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Aliases for RFC5 Gene

Aliases for RFC5 Gene

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

External Ids for RFC5 Gene

Previous GeneCards Identifiers for RFC5 Gene

  • GC12U990087
  • 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. Among its related pathways are Mismatch repair and DNA Double-Strand Break Repair. GO annotations related to this gene include enzyme binding and DNA clamp loader activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for RFC5 Gene

Genomics for RFC5 Gene

Regulatory Elements for RFC5 Gene

Enhancers for RFC5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H118058 1.6 FANTOM5 ENCODE dbSUPER 25.6 +48.3 48338 6.9 HDGF FOXA2 ARNT ARID4B SIN3A FEZF1 YY1 ZNF766 SMARCB1 ZNF592 VSIG10 RFC5 SUDS3 WSB2 GC12P118041 PIR34670
GH12H117968 1 ENCODE 37.6 -44.3 -44300 1.4 PKNOX1 ARNT SIN3A FEZF1 ZNF2 BRCA1 GLIS2 ELK1 SP3 YY2 RFC5 SUDS3 VSIG10 ENSG00000256071 LINC02460 LINC02423 LINC02439 ENSG00000256149 KSR2
GH12H118015 1.1 ENCODE 21.6 +3.5 3476 2.2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B SUDS3 RFC5 WSB2 ENSG00000277873
GH12H117098 1 ENCODE 20.7 -914.7 -914728 1.3 SIN3A ZNF143 ATF7 SP3 REST ZNF592 MIER3 RCOR2 ETV4 KDM1A FBXW8 RFC5 MED13L TESC-AS1 GC12M117031
GH12H118370 1.7 FANTOM5 ENCODE dbSUPER 12 +360.7 360716 8.4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SUDS3 RFC5 PEBP1 TAOK3 ENSG00000270482
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RFC5 on UCSC Golden Path with GeneCards custom track

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)

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

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

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
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.

Phenotypes From GWAS Catalog for RFC5 Gene

Gene Ontology (GO) - Molecular Function for RFC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003689 contributes_to DNA clamp loader activity IDA 12930902
GO:0005515 protein binding IPI 9488738
GO:0005524 ATP binding IEA --
GO:0019899 enzyme binding NAS 8999859
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

Clone Products

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
peroxisome 2
cytosol 2
extracellular 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 --
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

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
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

Gene Ontology (GO) - Biological Process for RFC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication TAS --
GO:0006281 DNA repair NAS,IBA 8999859
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006296 nucleotide-excision repair, DNA incision, 5-to lesion TAS --
GO:0006297 nucleotide-excision repair, DNA gap filling 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

Unigene Clusters for RFC5 Gene

Replication factor C (activator 1) 5, 36.5kDa:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
RFC5

Expression for RFC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RFC5 Gene



Protein tissue co-expression partners for RFC5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RFC5 Gene:

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(4.4)
  • Muscle(4.1)
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 33 34
  • 99.31 (n)
oppossum
(Monodelphis domestica)
Mammalia RFC5 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RFC5 33 34
  • 89.64 (n)
cow
(Bos Taurus)
Mammalia RFC5 33 34
  • 89.15 (n)
mouse
(Mus musculus)
Mammalia Rfc5 33 16 34
  • 86.59 (n)
rat
(Rattus norvegicus)
Mammalia Rfc5 33
  • 85.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RFC5 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves RFC5 33 34
  • 76.33 (n)
lizard
(Anolis carolinensis)
Reptilia RFC5 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfc5 33
  • 75.6 (n)
Str.101 33
zebrafish
(Danio rerio)
Actinopterygii rfc5 33 34
  • 71.97 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005144 33
  • 63.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta RfC3 35 33 34
  • 58.23 (n)
worm
(Caenorhabditis elegans)
Secernentea F44B9.8 35 33 34
  • 56.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RFC3 33 34
  • 55.25 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL196W 33
  • 53.48 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13201g 33
  • 53.35 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RFC3 33
  • 60.5 (n)
soybean
(Glycine max)
eudicotyledons Gma.7568 33
rice
(Oryza sativa)
Liliopsida Os02g0775200 33
  • 59.52 (n)
Os.2212 33
barley
(Hordeum vulgare)
Liliopsida Hv.11639 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6453 34
  • 64 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rfc3 33
  • 54.71 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08427 33
  • 52.67 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8316 33
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)

Paralogs for RFC5 Gene

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

Pseudogenes.org Pseudogenes for RFC5 Gene

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

No data available for Paralogs for RFC5 Gene

Variants for RFC5 Gene

Sequence variations from dbSNP and Humsavar for RFC5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000471544 -- 118,015,586(+) AAAAA(C/T)CCTCC upstream-variant-2KB
rs1000654564 -- 118,020,722(+) AGCCA(C/T)CTTTA intron-variant
rs1001032612 -- 118,034,017(+) TTCAC(A/G)TGCCA downstream-variant-500B, utr-variant-3-prime
rs1001063098 -- 118,033,768(+) ACTGC(A/C)TCAGA downstream-variant-500B, utr-variant-3-prime
rs1001384573 -- 118,016,206(+) AACTT(C/T)TTGGG upstream-variant-2KB

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

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

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)

Relevant External Links for RFC5 Gene

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

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

Disorders for RFC5 Gene

Relevant External Links for RFC5

Genetic Association Database (GAD)
RFC5
Human Genome Epidemiology (HuGE) Navigator
RFC5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFC5

No disorders were found for RFC5 Gene.

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

Publications for RFC5 Gene

  1. 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 45 60
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 45 60
  3. Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PMID: 20574454) Arora M … Thyagarajan B (Leukemia 2010) 3 45 60
  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 45 60
  5. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 45 60

Products for RFC5 Gene

Sources for RFC5 Gene

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