Bloom syndrome protein

BLM
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2KV2, 2MH9, 2RRD, 3WE2, 3WE3, 4CDG, 4CGZ, 4O3M
Identifiers
Aliases	BLM, BS, RECQ2, RECQL2, RECQL3, Bloom syndrome RecQ like helicase, BLM RecQ like helicase, MGRISCE1
External IDs	OMIM: 604610; MGI: 1328362; HomoloGene: 47902; GeneCards: BLM; OMA:BLM - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	90,816,166 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	80,184,867 bp
RNA expression pattern
	Top expressed in
	parotid gland; ; gonad; ; secondary oocyte; ; ventricular zone; ; ganglionic eminence; ; testicle; ; tonsil; ; apex of heart; ; trabecular bone; ; right auricle of heart;
	Top expressed in
	tail of embryo; ; fetal liver hematopoietic progenitor cell; ; primitive streak; ; epiblast; ; otic placode; ; secondary oocyte; ; zygote; ; genital tubercle; ; primary oocyte; ; ureter;
	More reference expression data
	n/a
Gene ontology
Molecular function	ATP-dependent DNA/DNA annealing activity; nucleotide binding; helicase activity; DNA helicase activity; bubble DNA binding; p53 binding; G-quadruplex DNA binding; single-stranded DNA binding; hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides; ATPase activity; protein binding; catalytic activity; nucleic acid binding; four-way junction helicase activity; hydrolase activity; ATP binding; 3'-5' DNA helicase activity; four-way junction DNA binding; Y-form DNA binding; forked DNA-dependent helicase activity; telomeric D-loop binding; telomeric G-quadruplex DNA binding; 8-hydroxy-2'-deoxyguanosine DNA binding; DNA binding; ATP-dependent activity, acting on DNA; zinc ion binding; protein homodimerization activity; metal ion binding;
Cellular component	PML body; nuclear matrix; intracellular anatomical structure; nucleoplasm; lateral element; telomere; nuclear chromosome; nucleolus; nucleus; cytoplasm; cytosol; replication fork; chromosome; pronucleus;
Biological process	DNA recombination; regulation of cyclin-dependent protein serine/threonine kinase activity; replication fork protection; DNA double-strand break processing; positive regulation of transcription, DNA-templated; negative regulation of cell division; cellular response to camptothecin; cell metabolism; protein complex oligomerization; replication fork processing; negative regulation of DNA recombination; cellular response to ionizing radiation; mitotic G2 DNA damage checkpoint signaling; response to X-ray; cellular response to hydroxyurea; DNA repair; double-strand break repair via homologous recombination; telomeric D-loop disassembly; DNA replication; t-circle formation; DNA duplex unwinding; G-quadruplex DNA unwinding; protein homooligomerization; regulation of DNA-dependent DNA replication; cellular response to DNA damage stimulus; resolution of meiotic recombination intermediates; DNA synthesis involved in DNA repair; strand displacement; double-strand break repair via nonhomologous end joining; meiotic DNA double-strand break processing involved in reciprocal meiotic recombination; negative regulation of apoptotic process; double-strand break repair via synthesis-dependent strand annealing; negative regulation of mitotic recombination; alpha-beta T cell differentiation; positive regulation of alpha-beta T cell proliferation; meiotic chromosome separation; negative regulation of thymocyte apoptotic process; resolution of recombination intermediates; negative regulation of double-strand break repair via single-strand annealing; positive regulation of double-strand break repair via homologous recombination; regulation of signal transduction by p53 class mediator; telomere maintenance; DNA unwinding involved in DNA replication;
	Sources:Amigo / QuickGO
Orthologs
	641
	12144
	ENSG00000197299
	ENSMUSG00000030528
	P54132
	O88700
	NM_000057; NM_001287246; NM_001287247; NM_001287248
	NM_001042527; NM_007550
	NP_000048; NP_001274175; NP_001274176; NP_001274177; NP_001274177.1
	NP_001035992; NP_031576
	Wikidata
View/Edit Human	View/Edit Mouse

Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome.

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 homologous recombination.