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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 stabili... See more...
Aliases for RFC1 Gene
Aliases for RFC1 Gene
- Replication Factor C Subunit 1 2 3 4 5
- Replication Factor C (Activator 1) 1, 145kDa 2 3
- Replication Factor C 140 KDa Subunit 3 4
- Replication Factor C Large Subunit 3 4
- Activator 1 140 KDa Subunit 3 4
- Activator 1 Large Subunit 3 4
- DNA-Binding Protein PO-GA 3 4
- Activator 1 Subunit 1 3 4
- RF-C 140 KDa Subunit 3 4
- A1 140 KDa Subunit 3 4
External Ids for RFC1 Gene
- HGNC: 9969
- Entrez Gene: 5981
- Ensembl: ENSG00000035928
- OMIM: 102579
- UniProtKB: P35251
Previous GeneCards Identifiers for RFC1 Gene
- GC04M039463
- GC04M039123
- GC04M039186
- GC04M039111
- GC04M038965
- GC04M038615
Summaries for RFC1 Gene
-
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]
GeneCards Summary for RFC1 Gene
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.
UniProtKB/Swiss-Prot Summary for RFC1 Gene
-
The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation as well as DNA replication and/or repair. Can bind single- or double-stranded DNA.
-
Interacts with C-terminus of PCNA. 5' phosphate residue is required for binding of the N-terminal DNA-binding domain to duplex DNA, suggesting a role in recognition of non-primer template DNA structures during replication and/or repair.
Additional gene information for RFC1 Gene
- Monarch Initiative
- Search for RFC1 at DataMed
- Search for RFC1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RFC1 Gene
Genomics for RFC1 Gene
GeneHancer (GH) Regulatory Elements for RFC1 Gene
Promoters and enhancers for RFC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RFC1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the RFC1 gene promoter:
-
- aMEF-2
- C/EBPalpha
- FOXO4
- GATA-1
- POU2F1
- POU2F1a
- Sp1
Genomic Locations for RFC1 Gene
Genomic Locations for RFC1 Gene
- chr4:39,287,449-39,366,381
- (GRCh38/hg38)
- Size:
- 78,933 bases
- Orientation:
- Minus strand
- chr4:39,289,069-39,368,001
- (GRCh37/hg19)
- Size:
- 78,933 bases
- Orientation:
- Minus strand
Genomic View for RFC1 Gene
Genes around RFC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4p14 by HGNC
- 4p14 by Entrez Gene
- 4p14 by Ensembl
RFC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RFC1 Gene
Proteins for RFC1 Gene
-
Protein details for RFC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35251-RFC1_HUMAN
- Recommended name:
- Replication factor C subunit 1
- Protein Accession:
- P35251
- A8K6E7
- Q5XKF5
- Q6PKU0
- Q86V41
- Q86V46
Protein attributes for RFC1 Gene
- Size:
- 1148 amino acids
- Molecular mass:
- 128255 Da
- Quaternary structure:
-
- Heterotetramer of subunits RFC2, RFC3, RFC4 and RFC5 that can form a complex either with RFC1 or with RAD17. The former interacts with PCNA in the presence of ATP, while the latter has ATPase activity but is not stimulated by PCNA.
Protein Expression for RFC1 Gene
Post-translational modifications for RFC1 Gene
Other Protein References for RFC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ RFC1 Antibody
- NSJ Bioreagents RFC1 Antibody
- Atlas Antibodies Anti-RFC1 Antibody (HPA046116) and Anti-RFC1 Antibody (HPA069306)
- Novus Biologicals Antibodies for RFC1
-
Abcam antibodies for RFC1
- Invitrogen Antibodies for RFC1 (AFLGC-RFC1)
-
Biorbyt antibodies for RFC1
-
Boster Bio Antibodies for RFC1
-
Santa Cruz Biotechnology (SCBT) Antibodies for RFC1
Protein Products
- Atlas Antibodies PrEST Antigen RFC1 (APrEST91050) and PrEST Antigen RFC1 (APrEST90263)
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for RFC1
- Origene Custom Protein Services for RFC1
- Novus Biologicals proteins for RFC1
-
Abcam proteins for RFC1
Assay Products
- G Biosciences Immunotag™ Human RFC1 (Reduced Folate Carrier 1) ELISA
- antibodies-online: Show 2 available RFC1 Elisa Kits ranked by validation data
- Compare Top RFC1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for RFC1 Gene
Domains & Families for RFC1 Gene
Gene Families for RFC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for RFC1 Gene
Suggested Antigen Peptide Sequences for RFC1 Gene
- GenScript: Design optimal peptide antigens:
-
- Replication factor C large subunit (RFC1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P35251- Family:
-
- Belongs to the activator 1 large subunit family.
Function for RFC1 Gene
Molecular function for RFC1 Gene
- UniProtKB/Swiss-Prot Function:
- The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation as well as DNA replication and/or repair. Can bind single- or double-stranded DNA.
- UniProtKB/Swiss-Prot Function:
- Interacts with C-terminus of PCNA. 5' phosphate residue is required for binding of the N-terminal DNA-binding domain to duplex DNA, suggesting a role in recognition of non-primer template DNA structures during replication and/or repair.
- GENATLAS Biochemistry:
- replication factor C1,component of complex A-1,DNA polymerase accessory protein "clamp loader",ATP dependent,required to assemble PCNA and polymerase delta on the DNA template
Phenotypes From GWAS Catalog for RFC1 Gene
| 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 |
Phenotypes for RFC1 Gene
- MGI mutant phenotypes for RFC1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RFC1:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased homologous recombination repair frequency
- Increased homologous recombination repair frequency
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Reduced mammosphere formation
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Models for RFC1 Gene
- MGI Knock Outs for RFC1:
-
- Rfc1 Rfc1<tm1b(KOMP)Mbp>
Animal Model Products
-
Taconic Biosciences Mouse Models for RFC1
CRISPR Products
-
OriGene CRISPR knockouts for RFC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RFC1
- genomics-online: gRNA clones - Search results for available RFC1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for RFC1 - Select products 50% OFF >
- * RFC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * RFC1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for RFC1
miRNA for RFC1 Gene
- miRTarBase miRNAs that target RFC1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for RFC1
- Browse OriGene Inhibitory RNA Products For RFC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFC1
- genomics-online: shRNA clones - Search results for available RFC1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for RFC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RFC1
- genomics-online: cdna clones - Search results for available RFC1 gene related products
- orf clones - Search results for available RFC1 gene related products
- Applied Biological Materials (abm): Clones for RFC1 - Select products 50% OFF >
- * RFC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * RFC1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RFC1 Gene
Localization for RFC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RFC1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| golgi apparatus | 1 |
- Nucleus (4)
| 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 | -- |
Pathways & Interactions for RFC1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Telomere C-strand (Lagging Strand) Synthesis |
.67
|
|
| 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
|
|
| 5 | Mismatch repair |
.54
Mismatch Repair in Eukaryotes
.54
|
.01
|
Pathways by source for RFC1 Gene
5 BioSystems pathways for RFC1 Gene
38 Reactome pathways for RFC1 Gene
3 KEGG pathways for RFC1 Gene
1 GeneGo (Thomson Reuters) pathway for RFC1 Gene
2 Qiagen pathways for RFC1 Gene
- Mismatch Repair in Eukaryotes
- Nucleotide Excision Repair Pathway
Interacting Proteins for RFC1 Gene
Selected Interacting proteins:
P35251-RFC1_HUMAN
ENSP00000371321
for RFC1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for RFC1
| 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 | -- |
No data available for SIGNOR curated interactions for RFC1 Gene
Drugs & Compounds for RFC1 Gene
| 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 |
|---|
Drug Products
- Atlas Antibodies PrEST Antigen RFC1 (APrEST91050) and PrEST Antigen RFC1 (APrEST90263)
Transcripts for RFC1 Gene
mRNA/cDNA for RFC1 Gene
- (4) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (276) Selected AceView cDNA sequences:
- (17) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000349703 4870 bps (ENST00000349703.6)
- ENST00000381897 4886 bps (ENST00000381897.5)
- ENST00000418436 1255 bps (ENST00000418436.5)
- ENST00000502706 690 bps (ENST00000502706.1)
- ENST00000502991 567 bps (ENST00000502991.5)
CRISPR Products
-
OriGene CRISPR knockouts for RFC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RFC1
- genomics-online: gRNA clones - Search results for available RFC1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for RFC1 - Select products 50% OFF >
- * RFC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * RFC1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for RFC1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for RFC1
- Browse OriGene Inhibitory RNA Products For RFC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFC1
- genomics-online: shRNA clones - Search results for available RFC1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for RFC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RFC1
- genomics-online: cdna clones - Search results for available RFC1 gene related products
- orf clones - Search results for available RFC1 gene related products
- Applied Biological Materials (abm): Clones for RFC1 - Select products 50% OFF >
- * RFC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * RFC1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| 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: |
Expression for RFC1 Gene
This gene is overexpressed in Lung (29.9), Peripheral blood mononuclear cells (9.5), and Pancreatic juice (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RFC1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of RFC1 Gene:
RFC1SOURCE GeneReport for Unigene cluster for RFC1 Gene:
Hs.507475mRNA Expression by UniProt/SwissProt for RFC1 Gene:
P35251-RFC1_HUMAN
Tissue specificity:
Wide tissue distribution. Undetectable in placental tissue.
Evidence on tissue expression from TISSUES for RFC1 Gene
- Liver(4.3)
- Skin(4.2)
- Nervous system(3.6)
Primer Products
-
OriGene qPCR primer pairs for RFC1
-
OriGene qPCR primer pairs and template standards for RFC1
- genomics-online: primer clones - Search results for available RFC1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RFC1 Gene
Orthologs for RFC1 Gene
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 |
|
- Species where no ortholog for RFC1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for RFC1 Gene
- ENSEMBL:
- Gene Tree for RFC1 (if available)
- TreeFam:
- Gene Tree for RFC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RFC1: view image
Paralogs for RFC1 Gene
(1) SIMAP similar genes for RFC1 Gene using alignment to 5 proteins:
- RFC1_HUMAN
- D6RAD2_HUMAN
- E0CX09_HUMAN
- H0Y8U4_HUMAN
- H0Y9P8_HUMAN
No data available for Paralogs for RFC1 Gene
Variants for RFC1 Gene
| 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 |
Residual Variation Intolerance Score:
12.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.19;
52.07% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RFC1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFC1 Gene
Disorders for RFC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cerebellar ataxia, neuropathy, and vestibular areflexia syndrome |
|
|
| cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome |
|
|
| hutchinson-gilford progeria syndrome |
|
|
Search RFC1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RFC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for RFC1 Gene
Publications for RFC1 Gene
- Replication factor C interacts with the C-terminal side of proliferating cell nuclear antigen. (PMID: 8999859) Mossi R … Hübscher U (The Journal of biological chemistry 1997) 3 4 23 56
- cDNAs encoding the large subunit of human replication factor C. (PMID: 8248204) Bunz F … Stillman B (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4 23 56
- Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population. (PMID: 19714462) Loizidou MA … Kyriacou K (Breast cancer research and treatment 2010) 3 43 56
- Pharmacogenomic variations in treatment protocols for childhood acute lymphoblastic leukemia. (PMID: 19774638) Yang YL … Hu CY (Pediatric blood & cancer 2010) 3 43 56
- Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations. (PMID: 20226869) Thyagarajan B … Arora M (Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2010) 3 43 56
ExternalLinks
Products for RFC1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for RFC1
- Origene Custom Protein Services for RFC1
- Origene sirna, shrna, and RNAi products in human, mouse, rat for RFC1
- Browse OriGene Inhibitory RNA Products For RFC1
- OriGene qPCR primer pairs for RFC1
- OriGene qPCR primer pairs and template standards for RFC1
- OriGene CRISPR knockouts for RFC1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For RFC1
- Sino Biological Human cDNA Clone for RFC1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for RFC1
- Novus Biologicals proteins for RFC1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for RFC1
- Abcam proteins for RFC1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for RFC1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for RFC1 (AFLGC-RFC1)
- antibodies-online: Show 28 available RFC1 Antibodies ranked by validation data
- Compare Top RFC1 Antibodies
- antibodies-online: Show 2 available RFC1 Elisa Kits ranked by validation data
- Compare Top RFC1 Elisa Kits
- Quality Products:
- antibodies-online: Show 5 available RFC1 Proteins ranked by validation data
- Compare Top RFC1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for RFC1
- Search Santa Cruz Biotechnology (SCBT) for RFC1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for RFC1
- genomics-online: cdna clones - Search results for available RFC1 gene related products
- orf clones - Search results for available RFC1 gene related products
- genomics-online: gRNA clones - Search results for available RFC1 gene related products
- genomics-online: primer clones - Search results for available RFC1 gene related products
- genomics-online: shRNA clones - Search results for available RFC1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RFC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RFC1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for RFC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFC1
- Boster Bio Antibodies for RFC1
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for RFC1
Sources for RFC1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource