Printable factfile
Gene Information
Names
HUGO name: BLM
Alias(es):
- BS
- RECQ2
- RECQL3
- Bloom's syndrome protein
- RecQ protein-like 3
- DNA helicase, RecQ-like, type 2
Localization
Reference sequences
Chromosomal location
Maps
Variations / Mutations
Other gene-based resources
Protein Information
Description
Protein function:
Participates in DNA replication and may participate in repair. Exhibits a Magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction.
Subunit:
Part of the brca1-associated genome surveillance complex (basc), which contains brca1, msh2, msh6, mlh1, atm, blm, pms2 and the rad50-mre11-nbs1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains.
Subcellular location:
Nuclear.
Other features
Other related resourses:
- InterPro: IPR001410; DEAD
- InterPro: IPR002464; DEAH_box
- InterPro: IPR002121; HRDC
- InterPro: IPR001650; Helicase_C
- InterPro: IPR004589; RecQ
- Pfam: PF00270; DEAD
- Pfam: PF00271; helicase_C
- Pfam: PF00570; HRDC
- SMART: SM00487; DEXDc
- SMART: SM00490; HELICc
- SMART: SM00341; HRDC
- PROSITE: PS00690; DEAH_ATP_HELICASE
Expression
Expression pattern for human
| Tissue | Expression (%) | Clones |
|---|---|---|
| melanoma (cell line) | 34.71 | 1:1599 |
| leukopheresis | 12.18 | 1:4557 |
| B-cells | 6.71 | 2:16533 |
| testis, cell line | 6.54 | 2:16978 |
| eye | 5.05 | 4:43934 |
| blood, lymphocyte | 4.90 | 1:11328 |
| tonsil, enriched for germinal center B-cells | 4.56 | 3:36522 |
| blood | 4.39 | 1:12646 |
| lymph | 3.45 | 4:64395 |
| pool, lung+testis+B-cell | 2.99 | 3:55714 |