ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

CHPT1

Full Name:

choline phosphotransferase 1

Alias:

CPT|CPT1

Organism:

Homo sapiens (Human)

Chromosome:

12

Genetic Location:

12q

Physical Location:

100615547-100646976 on NC_000012.10

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)

D12S346

98052454

Region:		98052454-102788867
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_020244.2	NP_064629.2	NC_000012.10 range: 100615547..100646976

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0000139	Golgi membrane	Cellular Component	IEA
GO:0005792	microsome	Cellular Component	NAS (10893425)
GO:0005794	Golgi apparatus	Cellular Component	IEA
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0016020	membrane	Cellular Component	NAS (10893425)
GO:0019992	diacylglycerol binding	Molecular Function	NAS (10893425)
GO:0016780	phosphotransferase activity, for other substituted phosphate groups	Molecular Function	IEA
GO:0016740	transferase activity	Molecular Function	IEA
GO:0030145	manganese ion binding	Molecular Function	IEA
GO:0004142	diacylglycerol cholinephosphotransferase activity	Molecular Function	IEP (10893425)
GO:0000287	magnesium ion binding	Molecular Function	IEA
GO:0006663	platelet activating factor biosynthetic process	Biological Process	IDA (10893425)
GO:0006629	lipid metabolic process	Biological Process	TAS (10893425)
GO:0001558	regulation of cell growth	Biological Process	NAS (10893425)
GO:0006657	CDP-choline pathway	Biological Process	NAS (10893425)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000111666

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: