ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

51752

Symbol:

ERAP1

Full Name:

endoplasmic reticulum aminopeptidase 1

Alias:

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

5q15

Physical Location:

96122269-96169647 on NC_000005.8, 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)

D5S644

95838450

Region:		95838450-103990852
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_001040458.1	NP_001035548.1	NC_000005.8 range: 96122269..96169647, complement
NM_016442.3	NP_057526.3	NC_000005.8 range: 96122269..96169647, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0016020	membrane	Cellular Component	IEA
GO:0016021	integral to membrane	Cellular Component	NAS (12748171)
GO:0005829	cytosol	Cellular Component	NAS (10220586)
GO:0005789	endoplasmic reticulum membrane	Cellular Component	IEA
GO:0005788	endoplasmic reticulum lumen	Cellular Component	TAS (15691326)
GO:0005783	endoplasmic reticulum	Cellular Component	NAS (12748171)
GO:0005576	extracellular region	Cellular Component	IDA (11056387)
GO:0005515	protein binding	Molecular Function	IPI (12748171)
GO:0008270	zinc ion binding	Molecular Function	NAS (10220586)
GO:0008237	metallopeptidase activity	Molecular Function	IEA
GO:0004178	leucyl aminopeptidase activity	Molecular Function	IDA (10220586)
GO:0046872	metal ion binding	Molecular Function	IEA
GO:0004179	membrane alanyl aminopeptidase activity	Molecular Function	IEA
GO:0004239	methionyl aminopeptidase activity	Molecular Function	NAS (12748171)
GO:0005138	interleukin-6 receptor binding	Molecular Function	IPI (12748171)
GO:0005151	interleukin-1, Type II receptor binding	Molecular Function	TAS (15691326)
GO:0045444	fat cell differentiation	Biological Process	NAS (11056387)
GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	Biological Process	NAS (12748171)
GO:0045088	regulation of innate immune response	Biological Process	NAS (12748171)
GO:0008217	regulation of blood pressure	Biological Process	NAS (11056387)
GO:0006955	immune response	Biological Process	IEA
GO:0006509	membrane protein ectodomain proteolysis	Biological Process	IDA (12748171)
GO:0006508	proteolysis	Biological Process	IEA
GO:0001525	angiogenesis	Biological Process	TAS (15691326)