Gene table of BLM : Bloom syndrome RecQ like helicase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with BLM	OMIM link	Number of associated genes	genes
210900	BLOOM SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	BLM

Download the gene annotation in CSV format

Annotation of the gene BLM

Associated genes in ENSEMBL

ENSG00000197299

Associated proteins - SwissProt Accession ID

P54132

Associated PDB IDs

Cytogenetic Band

15q26.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

ESR1

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Homologous recombination	hsa03440	7.91
Fanconi anemia pathway	hsa03460	7.01

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
SUMO E3 ligases SUMOylate target proteins	R-HSA-3108232	6.77
Meiotic recombination	R-HSA-912446	7.25
Metabolism of proteins	R-HSA-392499	3.41
Meiosis	R-HSA-1500620	6.59
SUMOylation	R-HSA-2990846	6.68
SUMOylation of DNA damage response and repair proteins	R-HSA-3108214	6.77
Cell Cycle	R-HSA-1640170	3.89
Post-translational protein modification	R-HSA-597592	4.54

Associated GO terms for Molecular function

GO term	GO ID	GO IC
four-way junction helicase activity	GO:0009378	8.13
ATPase activity	GO:0016887	3.65
ATP-dependent helicase activity	GO:0008026	5.12
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
DNA helicase activity	GO:0003678	5.73
annealing activity	GO:0097617	7.25
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
structure-specific DNA binding	GO:0043566	4.98
pyrophosphatase activity	GO:0016462	3.04
nucleotide binding	GO:0000166	1.96
nucleoside phosphate binding	GO:1901265	1.96
ATP-dependent 3'-5' DNA helicase activity	GO:0043140	7.95
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
single-stranded DNA binding	GO:0003697	5.17
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
ATP-dependent DNA helicase activity	GO:0004003	6.13
DNA secondary structure binding	GO:0000217	6.6
nucleoside-triphosphatase activity	GO:0017111	3.09
helicase activity	GO:0004386	4.69
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
annealing helicase activity	GO:0036310	7.66
DNA-dependent ATPase activity	GO:0008094	5.31
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
G-quadruplex DNA binding	GO:0051880	7.95
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ATPase activity, coupled	GO:0042623	3.97
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
purine NTP-dependent helicase activity	GO:0070035	5.12
bubble DNA binding	GO:0000405	7.79
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
3'-5' DNA helicase activity	GO:0043138	7.25
p53 binding	GO:0002039	5.53
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19