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RFC1 Gene

protein-coding   GIFtS: 67
GCID: GC04M039291

Replication Factor C (Activator 1) 1, 145kDa

(Previous name: replication factor C (activator 1) 1 (145kD))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Replication Factor C (Activator 1) 1, 145kDa1 2     RECC12 5
Activator 1 140 KDa Subunit2 3     Replication Factor C (Activator 1) 1 (145kD)1
Activator 1 Large Subunit2 3     A12
Activator 1 Subunit 12 3     MHCBFB2
Replication Factor C 140 KDa Subunit2 3     PO-GA2
Replication Factor C Large Subunit2 3     RFC2
RFC1402 3     MHC Binding Factor, Beta2
A1 140 KDa Subunit2 3     Replication Factor C Subunit 12
DNA-Binding Protein PO-GA2 3     Replication Factor C12
RF-C 140 KDa Subunit2 3     

External Ids:    HGNC: 99691   Entrez Gene: 59812   Ensembl: ENSG000000359287   OMIM: 1025795   UniProtKB: P352513   

Export aliases for RFC1 gene to outside databases

Previous GC identifers: GC04M039463 GC04M039123 GC04M039186 GC04M039111 GC04M038965 GC04M038615


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RFC1 Gene:
This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein,
which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an
activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands.
It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different
isoforms have been noted for this gene. (provided by RefSeq, Mar 2011)

GeneCards Summary for RFC1 Gene:
RFC1 (replication factor C (activator 1) 1, 145kDa) is a protein-coding gene. Diseases associated with RFC1 include homocysteine plasma level, and pediatric osteosarcoma. GO annotations related to this gene include DNA clamp loader activity and enzyme activator activity.

UniProtKB/Swiss-Prot: RFC1_HUMAN, P35251
Function: The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the
accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B
transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation
as well as DNA replication and/or repair. Can bind single- or double-stranded DNA
Function: Interacts with C-terminus of PCNA. 5' phosphate residue is required for binding of the N-terminal
DNA-binding domain to duplex DNA, suggesting a role in recognition of non-primer template DNA structures during
replication and/or repair

Gene Wiki entry for RFC1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_006238.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the RFC1 gene promoter:
         POU2F1   Sp1   POU2F1a   FOXO4   aMEF-2   C/EBPalpha   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRFC1 promoter sequence
   Search Chromatin IP Primers for RFC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RFC1


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

Entrez Gene cytogenetic band: 4p14-p13   Ensembl cytogenetic band:  4p14   HGNC cytogenetic band: 4p14-p13

RFC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RFC1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M039291:  view genomic region     (about GC identifiers)

Start:
39,289,069 bp from pter      End:
39,368,001 bp from pter
Size:
78,933 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RFC1_HUMAN, P35251 (See protein sequence)
Recommended Name: Replication factor C subunit 1  
Size: 1148 amino acids; 128255 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
3 PDB 3D structures from and Proteopedia for RFC1:
2EBU (3D)        2K6G (3D)        2K7F (3D)    
Secondary accessions: A8K6E7 Q5XKF5 Q6PKU0 Q86V41 Q86V46
Alternative splicing: 2 isoforms:  P35251-1   P35251-2   (Alternative use of an acceptor site)

Explore the universe of human proteins at neXtProt for RFC1: NX_P35251

Explore proteomics data for RFC1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys243, Lys468, Lys551, Lys556, Lys645, Lys700
  • Modification sites at PhosphoSitePlus

  • See RFC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001191676.1  NP_002904.3  

    ENSEMBL proteins: 
     ENSP00000261424   ENSP00000371321   ENSP00000424713   ENSP00000422129   ENSP00000422475  
     ENSP00000422740  
    Reactome Protein details: P35251

    RFC1 Human Recombinant Protein Products:

    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for RFC1
    GenScript Custom Purified and Recombinant Proteins Services for RFC1
    Novus Biologicals RFC1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RFC1

    RFC1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of RFC1
    R&D Systems Antibodies for RFC1
    OriGene Antibodies for RFC1
    OriGene Custom Antibody Services for RFC1
    Novus Biologicals RFC1 Antibodies
    Abcam antibodies for RFC1
    Cloud-Clone Corp. Antibodies for RFC1
    ThermoFisher Antibodies for RFC1
    LSBio Antibodies in human, mouse, rat for RFC1

    RFC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RFC1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RFC1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RFC1
    Cloud-Clone Corp. CLIAs for RFC1


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

    Selected InterPro protein domains (see all 7):
     IPR013725 DNA_replication_fac_RFC1_C
     IPR003959 ATPase_AAA_core
     IPR008921 DNA_pol3_clamp-load_cplx_C
     IPR012178 DNA_replication_fac_C_lsu
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P35251

    ProtoNet protein and cluster: P35251

    2 Blocks protein domains:
    IPB001357 BRCT domain
    IPB013725 DNA replication factor C-terminal


    UniProtKB/Swiss-Prot: RFC1_HUMAN, P35251
    Similarity: Belongs to the activator 1 large subunit family
    Similarity: Contains 1 BRCT domain


    RFC1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RFC1_HUMAN, P35251
    Function: The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the
    accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B
    transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation
    as well as DNA replication and/or repair. Can bind single- or double-stranded DNA
    Function: Interacts with C-terminus of PCNA. 5' phosphate residue is required for binding of the N-terminal
    DNA-binding domain to duplex DNA, suggesting a role in recognition of non-primer template DNA structures during
    replication and/or repair

         Genatlas biochemistry entry for RFC1:
    replication factor C1,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): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003677DNA binding ----
    GO:0003689DNA clamp loader activity IEA--
    GO:0003690double-stranded DNA binding IEA--
    GO:0005515protein binding IPI15655353
         
    RFC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Rfc1 (no phenotypes)

    RFC1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RFC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RFC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RFC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RFC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target RFC1:
    hsa-mir-222-3p (MIRT046779), hsa-mir-324-3p (MIRT042834)

    Block miRNA regulation of human, mouse, rat RFC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RFC1 (see all 20):
    hsa-miR-579 hsa-miR-3130-5p hsa-miR-3149 hsa-miR-345 hsa-miR-520d-5p hsa-miR-875-5p hsa-miR-3921 hsa-miR-197
    SwitchGear 3'UTR luciferase reporter plasmidRFC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RFC1
    Predesigned siRNA for gene silencing in human, mouse, rat RFC1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RFC1

    Clone
    Products:
         
    OriGene clones in human, mouse for RFC1 (see all 6)
    OriGene ORF clones in mouse, rat for RFC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RFC1 (NM_002913)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RFC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFC1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RFC1
    Browse ESI BIO Cell Lines and PureStem Progenitors for RFC1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RFC1_HUMAN, P35251: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005663DNA replication factor C complex IDA9488738
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm ----

    RFC1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RFC1 About   (see all 11)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Telomere C-strand (Lagging Strand) Synthesis
    Gap-filling DNA repair synthesis and ligation in TC-NER0.94
    Cell cycle Transition and termination of DNA replication0.43
    Repair synthesis of patch ~27-30 bases long by DNA polymerase0.94
    Mismatch repair0.00
    Telomere C-strand (Lagging Strand) Synthesis0.79
    Polymerase switching on the C-strand of the telomere0.00
    Extension of Telomeres0.79
    Lagging Strand Synthesis0.00
    2Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Nucleotide Excision Repair Pathway0.48
    Nucleotide excision repair0.69
    3DNA strand elongation
    DNA strand elongation0.63
    DNA replication0.63
    4DNA Repair
    Transcription-coupled NER (TC-NER)0.90
    DNA Repair0.45
    Nucleotide Excision Repair0.90
    5CDK-mediated phosphorylation and removal of Cdc6
    Synthesis of DNA0.92
    S Phase0.78
    DNA Replication0.92

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RFC1
        Mismatch Repair in Eukaryotes
    Nucleotide Excision Repair Pathway

    1 GeneGo (Thomson Reuters) Pathway for RFC1
        Cell cycle Transition and termination of DNA replication

    5 BioSystems Pathways for RFC1
        DNA damage response
    Mismatch repair
    miRNA Regulation of DNA Damage Response
    DNA Replication
    FAS (CD95) signaling pathway

    4 Reactome Pathways for RFC1
        Polymerase switching on the C-strand of the telomere
    Repair synthesis for gap-filling by DNA polymerase in TC-NER
    Polymerase switching
    Repair synthesis of patch ~27-30 bases long by DNA polymerase


    3 Kegg Pathways  (Kegg details for RFC1):
        DNA replication
    Nucleotide excision repair
    Mismatch repair


    RFC1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RFC1: 
              Telomeres & Telomerase in human mouse rat
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RFC1

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

    Selected Interacting proteins for RFC1 (P352511, 2, 3 ENSP000002614244) via UniProtKB, MINT, STRING, and/or I2D (see all 265)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=3 STRING: ENSP00000352980
    HIST1H4CP628053, ENSP000003670344I2D: score=3 STRING: ENSP00000367034
    HIST1H4DP628053, ENSP000003432824I2D: score=3 STRING: ENSP00000343282
    HIST1H4EP628053, ENSP000003536244I2D: score=3 STRING: ENSP00000353624
    HIST1H4HP628053, ENSP000002893524I2D: score=3 STRING: ENSP00000289352
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--
    GO:0000723telomere maintenance TAS--
    GO:0006260DNA replication ----

    RFC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RFC1

    6 Novoseek inferred chemical compound relationships for RFC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphocellulose 49.3 2 1671044 (1), 9525597 (1)
    atp 47.3 34 16980295 (6), 11121020 (4), 9582326 (3), 9632802 (3) (see all 12)
    atpgammas 36.7 4 9632802 (2), 11121020 (1)
    alanine 3.67 2 8521831 (1), 9734782 (1)
    adp 0 2 11121020 (1)
    arginine 0 2 16980295 (1)



    RFC1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RFC1 gene (2 alternative transcripts): 
    NM_001204747.1  NM_002913.4  

    Unigene Cluster for RFC1:

    Replication factor C (activator 1) 1, 145kDa
    Hs.507475  [show with all ESTs]
    Unigene Representative Sequence: BC051786
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000349703 ENST00000381897(uc003gtx.2 uc003gty.2) ENST00000510783
    ENST00000502991 ENST00000504974 ENST00000514572 ENST00000505077 ENST00000504554
    ENST00000502706 ENST00000509084 ENST00000512881 ENST00000512726 ENST00000418436(uc003gtz.2)
    ENST00000504849 ENST00000512275 ENST00000503784

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RFC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RFC1 (see all 20):
    hsa-miR-579 hsa-miR-3130-5p hsa-miR-3149 hsa-miR-345 hsa-miR-520d-5p hsa-miR-875-5p hsa-miR-3921 hsa-miR-197
    SwitchGear 3'UTR luciferase reporter plasmidRFC1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RFC1
    Predesigned siRNA for gene silencing in human, mouse, rat RFC1
    Clone
    Products:
         
    OriGene clones in human, mouse for RFC1 (see all 6)
    OriGene ORF clones in mouse, rat for RFC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RFC1 (NM_002913)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RFC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFC1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for RFC1
    OriGene qSTAR qPCR primer pairs in human, mouse for RFC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RFC1
      QuantiTect SYBR Green Assays in human, mouse, rat RFC1
      QuantiFast Probe-based Assays in human, mouse, rat RFC1

    Additional mRNA sequence: 

    AF040250.1 AJ564999.1 AK291612.1 BC010387.1 BC035297.1 BC051751.1 BC051786.2 BX648140.1 
    L24783.1 X69821.1 

    12 DOTS entries:

    DT.75147194  DT.97861160  DT.100026644  DT.121231178  DT.100793839  DT.101963764  DT.40119865  DT.100793845 
    DT.121231164  DT.121231168  DT.91751232  DT.95375863 

    Selected AceView cDNA sequences (see all 276):

    BM664715 BQ773655 CK826182 AI654690 BX497395 AJ564999 BC051751 AI824848 
    BC035297 CR606083 BM559251 BU521339 F06520 AI917338 CA313507 BX443721 
    BU145587 AI632440 BM800478 AI337154 BM840962 AL135374 CF138163 AL707869 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RFC1 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^
    SP1:                                                                    -     -                                                                                 
    SP2:                    -                                                                                                                                       
    SP3:                    -                             -                                                                                                         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                        -   

    ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:                                                        -                                 
    SP5:                                                                                          


    ECgene alternative splicing isoforms for RFC1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RFC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTGGTCTG
    RFC1 Expression
    About this image

    RFC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RFC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.507475

    UniProtKB/Swiss-Prot: RFC1_HUMAN, P35251
    Tissue specificity: Wide tissue distribution. Undetectable in placental tissue

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RFC1: 
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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for RFC1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rfc11 , 5 replication factor C (activator 1) 11, 5 83.81(n)1
    83.57(a)1
      5 (33.61 cM)5
    196871  NM_011258.21  NP_035388.21 
     652618525 
    chicken
    (Gallus gallus)
    Aves RFC11 replication factor C (activator 1) 1, 145kDa 72.15(n)
    70.91(a)
      422788  NM_001006456.1  NP_001006456.1 
    lizard
    (Anolis carolinensis)
    Reptilia RFC16
    replication factor C (activator 1) 1, 145kDa
    64(a)
    1 ↔ 1
    5(73052259-73096819)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ626750.12   -- 75.91(n)    BJ626750.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BI891313.12   -- 76.56(n)    BI891313.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gnf11 , 3 DNA replication DNA binding3
    Germ line transcription factor 11
    42(a)3
    51.03(n)1
    48.48(a)1
      82E23
    406071  NM_001014605.31  NP_001014605.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rfc-13 replication factor C 140 KD subunit
    like
    42(a)   V(14645402-14648343)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RFC1(YOR217W)4
    RFC11
    Subunit of heteropentameric Replication factor C (RF-C), more4
    RFC11
    48.9(n)1
    41.03(a)1
      15(749301-751886)4
    8543921, 4  NP_014860.11, 4 


    ENSEMBL Gene Tree for RFC1 (if available)
    TreeFam Gene Tree for RFC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RFC1 gene
    1 SIMAP similar gene for RFC1 using alignment to 5 protein entries:     RFC1_HUMAN (see all proteins):
    LLDBP

    RFC1 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RFC1 (see all 1654)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs673577661,2
    C--39230428(+) AATAA-/GTGT  
     
    /GTGTGT
    GTGTG
    4 -- int1 cds11NA 2
    rs172888481,2
    C,F--39288744(-) ATACCC/TTTTAT 2 -- ds50012Minor allele frequency- T:0.02NS WA 296
    rs100195941,2
    C,F,A,H--39288747(+) AAGGGT/CATATT 2 -- ds500113Minor allele frequency- C:0.46NS NA WA CSA EA 554
    rs1853655711,2
    --39288748(+) AGGGCA/GTATTT 2 -- ds50010--------
    rs1382332061,2
    --39288812(+) ATCTTC/GGGTTT 2 -- ds50010--------
    rs173356191,2
    C,F--39288892(-) TTGAAT/CCTCCA 2 -- ds50019Minor allele frequency- C:0.03NS WA 960
    rs37332821,2
    C,F,H--39288944(+) CTTGCA/GTATCC 2 -- ds500112Minor allele frequency- G:0.08EA NS NA WA 2338
    rs731357831,2
    C,F--39288965(+) GAAATG/AGAAGA 2 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1446417461,2
    --39288987(+) AAAGCC/TAGCCT 2 -- ds50010--------
    rs1484803491,2
    --39289020(+) TTCCTA/GAAGCA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for RFC1 (39289069 - 39368001 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RFC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv878941CNV Gain21882294
    nsv878940CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RFC1
    DNA2.0 Custom Variant and Variant Library Synthesis for RFC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 102579    OMIM disorders: --

    Selected diseases for RFC1 (see all 48):    About MalaCards
    homocysteine plasma level    pediatric osteosarcoma    placental abruption    progeria
    west nile virus    neural tube defects    congenital heart defect    intracranial aneurysm
    spina bifida    shigellosis    psoriatic arthritis    cleft lip
    sporadic breast cancer    venous thrombosis    hyperhomocysteinemia    cleft palate
    down syndrome    osteosarcoma    retinoblastoma    graft versus host disease


    RFC1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for RFC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 26 4 15897598 (1), 12509469 (1), 12045192 (1)
    leukemia 0 1 9279361 (1)
    tumors 0 5 12509469 (2), 12045192 (1), 8144677 (1)

    Genetic Association Database (GAD): RFC1
    Human Genome Epidemiology (HuGE) Navigator: RFC1 (162 documents)

    Export disorders for RFC1 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)
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    PubMed articles for RFC1 gene, integrated from 10 sources (see all 288):
    (articles sorted by number of sources associating them with RFC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Replication factor C interacts with the C-terminal side of proliferating cell nuclear antigen. (PubMed id 8999859)1, 2, 9 Mossi R.... Huebscher U. (J. Biol. Chem. 1997)
    2. cDNAs encoding the large subunit of human replication factor C. (PubMed id 8248204)1, 2, 9 Bunz F.... Stillman B. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    3. MTR polymorphic variant A2756G and retinoblastoma risk in Brazilian children. (PubMed id 20310006)1, 4 de Lima E.L....Muniz M.T. (amp 2010)
    4. Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women. (PubMed id 20544798)1, 4 Summers C.M....Whitehead A.S. (Birth Defects Res. Part A Clin. Mol. Teratol. 2010)
    5. Genetic variation in homocysteine metabolism, cognition, and white matter lesions. (PubMed id 19019492)1, 4 de Lau L.M....Breteler M.M. (Neurobiol. Aging 2010)
    6. Relationship of the reduced folate carrier gene polymorphism G80A to methotrexate plasma concentration, toxicity, and disease outcome in childhood acute lymphoblastic leukemia. (PubMed id 20141435)1, 4 Faganel Kotnik B....Jazbec J. (amp 2010)
    7. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    8. The G allele of transcobalamin 2 c.776Ca89G is associated with an unfavorable lipoprotein profile. (PubMed id 20948192)1, 4 Semmler A....Linnebank M. (amp 2010)
    9. [Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women]. (PubMed id 20466634)1, 4 Liao Y.P....Zhang D. (Yi Chuan 2010)
    10. Folate pathway enzyme gene polymorphisms and the efficacy and toxicity of methotrexate in psoriatic arthritis. (PubMed id 20472929)1, 4 Chandran V....Gladman D.D. (J. Rheumatol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 5981 HGNC: 9969 AceView: RFC1 Ensembl:ENSG00000035928 euGenes: HUgn5981
    ECgene: RFC1 Kegg: 5981 H-InvDB: RFC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RFC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RFC1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/rfc1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RFC1 gene:
    Search GeneIP for patents involving RFC1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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