ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

GNPTAB

Full Name:

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

Alias:

DKFZp762B226|GNPTA|ICD|KIAA1208|MGC4170

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

12q23.2

Physical Location:

100663407-100748762 on NC_000012.10, complement

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Gene Information

Original ID1:		Hs.46850
Note:		"Class I, down-regulated gene"

Dataset Information

Name:		16292326
Method:		Microarray
Tissue:		Frontal cortex
Phenotype:		Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:		Liu et al. Neuropsychopharmacology. (2006) Patterns of gene expression in the frontal cortex discriminate alcoholic from nonalcoholic individuals. PubMed
Summary:		In the present study, microarray analysis (approximately 47,000 elements) was performed on the superior frontal cortex of 27 individual human cases (14 well characterized alcoholics and 13 matched controls). A classification system was developed in which differentially expressed genes were divided into two classes. Class I genes were qualitatively different, that is, they were predominantly detected in one group but not the other. Multiple criteria were used to define Class II genes. First, only the genes detected on over 80% of the arrays in both groups. Class II were then defined as those consistently detected in both groups having absolute PLS loadings scores of >2.0 and t- probabilities of <0.05.

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_024312.3	NP_077288.2	NC_000012.10 range: 100663407..100748762, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005634	nucleus	Cellular Component	IEA
GO:0005764	lysosome	Cellular Component	IEA
GO:0005794	Golgi apparatus	Cellular Component	IEA
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0016020	membrane	Cellular Component	IEA
GO:0003976	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	Molecular Function	IEA
GO:0016740	transferase activity	Molecular Function	IEA
GO:0008134	transcription factor binding	Molecular Function	IEA
GO:0005509	calcium ion binding	Molecular Function	IEA
GO:0030154	cell differentiation	Biological Process	IEA