ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

KCNA1

Full Name:

potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)

Alias:

AEMK|EA1|HBK1|HUK1|KV1.1|MBK1|MGC126782|MGC138385|MK1|RBK1

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

12p13.32

Physical Location:

4889333-4897682 on NC_000012.10

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

KCNA1

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

Linkage Dataset

Marker

LOD

P value

Location (bp)

D12S99

5434815

Region:		3434815-7434815
Phenotype:		Alcoholism phenotype along with age, gender, and P300 or constraint
Name:		15211641
Method:		Linkage
Publication:		Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:		A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_000217.2	NP_000208.2	NC_000012.10 range: 4889333..4897682

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0016020	membrane	Cellular Component	IEA
GO:0005624	membrane fraction	Cellular Component	NR
GO:0008076	voltage-gated potassium channel complex	Cellular Component	TAS (8845167)
GO:0008076	voltage-gated potassium channel complex	Cellular Component	IEA
GO:0005244	voltage-gated ion channel activity	Molecular Function	IEA
GO:0015079	potassium ion transmembrane transporter activity	Molecular Function	TAS (8845167)
GO:0030955	potassium ion binding	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IEA
GO:0005251	delayed rectifier potassium channel activity	Molecular Function	TAS (8845167)
GO:0005249	voltage-gated potassium channel activity	Molecular Function	IEA
GO:0006813	potassium ion transport	Biological Process	TAS (8845167)
GO:0007268	synaptic transmission	Biological Process	TAS (7842011)
GO:0006813	potassium ion transport	Biological Process	IEA
GO:0006811	ion transport	Biological Process	IEA
GO:0006936	muscle contraction	Biological Process	NR