ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

C1S

Full Name:

complement component 1, s subcomponent

Organism:

Homo sapiens (Human)

Chromosome:

12

Genetic Location:

12p13

Physical Location:

7038277-7048596 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:

C1S

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)

D12S99

5434815

Region:		3434815-7434815
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_001734.2	NP_001725.1	NC_000012.10 range: 7038277..7048596
NM_201442.1	NP_958850.1	NC_000012.10 range: 7038277..7048596

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005576	extracellular region	Cellular Component	EXP (814163\|1249422)
GO:0005576	extracellular region	Cellular Component	IEA
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0001584	rhodopsin-like receptor activity	Molecular Function	IEA
GO:0003674	molecular_function	Molecular Function	ND
GO:0003816	complement component C1s activity	Molecular Function	TAS (9856483)
GO:0005509	calcium ion binding	Molecular Function	IEA
GO:0008150	biological_process	Biological Process	ND
GO:0007186	G-protein coupled receptor protein signaling pathway	Biological Process	IEA
GO:0006958	complement activation, classical pathway	Biological Process	IEA
GO:0006508	proteolysis	Biological Process	IEA
GO:0045087	innate immune response	Biological Process	IEA

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000182326

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: