ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

641

Symbol:

BLM

Full Name:

Bloom syndrome

Alias:

BS|MGC126616|MGC131618|MGC131620|RECQ2|RECQL2|RECQL3

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

15q26.1

Physical Location:

89061582-89159689 on NC_000015.8

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

BLM

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 Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_000057.2	NP_000048.1	NC_000015.8 range: 89061582..89159689

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005634	nucleus	Cellular Component	IDA (9388480\|11500040)
GO:0005730	nucleolus	Cellular Component	IDA (10779560)
GO:0016363	nuclear matrix	Cellular Component	IDA (11309417)
GO:0000800	lateral element	Cellular Component	IDA (10728666)
GO:0000781	chromosome, telomeric region	Cellular Component	IDA (10779560)
GO:0016605	PML body	Cellular Component	IDA (10728666)
GO:0016605	PML body	Cellular Component	IDA (10779560)
GO:0005622	intracellular	Cellular Component	IEA
GO:0016787	hydrolase activity	Molecular Function	IEA
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	Molecular Function	IEA
GO:0009378	four-way junction helicase activity	Molecular Function	IDA (11433031\|12818200)
GO:0016887	ATPase activity	Molecular Function	IDA (17878217)
GO:0051880	G-quadruplex DNA binding	Molecular Function	IDA (11433031)
GO:0005524	ATP binding	Molecular Function	IDA (17878217)
GO:0000166	nucleotide binding	Molecular Function	IEA
GO:0000405	bubble DNA binding	Molecular Function	IDA (11433031)
GO:0000739	DNA strand annealing activity	Molecular Function	IDA (17878217)
GO:0002039	p53 binding	Molecular Function	IPI (11781842)
GO:0003677	DNA binding	Molecular Function	IEA
GO:0004003	ATP-dependent DNA helicase activity	Molecular Function	IDA (9388193)
GO:0045910	negative regulation of DNA recombination	Biological Process	IMP (9671747)
GO:0045941	positive regulation of transcription	Biological Process	IDA (11781842)
GO:0051259	protein oligomerization	Biological Process	IDA (10359700)
GO:0048478	replication fork protection	Biological Process	NAS (10779560)
GO:0051782	negative regulation of cell division	Biological Process	IMP (11781842)
GO:0044237	cellular metabolic process	Biological Process	IEA
GO:0031572	G2/M transition DNA damage checkpoint	Biological Process	NAS (11309417)
GO:0010165	response to X-ray	Biological Process	IDA (11309417)
GO:0006281	DNA repair	Biological Process	NAS (7585968)
GO:0006260	DNA replication	Biological Process	IEA
GO:0000724	double-strand break repair via homologous recombination	Biological Process	NAS (11309417)
GO:0000085	G2 phase of mitotic cell cycle	Biological Process	NAS (11309417)
GO:0000079	regulation of cyclin-dependent protein kinase activity	Biological Process	IMP (15604258)