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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RFC4 Gene

protein-coding   GIFtS: 67
GCID: GC03M186507

Replication Factor C (Activator 1) 4, 37kDa

(Previous name: replication factor C (activator 1) 4 (37kD))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Replication Factor C (Activator 1) 4, 37kDa1 2     RFC372 3
A1 37 KDa Subunit1 2 3     RF-C 37 KDa Subunit2 3
Activator 1 37 KDa Subunit1 2 3     Replication Factor C (Activator 1) 4 (37kD)1
RFC 37 KDa Subunit1 2     A12
Activator 1 Subunit 42 3     Replication Factor C Subunit 42
Replication Factor C 37 KDa Subunit2 3     

External Ids:    HGNC: 99721   Entrez Gene: 59842   Ensembl: ENSG000001639187   OMIM: 1025775   UniProtKB: P352493   

Export aliases for RFC4 gene to outside databases

Previous GC identifers: GC03M183282 GC03M187764 GC03M187909 GC03M187828 GC03M187990 GC03M183917


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (activator 1) 4, 37kDa) is a protein-coding gene. Diseases associated with RFC4 include graft versus host disease, and multiple sclerosis, and among its related super-pathways are Lagging Strand Synthesis and Global Genomic NER (GG-NER). GO annotations related to this gene include nucleoside-triphosphatase activity and ATP binding.

UniProtKB/Swiss-Prot: RFC4_HUMAN, P35249
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

Gene Wiki entry for RFC4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RFC4 gene promoter:
         MEF-2A   Max   Sp1   aMEF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRFC4 promoter sequence
   Search SABiosciences Chromatin IP Primers for RFC4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RFC4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q27   Ensembl cytogenetic band:  3q27.3   HGNC cytogenetic band: 3q27

RFC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RFC4 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M186507:  view genomic region     (about GC identifiers)

Start:
186,507,669 bp from pter      End:
186,524,847 bp from pter
Size:
17,179 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RFC4_HUMAN, P35249 (See protein sequence)
Recommended Name: Replication factor C subunit 4  
Size: 363 amino acids; 39682 Da
Subunit: 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
Subcellular location: Nucleus (Probable)
Miscellaneous: Despite of the presence of a putative ATP-binding motif, this protein does not bind ATP
Secondary accessions: D3DNV2 Q6FHX7

Explore the universe of human proteins at neXtProt for RFC4: NX_P35249

Explore proteomics data for RFC4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35249

  • RFC4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RFC4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_002907.1  NP_853551.1  

    ENSEMBL proteins: 
     ENSP00000399769   ENSP00000296273   ENSP00000401429   ENSP00000411300   ENSP00000394870  
     ENSP00000413065   ENSP00000407982   ENSP00000415099   ENSP00000399314   ENSP00000376272  
    Reactome Protein details: P35249
    Human Recombinant Protein Products for RFC4: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for RFC4
    OriGene Protein Over-expression Lysate for RFC4
    OriGene MassSpec for RFC4 
    OriGene Custom Protein Services for RFC4
    GenScript Custom Purified and Recombinant Proteins Services for RFC4
    Novus Biologicals RFC4 Proteins
    Novus Biologicals RFC4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RFC4 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005663DNA replication factor C complex IDA9488738

    RFC4 for ontologies           About GeneDecksing



    RFC4 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for RFC4
    OriGene Custom Antibody Services for RFC4
    GenScript Custom Superior Antibodies Services for RFC4
    Novus Biologicals RFC4 Antibodies
    Abcam antibodies for RFC4
    Cloud-Clone Corp. Antibodies for RFC4 
    ThermoFisher Antibody for RFC4
    LSBio Antibodies in human, mouse, rat for RFC4 

    Assay Products for RFC4: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RFC4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RFC4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RFC4 
    Cloud-Clone Corp. CLIAs for RFC4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    AATP: ATPases / AAA-type

    5 InterPro protein domains:
     IPR003959 ATPase_AAA_core
     IPR008921 DNA_pol3_clamp-load_cplx_C
     IPR013748 Rep_factorC_C_dom
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry P35249

    ProtoNet protein and cluster: P35249

    1 Blocks protein domain: IPB013748 Replication factor C

    UniProtKB/Swiss-Prot: RFC4_HUMAN, P35249
    Similarity: Belongs to the activator 1 small subunits family


    RFC4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RFC4_HUMAN, P35249
    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 entry for RFC4:
    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

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI15655353
    GO:0005524ATP binding IEA--
    GO:0017111nucleoside-triphosphatase activity IEA--
         
    RFC4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RFC4:
     Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RFC4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RFC4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RFC4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RFC4 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFC4
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate RFC4
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RFC4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFC4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RFC4
    Sirion Biotech Customized adenovirus for overexpression of RFC4

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for RFC4 (see all 14)
    OriGene ORF clones in mouse, rat for RFC4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RFC4 (NM_002916)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RFC4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFC4
    Sirion Biotech Customized lentivirus for stable overexpression of RFC4 
                         Customized lentivirus expression plasmids for stable overexpression of RFC4 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RFC4
    Search LifeMap BioReagents cell lines for RFC4
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFC4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RFC4 About   (see all 11)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Lagging Strand Synthesis
    Gap-filling DNA repair synthesis and ligation in TC-NER0.94
    Leading Strand Synthesis0.70
    Gap-filling DNA repair synthesis and ligation in GG-NER0.94
    Polymerase switching0.70
    Repair synthesis for gap-filling by DNA polymerase in TC-NER0.94
    Polymerase switching on the C-strand of the telomere0.70
    Repair synthesis of patch ~27-30 bases long by DNA polymerase0.94
    DNA strand elongation0.65
    2Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.70
    Nucleotide Excision Repair Pathway0.49
    Nucleotide excision repair0.70
    3Cell cycle Transition and termination of DNA replacation
    Cell cycle Transition and termination of DNA replication0.95
    Cell cycle Transition and termination of DNA replacation0.95
    4CDK-mediated phosphorylation and removal of Cdc6
    Synthesis of DNA0.79
    DNA Replication0.78
    S Phase0.79
    Cell Cycle Checkpoints0.58
    5Nucleotide Excision Repair
    Nucleotide Excision Repair0.90
    DNA Repair0.46
    Transcription-coupled NER (TC-NER)0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for RFC4
        Cell cycle Transition and termination of DNA replacation

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RFC4
        Mismatch Repair in Eukaryotes
    Nucleotide Excision Repair Pathway

    1 GeneGo (Thomson Reuters) Pathway for RFC4
        Cell cycle Transition and termination of DNA replication

    2 BioSystems Pathways for RFC4
        Gastric cancer network 2
    DNA Replication

    5/25        Reactome Pathways for RFC4 (see all 25)
        Extension of Telomeres
    Telomere Maintenance
    DNA Repair
    Activation of ATR in response to replication stress
    Leading Strand Synthesis


    3         Kegg Pathways  (Kegg details for RFC4):
        DNA replication
    Nucleotide excision repair
    Mismatch repair


    RFC4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RFC4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/867 Interacting proteins for RFC4 (P352491, 2, 3 ENSP000002962734) via UniProtKB, MINT, STRING, and/or I2D (see all 867)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC1Q135472, 3, ENSP000003626494MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000362649
    RUVBL2Q9Y2302, 3, ENSP000002214134MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000221413
    SNRNP200O756432, 3MINT-7945693 MINT-7947479 I2D: score=4 
    TCP1P179872, 3MINT-7945693 MINT-7947479 I2D: score=3 
    POLD1P283402, 3MINT-7945693 MINT-7947479 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--
    GO:0000723telomere maintenance TAS--
    GO:0006260DNA replication TAS--
    GO:0006271DNA strand elongation involved in DNA replication TAS--

    RFC4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RFC4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RFC4

    1 Novoseek inferred chemical compound relationship for RFC4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 37.1 2 1670772 (2)

    Search CenterWatch for drugs/clinical trials and news about RFC4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RFC4 gene (2 alternative transcripts): 
    NM_002916.3  NM_181573.2  

    Unigene Cluster for RFC4:

    Replication factor C (activator 1) 4, 37kDa
    Hs.732098  [show with all ESTs]
    Unigene Representative Sequence: NM_181573
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000433496 ENST00000479307 ENST00000296273(uc003fqz.3) ENST00000417876
    ENST00000494047(uc011bsd.2) ENST00000460408 ENST00000418288 ENST00000449502
    ENST00000447345 ENST00000489028 ENST00000427785 ENST00000448497 ENST00000411792
    ENST00000392481(uc011bsc.2)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFC4
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate RFC4
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RFC4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFC4
    Clone
    Products:
         
    OriGene clones in human, mouse for RFC4 (see all 14)
    OriGene ORF clones in mouse, rat for RFC4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RFC4 (NM_002916)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RFC4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFC4
    Sirion Biotech Customized lentivirus for stable overexpression of RFC4 
                         Customized lentivirus expression plasmids for stable overexpression of RFC4 
    Primer
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    OriGene qPCR primer pairs and template standards for RFC4
    OriGene qSTAR qPCR primer pairs in human, mouse for RFC4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RFC4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RFC4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFC4

    Additional mRNA sequence: 

    AK297282.1 BC017452.1 BC024022.1 BT006987.1 CR536561.1 

    24/26 DOTS entries (see all 26):

    DT.87016306  DT.100868317  DT.95352196  DT.95378443  DT.100650807  DT.214260  DT.100059274  DT.100718855 
    DT.92054629  DT.87000025  DT.120915857  DT.120915952  DT.120915728  DT.91855254  DT.92471144  DT.100704108 
    DT.40111645  DT.95367045  DT.121345669  DT.214259  DT.91813486  DT.92471170  DT.92471199  DT.95171480 

    24/300 AceView cDNA sequences (see all 300):

    CR594581 AI200322 BU170012 CR536561 BM800308 AL526272 AW327326 AL042687 
    CA310578 CR616552 NM_181573 BP338080 CB164230 BQ441143 BU158657 BU169798 
    AL601693 AL525156 AA747481 CA773606 F08084 AA354089 CR608475 BE695818 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RFC4    About this scheme

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


    ECgene alternative splicing isoforms for RFC4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RFC4 expression in normal human tissues (normalized intensities)      RFC4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTGGTTGT
    RFC4 Expression
    About this image


    RFC4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/32 selected tissues (see all 32) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Hippocampus
     
     Breast
             breast ; myoepithelial cells   

    See RFC4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RFC4

    SOURCE GeneReport for Unigene cluster: Hs.732098
        SABiosciences Custom PCR Arrays for RFC4
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for RFC4
    OriGene qSTAR qPCR primer pairs in human, mouse for RFC4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RFC4
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RFC4
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFC4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFC4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RFC4 gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rfc41 , 5 replication factor C (activator 1) 41, 5 87.05(n)1
    91.18(a)1
      16 (13.93 cM)5
    1063441  NM_145480.11  NP_663455.11 
     231139435 
    chicken
    (Gallus gallus)
    Aves RFC41 replication factor C (activator 1) 4, 37kDa 76(n)
    84.31(a)
      424958  NM_001006550.1  NP_001006550.1 
    lizard
    (Anolis carolinensis)
    Reptilia RFC46
    Uncharacterized protein
    81(a)
    1 ↔ 1
    GL343321.1(80312-110295)
    African clawed frog
    (Xenopus laevis)
    Amphibia RFC22 replication factor C p37 subunit 76.64(n)    AB080268.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb82e022 Danio rerio cDNA clone MGC64030 IMAGE6793333, complete more 75.06(n)    BC054598.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG81421 , 3 DNA replication DNA binding3
    CG81421
    54(a)3
    53.03(n)1
    55.62(a)1
      16E13
    327631  NM_133017.31  NP_573245.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rfc-43 Replication factor C 43(a)   III(7043840-7045403)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RFC2(YJR068W)4
    RFC21
    Subunit of heteropentameric Replication factor C (RF-C), more4
    Rfc2p1
    55.17(n)1
    53.92(a)1
      10(567643-568704)4
    8535311, 4  NP_012602.31  NP_012602.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EMB19681 replication factor C subunit 2/4 57.56(n)
    57.14(a)
      838771  NM_102018.3  NP_564148.1 
    rice
    (Oryza sativa)
    Liliopsida Os.2762 Oryza sativa (japonica cultivar-group) OsRFC2 mRNA more 70.85(n)    AB045677.1 


    ENSEMBL Gene Tree for RFC4 (if available)
    TreeFam Gene Tree for RFC4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RFC4 gene
    2 SIMAP similar genes for RFC4 using alignment to 10 protein entries:     RFC4_HUMAN (see all proteins):
    RFC5    RFC2

    RFC4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/443 SNPs in RFC4 are shown (see all 443)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361214
    A breast cancer sample4--see VAR_0361212 T S mis40--------
    VAR_0143074
    ----see VAR_0143072 V A mis40--------
    rs738860801,2
    C,F--186508210(+) TGAATG/ATTCGG 2 -- int13Minor allele frequency- A:0.01WA EU 1437
    rs2004824261,2
    --186508213(+) ATGTTC/TGGTAT 2 -- int10--------
    rs1449484981,2
    C--186508214(+) TGTTCA/GGTATT 2 -- int10--------
    rs22347511,2
    C,F--186508247(-) AGTGT-/TATGTC 2 -- int12Minor allele frequency- T:0.17NA NS 266
    rs1909470911,2
    C--186508268(+) GCCCCC/TGTGCC 2 -- int10--------
    rs39171401,2
    C,F--186508269(-) GGGCAC/TGGGGG 2 -- int11Minor allele frequency- T:0.01NS 132
    rs2667591,2
    C,F,O,A,H--186508312(+) ACTTTT/CCTGGG 2 -- int136Minor allele frequency- C:0.49EA NA NS MN WA CSA 3148
    rs1824517591,2
    --186508324(+) AGGCTG/TTGGGA 2 -- int10--------

    HapMap Linkage Disequilibrium report for RFC4 (186507669 - 186524847 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for RFC4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1293846CNV Deletion17803354
    esv34136CNV Loss18971310
    nsv10365CNV Loss18304495
    nsv526938CNV Gain19592680
    dgv1541e1CNV Complex17122850

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 102577    OMIM disorders: --

    5 diseases for RFC4:    About MalaCards
    graft versus host disease    multiple sclerosis    hepatocellular carcinoma    gastric cancer
    prostatitis


    RFC4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RFC4
    Human Genome Epidemiology (HuGE) Navigator: RFC4 (7 documents)

    Export disorders for RFC4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RFC4 gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with RFC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (2010)
    2. Association between genetic variants in the base exci sion repair pathway and outcomes after hematopoietic cell transplantations. (PubMed id 20226869)1, 4 Thyagarajan B....Arora M. (2010)
    3. Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PubMed id 20574454)1, 4 Arora M....Thyagarajan B. (2010)
    4. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Purification and characterization of human DNA damage checkpoint Rad complexes. (PubMed id 11572977)1, 2 Lindsey-Boltz L.A.... Sancar A. (2001)
    7. Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23. (PubMed id 7774928)1, 3 Okumura K....Ozawa K. (1995)
    8. Studies of the cloned 37-kDa subunit of activator 1 (replication factor C) of HeLa cells. (PubMed id 1351677)1, 2 Chen M.... Hurwitz J. (1992)
    9. Identification of UHRF1/2 as new N-methylpurine DNA gl ycosylase-interacting proteins. (PubMed id 23537643)1 Liang C....Zhang L. (2013)
    10. The human EKC/KEOPS complex is recruited to Cullin2 ub iquitin ligases by the human tumour antigen PRAME. (PubMed id 22912744)1 Costessi A....Stunnenberg H.G. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5984 HGNC: 9972 AceView: RFC4 Ensembl:ENSG00000163918 euGenes: HUgn5984
    ECgene: RFC4 Kegg: 5984 H-InvDB: RFC4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RFC4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RFC4 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/rfc4/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RFC4 gene:
    Search GeneIP for patents involving RFC4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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     Regulatory tfbs in RFC4 promoter
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     Proteins for RFC4
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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