SPRTN
Summary: The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:616086 Ensembl IDEnsembl:ENSG00000010072 HGNC IDHGNC:HGNC:25356 PHARMGKB IDPA142672442 Map Location1q42.2 | |||||
Gene Categories:
DNA REPAIRGO terms in SPRTN
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003677 | DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0031593 | polyubiquitin modification-dependent protein binding |
| MF | IDA | GO:0043130 | ubiquitin binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IDA | GO:0070530 | K63-linked polyubiquitin modification-dependent protein binding |
Gene expression in normal tissue: SPRTN
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SPRTN
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-110313 | Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template |
| reactome | R-HSA-110320 | Translesion Synthesis by POLH |
| reactome | R-HSA-73893 | DNA Damage Bypass |
| reactome | R-HSA-73894 | DNA Repair |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD748 | PHA-665752 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SPRTN
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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