ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

AACS

Full Name:

acetoacetyl-CoA synthetase

Alias:

ACSF1|FLJ12389|FLJ41251|SUR-5

Organism:

Homo sapiens (Human)

Chromosome:

12

Genetic Location:

12q24.31

Physical Location:

124115877-124193823 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:

AACS

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)

D12S324

125191039

Region:		123191039-127191039
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_023928.3	NP_076417.2	NC_000012.10 range: 124115877..124193823

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005737	cytoplasm	Cellular Component	IEA
GO:0003824	catalytic activity	Molecular Function	IEA
GO:0003987	acetate-CoA ligase activity	Molecular Function	IEA
GO:0016874	ligase activity	Molecular Function	IEA
GO:0030729	acetoacetate-CoA ligase activity	Molecular Function	IEA
GO:0006629	lipid metabolic process	Biological Process	IEA
GO:0006631	fatty acid metabolic process	Biological Process	IEA
GO:0008152	metabolic process	Biological Process	IEA

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000081760

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: