Protein Details: Potassium voltage-gated channel subfamily H member 1

Protein ID

ICDB_Pro_0293

Protein Name

Potassium voltage-gated channel subfamily H member 1

Gene Name

KCNH1; EAG; EAG1

Organism

Homo sapiens (Human)

Length

989 amino acids

AlphaFoldDB

AF-O95259-F1-model_v4.pdb

Function

Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel. Channel properties are modulated by subunit assembly. Mediates IK(NI) current in myoblasts. Involved in the regulation of cell proliferation and differentiation;in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs)

Sequence

MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEVMQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRTPVWFFVKIAPIRNEQDKVVLFLCTFSDITAFKQPIEDDSCKGWGKFARLTRALTSSRGVLQQLAPSVQKGENVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVSFKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDLLSCLPYDVINAFENVDEVSAFMGDPGKIGFADQIPPPLEGRESQGISSLFSSLKVVRLLRLGRVARKLDHYIEYGAAVLVLLVCVFGLAAHWMACIWYSIGDYEIFDEDTKTIRNNSWLYQLAMDIGTPYQFNGSGSGKWEGGPSKNSVYISSLYFTMTSLTSVGFGNIAPSTDIEKIFAVAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHEMLNSVRDFLKLYQVPKGLSERVMDYIVSTWSMSRGIDTEKVLQICPKDMRADICVHLNRKVFKEHPAFRLASDGCLRALAMEFQTVHCAPGDLIYHAGESVDSLCFVVSGSLEVIQDDEVVAILGKGDVFGDVFWKEATLAQSCANVRALTYCDLHVIKRDALQKVLEFYTAFSHSFSRNLILTYNLRKRIVFRKISDVKREEEERMKRKNEAPLILPPDHPVRRLFQRFRQQKEARLAAERGGRDLDDLDVEKGNVLTEHASANHSLVKASVVTVRESPATPVSFQAASTSGVPDHAKLQAPGSECLGPKGGGGDCAKRKSWARFKDACGKSEDWNKVSKAESMETLPERTKASGEATLKKTDSCDSGITKSDLRLDNVGEARSPQDRSPILAEVKHSFYPIPEQTLQATVLEVRHELKEDIKALNAKMTNIEKQLSEILRILTSRRSSQSPQELFEISRPQSPESERDIFGAS

PDB Structures

5J7E

Ligand Binding

1. DICL_CP

2. DICL_Pep

Binding Site

Disease

Zimmermann-Laband Syndrome 1 and Temple-Baraitser Syndrome

Location

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.

DOI ID

10.1016/s0014-5793(98)00973-9; 10.1093/emboj/18.20.5540; 10.1038/nature04727; 10.1101/gr.2596504; 10.1093/emboj/19.13.3263; 10.1016/s0014-5793(02)02365-7; 10.1371/journal.pone.0019257; 10.1016/j.febslet.2012.07.055; 10.1074/jbc.m112.372540; 10.1016/j.jmb.2012.06.025; 10.1002/jcp.24435; 10.1371/journal.pone.0090024; 10.1113/jphysiol.2014.281600; 10.1038/ng.3153; 10.1038/ng.3282; 10.1074/jbc.m116.733576; 10.1038/srep23417; 10.1016/j.str.2016.07.020; 10.1016/j.bcp.2018.08.038; 10.1107/s2053230x16009419

RefSeq

NP_002229.1 [O95259-2]; NP_758872.1 [O95259-1]