ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

CPS1

Full Name:

carbamoyl-phosphate synthetase 1, mitochondrial

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

2q35

Physical Location:

211129582-211252075 on NC_000002.10

Gene Type:

protein-coding

Orthologs:

This gene has Mouse: 227231 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

CPS1

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)

D2S117

195326948

Region:		195326948-216757195
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_001875.3	NP_001866.2	NC_000002.10 range: 211129582..211252075

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005739	mitochondrion	Cellular Component	TAS (1840546)
GO:0016874	ligase activity	Molecular Function	IEA
GO:0005524	ATP binding	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (12620389)
GO:0004087	carbamoyl-phosphate synthase (ammonia) activity	Molecular Function	TAS (1840546)
GO:0004086	carbamoyl-phosphate synthase activity	Molecular Function	IEA
GO:0000166	nucleotide binding	Molecular Function	IEA
GO:0006541	glutamine metabolic process	Biological Process	IEA
GO:0006807	nitrogen compound metabolic process	Biological Process	IEA
GO:0000050	urea cycle	Biological Process	IEA