RFC1 - replication factor C subunit 1 Gene
Also Known as A1; RFC; PO-GA; RECC1; CANVAS; MHCBFB; RFC140
Species: Homo sapiens
About RFC1
This gene has 16 transcripts (splice variants), 215 orthologues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 16.8), thyroid (RPKM 15.7) and 25 other tissues.
Summary
This gene encodes the large subunit of replication factor C, a five subunit DNA Polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
RFC1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001204747.2 | NP_001191676.1 | replication factor C subunit 1 isoform 2 |
| NM_001363495.2 | NP_001350424.1 | replication factor C subunit 1 isoform 3 |
| NM_001363496.2 | NP_001350425.1 | replication factor C subunit 1 isoform 4 |
| NM_002913.5 | NP_002904.3 | replication factor C subunit 1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA clamp unloader activity |
IMP
IMP: Inferred from mutant phenotype
|
23277426 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9488738 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA-templated DNA replication |
IDA
IDA: Inferred from direct assay
|
9488738 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of DNA replication factor C complex |
IDA
IDA: Inferred from direct assay
|
9488738 | GOA |
| part of DNA replication factor C complex |
IPI
IPI: Inferred from physical interaction
|
9488738 | GOA |
| part of Elg1 RFC-like complex |
IDA
IDA: Inferred from direct assay
|
23277426 | GOA |
RFC1 Protein Structure
BRCT: BRCA1 C Terminus (BRCT) domain (404 - 479)
AAA: ATPase family associated with various cellular activities (AAA) (648 - 774)
RFC1: Replication factor RFC1 C terminal domain (915 - 1068)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1148 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
replication factor C subunit 1 |
|
RFC1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
RFC1 | P35251 | RFC2 | Homo sapiens | P35250 | 9488738 | |
|
Intra
|
RFC1 | P35251 | RFC2 | Homo sapiens | P35250 | 9488738 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
|
| Hereditary Late-Onset Parkinson Disease |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Spinocerebellar Ataxia 37 |
|
|
| Adie Pupil |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | RFC1 | VGNC | VGNC:106894 |
| Canis familiaris | RFC1 | VGNC | VGNC:45492 |
| Macaca mulatta | RFC1 | VGNC | VGNC:97819 |
| Mus musculus | RFC1 | MGD | MGI:97891 |
| Felis catus | RFC1 | VGNC | VGNC:69294 |
| Rattus norvegicus | RFC1 | RGD | RGD:620619 |
| Others | RFC1 | NCBI |