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The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]
BLM (BLM RecQ Like Helicase) is a Protein Coding gene. Diseases associated with BLM include Bloom Syndrome and Cutaneous Telangiectasia And Cancer Syndrome, Familial. Among its related pathways are Resolution of D-loop Structures through Holliday Junction Intermediates and Homologous DNA Pairing and Strand Exchange. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATPase activity. An important paralog of this gene is WRN.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000400 | four-way junction DNA binding | IDA | 11735402 |
GO:0000403 | Y-form DNA binding | IDA | 11735402 |
GO:0000405 | bubble DNA binding | IDA | 11433031 |
GO:0002039 | p53 binding | IPI | 11781842 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000228 | nuclear chromosome | IDA | 23509288 |
GO:0000781 | colocalizes_with chromosome, telomeric region | IDA | 10779560 |
GO:0000800 | lateral element | IDA | 10728666 |
GO:0005634 | nucleus | IEA,IDA | 9388480 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | DNA Double-Strand Break Repair |
.53
|
|
2 | Resolution of D-loop Structures through Holliday Junction Intermediates | ||
3 | Homologous DNA Pairing and Strand Exchange | ||
4 | Regulation of TP53 Activity | ||
5 | SUMOylation |
.95
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity | IMP | 15604258 |
GO:0000723 | telomere maintenance | IBA | 21873635 |
GO:0000724 | double-strand break repair via homologous recombination | IBA,NAS | 11309417 |
GO:0000729 | DNA double-strand break processing | IDA | 21325134 |
GO:0000733 | DNA strand renaturation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Amoxicillin | Approved, Vet_approved | Pharma | Enzyme, substrate | 692 | ||
Citric acid | Approved, Vet_approved | Nutra | Target | 1584 | ||
Bleomycin | Approved, Investigational | Pharma | 176 | |||
Dacarbazine | Approved, Investigational | Pharma | 198 | |||
Doxorubicin | Approved, Investigational | Pharma | Topo II inhibitor,immunosuppresive antineoplastic antibiotic | 2086 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
Compound | Action | Cas Number |
---|---|---|
ML216 | BLM helicase inhibitor | 1430213-30-1 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 24 | ^ | 25a | · | 25b |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BLM 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BLM 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BLM 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BLM 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Blm 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Blm 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | BLM 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BLM 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BLM 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | blm 30 |
|
||
Str.4549 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | blm-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | blm 30 31 |
|
OneToOne | |
Dr.13183 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | mus309 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | him-6 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SGS1 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1380 30 |
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
703700 | Likely Benign: not provided | 90,769,593(+) |
TG/CA NM_000057.4(BLM):c.2555+7_2555+8inv |
INTRON | |
813653 | Uncertain Significance: Microcephaly; Bloom syndrome | 90,782,896(+) |
A/G NM_000057.4(BLM):c.2630A>G (p.Asp877Gly) |
MISSENSE | |
830239 | Uncertain Significance: Hereditary breast and ovarian cancer syndrome | 90,760,707(+) |
C/T NM_000057.4(BLM):c.1334C>T (p.Pro445Leu) |
MISSENSE | |
830240 | Likely Pathogenic: Hereditary breast and ovarian cancer syndrome | 90,804,361(+) |
T/C NM_000057.4(BLM):c.3751+2T>C |
SPLICE_DONOR_VARIANT,INTRON | |
830293 | Uncertain Significance: Hereditary breast and ovarian cancer syndrome; Bloom syndrome | 90,749,987(+) |
A/G NM_000057.4(BLM):c.719A>G (p.Asp240Gly) |
MISSENSE_VARIANT,FIVE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2673999 | CNV | deletion | 23128226 |
esv3581815 | CNV | loss | 25503493 |
esv3637233 | CNV | loss | 21293372 |
esv3637234 | CNV | loss | 21293372 |
nsv1045042 | CNV | gain | 25217958 |
nsv570397 | CNV | loss | 21841781 |
nsv94962 | CNV | deletion | 16902084 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bloom syndrome |
|
|
inherited cancer-predisposing syndrome |
|
|
cutaneous telangiectasia and cancer syndrome, familial |
|
|
tumor predisposition syndrome |
|
|
werner syndrome |
|
|