RFC1 Gene (Protein Coding)

Replication Factor C Subunit 1

GC04M039291
GIFtS:
47
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
  • RFC140 2 3 4
  • 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
  • DNA-Binding Protein PO-GA 3 4
  • Activator 1 Large Subunit 3 4
  • Activator 1 Subunit 1 3 4
  • RF-C 140 KDa Subunit 3 4
  • A1 140 KDa Subunit 3 4
  • MHCBFB 2 3
  • PO-GA 2 3
  • A1 2 3
  • Replication Factor C (Activator 1) 1 (145kD) 2
  • MHC Binding Factor, Beta 3
  • Replication Factor C1 3
  • CANVAS 3
  • RECC1 3
  • RFC1 5
  • RFC 3

External Ids for RFC1 Gene

Previous GeneCards Identifiers for RFC1 Gene

  • GC04M039463
  • GC04M039123
  • GC04M039186
  • GC04M039111
  • GC04M038965
  • GC04M038615

Summaries for RFC1 Gene

Entrez Gene Summary 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 Spinocerebellar Ataxia 37. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Cell Cycle, Mitotic. 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.

Gene Wiki entry for RFC1 Gene

Additional gene information for RFC1 Gene

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 Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RFC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J039364 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 262.4 +0.3 316 2.5 BCLAF1 SP1 ZNF207 MYC ZNF600 JUND ZNF580 ZNF592 ATF2 KLF9 RFC1 WDR19 RPL9 lnc-RPL9-2
GH04J039390 Promoter/Enhancer 0.7 EPDnew FANTOM5 Ensembl 250.4 -24.4 -24420 0.4 RFC1 RF00026-746 HSALNG0033946 KLB
GH04J040237 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 24.5 -872.6 -872616 3.1 MYC ZNF592 ATF2 POLR2A NONO REST SMAD5 BHLHE40 ZNF639 MBD2 HSALNG0033999 PDS5A RFC1 N4BP2 ENSG00000250906 RHOH LOC344967 CHRNA9 ZBTB12BP RBM47
GH04J040189 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.3 -833.6 -833597 22.4 BCLAF1 SP1 ZNF207 NCOR1 IKZF1 MYC ZNF592 ATF2 POLR2A CEBPA RHOH N4BP2 PDS5A RFC1 RBM47 LOC344967 CHRNA9 ENSG00000250906 UGDH-AS1 ARL4AP2
GH04J038661 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 +697.5 697524 14.9 BCLAF1 MYC IKZF1 NCOR1 ZNF654 ZNF600 JUND ZNF580 ZNF592 ZMYM3 KLF3 KLF3-AS1 ENSG00000271958 TBC1D1 RFC1 ENSG00000249863 KLHL5 TLR6 TLR1 lnc-TLR10-2
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RFC1

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

Latest Assembly
chr4:39,287,456-39,366,381
(GRCh38/hg38)
Size:
78,926 bases
Orientation:
Minus strand

Previous Assembly
chr4:39,289,076-39,367,982
(GRCh37/hg19 by Entrez Gene)
Size:
78,907 bases
Orientation:
Minus strand

chr4:39,289,076-39,367,995
(GRCh37/hg19 by Ensembl)
Size:
78,920 bases
Orientation:
Minus strand

Genomic View for RFC1 Gene

Genes around RFC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFC1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RFC1 Gene

Proteins for RFC1 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for RFC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35251-RFC1_HUMAN
    Recommended name:
    Replication factor C subunit 1
    Protein Accession:
    P35251
    Secondary Accessions:
    • 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.
    Miscellaneous:
    • [Isoform 2]: Alternative use of an acceptor site.

    Three dimensional structures from OCA and Proteopedia for RFC1 Gene

    Alternative splice isoforms for RFC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFC1 Gene

Protein Expression for RFC1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RFC1 Gene

  • Ubiquitination at Lys243, Lys468, Lys551, Lys556, Lys645, and Lys700
  • Modification sites at PhosphoSitePlus

Other Protein References for RFC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
  • BRCT domain
  • DNA replication factor C-terminal

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

UniProtKB/Swiss-Prot:

RFC1_HUMAN :
  • Belongs to the activator 1 large subunit family.
Family:
  • Belongs to the activator 1 large subunit family.
genes like me logo Genes that share domains with RFC1: view

Function for RFC1 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with RFC1: view
genes like me logo Genes that share phenotypes with RFC1: view

Human Phenotype Ontology for RFC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RFC1 Gene

MGI Knock Outs for RFC1:
  • Rfc1 Rfc1<tm1b(KOMP)Mbp>

Animal Models for research

  • Taconic Biosciences Mouse Models for RFC1

miRNA for RFC1 Gene

miRTarBase miRNAs that target RFC1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFC1

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RFC1 gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 2
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA,TAS --
GO:0005663 DNA replication factor C complex IEA,IDA 9488738
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with RFC1: view

Pathways & Interactions for RFC1 Gene

PathCards logo

SuperPathways for RFC1 Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
PCNA-Dependent Long Patch Base Excision Repair
.88
Resolution of AP sites via the multiple-nucleotide patch replacement pathway
.88
Extension of Telomeres
.77
Telomere C-strand (Lagging Strand) Synthesis
.77
DNA replication
.67
Base Excision Repair
.65
Resolution of Abasic Sites (AP sites)
.65
Gap-filling DNA repair synthesis and ligation in GG-NER
.64
DNA strand elongation
.62
Recognition of DNA damage by PCNA-containing replication complex
.62
Polymerase switching on the C-strand of the telomere
.58
Cell cycle Transition and termination of DNA replication
.48
Lagging Strand Synthesis
.01
Leading Strand Synthesis
.01
Polymerase switching
.01
2 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
Termination of translesion DNA synthesis
.83
Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
.83
DNA Damage Bypass
.82
Translesion Synthesis by POLH
.01
Translesion synthesis by POLI
.01
Translesion synthesis by POLK
.01
Translesion synthesis by REV1
.01
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
.90
Gap-filling DNA repair synthesis and ligation in TC-NER
.90
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
.84
Global Genome Nucleotide Excision Repair (GG-NER)
.76
Nucleotide Excision Repair
.76
4 DNA Double-Strand Break Repair
DNA Double-Strand Break Repair
.83
Homology Directed Repair
.83
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
.79
DNA Repair
.53
5 Mismatch repair
Mismatch repair
.54
Mismatch Repair in Eukaryotes
.54
Mismatch repair
.01
genes like me logo Genes that share pathways with RFC1: view

Pathways by source for RFC1 Gene

1 GeneGo (Thomson Reuters) pathway for RFC1 Gene
  • Cell cycle Transition and termination of DNA replication
2 Qiagen pathways for RFC1 Gene
  • Mismatch Repair in Eukaryotes
  • Nucleotide Excision Repair Pathway

Gene Ontology (GO) - Biological Process for RFC1 Gene

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 --
genes like me logo Genes that share ontologies with RFC1: view

No data available for SIGNOR curated interactions for RFC1 Gene

Drugs & Compounds for RFC1 Gene

Products:

  1. Drug products for research

(4) Drugs for RFC1 Gene - From: DGIdb and Novoseek

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

(3) Additional Compounds for RFC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RFC1: view

Transcripts for RFC1 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for RFC1 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFC1

Alternative Splicing Database (ASD) splice patterns (SP) for RFC1 Gene

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:

Relevant External Links for RFC1 Gene

GeneLoc Exon Structure for
RFC1

Expression for RFC1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RFC1 Gene

mRNA expression in normal human tissues for RFC1 Gene
mRNA expression by GTEx for RFC1 GenemRNA expression by BioGPS for RFC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Limb (Muscoskeletal System)

Protein differential expression in normal tissues from HIPED 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



Protein tissue co-expression partners for RFC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RFC1

SOURCE GeneReport for Unigene cluster for RFC1 Gene:

Hs.507475

mRNA 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

  • Skin(4.4)
  • Liver(4.3)
  • Nervous system(3.7)
genes like me logo Genes that share expression patterns with RFC1: view

Primer products for research

No data available for 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.

Orthologs for RFC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia RFC1 29 30
  • 99.51 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia RFC1 29 30
  • 90.48 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia RFC1 29 30
  • 88.93 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Rfc1 29 16 30
  • 83.81 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Rfc1 29
  • 83.5 (n)
Oppossum
(Monodelphis domestica)
 Mammalia RFC1 30
  • 77 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia RFC1 30
  • 72 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves RFC1 29 30
  • 72.15 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia RFC1 30
  • 64 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia rfc1 29
  • 66.39 (n)
Zebrafish
(Danio rerio)
 Actinopterygii rfc1 29 30
  • 62.15 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Gnf1 29 30 31
  • 51.03 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001290 29
  • 49.89 (n)
Worm
(Caenorhabditis elegans)
 Secernentea rfc-1 30 31
  • 36 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RFC1 29 30 32
  • 48.9 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D06897g 29
  • 48.01 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ACR102W 29
  • 46.88 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes rfc1 29
  • 49.04 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 49 (a)
 OneToOne
Bread mold
(Neurospora crassa)
 Ascomycetes NCU06767 29
  • 47.85 (n)
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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for RFC1

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
genes like me logo Genes that share paralogs with RFC1: view

No data available for Paralogs for RFC1 Gene

Variants for RFC1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RFC1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1030298 Uncertain Significance: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 39,327,690(-) T/C
NM_002913.5(RFC1):c.398A>G (p.Asn133Ser) 		MISSENSE
996307 Benign: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 39,348,425(-) AAAAGAAAAGAAAAGA
NM_002913.5(RFC1):c.132+2923= 		INTRON
rs11932767 Benign: not provided 39,304,851(-) C/Gp.Glu692Asp
NM_002913.5(RFC1):c.2073G>C (p.Glu691Asp) 		MISSENSE
rs17288820 Benign: not provided 39,288,842(-) T/C
NM_002913.5(RFC1):c.3363A>G (p.Lys1121=) 		SYNONYMOUS
rs17335452 Benign: not provided 39,295,708(-) G/Tp.Gln955Lys
NM_002913.5(RFC1):c.2860C>A (p.Gln954Lys) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RFC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RFC1 Gene

Variant ID Type Subtype PubMed ID
dgv1474e212 CNV loss 25503493
esv3600276 CNV gain 21293372
nsv1131790 CNV deletion 24896259

Variation tolerance for RFC1 Gene

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

Human Gene Mutation Database (HGMD)
RFC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFC1
Leiden Open Variation Database (LOVD)
RFC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFC1 Gene

Disorders for RFC1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for RFC1 Gene - From: OMI, CVR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search RFC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RFC1_HUMAN
  • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) [MIM:614575]: An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length-dependent sensory deficit. {ECO:0000269 PubMed:30926972, ECO:0000269 PubMed:31230722}. Note=The disease is caused by variants affecting the gene represented in this entry. The disease is caused by intronic AAGGG repeat expansions in intron 2. {ECO:0000269 PubMed:30926972, ECO:0000269 PubMed:31230722}.

Additional Disease Information for RFC1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RFC1: view

No data available for Genatlas for RFC1 Gene

Publications for RFC1 Gene

  1. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. (PMID: 30926972) Cortese A … Houlden H (Nature genetics 2019) 3 4 72
  2. 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 22
  3. 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 22
  4. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. (PMID: 31230722) Rafehi H … Lockhart PJ (American journal of human genetics 2019) 3 4
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40

ExternalLinks

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