Gene
blm
- ID
- ZDB-GENE-070702-5
- Name
- BLM RecQ like helicase
- Symbol
- blm Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have 3'-5' DNA helicase activity and four-way junction helicase activity. Involved in negative regulation of mitotic recombination. Predicted to localize to chromosome; cytoplasm; and nucleus. Human ortholog(s) of this gene implicated in Bloom syndrome. Is expressed in several structures, including otic vesicle; pericardial region; presumptive neural retina; retina; and ventricular system. Orthologous to human BLM (BLM RecQ like helicase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bloom syndrome | Alliance | Bloom syndrome | 210900 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR002464 | DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site |
| Domain | IPR001650 | Helicase, C-terminal domain-like |
| Domain | IPR002121 | HRDC domain |
| Domain | IPR011545 | DEAD/DEAH box helicase domain |
| Domain | IPR012532 | BDHCT |
| Domain | IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
| Domain | IPR018982 | RQC domain |
| Domain | IPR032284 | ATP-dependent DNA helicase RecQ, zinc-binding domain |
| Domain | IPR032437 | RecQ-like DNA helicase BLM, N-terminal domain |
| Family | IPR004589 | DNA helicase, ATP-dependent, RecQ type |
| Homologous_superfamily | IPR010997 | HRDC-like superfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036388 | Winged helix-like DNA-binding domain superfamily |
| Homologous_superfamily | IPR036390 | Winged helix DNA-binding domain superfamily |
| Homologous_superfamily | IPR044876 | HRDC domain superfamily |
Domain Details Per Protein
| Protein | Length | ATP-dependent DNA helicase RecQ, zinc-binding domain | BDHCT | DEAD/DEAH box helicase domain | DNA helicase, ATP-dependent, RecQ type | DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site | Helicase, C-terminal domain-like | Helicase superfamily 1/2, ATP-binding domain | HRDC domain | HRDC domain superfamily | HRDC-like superfamily | P-loop containing nucleoside triphosphate hydrolase | RecQ-like DNA helicase BLM, N-terminal domain | RQC domain | Winged helix DNA-binding domain superfamily | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M6YUA3
|
1450 | |||||||||||||||
|
UniProtKB:E7EZY7
|
1420 | |||||||||||||||
|
UniProtKB:A0A8M6YW51
|
1439 |
Interactions and Pathways
No data available
Plasmids
No data available