| Tag | Content |
|---|---|
| Uniprot ID | Q75NR7; Q76MT1; Q99PV9; |
| Entrez ID | 79456 |
| Genbank protein ID | BAB32696.1; BAD11131.1; BAD14289.1; |
| Genbank nucleotide ID | NM_058214.3 |
| Ensembl protein ID | |
| Ensembl nucleotide ID | |
| Gene name | ATP-dependent DNA helicase Q4 |
| Gene symbol | Recql4 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 15703196 |
| Functional description | DNA-dependent ATPase (By similarity). May play a role in development of the palate and the limbs. May modulate chromosome segregation. |
| Sequence | MERLATVRAR LQEWERAFAR LHGRRPAKGD VEAAPEETRA LYREYRNLKQ AVRQADDRHR 60 VLEQSLAEAA EEAQEPSCWG PHLSRAATQN TQSMPKQSLL SSVQDYGKRL KANLKNTTQT 120 GPTQSRKLQL QKRSLSTVPA PRPPGSKTES PCPDEADDAL PRVPEPRPRL GQLQQLRSSL 180 SRRLTSLDPG WLERCHNRVS DLLEVPGACG LDLSAEESQP QMSGKVNIAD PDIQSEVSVQ 240 SPEAIAQQPA QVLSQSPKSI NSKGRKRKWN EKGEDFAQDQ PSSGAGPLSE GARATVHGQD 300 PPGEPTQVNV PQPCNSSNQA RTEKAKGTTH LHASPRPASL DRGNYIRLNM KNKRFVRVGA 360 NRGRLLRKQV WKQKWKKKQA AFGGSGPRAT DKDTCFRCGQ FGHWASQCSQ PGPTLTVQEE 420 GDRDDKQPIS TLEEVAQRTG TASCHHSGEE TQPAAPELQV PHCPTPMSPL YPPGPLGQVA 480 ETPAEVFQAL ERLGYRAFRP GQERAIMRIL SGISTLLVLP TGAGKSLCYQ LPALLYAQRS 540 PCLTLVVSPL LSLMDDQVSD LPSCLKAACL HSGMTKKQRE SVLKKVRAAQ VHVLIVSPEA 600 LVGCGARGPG SLPQAAQLPP IAFACIDEVH CLSQWSHNFR PCYLRVCKVL REHMGVRCFL 660 GLTATATRST ARDVAQHLGI AGEFELSGSA NIPANLHLSV SMDRDSDQAL VTLLQGDRFR 720 TLDSVIIYCT RERIQNGWLA LLRTCLSMVG DSRPRGCGPE AIAEAYHAGM SSQERRRVQQ 780 AFMRGHLRMV VATVAFGMGL DRPDVRAVLH LGLPPSFESY VQAIGRAGRD GKPAHCHLFM 840 HPQGEDLWEL RRHAHADSTD FLAVKRLVQR VFPPCTCSQR PVSKSSPEEV KEHSGQQTYP 900 VLGQACLGHE RALPVQSTVQ ALDMTEEAIE TLLCYLELHP RHWLELLPWT YAQCHLHCLG 960 GSAQLQALAH RCPPLAACQA KWPPKDTSQG RSSLEFGVVE LADSMGWKLA SVRQALHQLK 1020 WDPEPKKGAA QGTGVLVKFS ELAFHLHSRG DLTDEEKDQI CDFLYNRVQA REHKALAHLH 1080 QMSKAFRSVA FPSCGPCLEQ SNEEHSNQVK TLVSYYFEEE EEEEETMTDT QGPKPGQTQL 1140 QDWEDQIRRD VRQLLSLRPE ERFSGRAVAR IFHGIASPCY PAQVYGLDRR FWRKYLHLDF 1200 HALMHLATEE LLLRGR 1216 |
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.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000405 | bubble DNA binding | ISO |
| GO:0005524 | ATP binding | ISO |
| GO:0008270 | zinc ion binding | IEA |
| GO:0009378 | four-way junction helicase activity | IBA |
| GO:0032357 | oxidized purine DNA binding | ISO |
| GO:0036310 | annealing helicase activity | ISO |
| GO:0043138 | 3'-5' DNA helicase activity | ISO |
| GO:0043138 | 3'-5' DNA helicase activity | IBA |
| GO:0061821 | telomeric D-loop binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000723 | telomere maintenance | ISO |
| GO:0000723 | telomere maintenance | IBA |
| GO:0000724 | double-strand break repair via homologous recombination | IBA |
| GO:0000733 | DNA strand renaturation | ISO |
| GO:0001501 | skeletal system development | IMP |
| GO:0006260 | DNA replication | ISS |
| GO:0006260 | DNA replication | ISO |
| GO:0006268 | DNA unwinding involved in DNA replication | IBA |
| GO:0006281 | DNA repair | IBA |
| GO:0006310 | DNA recombination | IBA |
| GO:0008284 | positive regulation of cell population proliferation | IMP |
| GO:0032508 | DNA duplex unwinding | ISO |
| GO:0032508 | DNA duplex unwinding | IBA |
| GO:0043473 | pigmentation | IMP |
| GO:0045875 | negative regulation of sister chromatid cohesion | IMP |
| GO:0048705 | skeletal system morphogenesis | IMP |
| GO:0061820 | telomeric D-loop disassembly | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000781 | chromosome, telomeric region | ISO |
| GO:0005634 | nucleus | IBA |
| GO:0005694 | chromosome | IBA |
| GO:0005737 | cytoplasm | IBA |
| Reactome ID | Reactome Term | Evidence |
|---|