ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

NFKB1

Full Name:

nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)

Alias:

DKFZp686C01211|EBP-1|KBF1|MGC54151|NF-kappa-B|NFKB-p105|NFKB-p50

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

4q24

Physical Location:

103641517-103757506 on NC_000004.10

Gene Type:

protein-coding

Orthologs:

This gene has Rat: 81736 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

NFKB1

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.

Gene Information

HuGE Navigator Dataset

Name:		HuGE Navigator
Method:		Literature data mining
Publication:		Wei Yu, Melinda Clyne, Anja Wulf, Ajay Yesupriya, Marta Gwinn and Muin J. Khoury. Phenopedia. HuGE Navigator. Available at: http://www.hugenavigator.net/HuGENavigator/startPagePhenoPedia.do. Accessed [Jun. 10, 2008].
Summary:		HuGE Navigator Phenopedia provides a disease-centered view of genetic association studies summarized in the online Human Genome Epidemiology (HuGE) encyclopedia. We extracted genes associated to 9 Alcohol-related diseases (Alcohol Amnestic Disorder; Alcohol Withdrawal Delirium; Alcohol Withdrawal Seizures; Alcohol-Induced Disorders; Alcohol-Induced Disorders, Nervous System; Alcohol-Related Disorders; Alcoholic Intoxication; Alcoholic Neuropathy; Alcoholism) from HuGE Navigator Phenopedia.

Linkage Dataset

Marker

LOD

P value

Location (bp)

D4S423

2.61

0.0003

92691777

D4S427

3.53

0.00003

121646580

Region:		92691777-121646580
Phenotype:		ADSX (number of DSM-IV AD symptoms)
Name:		16534506
Method:		Linkage
Publication:		Prescott et al. Mol Psychiatry. (2006) Genomewide linkage study in the Irish affected sib pair study of alcohol dependence: evidence for a susceptibility region for symptoms of alcohol dependence on chromosome 4. PubMed
Summary:		We conducted a genome scan in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD). A 4 cM genome scan was conducted using 474 families of which most (96%) were comprised by affected sib pairs. Nonparametric and quantitative linkage analyses were conducted using DSM-IV alcohol dependence (AD) and number of DSM-IV AD symptoms (ADSX). Quantitative results indicate strong linkage for number of AD criteria to a broad region of chromosome 4, ranging from 4q22 to 4q32 (peak multipoint LOD=4.59, P=2.1 x 10(-6), at D4S1611). We got the gene list in the region between two markers D4S423 and D4S427 as markers between (included) these two markers have LOD scores >2 with P value <0.0003.

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_003998.2	NP_003989.2	NC_000004.10 range: 103641517..103757506

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005634	nucleus	Cellular Component	IDA (11819787)
GO:0005654	nucleoplasm	Cellular Component	EXP (10723127)
GO:0005737	cytoplasm	Cellular Component	IDA (11819787)
GO:0005829	cytosol	Cellular Component	EXP (10723127)
GO:0003700	transcription factor activity	Molecular Function	TAS (10928981)
GO:0005515	protein binding	Molecular Function	IPI (8196632\|11526476\|14624448\|16108830\|16306601)
GO:0007165	signal transduction	Biological Process	IEA
GO:0006954	inflammatory response	Biological Process	TAS (1992489)
GO:0006916	anti-apoptosis	Biological Process	TAS (10811897)
GO:0006915	apoptosis	Biological Process	IEA
GO:0006366	transcription from RNA polymerase II promoter	Biological Process	TAS (1992489)
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	IEA
GO:0045941	positive regulation of transcription	Biological Process	NAS (8096091)