ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

ACTN1

Full Name:

actinin, alpha 1

Alias:

FLJ40884

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

14q24.1-q24.2|14q24|14q22-q24

Physical Location:

68410792-68515708 on NC_000014.7, complement

Gene Type:

protein-coding

Orthologs:

This gene has Mouse: 109711 Rat: 81634 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Linkage Dataset

Marker

LOD

P value

Location (bp)

D14S258

69652605

Region:		67652605-71652605
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_001102.2	NP_001093.1	NC_000014.7 range: 68410792..68515708, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005925	focal adhesion	Cellular Component	IMP (16807302)
GO:0031143	pseudopodium	Cellular Component	TAS (1629252)
GO:0005737	cytoplasm	Cellular Component	IEA
GO:0005856	cytoskeleton	Cellular Component	IEA
GO:0017166	vinculin binding	Molecular Function	IPI (15988023)
GO:0003779	actin binding	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (10793131)
GO:0005509	calcium ion binding	Molecular Function	IEA
GO:0005178	integrin binding	Molecular Function	IDA (7983147)
GO:0042981	regulation of apoptosis	Biological Process	NAS (16807302)
GO:0048041	focal adhesion formation	Biological Process	IMP (16807302)
GO:0051271	negative regulation of cell motility	Biological Process	IMP (7983147)