RECQL4
Summary: The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| RecQ like helicase 4 | MIM:603780 | Ensembl:ENSG00000160957 | HGNC:HGNC:9949 | PA34316 | 8q24.3 |
GO terms in RECQL4
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0000781 | chromosome, telomeric region |
| CC | IMP | GO:0000781 | chromosome, telomeric region |
| CC | IBA | GO:0005634 | nucleus |
| CC | IBA | GO:0005694 | chromosome |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | HDA | GO:0016020 | membrane |
| BP | IMP | GO:0000723 | telomere maintenance |
| BP | IBA | GO:0000724 | double-strand break repair via homologous recombination |
| BP | IDA | GO:0000733 | DNA strand renaturation |
| BP | IBA | GO:0006260 | DNA replication |
| BP | IDA | GO:0006260 | DNA replication |
| BP | IMP | GO:0006260 | DNA replication |
| BP | IBA | GO:0006281 | DNA repair |
| BP | TAS | GO:0006281 | DNA repair |
| BP | IBA | GO:0006284 | base-excision repair |
| BP | IBA | GO:0006310 | DNA recombination |
| BP | TAS | GO:0007275 | multicellular organism development |
| BP | IBA | GO:0008284 | positive regulation of cell proliferation |
| BP | IBA | GO:0010971 | positive regulation of G2/M transition of mitotic cell cycle |
| BP | IBA | GO:0032508 | DNA duplex unwinding |
| BP | IDA | GO:0032508 | DNA duplex unwinding |
| BP | TAS | GO:0032508 | DNA duplex unwinding |
| BP | IBA | GO:0045740 | positive regulation of DNA replication |
| BP | IBA | GO:0061820 | telomeric D-loop disassembly |
| BP | IDA | GO:0061820 | telomeric D-loop disassembly |
| BP | IGI | GO:0061820 | telomeric D-loop disassembly |
| MF | IBA | GO:0000405 | bubble DNA binding |
| MF | IDA | GO:0000405 | bubble DNA binding |
| MF | IBA | GO:0003677 | DNA binding |
| MF | IBA | GO:0003697 | single-stranded DNA binding |
| MF | TAS | GO:0004386 | helicase activity |
| MF | IBA | GO:0005515 | protein binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0005524 | ATP binding |
| MF | IDA | GO:0005524 | ATP binding |
| MF | IBA | GO:0009378 | four-way junction helicase activity |
| MF | IBA | GO:0032357 | oxidized purine DNA binding |
| MF | IDA | GO:0032357 | oxidized purine DNA binding |
| MF | IBA | GO:0036310 | annealing helicase activity |
| MF | IDA | GO:0036310 | annealing helicase activity |
| MF | IBA | GO:0043140 | ATP-dependent 3'-5' DNA helicase activity |
| MF | IMP | GO:0043140 | ATP-dependent 3'-5' DNA helicase activity |
| MF | IBA | GO:0061821 | telomeric D-loop binding |
| MF | IDA | GO:0061821 | telomeric D-loop binding |
Gene expression in normal tissue: RECQL4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RECQL4
| Database | Pathway ID | Pathway Des. |
|---|
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD872 | BRD7137 | 6 |
| iGMDRD888 | Compound 44 | 6 |
| iGMDRD506 | Fedratinib | 1 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD577 | BIX01294 | 1 |
| iGMDRD366 | PI-103 | 3 |
| iGMDRD505 | Pevonedistat | 6 |
| iGMDRD300 | Tozasertib | 3 |
| iGMDRD369 | TGX-115 | 3 |
| iGMDRD42 | Vorinostat | 3 |
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD137 | Indisulam | 3 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD77 | Itraconazole | 3 |
| iGMDRD639 | YK 4-279 | 3 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD84 | Lovastatin acid | 3 |
| iGMDRD307 | Manumycin A | 3 |
| iGMDRD599 | Salermide | 3 |
| iGMDRD560 | MK-2206 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RECQL4
CLASSFICATION
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