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 |
|---|---|---|---|---|---|
| SprT-like N-terminal domain | MIM:616086 | Ensembl:ENSG00000010072 | HGNC:HGNC:25356 | PA142672442 | 1q42.2 |
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 |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005694 | chromosome |
| CC | IDA | GO:0016607 | nuclear speck |
| BP | IBA | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IDA | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IDA | GO:0009411 | response to UV |
| BP | IDA | GO:0019985 | translesion synthesis |
| BP | IMP | GO:0019985 | translesion synthesis |
| BP | IDA | GO:0031398 | positive regulation of protein ubiquitination |
| BP | TAS | GO:0070987 | error-free translesion synthesis |
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 in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SPRTN
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