| Tag | Content |
|---|---|
| Uniprot ID | O88700; O88198; |
| Entrez ID | 12144 |
| Genbank protein ID | CAB10933.1; BAA32001.1; |
| Genbank nucleotide ID | NM_007550.4; NM_001042527.2; |
| Ensembl protein ID | ENSMUSP00000080062 |
| Ensembl nucleotide ID | ENSMUSG00000030528 |
| Gene name | Bloom syndrome protein homolog |
| Gene symbol | Blm |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:9840919). Participates in DNA replication and repair (By similarity). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:9840919). Negatively regulates sister chromatid exchange (SCE) (PubMed:9840919, PubMed:27010503). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution. Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction (By similarity). |
| Sequence | MAAVPLNNLQ EQLQRHSARK LNNQPSLSKP KSLGFTFKKK TSEGDVSVTS VSVVKTPALS 60 DKDVNVSEAF SFTESPLHKP KQQAKIEGFF KHFPGRQQSK GTCSEPSLPA TVQTAQDTLC 120 TTPKTPTAKK LPVAVFKKLE FSSSADSLSD WADMDDFDMS ASDAFASLAK NPATRVSTAQ 180 KMKKTKRNFF KPPPRKANAV KTDLTPPSPE CLQVDLTKES EEEEEEEEEA EGADCLSRDV 240 ICIDNDSASE ELTEKDTQES QSLKAHLGAE RGDSEKKSHE DEAVFHSVQN TEYFEHNDND 300 YDIDFVPPSP EEIISTASSS LKCSSMLKDL DDSDKEKGIL STSEELLSKP EEMTTHKSDA 360 GTSKDCDAQQ IRIQQQLIHV MEHICKLVDT VPTDELEALN CGTELLQQRN IRRKLLAEAG 420 FNGNDVRLLG SLWRHRPDSL DNTVQGDSCP VGHPNKELNS PYLLSHSPST EECLPTTTPG 480 KTGFSATPKN LFERPLLNSH LQKSFVSSNW AETPRMENRN ESTDFPGSVL TSTTVKAQSK 540 QAASGWNVER HGQASYDIDN FNIDDFDDDD DDDDWENIMH NFPASKSSTA TYPPIKEGGP 600 VKSLSERISS AKAKFLPVVS TAQNTNLSES IQNCSDKLAQ NLSSKNPKHE HFQSLNFPHT 660 KEMMKIFHKK FGLHNFRTNQ LEAINAALLG EDCFILMPTG GGKSLCYQLP ACVSPGVTIV 720 ISPLRSLIVD QVQKLTSFDI PATYLTGDKT DSEAANIYLQ LSKKDPIIKL LYVTPEKVCA 780 SNRLISTLEN LYERKLLARF VIDEAHCVSQ WGHDFRQDYK RMNMLRQKFP SVPVMALTAT 840 ANPRVQKDIL TQLKILRPQV FSMSFNRHNL KYYVLPKKPK KVAFDCLEWI RKHHPYDSGI 900 IYCLSRRECD TMADTLQREG LAALAYHAGL SDSARDEVQH KWINQDNCQV ICATIAFGMG 960 IDKPDVRFVI HASLPKSMEG YYQESGRAGR DGEISHCVLF YTYHDVTRLK RLIMMEKDGN 1020 YHTKETHVNN LYSMVHYCEN ITECRRIQLL AYFGEKGFNP DFCKKYPDVS CDNCCKTKDY 1080 KTKDVTDDVK NIIRFVQEHS SSPGTRNIGP AGRFTLNMLV DIFLGSKSAK VKSGIFGKGT 1140 TYSRHNAERL FKKLILDKIL DEDLYINAND QPIAYVMLGT KAHSVLSGHL KVDFMETENS 1200 SSIKKQKALV AKVSQREEVV KKCLGELTEV CKLLGKVFGV HYFNIFNTAT LKKLAESLSS 1260 DPEVLLQIDG VTEDKLEKYG AEVIPVLQKY SEWTVPAEDG SPGARGAPED TEEEEEEAPV 1320 SSHYFANQTR NERKRKKMSA THKPKRRRTS YGGFRAKGGS TTCRKTTSKS KFYGVTGSRS 1380 ASCASQATSS ASRKLGIMAP PKPVNRTFLR PSYAFS 1416 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | BLM | 100685609 | E2RS76 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | BLM | A0A452E3H5 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | BLM | 641 | P54132 | CL/P | Homo sapiens | Publication | More>> | |
| 1:1 ortholog | Blm | 12144 | O88700 | Mus musculus | Prediction | More>> | ||
| 1:1 ortholog | BLM | A0A2I3SP55 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | BLM | A0A5G2R540 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | BLM | 100345123 | G1T6H2 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Blm | D3ZQW1 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000400 | four-way junction DNA binding | ISS |
| GO:0000400 | four-way junction DNA binding | ISO |
| GO:0000403 | Y-form DNA binding | ISO |
| GO:0000405 | bubble DNA binding | ISO |
| GO:0002039 | p53 binding | ISO |
| GO:0003677 | DNA binding | ISS |
| GO:0003677 | DNA binding | ISO |
| GO:0003678 | DNA helicase activity | ISS |
| GO:0003678 | DNA helicase activity | ISO |
| GO:0003697 | single-stranded DNA binding | ISS |
| GO:0003697 | single-stranded DNA binding | ISO |
| GO:0004386 | helicase activity | ISO |
| GO:0005515 | protein binding | IPI |
| GO:0005524 | ATP binding | ISS |
| GO:0005524 | ATP binding | ISO |
| GO:0008094 | DNA-dependent ATPase activity | ISO |
| GO:0008270 | zinc ion binding | ISS |
| GO:0008270 | zinc ion binding | ISO |
| GO:0009378 | four-way junction helicase activity | ISS |
| GO:0009378 | four-way junction helicase activity | ISO |
| GO:0009378 | four-way junction helicase activity | IBA |
| GO:0016887 | ATPase activity | ISO |
| GO:0036310 | annealing helicase activity | ISO |
| GO:0042803 | protein homodimerization activity | ISS |
| GO:0042803 | protein homodimerization activity | ISO |
| GO:0043138 | 3'-5' DNA helicase activity | IBA |
| GO:0043138 | 3'-5' DNA helicase activity | IDA |
| GO:0051880 | G-quadruplex DNA binding | ISO |
| GO:0061749 | forked DNA-dependent helicase activity | ISS |
| GO:0061749 | forked DNA-dependent helicase activity | ISO |
| GO:0061821 | telomeric D-loop binding | ISO |
| GO:1905773 | 8-hydroxy-2'-deoxyguanosine DNA binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity | ISO |
| GO:0000723 | telomere maintenance | IGI |
| GO:0000723 | telomere maintenance | IBA |
| GO:0000724 | double-strand break repair via homologous recombination | IBA |
| GO:0000729 | DNA double-strand break processing | ISS |
| GO:0000729 | DNA double-strand break processing | ISO |
| GO:0000733 | DNA strand renaturation | IEA |
| GO:0006260 | DNA replication | IGI |
| GO:0006260 | DNA replication | IMP |
| GO:0006268 | DNA unwinding involved in DNA replication | IBA |
| GO:0006281 | DNA repair | IDA |
| GO:0006281 | DNA repair | IBA |
| GO:0006310 | DNA recombination | IBA |
| GO:0006974 | cellular response to DNA damage stimulus | ISS |
| GO:0006974 | cellular response to DNA damage stimulus | ISO |
| GO:0007095 | mitotic G2 DNA damage checkpoint | ISO |
| GO:0010165 | response to X-ray | ISO |
| GO:0031297 | replication fork processing | ISO |
| GO:0032508 | DNA duplex unwinding | ISO |
| GO:0032508 | DNA duplex unwinding | IBA |
| GO:0035690 | cellular response to drug | IGI |
| GO:0044806 | G-quadruplex DNA unwinding | ISO |
| GO:0044806 | G-quadruplex DNA unwinding | IBA |
| GO:0044806 | G-quadruplex DNA unwinding | IGI |
| GO:0044806 | G-quadruplex DNA unwinding | IMP |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISO |
| GO:0045910 | negative regulation of DNA recombination | ISO |
| GO:0045950 | negative regulation of mitotic recombination | IMP |
| GO:0045950 | negative regulation of mitotic recombination | IGI |
| GO:0046632 | alpha-beta T cell differentiation | IMP |
| GO:0046641 | positive regulation of alpha-beta T cell proliferation | IMP |
| GO:0051098 | regulation of binding | IDA |
| GO:0051259 | protein complex oligomerization | ISS |
| GO:0051259 | protein complex oligomerization | ISO |
| GO:0051260 | protein homooligomerization | ISS |
| GO:0051260 | protein homooligomerization | ISO |
| GO:0051276 | chromosome organization | IMP |
| GO:0051782 | negative regulation of cell division | ISO |
| GO:0061820 | telomeric D-loop disassembly | ISO |
| GO:0070244 | negative regulation of thymocyte apoptotic process | IGI |
| GO:0070244 | negative regulation of thymocyte apoptotic process | IMP |
| GO:0071479 | cellular response to ionizing radiation | ISS |
| GO:0071479 | cellular response to ionizing radiation | ISO |
| GO:0072711 | cellular response to hydroxyurea | ISS |
| GO:0072711 | cellular response to hydroxyurea | ISO |
| GO:0072757 | cellular response to camptothecin | ISS |
| GO:0072757 | cellular response to camptothecin | ISO |
| GO:0090329 | regulation of DNA-dependent DNA replication | ISS |
| GO:0090329 | regulation of DNA-dependent DNA replication | ISO |
| GO:1905168 | positive regulation of double-strand break repair via homologous recombination | IGI |
| GO:1990414 | replication-born double-strand break repair via sister chromatid exchange | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000228 | nuclear chromosome | ISS |
| GO:0000228 | nuclear chromosome | ISO |
| GO:0000781 | chromosome, telomeric region | IMP |
| GO:0000800 | lateral element | ISO |
| GO:0001673 | male germ cell nucleus | IDA |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IBA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005654 | nucleoplasm | TAS |
| GO:0005657 | replication fork | IDA |
| GO:0005657 | replication fork | IMP |
| GO:0005694 | chromosome | IBA |
| GO:0005730 | nucleolus | ISO |
| GO:0005737 | cytoplasm | IDA |
| GO:0005737 | cytoplasm | IBA |
| GO:0005829 | cytosol | ISO |
| GO:0016363 | nuclear matrix | ISO |
| GO:0016605 | PML body | ISO |
| GO:0045120 | pronucleus | IDA |
| GO:0000781 | chromosome, telomeric region | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1640170 | Cell Cycle | IEA |
| R-MMU-212436 | Generic Transcription Pathway | IEA |
| R-MMU-2990846 | SUMOylation | IEA |
| R-MMU-3108214 | SUMOylation of DNA damage response and repair proteins | IEA |
| R-MMU-3108232 | SUMO E3 ligases SUMOylate target proteins | IEA |
| R-MMU-3700989 | Transcriptional Regulation by TP53 | IEA |
| R-MMU-392499 | Metabolism of proteins | IEA |
| R-MMU-5633007 | Regulation of TP53 Activity | IEA |
| R-MMU-5685938 | HDR through Single Strand Annealing (SSA) | IEA |
| R-MMU-5685942 | HDR through Homologous Recombination (HRR) | IEA |
| R-MMU-5693532 | DNA Double-Strand Break Repair | IEA |
| R-MMU-5693537 | Resolution of D-Loop Structures | IEA |
| R-MMU-5693538 | Homology Directed Repair | IEA |
| R-MMU-5693554 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) | IEA |
| R-MMU-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) | IEA |
| R-MMU-5693568 | Resolution of D-loop Structures through Holliday Junction Intermediates | IEA |
| R-MMU-5693579 | Homologous DNA Pairing and Strand Exchange | IEA |
| R-MMU-5693607 | Processing of DNA double-strand break ends | IEA |
| R-MMU-5693616 | Presynaptic phase of homologous DNA pairing and strand exchange | IEA |
| R-MMU-597592 | Post-translational protein modification | IEA |
| R-MMU-6804756 | Regulation of TP53 Activity through Phosphorylation | IEA |
| R-MMU-69473 | G2/M DNA damage checkpoint | IEA |
| R-MMU-69481 | G2/M Checkpoints | IEA |
| R-MMU-69620 | Cell Cycle Checkpoints | IEA |
| R-MMU-73857 | RNA Polymerase II Transcription | IEA |
| R-MMU-73894 | DNA Repair | IEA |
| R-MMU-74160 | Gene expression (Transcription) | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0007 | Acetylation |
| KW-0067 | ATP-binding |
| KW-0227 | DNA damage |
| KW-0234 | DNA repair |
| KW-0235 | DNA replication |
| KW-0238 | DNA-binding |
| KW-0347 | Helicase |
| KW-0378 | Hydrolase |
| KW-1017 | Isopeptide bond |
| KW-0479 | Metal-binding |
| KW-0547 | Nucleotide-binding |
| KW-0539 | Nucleus |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0832 | Ubl conjugation |
| KW-0862 | Zinc |
| InterPro ID | InterPro Term |
|---|---|
| IPR012532 | BDHCT |
| IPR032439 | BDHCT_assoc |
| IPR032437 | BLM_N |
| IPR011545 | DEAD/DEAH_box_helicase_dom |
| IPR002464 | DNA/RNA_helicase_DEAH_CS |
| IPR004589 | DNA_helicase_ATP-dep_RecQ |
| IPR014001 | Helicase_ATP-bd |
| IPR001650 | Helicase_C |
| IPR010997 | HRDC-like_sf |
| IPR002121 | HRDC_dom |
| IPR027417 | P-loop_NTPase |
| IPR032284 | RecQ_Zn-bd |
| IPR018982 | RQC_domain |
| IPR036388 | WH-like_DNA-bd_sf |
| IPR036390 | WH_DNA-bd_sf |