| Tag | Content |
|---|---|
| Uniprot ID | G1T6H2 |
| Entrez ID | 100345123 |
| Genbank protein ID | |
| Genbank nucleotide ID | XM_008275317.2 |
| Ensembl protein ID | ENSOCUP00000012010 |
| Ensembl nucleotide ID | ENSOCUG00000013969 |
| Gene name | BLM RecQ like helicase |
| Gene symbol | BLM |
| Organism | Oryctolagus cuniculus |
| NCBI taxa ID | 9986 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | |
| Sequence | MAAVPQNNLQ EQLELHSARK LHNRLNLSKP KSSGFTFKKK ASSGNSASVT SVSAARTPVL 60 SDKDVNVTEG SSFSEPQACP AGPPARINDF FKNAPAGLQS RGAGSTPLLP DVSQTPQEAS 120 CTPRLAPAAK TPRDTVFKKL DFSSSLDSLG ALNGWDDMDD FDTSGTPKAF AASPRKPVAR 180 VSTAQKSKRA KRNFCKAQLK KADAAEADLT PASAASKPVE LAGAGKGDCD GVGGGVICID 240 DDDGPVSQVL ILDSQESHSL ETHLGGERDH PEDKKVLDTV ELHSAEEVPC IELEDDDYDI 300 DFVPPSPEEE VSSATSSSLK CSSMLKDLDT PHREKDVLSP AQDLLSKPEK LTPQEPDPET 360 TAGCEARPSP VQRRLLQVME HICVLVDAIP AEALRALEGG SELLRQRDTR RKLLAEADFT 420 RNGASLLGSL WEVGPDSLGS PVDGESCSVG DSVKAPTFPH LPSNSLSNGK CLTTPPGKTE 480 FSAPTKHLSE GPSFSSHLHK SFVSGNWADT PRTGQRNGRC YFPENVLTST AVRDQSKHRA 540 SASDTARDAR AACDVDDFDI DDFDDDDDWE DIMHSLAANK SSTAAYRPIR EGGPVRSASE 600 RISSAKTSCL PMVSTAHRRH ISESVQNDAD KPAQSLASGN LKHERFQSLN FPHTKDMMKI 660 FHKKFGLHNF RTNQLEAINA ALLGEDCFIL MPTGGGKSLC YQLPACISPG VTIVISPLRS 720 LIVDQVQKLT SLDIPATYLT GDKTDSEAAS IYLQLSKKDP IIKLLYVTPE KVCASNRLIS 780 TLENLYERKL LARFVIDEAH CVSQWGHDFR QDYKRMNMLR QKFPSVPVMA LTATANPRVQ 840 KDILTQLKIV RPQVFSMSFN RHNLKYYVLP KKPKKVAFDC LEWIRKHHPY DSGIIYCLSR 900 RECDTMADTL QKDGLAALAY HAGLSDSARD EVQHKWINQD GCQVICATIA FGMGIDKPDV 960 RFVIHASLPK SVEGYYQESG RAGRDGEISH CVLFYTYHDV TRLKRLILME KDGNQHTRET 1020 HFNNLYSMVH YCENITECRR IQLLAYFGEN GFNPNFCKKY SDVSCDNCCK TKDFKTRDVT 1080 DEVKNIVRFV QEHSSSQGAR PARPLGPSGR FTMNMLVDIF LGSKSAKIQS GIFGKGSAYS 1140 RHNAERLFKK LILDKILDEE LYINANDQAI AYVMPGNKAQ TLLSGHLKVD FMETENSSSV 1200 KKQKALVAKV SQREEVVKKC LGELTEVCKS LGKVFGVHYF NIFSTATLRR LAESLSSDPE 1260 VLLQIDGVTE DKLEKYGAEV IPILQKYSEW TLPAEDASPR PSPPSRRDSG RSAPEAPEED 1320 APVSSRYFAN TARNERRKRK LPAPQRAKRR RTSHGGCPAK GGSTARRKPP SKTKPSCAAP 1380 RGSPAPTGGP GKLGLLAPPK PVNRPFLRPS FAVC 1414 |
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 |
|---|---|
| GO:0000781 | chromosome, telomeric region |
| GO:0005829 | cytosol |
| GO:0000800 | lateral element |
| GO:0016363 | nuclear matrix |
| GO:0005730 | nucleolus |
| GO:0016605 | PML body |
| GO:0032991 | protein-containing complex |
| GO:0043138 | 3'-5' DNA helicase activity |
| GO:1905773 | 8-hydroxy-2'-deoxyguanosine DNA binding |
| GO:0036310 | annealing helicase activity |
| GO:0005524 | ATP binding |
| GO:0000405 | bubble DNA binding |
| GO:0061749 | forked DNA-dependent helicase activity |
| GO:0000400 | four-way junction DNA binding |
| GO:0009378 | four-way junction helicase activity |
| GO:0051880 | G-quadruplex DNA binding |
| GO:0002039 | p53 binding |
| GO:0042803 | protein homodimerization activity |
| GO:0003697 | single-stranded DNA binding |
| GO:0061821 | telomeric D-loop binding |
| GO:0000403 | Y-form DNA binding |
| GO:0008270 | zinc ion binding |
| GO:0072757 | cellular response to camptothecin |
| GO:0072711 | cellular response to hydroxyurea |
| GO:0071479 | cellular response to ionizing radiation |
| GO:0000729 | DNA double-strand break processing |
| GO:0006310 | DNA recombination |
| GO:0044806 | G-quadruplex DNA unwinding |
| GO:0007095 | mitotic G2 DNA damage checkpoint |
| GO:0051782 | negative regulation of cell division |
| GO:0045910 | negative regulation of DNA recombination |
| GO:0045893 | positive regulation of transcription, DNA-templated |
| GO:0051260 | protein homooligomerization |
| GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity |
| GO:0090329 | regulation of DNA-dependent DNA replication |
| GO:0031297 | replication fork processing |
| GO:0010165 | response to X-ray |
| GO:0061820 | telomeric D-loop disassembly |
| Keyword ID | Keyword Term |
|---|---|
| KW-1185 | Reference proteome |
| 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 |