Homo sapiens Protein: KCNH1
Summary
InnateDB Protein IDBP-106486.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KCNH1
Protein Name potassium voltage-gated channel, subfamily H (eag-related), member 1
Synonyms EAG; EAG1; h-eag; Kv10.1;
Species Homo sapiens
Ensembl Protein ENSP00000271751
InnateDB Gene IDBG-106484 (KCNH1)
Protein Structure
UniProt Annotation
Function Pore-forming (alpha) subunit of voltage-gated non- inactivating delayed rectifier potassium channel. Channel properties may be modulated by cAMP and subunit assembly. Mediates IK(NI) current in myoblasts.
Subcellular Localization Cell membrane {ECO:0000269PubMed:21559285}; Multi-pass membrane protein {ECO:0000269PubMed:21559285}. Nucleus inner membrane {ECO:0000269PubMed:21559285}; Multi-pass membrane protein {ECO:0000269PubMed:21559285}. Note=Perinuclear KCNH1 is located to NPC-free islands.
Disease Associations
Tissue Specificity Highly expressed in brain and in myoblasts at the onset of fusion, but not in other tissues. Detected in HeLa (cervical carcinoma), SH-SY5Y (neuroblastoma) and MCF-7 (epithelial tumor) cells, but not in normal epithelial cells.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000155 phosphorelay sensor kinase activity
GO:0004871 signal transducer activity
GO:0005216 ion channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
Biological Process
GO:0000160 phosphorelay signal transduction system
GO:0006355 regulation of transcription, DNA-templated
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0007165 signal transduction
GO:0007268 synaptic transmission
GO:0007520 myoblast fusion
GO:0023014 signal transduction by phosphorylation
GO:0034765 regulation of ion transmembrane transport
GO:0042391 regulation of membrane potential
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport
Cellular Component
GO:0005637 nuclear inner membrane
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro IPR000014 PAS domain
IPR000595 Cyclic nucleotide-binding domain
IPR000700 PAS-associated, C-terminal
IPR001610 PAC motif
IPR003938 Potassium channel, voltage-dependent, EAG/ELK/ERG
IPR003949 Potassium channel, voltage-dependent, EAG
IPR003967 Potassium channel, voltage-dependent, ERG
IPR005821 Ion transport domain
IPR013099 Two pore domain potassium channel domain
IPR013767 PAS fold
IPR018490 Cyclic nucleotide-binding-like
PFAM PF13188
PF13426
PF00027
PF00520
PF07885
PF00989
PRINTS PR01463
PR01464
PR01470
PIRSF
SMART SM00091
SM00100
SM00086
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O95259
PhosphoSite PhosphoSite-O95259
TrEMBL
UniProt Splice Variant
Entrez Gene 3756
UniGene Hs.553187
RefSeq NP_758872
HUGO HGNC:6250
OMIM 603305
CCDS CCDS1496
HPRD 04492
IMGT
EMBL AC092017 AC096636 AC099755 AF078741 AF078742 AJ001366 AL590132 BC113709 BC143599 CH471100
GenPept AAC68668 AAC68669 AAI13710 AAI43600 CAA04700 CAH71752 CAH71753 EAW93424 EAW93425