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Blm |
Protein FULL name:
Bloom syndrome protein homolog isoform 2 [Mus musculus].
Blm (Mus musculus) is product of expression of Blm gene.
FUNCTION: Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
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. Interacts with ubiquitinated FANCD2. Interacts with RMI complex. Interacts directly with RMI1 component of RMI complex (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Highly expressed in testis 12-14 days after birth (corresponding to the pachytene phase) and at much lower levels in brain, heart, liver, lung, thymus, kidney and spleen.
PTM: Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex, as well as the presence of RMI1 (By similarity).
SIMILARITY: Belongs to the helicase family. RecQ subfamily.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
SIMILARITY: Contains 1 HRDC domain.
| NCBI GenPept GI number(s): |
110225360 |
| Species: | Mus musculus |
Links to other databases:
| Database | ID | Link |
| Uniprot | O88700 |
O88700 |
| PFAM: | - |
O88700 (Link - using uniprot id) |
| InterPro: | - |
O88700 (Link - using uniprot id) |
| CATH: | - | - |
| SCOP: | - | - |
| PDB: | - | - |
Protein sequence:
|
MAAVPLNNLQEQLQRHSARKLNNQPSLSKPKSLGFTFKKKTSEGDVSVTS VSVVKTPALSDKDVNVSEAFSFTESPLHKPKQQAKIEGFFKHFPGRQQSK GTCSEPSLPATVQTAQDTLCTTPKTPTAKKLPVAVFKKLEFSSSADSLSD WADMDDFDMSASDAFASLAKNPATRVSTAQKMKKTKRNFFKPPPRKANAV KTDLTPPSPECLQVDLTKESEEEEEEEEEAEGADCLSRDVICIDNDSASE ELTEKDTQESQSLKAHLGAERGDSEKKSHEDEAVFHSVQNTEYFEHNDND YDIDFVPPSPEEIISTASSSLKCSSMLKDLDDSDKEKGILSTSEELLSKP EEMTTHKSDAGTSKDCDAQQIRIQQQLIHVMEHICKLVDTVPTDELEALN CGTELLQQRNIRRKLLAEAGFNGNDVRLLGSLWRHRPDSLDNTVQGDSCP VGHPNKELNSPYLLSHSPSTEECLPTTTPGKTGFSATPKNLFERPLLNSH LQKSFVSSNWAETPRMENRNESTDFPGSVLTSTTVKAQSKQAASGWNVER HGQASYDIDNFNIDDFDDDDDDDDWENIMHNFPASKSSTATYPPIKEGGP VKSLSERISSAKAKFLPVVSTAQNTNLSESIQNCSDKLAQNLSSKNPKHE HFQSLNFPHTKEMMKIFHKKFGLHNFRTNQLEAINAALLGEDCFILMPTG GGKSLCYQLPACVSPGVTIVISPLRSLIVDQVQKLTSFDIPATYLTGDKT DSEAANIYLQLSKKDPIIKLLYVTPEKVCASNRLISTLENLYERKLLARF VIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKDIL TQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGI IYCLSRRECDTMADTLQREGLAALAYHAGLSDSARDEVQHKWINQDNCQV ICATIAFGMGIDKPDVRFVIHASLPKSMEGYYQESGRAGRDGEISHCVLF YTYHDVTRLKRLIMMEKDGNYHTKETHVNNLYSMVHYCENITECRRIQLL AYFGEKGFNPDFCKKYPDVSCDNCCKTKDYKTKDVTDDVKNIIRFVQEHS SSPGTRNIGPAGRFTLNMLVDIFLGSKSAKVKSGIFGKGTTYSRHNAERL FKKLILDKILDEDLYINANDQPIAYVMLGTKAHSVLSGHLKVDFMETENS SSIKKQKALVAKVSQREEVVKKCLGELTEVCKLLGKVFGVHYFNIFNTAT LKKLAESLSSDPEVLLQIDGVTEDKLEKYGAEVIPVLQKYSEWTVPAEDG SPGARGAPEDTEEEEEEAPVSSHYFANQTRNERKRKKMSATHKPKRRRTS YGGFRAKGGSTTCRKTTSKSKFYGVTGSRSASCASQATSSASRKLGIMAP PKPVNRTFLRPSYAFS |
Blm (Mus musculus) belongs to following protein families:
References:
| Title | Authors | Journal |
| cDNA cloning of mouse BLM gene, the homologue to human Bloom's syndrome gene, which is highly expressed in the testis at the mRNA level. | Seki T, Wang WS, Okumura N, Seki M, Katada T, Enomoto T | Biochim Biophys Acta July 9, 1998 |
| Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein. | Bahr A, De Graeve F, Kedinger C, Chatton B | Oncogene Nov. 19, 1998 |
Last modification of this entry: Oct. 6, 2010.
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