This gene encodes the smallest subunit of the replication factor C complex, which consists of five distinct subunits (140, 40, 38, 37, and 36 kDa) and is required for DNA replication. This subunit interacts with the C-terminal region of proliferating cell nuclear antigen and is required to open and load proliferating cell nuclear antigen onto DNA during S phase. It is a member ... See more...

Aliases for RFC5 Gene

Aliases for RFC5 Gene

  • Replication Factor C Subunit 5 2 3 4 5
  • RFC36 2 3 4
  • Replication Factor C (Activator 1) 5, 36.5kDa 2 3
  • RF-C 36 KDa Subunit 3 4
  • A1 36 KDa Subunit 3 4
  • Replication Factor C (Activator 1) 5 (36.5kD) 2
  • Replication Factor C, 36-KDa Subunit 3
  • Replication Factor C 36 KDa Subunit 4
  • Activator 1 36 KDa Subunit 4
  • Activator 1 Subunit 5 4
  • RFC, 36.5 KD Subunit 3
  • RFC5 5

External Ids for RFC5 Gene

Previous GeneCards Identifiers for RFC5 Gene

  • GC12U990087
  • GC12P117975
  • GC12P118237
  • GC12P116866
  • GC12P116917
  • GC12P118454
  • GC12P115465

Summaries for RFC5 Gene

Entrez Gene Summary for RFC5 Gene

  • This gene encodes the smallest subunit of the replication factor C complex, which consists of five distinct subunits (140, 40, 38, 37, and 36 kDa) and is required for DNA replication. This subunit interacts with the C-terminal region of proliferating cell nuclear antigen and is required to open and load proliferating cell nuclear antigen onto DNA during S phase. It is a member of the AAA+ (ATPases associated with various cellular activities) ATPase family and forms a core complex with the 38 and 40 kDa subunits that possesses DNA-dependent ATPase activity. A related pseudogene has been identified on chromosome 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

GeneCards Summary for RFC5 Gene

RFC5 (Replication Factor C Subunit 5) is a Protein Coding gene. Diseases associated with RFC5 include Ocular Melanoma. Among its related pathways are Homologous DNA Pairing and Strand Exchange and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include enzyme binding and DNA clamp loader activity. An important paralog of this gene is RFC4.

UniProtKB/Swiss-Prot Summary for RFC5 Gene

  • The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1.

Gene Wiki entry for RFC5 Gene

Additional gene information for RFC5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RFC5 Gene

Genomics for RFC5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RFC5 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
GH12J118015 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 616.7 +3.5 3507 2.2 ZNF221 BRCA1 ARHGAP35 SP1 HNRNPL CREB1 ZNF629 TFE3 RFX1 ZNF692 RFC5 WSB2 SUDS3 FBXO21 ENSG00000277873 lnc-WSB2-3
GH12J117447 Promoter 0.3 EPDnew 600 -566.6 -566556 0.1 RFC5 NOS1 lnc-KSR2-1 lnc-NOS1-1 FBXO21
GH12J118058 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 34.9 +48.7 48661 7.5 CEBPG CTCF ATF7 PRDM10 ZNF512 IKZF1 ZNF692 RCOR2 POLR2A FOXA1 WSB2 lnc-RFC5-5 lnc-WSB2-1 VSIG10 RFC5 SUDS3 RPS2P5 lnc-WSB2-3
GH12J117968 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 37.7 -44.6 -44587 2.4 BRCA1 PRDM10 BACH1 TARDBP ZIC2 ZSCAN4 PKNOX1 POLR2A PATZ1 ZNF501 KSR2 piR-38351-117 RFC5 SUDS3 VSIG10 lnc-WSB2-3
GH12J117098 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 20.7 -915.0 -914987 2.8 ARHGAP35 SP1 HNRNPL PRDM10 TFE3 KDM1A BACH1 LARP7 ZNF143 ZIC2 TESC-AS1 TESC lnc-FBXO21-2 FBXW8 RFC5 MED13L RF00017-1293
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RFC5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RFC5

Top Transcription factor binding sites by QIAGEN in the RFC5 gene promoter:
  • ARP-1
  • CREB
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • HSF2
  • NF-E2
  • NF-E2 p45

Genomic Locations for RFC5 Gene

Genomic Locations for RFC5 Gene
chr12:118,013,588-118,033,564
(GRCh38/hg38)
Size:
19,977 bases
Orientation:
Plus strand
chr12:118,451,393-118,470,935
(GRCh37/hg19)
Size:
19,543 bases
Orientation:
Plus strand

Genomic View for RFC5 Gene

Genes around RFC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFC5 Gene

Proteins for RFC5 Gene

  • Protein details for RFC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40937-RFC5_HUMAN
    Recommended name:
    Replication factor C subunit 5
    Protein Accession:
    P40937
    Secondary Accessions:
    • A8MZ62
    • B3KSX8

    Protein attributes for RFC5 Gene

    Size:
    340 amino acids
    Molecular mass:
    38497 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.

    Three dimensional structures from OCA and Proteopedia for RFC5 Gene

    Alternative splice isoforms for RFC5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFC5 Gene

Post-translational modifications for RFC5 Gene

  • Ubiquitination at Lys7, Lys16, Lys25, and Lys66
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RFC5 Gene

Domains & Families for RFC5 Gene

Gene Families for RFC5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RFC5 Gene

InterPro:
Blocks:
  • Replication factor C
ProtoNet:

Suggested Antigen Peptide Sequences for RFC5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ37256 fis, clone BRAMY2009612, highly similar to Replication factor C subunit 5 (A8MZ62_HUMAN)
  • RFC5 protein (Q6LES9_HUMAN)
  • Replication factor C 36 kDa subunit (RFC5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P40937

UniProtKB/Swiss-Prot:

RFC5_HUMAN :
  • Belongs to the activator 1 small subunits family.
Family:
  • Belongs to the activator 1 small subunits family.
genes like me logo Genes that share domains with RFC5: view

Function for RFC5 Gene

Molecular function for RFC5 Gene

UniProtKB/Swiss-Prot Function:
The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1.
GENATLAS Biochemistry:
replication factor C5,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 RFC5 Gene

Gene Ontology (GO) - Molecular Function for RFC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0003689 contributes_to DNA clamp loader activity IBA,IDA 12930902
GO:0005515 protein binding IPI 9488738
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with RFC5: view
genes like me logo Genes that share phenotypes with RFC5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFC5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RFC5 Gene

Localization for RFC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFC5 Gene

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 RFC5 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RFC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005663 DNA replication factor C complex IDA 9488738
GO:0031390 Ctf18 RFC-like complex IDA 12930902
genes like me logo Genes that share ontologies with RFC5: view

Pathways & Interactions for RFC5 Gene

PathCards logo

SuperPathways for RFC5 Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
.48
2 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
3 DNA Double-Strand Break Repair
4 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
5 Homologous DNA Pairing and Strand Exchange
genes like me logo Genes that share pathways with RFC5: view

Pathways by source for RFC5 Gene

1 GeneGo (Thomson Reuters) pathway for RFC5 Gene
  • Cell cycle Transition and termination of DNA replication
2 Qiagen pathways for RFC5 Gene
  • Mismatch Repair in Eukaryotes
  • Nucleotide Excision Repair Pathway

Gene Ontology (GO) - Biological Process for RFC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication TAS --
GO:0006261 DNA-dependent DNA replication IBA 21873635
GO:0006281 DNA repair IBA,NAS 8999859
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006296 nucleotide-excision repair, DNA incision, 5'-to lesion TAS --
genes like me logo Genes that share ontologies with RFC5: view

No data available for SIGNOR curated interactions for RFC5 Gene

Drugs & Compounds for RFC5 Gene

No Compound Related Data Available

Transcripts for RFC5 Gene

mRNA/cDNA for RFC5 Gene

6 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFC5

Alternative Splicing Database (ASD) splice patterns (SP) for RFC5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: -
SP2: - - - -
SP3: - - - - -
SP4: - -
SP5: - -
SP6: -
SP7: - -
SP8:
SP9:

Relevant External Links for RFC5 Gene

GeneLoc Exon Structure for
RFC5

Expression for RFC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RFC5 Gene

Protein differential expression in normal tissues from HIPED for RFC5 Gene

This gene is overexpressed in Bone (21.4), Peripheral blood mononuclear cells (10.0), and Breast (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RFC5 Gene



Protein tissue co-expression partners for RFC5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RFC5

SOURCE GeneReport for Unigene cluster for RFC5 Gene:

Hs.731908

Evidence on tissue expression from TISSUES for RFC5 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Skin(4.6)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with RFC5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RFC5 Gene

Orthologs for RFC5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RFC5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RFC5 30 31
  • 99.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RFC5 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RFC5 30 31
  • 89.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RFC5 30 31
  • 89.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rfc5 30 17 31
  • 86.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rfc5 30
  • 85.76 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RFC5 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RFC5 30 31
  • 76.33 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RFC5 31
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rfc5 30
  • 75.6 (n)
Str.101 30
Zebrafish
(Danio rerio)
Actinopterygii rfc5 30 31
  • 71.97 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005144 30
  • 63.11 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta RfC3 30 31 32
  • 58.23 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F44B9.8 30 31 32
  • 56.79 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RFC3 30 31
  • 55.25 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL196W 30
  • 53.48 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13201g 30
  • 53.35 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RFC3 30
  • 60.5 (n)
Soybean
(Glycine max)
eudicotyledons Gma.7568 30
Rice
(Oryza sativa)
Liliopsida Os02g0775200 30
  • 59.52 (n)
Os.2212 30
Barley
(Hordeum vulgare)
Liliopsida Hv.11639 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6453 31
  • 64 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rfc3 30
  • 54.71 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU08427 30
  • 52.67 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8316 30
Species where no ortholog for RFC5 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)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RFC5 Gene

ENSEMBL:
Gene Tree for RFC5 (if available)
TreeFam:
Gene Tree for RFC5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RFC5: view image

Paralogs for RFC5 Gene

Paralogs for RFC5 Gene

(2) SIMAP similar genes for RFC5 Gene using alignment to 8 proteins:

  • RFC5_HUMAN
  • C9JH72_HUMAN
  • E9PEP3_HUMAN
  • F5H0U6_HUMAN
  • F5H304_HUMAN
  • F5H5S0_HUMAN
  • F8W9B4_HUMAN
  • Q6LES9_HUMAN

Pseudogenes.org Pseudogenes for RFC5 Gene

genes like me logo Genes that share paralogs with RFC5: view

Variants for RFC5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RFC5 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs5745796 - p.Ala13Thr

Additional dbSNP identifiers (rs#s) for RFC5 Gene

Structural Variations from Database of Genomic Variants (DGV) for RFC5 Gene

Variant ID Type Subtype PubMed ID
esv3344048 CNV insertion 20981092
esv3581916 CNV gain 25503493
nsv560388 CNV loss 21841781

Variation tolerance for RFC5 Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RFC5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFC5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFC5 Gene

Disorders for RFC5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RFC5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ocular melanoma
  • eye melanoma
- elite association - COSMIC cancer census association via MalaCards
Search RFC5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RFC5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RFC5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RFC5 Gene

Publications for RFC5 Gene

  1. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  2. Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PMID: 20574454) Arora M … Thyagarajan B (Leukemia 2010) 3 41
  3. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs FB … International Multiple Sclerosis Genetics Consortium (American journal of epidemiology 2010) 3 41
  4. 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 41
  5. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 41

Products for RFC5 Gene

Sources for RFC5 Gene