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Aliases for RFC4 Gene

Aliases for RFC4 Gene

  • Replication Factor C Subunit 4 2 3 3 5
  • Activator 1 37 KDa Subunit 2 3 4
  • A1 37 KDa Subunit 2 3 4
  • Replication Factor C (Activator 1) 4, 37kDa 2 3
  • Replication Factor C 37 KDa Subunit 3 4
  • Activator 1 Subunit 4 3 4
  • RF-C 37 KDa Subunit 3 4
  • RFC 37 KDa Subunit 2 3
  • RFC37 3 4
  • Replication Factor C (Activator 1) 4 (37kD) 2
  • A1 3

External Ids for RFC4 Gene

Previous GeneCards Identifiers for RFC4 Gene

  • GC03M183282
  • GC03M187764
  • GC03M187909
  • GC03M187828
  • GC03M187990
  • GC03M186507
  • GC03M183917

Summaries for RFC4 Gene

Entrez Gene Summary for RFC4 Gene

  • The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for RFC4 Gene

RFC4 (Replication Factor C Subunit 4) is a Protein Coding gene. Among its related pathways are Gene Expression and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include DNA clamp loader activity.

UniProtKB/Swiss-Prot for RFC4 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. This subunit may be involved in the elongation of the multiprimed DNA template.

Gene Wiki entry for RFC4 Gene

Additional gene information for RFC4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFC4 Gene

Genomics for RFC4 Gene

GeneHancer (GH) Regulatory Elements for RFC4 Gene

Promoters and enhancers for RFC4 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
GH03J186805 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 658.3 +0.6 556 2.3 SMAD1 ARID4B SIN3A DMAP1 POLR2B CBX5 E2F8 ZNF143 SP3 SP5 RFC4 ENSG00000231724 TRA2B LOC100131635 TBCCD1 GC03P186845 SNORA4
GH03J186782 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 51.5 +21.3 21312 7.1 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D SNORA4 SNORA63B SNORA81 EIF4A2 ENSG00000263826 GC03P186785 GC03P186835 GC03P186837 GC03P186838 GC03P186839
GH03J186566 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 37.9 +239.7 239663 2.3 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 NFYC ZHX2 TBCCD1 DNAJB11 TRA2B RFC4 SNORA4 SNORA63B PIR33054
GH03J187735 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 24.1 -934.8 -934752 13 CLOCK MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 MEF2D SSRP1 ZNF610 BCL6 LOC100131635 SNORA4 RFC4 SNORA63B LPP SNORA81 ST6GAL1 RTP4 RTP2
GH03J186105 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 24.8 +699.0 698972 5.6 PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 YY1 POLR2B FOS ETV5 TBCCD1 TRA2B RFC4 SNORA63B SNORA81 SNORA4 ETV5-AS1 DGKG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RFC4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RFC4 gene promoter:
  • Sp1
  • Max
  • c-Myc
  • aMEF-2
  • MEF-2A

Genomic Locations for RFC4 Gene

Genomic Locations for RFC4 Gene
chr3:186,789,880-186,807,058
(GRCh38/hg38)
Size:
17,179 bases
Orientation:
Minus strand
chr3:186,507,669-186,524,847
(GRCh37/hg19)
Size:
17,179 bases
Orientation:
Minus strand

Genomic View for RFC4 Gene

Genes around RFC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFC4 Gene

Proteins for RFC4 Gene

  • Protein details for RFC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35249-RFC4_HUMAN
    Recommended name:
    Replication factor C subunit 4
    Protein Accession:
    P35249
    Secondary Accessions:
    • B4DM41
    • D3DNV2
    • Q6FHX7

    Protein attributes for RFC4 Gene

    Size:
    363 amino acids
    Molecular mass:
    39682 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:
    • Despite of the presence of a putative ATP-binding motif, this protein does not bind ATP.

    Alternative splice isoforms for RFC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RFC4 Gene

Post-translational modifications for RFC4 Gene

  • Ubiquitination at posLast=6464 and posLast=66
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RFC4 Gene

Domains & Families for RFC4 Gene

Gene Families for RFC4 Gene

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

Suggested Antigen Peptide Sequences for RFC4 Gene

Graphical View of Domain Structure for InterPro Entry

P35249

UniProtKB/Swiss-Prot:

RFC4_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 RFC4: view

Function for RFC4 Gene

Molecular function for RFC4 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. This subunit may be involved in the elongation of the multiprimed DNA template.
GENATLAS Biochemistry:
replication factor C4,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 RFC4 Gene

Gene Ontology (GO) - Molecular Function for RFC4 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 IEA --
genes like me logo Genes that share ontologies with RFC4: view
genes like me logo Genes that share phenotypes with RFC4: view

Animal Model Products

miRNA for RFC4 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RFC4 Gene

Localization for RFC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFC4 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 RFC4 gene
Compartment Confidence
nucleus 5
cytosol 4
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RFC4 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 RFC4: view

Pathways & Interactions for RFC4 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 RFC4: view

Gene Ontology (GO) - Biological Process for RFC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication TAS --
GO:0006261 DNA-dependent DNA replication IBA --
GO:0006271 DNA strand elongation involved in DNA replication TAS 7774928
GO:0006281 DNA repair IBA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
genes like me logo Genes that share ontologies with RFC4: view

No data available for SIGNOR curated interactions for RFC4 Gene

Drugs & Compounds for RFC4 Gene

(1) Drugs for RFC4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with RFC4: view

Transcripts for RFC4 Gene

mRNA/cDNA for RFC4 Gene

Unigene Clusters for RFC4 Gene

Replication factor C (activator 1) 4, 37kDa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RFC4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1: - - -
SP2: - - -
SP3:
SP4: -

Relevant External Links for RFC4 Gene

GeneLoc Exon Structure for
RFC4
ECgene alternative splicing isoforms for
RFC4

Expression for RFC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RFC4 Gene

Protein differential expression in normal tissues from HIPED for RFC4 Gene

This gene is overexpressed in Lymph node (10.3), Bone (6.8), Lung (6.4), and Blymphocyte (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RFC4 Gene



Protein tissue co-expression partners for RFC4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RFC4 Gene:

RFC4

SOURCE GeneReport for Unigene cluster for RFC4 Gene:

Hs.732098

Evidence on tissue expression from TISSUES for RFC4 Gene

  • Nervous system(4.6)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with RFC4: 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 RFC4 Gene

Orthologs for RFC4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RFC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RFC4 34 33
  • 99.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RFC4 34 33
  • 91.57 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFC4 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RFC4 34 33
  • 90.98 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RFC4 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rfc4 16 34 33
  • 87.05 (n)
rat
(Rattus norvegicus)
Mammalia Rfc4 33
  • 86.41 (n)
chicken
(Gallus gallus)
Aves RFC4 34 33
  • 76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RFC4 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfc4 33
  • 75.05 (n)
Str.2301 33
African clawed frog
(Xenopus laevis)
Amphibia RFC2 33
zebrafish
(Danio rerio)
Actinopterygii RFC4 (2 of 2) 34
  • 72 (a)
OneToMany
rfc4 34 33
  • 66.57 (n)
OneToMany
wufb82e02 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5941 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003093 33
  • 54.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8142 34 35 33
  • 52.76 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rfc-4 34 35
  • 42 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RFC2 36 34 33
  • 54.96 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13992g 33
  • 54.63 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR422W 33
  • 53.73 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB1968 33
  • 57.66 (n)
rice
(Oryza sativa)
Liliopsida Os12g0176500 33
  • 56.35 (n)
Os.276 33
wheat
(Triticum aestivum)
Liliopsida Ta.6784 33
barley
(Hordeum vulgare)
Liliopsida Hv.5404 33
corn
(Zea mays)
Liliopsida Zm.2942 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 65 (a)
OneToOne
Cin.8604 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rfc2 33
  • 54.12 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02687 33
  • 53.23 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8604 33
Species where no ortholog for RFC4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RFC4 Gene

ENSEMBL:
Gene Tree for RFC4 (if available)
TreeFam:
Gene Tree for RFC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RFC4: view image

Paralogs for RFC4 Gene

(2) SIMAP similar genes for RFC4 Gene using alignment to 10 proteins:

  • RFC4_HUMAN
  • B4DM41_HUMAN
  • C9J8M3_HUMAN
  • C9JGY5_HUMAN
  • C9JTT7_HUMAN
  • C9JW34_HUMAN
  • C9JXZ7_HUMAN
  • C9JZI1_HUMAN
  • F8WE44_HUMAN
  • H7C1P0_HUMAN
genes like me logo Genes that share paralogs with RFC4: view

No data available for Paralogs for RFC4 Gene

Variants for RFC4 Gene

Sequence variations from dbSNP and Humsavar for RFC4 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
VAR_036121 A breast cancer sample p.Thr354Ser
rs1000137955 -- 186,800,119(-) CTACT/CT intron_variant
rs1000593265 -- 186,791,427(-) G/A/T intron_variant
rs1000839969 -- 186,799,888(-) A/C intron_variant
rs1001190947 -- 186,798,150(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RFC4 Gene

Variant ID Type Subtype PubMed ID
dgv5005n100 CNV gain 25217958
esv1293846 CNV deletion 17803354
esv2759206 CNV loss 17122850
esv34136 CNV loss 18971310
esv3893839 CNV gain 25118596
nsv1001111 CNV gain 25217958
nsv1012615 CNV gain 25217958
nsv10365 CNV loss 18304495
nsv526938 CNV gain 19592680

Variation tolerance for RFC4 Gene

Residual Variation Intolerance Score: 53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.01; 37.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RFC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFC4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFC4 Gene

Disorders for RFC4 Gene

Additional Disease Information for RFC4

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

No disorders were found for RFC4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RFC4 Gene

Publications for RFC4 Gene

  1. 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 44 58
  2. 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 44 58
  3. Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PMID: 20574454) Arora M … Thyagarajan B (Leukemia 2010) 3 44 58
  4. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for RFC4 Gene

Sources for RFC4 Gene