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

RFC4 Gene

protein-coding   GIFtS: 65
GCID: GC03M186507

replication factor C (activator 1) 4, 37kDa

(Previous name: replication factor C (activator 1) 4 (37kD) )
 Explore 7 diseases affiliated with
RFC4 via our new
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Biological research products
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Replication Factor C (Activator 1) 4, 37kDa1 2     A1 37 KDa Subunit2 3
RFC371 2 3     RF-C 37 KDa Subunit2 3
A11 2     Replication Factor C (Activator 1) 4 (37kD)1
Activator 1 37 KDa Subunit2 3     Replication Factor C Subunit 42
Activator 1 Subunit 42 3     RFC 37 KDa Subunit2
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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35249

  • RFC4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins (see all 2): RFC4
    OriGene Protein Over-expression Lysate (see all 2): 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 ProSpec Recombinant Proteins
    Uscn 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: 
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    Novus Biologicals RFC4 Antibodies
    Abcam antibodies for RFC4 
    Uscn Antibodies for RFC4
    ThermoFisher Antibody for RFC4

    Assay Products for RFC4: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RFC4
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for RFC4


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RFC4 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR003959 ATPase_AAA_core
     IPR008921 DNA_pol3_clamp-load_cplx_C
     IPR013748 Rep_factorC_C_dom
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry P35249

    ProtoNet protein and cluster: P35249

    1 Blocks protein family: IPB013748 Replication factor C

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RFC4 (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFC4

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): RFC4 (NM_002916)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFC4 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFC4

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI16189514
    GO:0005524ATP binding IEA--
    GO:0017111nucleoside-triphosphatase activity IEA--


    RFC4 for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lagging Strand Synthesis
    8/14 pathways (see all 14)
    Lagging Strand Synthesis1.00
    Gap-filling DNA repair synthesis and ligation in TC-NER0.64
    Telomere C-strand (Lagging Strand) Synthesis0.91
    Gap-filling DNA repair synthesis and ligation in GG-NER0.64
    Extension of Telomeres0.83
    Repair synthesis of patch ~27-30 bases long by DNA polymerase0.59
    Polymerase switching on the C-strand of the telomere0.70
    Repair synthesis for gap-filling by DNA polymerase in TC-NER0.59
    2Ubiquitinated Orc1 is degraded by the proteasome
    Synthesis of DNA0.51
    Cell Cycle Checkpoints0.42
    DNA Replication0.49
    S Phase0.40
    3Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)1.00
    Nucleotide Excision Repair Pathway0.49
    Nucleotide excision repair0.70
    4Nucleotide Excision Repair
    Nucleotide Excision Repair1.00
    DNA Repair0.46
    Transcription-coupled NER (TC-NER)0.90
    5Activation of ATR in response to replication stress
    Activation of ATR in response to replication stress1.00
    G2/M Checkpoints0.86

    Pathway sources
    See GeneCards unified pathways
    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

    1 BioSystems Pathway for RFC4 
        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)

    5/830 Interacting proteins for RFC4 (P352491, 2, 3 ENSP000002962734) via UniProtKB, MINT, STRING, and/or I2D (see all 830)
    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): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint TAS--
    GO:0000084S phase of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--
    GO:0000723telomere maintenance TAS--


    RFC4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
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    OriGene 3'-UTR Clone (see all 2): RFC4
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    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RFC4 (see all 7)
    OriGene shRNA RFP: RFC4
    OriGene siRNA: RFC4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFC4
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RFC4 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RFC4 (see all 3)
    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)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFC4 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFC4

    Additional cDNA sequence: 

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

    24/30 DOTS entries (see all 30):

    DT.87016306  DT.100868317  DT.95352196  DT.214260  DT.95378443  DT.100650807  DT.100059274  DT.100718855 
    DT.92054629  DT.87000025  DT.120915857  DT.92471144  DT.100704108  DT.100704106  DT.120915952  DT.120915728 
    DT.91855254  DT.95366981  DT.95367045  DT.40111645  DT.92471199  DT.100704120  DT.100848057  DT.121345669 

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

    CR608475 BE695818 AA354089 BC024022 CR616552 F08084 CR625223 NM_181573 
    BM800308 CA773606 AW327326 BG498617 BU169798 AI189808 BM472875 AI200322 
    AA704058 AL042687 AL526272 BP338080 CR536561 AU132734 BQ441143 AL525156 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGTGGTTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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
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    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 9/41 species (see all 41)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    82(a)
    1 ↔ 1
    GL343321.1(83410-110295)
    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
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/376 NCBI SNPs in RFC4 are shown (see all 376    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs11032971,2
    C--183930573(+) tgggaG/Agccaa 1 -- int11Minor allele frequency- A:0.50NA 2
    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,--186508246(-) AGTGT-/TATGTC 2 -- int11Minor allele frequency- T:0.15NA 86
    rs39171411,2
    F--186508248(-) GAGTG-/TTATGT 2 -- int11Minor allele frequency- T:0.18NS 180
    rs1909470911,2
    --186508268(+) GCCCCC/TGTGCC 2 -- int10--------
    rs39171401,2
    C,--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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for RFC4
         3 CNVs: 47856 3467 32540
         1 Indel: 27248

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RFC4
    DNA2.0 Custom Variant and Variant Library Synthesis for RFC4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RFC4 for disorders           About GeneDecksing

    OMIM gene information: 102577    OMIM disorders: --

    7 diseases for RFC4:    About MalaCards
    graft versus host disease    multiple sclerosis    hepatocellular carcinoma    immunodeficiency
    carcinoma    malaria    prostatitis

    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 70):
    (articles sorted by number of sources associating them with RFC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Purification and characterization of human DNA damage checkpoint Rad complexes. (PubMed id 11572977)1, 2 Lindsey-Boltz L.A.... Sancar A. (2001)
    3. 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)
    4. 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)
    5. 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)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    8. Genetic associations for activated partial thromboplas tin time and prothrombin time, their gene expression profiles, and risk of coron ary artery disease. (PubMed id 22703881)1 Tang W....Folsom A.R. (2012)
    9. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    10. NOTCH1 nuclear interactome reveals key regulators of i ts transcriptional activity and oncogenic function. (PubMed id 23022380)1 Yatim A....Benkirane M. (2012)

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

      Query String
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    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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     Regulatory tfbs in RFC4 promoter
     Search Chromatin IP Primers for RFC4
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