Bloom syndrome (gene)

BLM

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
2KV2, 2MH9, 2RRD, 3WE2, 3WE3, 4CDG, 4CGZ, 4O3M

Identifiers

BLM, BS, RECQ2, RECQL2, RECQL3, Bloom syndrome RecQ like helicase

External IDs

MGI: 1328362 HomoloGene: 47902 GeneCards: BLM

Gene location (Human)

Chr.	Chromosome 15 (human)

Band	15q26.1	Start	90,717,327 bp
Band	15q26.1	End	90,816,165 bp

Gene location (Mouse)

Chr.	Chromosome 7 (mouse)

Band	7 D2\|7 45.65 cM	Start	80,454,733 bp
Band	7 D2\|7 45.65 cM	End	80,535,119 bp

Gene ontology
Molecular function	• annealing helicase activity • nucleotide binding • helicase activity • ATP-dependent DNA helicase activity • bubble DNA binding • p53 binding • ATP-dependent helicase activity • 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 • ATP-dependent 3'-5' DNA helicase activity • 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 • DNA-dependent ATPase activity • zinc ion binding • protein homodimerization activity • metal ion binding
Cellular component	• PML body • nuclear matrix • intracellular • nucleoplasm • lateral element • chromosome, telomeric region • nuclear chromosome • nucleolus • nucleus • cytoplasm • cytosol • replication fork
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 • cellular metabolic process • protein oligomerization • replication fork processing • negative regulation of DNA recombination • cellular response to ionizing radiation • mitotic G2 DNA damage checkpoint • response to X-ray • cellular response to hydroxyurea • strand displacement • DNA synthesis involved in DNA repair • DNA repair • DNA strand renaturation • regulation of signal transduction by p53 class mediator • double-strand break repair via homologous recombination • telomeric D-loop disassembly • DNA replication • t-circle formation • DNA duplex unwinding • G-quadruplex DNA unwinding • protein complex oligomerization • protein homooligomerization • regulation of DNA-dependent DNA replication • cellular response to DNA damage stimulus
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse


641


12144


ENSG00000197299


ENSMUSG00000030528


P54132


O88700

RefSeq (mRNA)


NM_000057 NM_001287246 NM_001287247 NM_001287248


NM_001042527 NM_007550

RefSeq (protein)


NP_000048 NP_001274175 NP_001274176 NP_001274177 NP_001274177.1


NP_001035992 NP_031576

Location (UCSC)

Chr 15: 90.72 – 90.82 Mb

Chr 15: 80.45 – 80.54 Mb

PubMed search

2KV2, 2MH9, 2RRD, 3WE2, 3WE3, 4CDG, 4CGZ, 4O3M

ENSG00000197299

ENSMUSG00000030528

NM_000057
NM_001287246
NM_001287247
NM_001287248

NM_001042527
NM_007550

NP_000048
NP_001274175
NP_001274176
NP_001274177
NP_001274177.1

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