KCNH1 (potassium voltage-gated channel, subfamily H (eag-related), member 1)

2008-01-01   Luis A Pardo 

Max-Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany

Identity

HGNC
LOCATION
1q32.2
LOCUSID
ALIAS
EAG,EAG1,Kv10.1,TMBTS,ZLS1,h-eag,hEAG,hEAG1
FUSION GENES

DNA/RNA

Description

450 Kb, 11 exons.

Transcription

Main RNA species with 9Kb. An alternatively spliced variant with 81 additional bp.

Proteins

Description

Tetramer consisting of subunits with 969 aminoacids each. The protein contains a PAS domain at the N-terminus, "Channel" domain with typical features of K channels (six putatively transmembrane segments and a pore loop between fifth and sixth). Large C-terminal domain with cyclic-nucleotide-binding domain, calmodulin binding site, tetramerizing coiled-coil. The sequence has many potential posttranslational modification sites, but only glycosylation has been reported.

Expression

Abundant in many brain regions, virtually absent from extracranial tissues. Detected in gastric gland chief cells, pancreatic acini, spermatogenic cells, endocervix, secretory endometrium, reactive lymph nodes (germinal centre), mast cells, macrophages, anterior pituitary, adrenal gland.

Localisation

Plasma membrane. Abundant in intracellular pools both in neurons and tumor cells.

Function

Voltage-gated potassium channel.

Homology

Homologous to the "six-transmembrane, one pore" potassium channel superfamily.

Implicated in

Entity name
Sarcomas (71% positivity).
Disease
Fibrosarcoma, leiomyosarcoma, liposarcoma, malignant fibrous histiocytoma, rhabdomyosarcoma, synovial sarcoma.
Prognosis
Indicative of worse outcome in liposarcoma.
Entity name
Solid epithelial tumors (70% positivity).
Disease
Esophageal, gastric, colon, hepatocellular, gallbladder, pancreatic, renal cell, transitional, prostate, cervical, endometrial, breast and bronchus carcinoma ; cystadenocarcinoma of the ovary, thyroid papillary carcinoma, basalioma, spinalioma, malignant melanoma.

Bibliography

Pubmed IDLast YearTitleAuthors

Other Information

Locus ID:

NCBI: 3756
MIM: 603305
HGNC: 6250
Ensembl: ENSG00000143473

Variants:

dbSNP: 3756
ClinVar: 3756
TCGA: ENSG00000143473
COSMIC: KCNH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143473ENST00000271751O95259
ENSG00000143473ENST00000367007A0A1X7SBS6
ENSG00000143473ENST00000638357A0A1W2PRZ5
ENSG00000143473ENST00000638498A0A1W2PNI2
ENSG00000143473ENST00000638960O95259
ENSG00000143473ENST00000639952O95259
ENSG00000143473ENST00000640044A0A1W2PPA2
ENSG00000143473ENST00000640243A0A1W2PRV9
ENSG00000143473ENST00000640522A0A1W2PP68
ENSG00000143473ENST00000640528O95259
ENSG00000143473ENST00000640566A0A0S1TJ81
ENSG00000143473ENST00000640625A0A1W2PRD8
ENSG00000143473ENST00000640710O95259

Expression (GTEx)

0
1
2
3
4
5
6
7

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
243364912014The roles of K(+) channels in cancer.126
173604572007KCNQ potassium channel mutations cause cardiac arrhythmias in Drosophila that mimic the effects of aging.114
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
189270852008Eag1 expression interferes with hypoxia homeostasis and induces angiogenesis in tumors.56
165375472006Silencing the activity and proliferative properties of the human EagI Potassium Channel by RNA Interference.45
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
259155982015Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.45
155487642005Discovery of a small molecule activator of the human ether-a-go-go-related gene (HERG) cardiac K+ channel.44
170228112006Ether à go-go potassium channel expression in soft tissue sarcoma patients.40
254201442015Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.37

Citation

Luis A Pardo

KCNH1 (potassium voltage-gated channel, subfamily H (eag-related), member 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-01-01

Online version: http://atlasgeneticsoncology.org/gene/41048/css/lib/bootstrap.min.css