ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

EIF2AK1

Full Name:

eukaryotic translation initiation factor 2-alpha kinase 1

Alias:

HRI|KIAA1369

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

7p22

Physical Location:

6029987-6065301 on NC_000007.12, complement

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Linkage Dataset

Marker

LOD

P value

Location (bp)

D7S517

4464441

Region:		2464441-6464441
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_014413.2	NP_055228.2	NC_000007.12 range: 6029987..6065301, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005737	cytoplasm	Cellular Component	IDA (11256614)
GO:0000166	nucleotide binding	Molecular Function	IEA
GO:0042803	protein homodimerization activity	Molecular Function	ISS
GO:0020037	heme binding	Molecular Function	ISS
GO:0016740	transferase activity	Molecular Function	IEA
GO:0005524	ATP binding	Molecular Function	IEA
GO:0004694	eukaryotic translation initiation factor 2alpha kinase activity	Molecular Function	IDA (11036079)
GO:0009605	response to external stimulus	Biological Process	IEP (11036079)
GO:0006950	response to stress	Biological Process	IEP (11036079)
GO:0017148	negative regulation of translation	Biological Process	IEA
GO:0045993	negative regulation of translational initiation by iron	Biological Process	NAS (11036079)
GO:0046777	protein amino acid autophosphorylation	Biological Process	ISS
GO:0046986	negative regulation of hemoglobin biosynthetic process	Biological Process	ISS