BLM Bloom syndrome, RecQ helicase-like [Homo sapiens (human)]

Gene Symbol	BLM
Entrez Gene ID	641
Full Name	Bloom syndrome, RecQ helicase-like
Synonyms	BS, MGC126616, MGC131618, MGC131620, RECQ2, RECQL2, RECQL3
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:15 Map Location:15q26.1
Summary	The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq].
Disorder	MIM: 604610 Bloom syndrome, 210900 (3)

KEGG

hsa03440

Homologous recombination

Pathway Interaction Database

telomerasepathway

Regulation of Telomerase

Homo sapiens (human)	BLM	NP_000048.1
Pan troglodytes (chimpanzee)	BLM	XP_510594.2
Bos taurus (cattle)	BLM	XP_613809.3
Mus musculus (house mouse)	Blm	NP_001035992.1
Rattus norvegicus (Norway rat)	Blm	XP_218837.4
Gallus gallus (chicken)	BLM	NP_001007088.1
Danio rerio (zebrafish)	blm	XP_701357.3
Arabidopsis thaliana (thale cress)	RECQI1	NP_187225.2

Process

ID	Name	Evidence
GO:0000079	regulation of cyclin-dependent protein kinase activity	IMP
GO:0000085	G2 phase of mitotic cell cycle	NAS
GO:0000723	telomere maintenance	IEA
GO:0000724	double-strand break repair via homologous recombination	NAS
GO:0000733	DNA strand renaturation	IDA
GO:0006200	ATP catabolic process	IDA
GO:0006260	DNA replication	IEA
GO:0006281	DNA repair	NAS
GO:0006310	DNA recombination	NAS
GO:0006974	response to DNA damage stimulus	IMP
GO:0010165	response to X-ray	IDA
GO:0031297	replication fork processing	IDA
GO:0031572	G2/M transition DNA damage checkpoint	NAS
GO:0044237	cellular metabolic process	IEA
GO:0045893	positive regulation of transcription, DNA-dependent	IDA
GO:0045910	negative regulation of DNA recombination	IMP
GO:0045950	negative regulation of mitotic recombination	IEA
GO:0046632	alpha-beta T cell differentiation	IEA
GO:0046641	positive regulation of alpha-beta T cell proliferation	IEA
GO:0048478	replication fork protection	NAS
GO:0051098	regulation of binding	IEA
GO:0051259	protein oligomerization	IDA
GO:0051276	chromosome organization	IEA
GO:0051782	negative regulation of cell division	IMP

Component

ID	Name	Evidence
GO:0000781	chromosome, telomeric region	IDA
GO:0000800	lateral element	IDA
GO:0001673	male germ cell nucleus	IEA
GO:0005622	intracellular	IEA
GO:0005634	nucleus	IDA
GO:0005657	replication fork	IEA
GO:0005730	nucleolus	IDA
GO:0005737	cytoplasm	IDA
GO:0016363	nuclear matrix	IDA
GO:0016605	PML body	IDA
GO:0016605	PML body	IDA
GO:0045120	pronucleus	IEA

Function

ID	Name	Evidence
GO:0000166	nucleotide binding	IEA
GO:0000405	bubble DNA binding	IDA
GO:0000739	DNA strand annealing activity	IDA
GO:0002039	p53 binding	IPI
GO:0003677	DNA binding	IEA
GO:0003697	single-stranded DNA binding	IDA
GO:0004003	ATP-dependent DNA helicase activity	IDA
GO:0004386	helicase activity	IDA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IDA
GO:0008026	ATP-dependent helicase activity	IDA
GO:0009378	four-way junction helicase activity	IDA
GO:0016787	hydrolase activity	IEA
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA
GO:0016887	ATPase activity	IDA
GO:0043140	ATP-dependent 3'-5' DNA helicase activity	IEA
GO:0051880	G-quadruplex DNA binding	IDA

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RefSeq Accession	Definition	Sequence	Price	Select
NM_000057	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	Full Length	$1584.80
NM_000057		ORF Sequence	$1488.90