| Tag | Content |
|---|---|
| Uniprot ID | D3ZQW1 |
| Entrez ID | |
| Genbank protein ID | |
| Genbank nucleotide ID | |
| Ensembl protein ID | ENSRNOP00000015065 |
| Ensembl nucleotide ID | ENSRNOG00000011213 |
| Gene name | BLM RecQ-like helicase |
| Gene symbol | Blm |
| Organism | Rattus norvegicus |
| NCBI taxa ID | 10116 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | |
| Sequence | MAAVPLNNLQ EQLQRHSARK LKNQFSISKP KPSGFTFKKK TPEGDVSVVR TPVLSDKDVN 60 MSEALSYTEP PLHKPKQQSN IDGFFKNSPG GQQSKETCSE LSLPEVVQIP QDASCTTPKT 120 PAVKKPHVAI FKKLEFSSSA DSLSDWADID DFDVPASDAF VSLTRNPTTR VSTAKKLSSS 180 KRNFFKPPPR ASAVKADLTP SSPECLQVDL TKEQEEEADC LSRDVICIDT DPASEELLEK 240 DVQEGLSLDA RLGTERVDSA KKSHEDKAAF QSPQNALYFE HNDNDYDIDF VPPSPEEIIS 300 TASSSLKCSS MLKDLDDSDK EKDILSTSKD LSKPEEMTTP KSDLGTNEDC DAQQTSLQQQ 360 LIRVMEHICK LVDTVPIDEL KALTCGDKLL QQRDIRRKLL AEAGFNRNDV NLLGSLWRHR 420 PDSLDNTVQC DSCPVGHPGK ELNSPYLPSH SLSTEECLPT TASGKTGFSA TPKSLSERPP 480 LNSHLQKSFV SSNWAETPRT ESRTESTYFP GSVLTSTTVK DESKHVASGR DIEREVQASY 540 DIDNFNIDDF DDDDDDDWEN IMHNFSVSKS STAAYPPIKE GGPVKSLSER ISSAKAKFLP 600 VASTAQNKNL SESIQNCSDK FAQNLSSKNP KHEHFQSLNF PHTKEMMKIF RKKFGLHNFR 660 TNQLEAINAA LLGEDCFILM PTGGGKSLCY QLPACVSPGV TIVISPLRSL IVDQVQKLTS 720 FDIPATYLTG DKTDSEAANI YLQLSKKDPI IKLLYVTPEK VCASNRLIST LENLYERKLL 780 ARFVIDEAHC VSQWGHDFRQ DYKRMNMLRQ RFPSVPVMAL TATANPRVQK DILTQLKILR 840 PQVFSMSFNR HNLKYYVLPK KPKKVALDCL EWIRKHHPYD SGIIYCLSRK ECDTMADTLQ 900 REGLAALAYH AGLSDSARDE VQHKWINQDN CQVICATIAF GMGIDKPDVR FVVHASLPKS 960 VEGYYQESGR AGRDGEISHC VLFYTYHDVT RLKRLIMMEK DGNYHTRETH VNNLYSMVHY 1020 CENITECRRI QLLAYFGEKG FNPDFCKKHP DVSCDNCCKT KDYKTKDVTD DVKNIVRFVQ 1080 EHSSSPGTRN IGPAGRFTLN MLVDIFLGSK SAKVQSGIFG KGSAYSRHNA ERLFKKLILD 1140 KILDEDLYIN ANDQPIAYVM LGTKAHSVLS GHLKVDFMET ENSSSVKKQK AAVAHVSQRD 1200 EAVMKCLGEL ADVCKLLGKV FGVHYFNIFN TATLKKLAES LSSDPEVLLQ IDGVTEDKLE 1260 KYGAEIIPVL QKYAEWTLPA EGGSPGSRGS RRSTPEETEE EEAVSSHYFA NQTRNERKRK 1320 KVSASQKPKR RRTSYGGGFR AKGGSTTCRK PSSKSKFSGV TGSRSASCAS QATSAASRKL 1380 GIMAPPKPVN RPFLRPAYAF S 1401 |
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:0005694 | chromosome |
| GO:0000781 | chromosome, telomeric region |
| GO:0005737 | cytoplasm |
| GO:0005829 | cytosol |
| GO:0000800 | lateral element |
| GO:0001673 | male germ cell nucleus |
| GO:0000228 | nuclear chromosome |
| GO:0016363 | nuclear matrix |
| GO:0005730 | nucleolus |
| GO:0005634 | nucleus |
| GO:0016605 | PML body |
| GO:0045120 | pronucleus |
| GO:0032991 | protein-containing complex |
| GO:0005657 | replication fork |
| 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:0016887 | ATPase activity |
| GO:0000405 | bubble DNA binding |
| GO:0003677 | DNA binding |
| GO:0003678 | DNA helicase activity |
| GO:0008094 | DNA-dependent ATPase activity |
| 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:0004386 | helicase activity |
| GO:0042802 | identical protein 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:0046632 | alpha-beta T cell differentiation |
| GO:0072757 | cellular response to camptothecin |
| GO:0006974 | cellular response to DNA damage stimulus |
| GO:0035690 | cellular response to drug |
| GO:0072711 | cellular response to hydroxyurea |
| GO:0071479 | cellular response to ionizing radiation |
| GO:0051276 | chromosome organization |
| GO:0000729 | DNA double-strand break processing |
| GO:0032508 | DNA duplex unwinding |
| GO:0006310 | DNA recombination |
| GO:0006281 | DNA repair |
| GO:0006260 | DNA replication |
| GO:0006268 | DNA unwinding involved in DNA replication |
| GO:0000724 | double-strand break repair via homologous 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:0045950 | negative regulation of mitotic recombination |
| GO:0070244 | negative regulation of thymocyte apoptotic process |
| GO:0046641 | positive regulation of alpha-beta T cell proliferation |
| GO:1905168 | positive regulation of double-strand break repair via homologous recombination |
| GO:0045893 | positive regulation of transcription, DNA-templated |
| GO:0051259 | protein complex oligomerization |
| GO:0051260 | protein homooligomerization |
| GO:0051098 | regulation of binding |
| 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:1990414 | replication-born double-strand break repair via sister chromatid exchange |
| GO:0010165 | response to X-ray |
| GO:0000723 | telomere maintenance |
| 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 |