | 521 | Cytoplasmic Potential | ||||||
| Domain | 12 – 90 | 79 | PAS | ||||||
| Domain | 91 – 143 | 53 | PAC | ||||||
| Nucleotide binding | 550 – 667 | 118 | cNMP | ||||||
| Region | 704 – 715 | 12 | Calmodulin-binding Potential | ||||||
| Region | 909 – 948 | 40 | CAD (involved in subunit assembly) By similarity | ||||||
| Motif | 432 – 437 | 6 | Selectivity filter By similarity | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 403 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Cross-link | 785 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.7 | |||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 58 | 58 | Missing in isoform 3. | VSP_000972 | |||||
| Alternative sequence | 608 – 611 | 4 | GKGD → DHLS in isoform 2. | VSP_000973 | |||||
| Alternative sequence | 612 – 988 | 377 | Missing in isoform 2. | VSP_000974 | |||||
| Alternative sequence | 674 – 682 | 9 | IIFRKISDV → GWFSMANAL in isoform 3. | VSP_000975 | |||||
| Alternative sequence | 683 – 988 | 306 | Missing in isoform 3. | VSP_000976 | |||||
| Natural variant | 745 | 1 | A → T. Ref.1 Ref.2 Ref.6 Corresponds to variant rs4902176 [ dbSNP | Ensembl ]. | VAR_065162 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-745. Tissue: Brain. |
| [2] | "Molecular identification and characterisation of the human eag2 potassium channel." Ju M., Wray D. FEBS Lett. 524:204-210(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT THR-745. Tissue: Fetal brain. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). |
| [4] | "The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. Weissenbach J.Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-745. Tissue: PNS. |
| [7] | "Proteomic analysis of ubiquitinated proteins in normal hepatocyte cell line Chang liver cells." Tan F., Lu L., Cai Y., Wang J., Xie Y., Wang L., Gong Y., Xu B.-E., Wu J., Luo Y., Qiang B., Yuan J., Sun X., Peng X. Proteomics 8:2885-2896(2008) [PubMed] [Europe PMC] [Abstract] Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-785, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00171491. IPI00220699. IPI00220700. |
| RefSeq | NP_647479.2. NM_139318.3. NP_758963.1. NM_172375.1. NP_758964.1. NM_172376.1. |
| UniGene | Hs.27043. |
3D structure databases | |
| ProteinModelPortal | Q8NCM2. |
| SMR | Q8NCM2. Positions 5-129, 418-472, 481-676. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000321427. |
PTM databases | |
| PhosphoSite | Q8NCM2. |
Polymorphism databases | |
| DMDM | 26006802. |
Proteomic databases | |
| PaxDb | Q8NCM2. |
| PRIDE | Q8NCM2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000322893; ENSP00000321427; ENSG00000140015. ENST00000394968; ENSP00000378419; ENSG00000140015. ENST00000420622; ENSP00000395439; ENSG00000140015. |
| GeneID | 27133. |
| KEGG | hsa:27133. |
| UCSC | uc001xfx.3. human. uc001xfy.3. human. uc001xfz.1. human. |
Organism-specific databases | |
| CTD | 27133. |
| GeneCards | GC14M063173. |
| HGNC | HGNC:6254. KCNH5. |
| HPA | HPA030487. |
| MIM | 605716. gene. |
| neXtProt | NX_Q8NCM2. |
| PharmGKB | PA30040. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG2202. |
| HOGENOM | HOG000230794. |
| HOVERGEN | HBG101348. |
| InParanoid | Q8NCM2. |
| KO | K04908. |
| OMA | PKCLKVN. |
| OrthoDB | EOG47PX5C. |
| PhylomeDB | Q8NCM2. |
Enzyme and pathway databases | |
| Reactome | REACT_13685. Neuronal System. |
Gene expression databases | |
| ArrayExpress | Q8NCM2. |
| Bgee | Q8NCM2. |
| CleanEx | HS_KCNH5. |
| Genevestigator | Q8NCM2. |
| GermOnline | ENSG00000140015. 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. 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] |
| Pfam | PF00027. cNMP_binding. 1 hit. PF00520. Ion_trans. 1 hit. [Graphical view] |
| PRINTS | PR01463. EAGCHANLFMLY. PR01464. EAGCHANNEL. |
| SMART | SM00100. cNMP. 1 hit. SM00086. PAC. 1 hit. SM00091. PAS. 1 hit. [Graphical view] |
| SUPFAM | SSF51206. cNMP_binding. 1 hit. SSF55785. SSF55785. 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 | 27133. |
| NextBio | 49870. |
| SOURCE | Search... |
Entry information
| Entry name | KCNH5_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NCM2 Secondary accession number(s): C9JP98 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| 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 |
| 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 |

Clusters with
