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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 (Replication Factor C Subunit 1) is a Protein Coding gene. Diseases associated with RFC1 include Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome and Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome. Among its related pathways are DNA Damage Response and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and double-stranded DNA binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IBA | 21873635 |
GO:0003689 | DNA clamp loader activity | IEA | -- |
GO:0003690 | double-stranded DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 9488738 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005663 | DNA replication factor C complex | IEA,IDA | 9488738 |
GO:0005730 | nucleolus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Telomere C-strand (Lagging Strand) Synthesis |
.67
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2 | Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template | ||
3 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
4 | DNA Double-Strand Break Repair |
.53
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5 | Mismatch repair |
.54
Mismatch Repair in Eukaryotes
.54
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.01
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006260 | DNA replication | IEA | -- |
GO:0006261 | DNA-dependent DNA replication | TAS | 8248204 |
GO:0006281 | DNA repair | IEA | -- |
GO:0006283 | transcription-coupled nucleotide-excision repair | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Pralatrexate | Approved, Investigational | Pharma | inhibitor | Antifolate,a folate analog, RFC-1 targeted DHFR inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | ^ | 16 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | ^ | 28a | · | 28b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||
SP10: | - | ||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||
SP13: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | RFC1 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | RFC1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | RFC1 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Rfc1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Rfc1 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | RFC1 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | RFC1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | RFC1 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | RFC1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | rfc1 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | rfc1 33 32 |
|
OneToOne | |
fruit fly (Drosophila melanogaster) |
Insecta | Gnf1 33 34 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001290 32 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | rfc-1 33 34 |
|
OneToOne | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RFC1 35 33 32 |
|
||
K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D06897g 32 |
|
||
A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ACR102W 32 |
|
||
fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rfc1 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne | |
bread mold (Neurospora crassa) |
Ascomycetes | NCU06767 32 |
|
SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000028373 | -- | 39,317,701(-) | T/C | intron_variant | |
rs1000055739 | -- | 39,331,188(-) | T/A/C | intron_variant | |
rs1000066643 | -- | 39,320,206(-) | A/G | intron_variant | |
rs1000089352 | -- | 39,362,966(-) | G/A | intron_variant | |
rs1000195076 | -- | 39,324,537(-) | T/C | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1474e212 | CNV | loss | 25503493 |
esv3600276 | CNV | gain | 21293372 |
nsv1131790 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cerebellar ataxia, neuropathy, and vestibular areflexia syndrome |
|
|
cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome |
|
|
hutchinson-gilford progeria syndrome |
|
|