| Tag | Content |
|---|---|
| Uniprot ID | E2RS76 |
| Entrez ID | 100685609 |
| Genbank protein ID | |
| Genbank nucleotide ID | XM_003434379.3 |
| Ensembl protein ID | ENSCAFP00000018251 |
| Ensembl nucleotide ID | ENSCAFG00000012385 |
| Gene name | BLM RecQ like helicase |
| Gene symbol | BLM |
| Organism | Canis lupus familiaris |
| NCBI taxa ID | 9615 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | |
| Sequence | MAAVPQNNLQ EQLERHSARK LSNKLSPSKP KSSVFTFKKK TSANNVSVTS VSVAKTPVLN 60 DKDVNVTEAF PFSEPLPHAT SQQTRPSDLK NTPAGQQTRR TVSKPLLPDL SLVSRVLCNT 120 QNTPIVKKSS NATFKKLEFS SSSDSFVTIN DWDDMDDFDT SGNSKLVTPC KNHFVRVSTA 180 QKSKKPKRNF LKAQLPQANT VKADLTPSSF ESKQACLTKK QNDDSEWFSN DVICIDDDPN 240 PEELIHGDPQ ESHSLKTHLE EERDSEKKNW EETELCSLEK SPCVELDEDD YDTDFVPPSP 300 EVISASSSSL KCFSMLKDLD ASGTEDGPST SEDLPTPKGM TTQQPNQETS TNCDARQPSL 360 QQQLIHVMDQ ICKLVDTIPD DELKALTCGN ALHQQRDIRR KLLAEADFNT SDASVLASVW 420 TRGPDSLGSP VEDMASLSAP DVFPKGNSHP TGNSVKELNF PHLPSHSSST GECLLATTPG 480 KTGFSGTMKN PSERLLFSPH LQKSFVSSNW AETPRIEKRN ESSYFLGNVL TSTAVRDQNK 540 RAAPINDLEI QAACDIDNFD IDGFDDDDDW EDIMHDLAAS RSSTAACLPI KEGRPVKPVS 600 ERISSAKTNC LPVASTAQNK NSESIQNYTD KSAQNLASRN LKHERFQSLS FPHTKEMMKI 660 FHKKFGLHNF RTNQLEAINA ALLGEDCFIL MPTGGGKSLC YQLPACVSPG VTIVISPLRS 720 LIVDQVQKLT SLDIPATYLT GDKTDSEATS IYLQLSKKDP IIKLLYVTPE KVCASNRLLS 780 TLENLYERKL LARFVIDEAH CVSQWGHDFR QDYKRMNMLR QKFPSVPVMA LTATANPRVQ 840 KDILTQLKIL QPQVFSMSFN RHNLKYYVLP KKPKKVAFDC LEWIRKYHPH DSGIIYCLSR 900 RECDTMADTL QKDGLAALAY HAGLSDSARD EVQHKWINQD GCQVICATIA FGMGIDKPDV 960 RFVIHASLPK SVEGYYQESG RAGRDGEISH CLLFYTYHDV TRLKRLILME KDGNRHTRET 1020 HFNNLYSMVH YCENITECRR IQLLAYFGES GFNPDFCKKY PDVSCDNCCK TKDYKTRDVT 1080 DDVKNIVRFV QEHSSSQGTR IKNQLGPSGR FTMNMLVDIF LGSKSAKIQS GIFGQGSTYS 1140 RHNAERLFKK LILDKILDED LYINANDQPI AYVMPGNKAQ TVLNGHLKVD FIETENSTSI 1200 KKQKAALVAK MSQREEVVKK CLGELTEVCK SLGKVFGVHY FNIFNTVTLK KLAESLSSDP 1260 EVLLQIDGVT EDKLEKYGAE VIPILQKYSE WTLPADDGSP RISPSSSRST RRSAPEEFDE 1320 ETSVSSHYFA NKTKNERKRK RMSATQRSKR RRTGFGGSKT KGGSTACRKT SSKSKSSNIF 1380 GPHSSLHGSQ AASGAARKLG IMAPPKPINR PFLKPSYAFS |
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 |