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    RFC2 replication factor C (activator 1) 2, 40kDa [ Homo sapiens (human) ]

    Gene ID: 5982, updated on 18-May-2013
    Official Symbol
    RFC2provided by HGNC
    Official Full Name
    replication factor C (activator 1) 2, 40kDaprovided by HGNC
    Primary source
    HGNC:9970
    See related
    Ensembl:ENSG00000049541; HPRD:02675; MIM:600404; Vega:OTTHUMG00000023239
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    A1; RFC40
    Summary
    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 replication factor C (RFC). RFC, also called activator 1, is a protein complex consisting of five distinct subunits of 145, 40, 38, 37, and 36.5 kD. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP. Deletion of this gene has been associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
    Location :
    7q11.23
    Sequence :
    Chromosome: 7; NC_000007.13 (73645832..73668738, complement)
    See RFC2 in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4H Neighboring gene microRNA 590 Neighboring gene linker for activation of T cells family, member 2 Neighboring gene CAP-GLY domain containing linker protein 2 Neighboring gene GTF2I repeat domain containing 1

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Protein Gene Interaction Pubs
    Tat, p14 tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme, which includes RFC, during Tat-mediated transactivation of the HIV-1 LTR PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    NP_852136.1 NP_002583.1 PCNA    BIND  PubMed RFC2 is a PCNA-binding protein 
    P35250 P12004 PCNA    HPRD  PubMed  
    P35250 P10644 PRKAR1A    HPRD  PubMed  
    P35250 P35251 RFC1    HPRD  PubMed  
    P35250 P35249 RFC4    HPRD  PubMed  
    P35250 P40937 RFC5    HPRD  PubMed  
    BioGRID:111914 BioGRID:107056 BARD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:107140 BRCA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:117036 BRD4    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111914 BioGRID:119650 C14orf166    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:119569 C22orf28    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:120937 CAND1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:114929 CHD1L    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:121991 CHTF18    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-fractionation; Reconstituted Complex 
    BioGRID:111914 BioGRID:120262 CHTF8    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111914 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:108019 DDX1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:108028 DDX11    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111914 BioGRID:122526 DSCC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111914 BioGRID:108223 ECT2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:108603 FLII    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:109217 GTF2F1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:110073 KRT18    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:114642 LRRFIP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:115014 MDC1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:110815 NEDD8    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111914 BioGRID:116625 PAXIP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:111142 PCNA    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:111914 BioGRID:111391 PMS1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111914 BioGRID:111404 PMS2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:111559 PRKAR1A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111914 BioGRID:111577 PRKDC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:111772 PURA    BioGRID  PubMed Co-fractionation 
    BioGRID:111914 BioGRID:111821 RAD17    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111914 BioGRID:121212 RAD18    BioGRID  PubMed Biochemical Activity 
    BioGRID:111914 BioGRID:111913 RFC1    BioGRID  PubMed Co-fractionation 
    BioGRID:111914 BioGRID:111915 RFC3    BioGRID  PubMed Co-fractionation 
    BioGRID:111914 BioGRID:111916 RFC4    BioGRID  PubMed Affinity Capture-Western; Co-fractionation; Co-purification; Reconstituted Complex 
    BioGRID:111914 BioGRID:111917 RFC5    BioGRID  PubMed Co-fractionation; Co-purification 
    BioGRID:111914 BioGRID:121244 SMARCAD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:113011 TP53BP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111914 BioGRID:116077 USP20    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111914 BioGRID:1205541 tat    BioGRID  PubMed Reconstituted Complex 
    • Activation of ATR in response to replication stress, organism-specific biosystem (from REACTOME)
      Activation of ATR in response to replication stress, organism-specific biosystemGenotoxic stress caused by DNA damage or stalled replication forks can lead to genomic instability. To guard against such instability, genotoxically-stressed cells activate checkpoint factors that ha...
    • BRCA1-associated genome surveillance complex (BASC), organism-specific biosystem (from KEGG)
      BRCA1-associated genome surveillance complex (BASC), organism-specific biosystemStructural complex; Genetic information processing; Repair system
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
    • DNA Replication, organism-specific biosystem (from WikiPathways)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • DNA Replication, organism-specific biosystem (from REACTOME)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • DNA replication, organism-specific biosystem (from KEGG)
      DNA replication, organism-specific biosystemA complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (D...
    • DNA replication, conserved biosystem (from KEGG)
      DNA replication, conserved biosystemA complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (D...
    • DNA strand elongation, organism-specific biosystem (from REACTOME)
      DNA strand elongation, organism-specific biosystemAccurate and efficient genome duplication requires coordinated processes to replicate two template strands at eucaryotic replication forks. Knowledge of the fundamental reactions involved in replicat...
    • Extension of Telomeres, organism-specific biosystem (from REACTOME)
      Extension of Telomeres, organism-specific biosystemTelomerase acts as reverse transcriptase in the elongation of telomeres (Smogorzewska and de Lange 2004).
    • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
      G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
    • Gap-filling DNA repair synthesis and ligation in GG-NER, organism-specific biosystem (from REACTOME)
      Gap-filling DNA repair synthesis and ligation in GG-NER, organism-specific biosystemThe resultant gap is filled by polymerase activities of Pol delta and Pol epsilon. Accessory replication protein complexes of RPA, PCNA and RFC play a role in this synthesis. DNA Ligase 1 seals the ...
    • Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystem (from REACTOME)
      Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystemPolymerization is carried out by DNA polymerases, delta and epsilon.
    • Global Genomic NER (GG-NER), organism-specific biosystem (from REACTOME)
      Global Genomic NER (GG-NER), organism-specific biosystemGG-NER is considered to be transcription-independent, removing lesions from non-transcribed regions of genome in addition to non-transcribed strands of transcribed regions. The three events that char...
    • Lagging Strand Synthesis, organism-specific biosystem (from REACTOME)
      Lagging Strand Synthesis, organism-specific biosystemDue to the antiparallel nature of DNA, DNA polymerization is unidirectional, and one strand is synthesized discontinuously. This strand is called the lagging strand. Although the polymerase switching...
    • Leading Strand Synthesis, organism-specific biosystem (from REACTOME)
      Leading Strand Synthesis, organism-specific biosystemThe processive complex is responsible for synthesizing at least 5-10 kb of DNA in a continuous manner during leading strand synthesis. The incorporation of nucleotides by pol delta is quite accurate....
    • Mismatch repair, organism-specific biosystem (from KEGG)
      Mismatch repair, organism-specific biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
    • Mismatch repair, conserved biosystem (from KEGG)
      Mismatch repair, conserved biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
    • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
      Nucleotide Excision Repair, organism-specific biosystemNER was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recovery of DNA synthesis and cell ...
    • Nucleotide excision repair, organism-specific biosystem (from KEGG)
      Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Nucleotide excision repair, conserved biosystem (from KEGG)
      Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Polymerase switching, organism-specific biosystem (from REACTOME)
      Polymerase switching, organism-specific biosystemAfter the primers are synthesized, Replication Factor C binds to the 3'-end of the initiator DNA to trigger polymerase switching. The non-processive nature of pol alpha catalytic activity and the tig...
    • Polymerase switching on the C-strand of the telomere, organism-specific biosystem (from REACTOME)
      Polymerase switching on the C-strand of the telomere, organism-specific biosystemAfter the primers are synthesized on the G-Rich strand, Replication Factor C binds to the 3'-end of the initiator DNA to trigger polymerase switching. The non-processive nature of pol alpha catalytic...
    • RF-C complex, organism-specific biosystem (from KEGG)
      RF-C complex, organism-specific biosystemStructural complex; Genetic information processing; Replication system
    • Repair synthesis for gap-filling by DNA polymerase in TC-NER, organism-specific biosystem (from REACTOME)
      Repair synthesis for gap-filling by DNA polymerase in TC-NER, organism-specific biosystem
      Repair synthesis for gap-filling by DNA polymerase in TC-NER
    • Repair synthesis of patch ~27-30 bases long by DNA polymerase, organism-specific biosystem (from REACTOME)
      Repair synthesis of patch ~27-30 bases long by DNA polymerase, organism-specific biosystemRepair synthesis is carried out by the DNA dependent DNA polymerases, delta and epsilon.
    • S Phase, organism-specific biosystem (from REACTOME)
      S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continues,...
    • Synthesis of DNA, organism-specific biosystem (from REACTOME)
      Synthesis of DNA, organism-specific biosystemThe actual synthesis of DNA occurs in the S phase of the cell cycle. This includes the initiation of DNA replication, when the first nucleotide of the new strand is laid down during the synthesis of ...
    • Telomere C-strand (Lagging Strand) Synthesis, organism-specific biosystem (from REACTOME)
      Telomere C-strand (Lagging Strand) Synthesis, organism-specific biosystemDue to the antiparallel nature of DNA, DNA polymerization is unidirectional, and one strand is synthesized discontinuously. This strand is called the lagging strand. Although the polymerase switching...
    • Telomere Maintenance, organism-specific biosystem (from REACTOME)
      Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...
    • Transcription-coupled NER (TC-NER), organism-specific biosystem (from REACTOME)
      Transcription-coupled NER (TC-NER), organism-specific biosystemThe preferential repair of UV-induced damage in transcribed strands of active genes is known as Transcription-coupled NER (TC-NER). Impairment of the ability for TC-NER results in the onset of a sev...

    Markers

    Homology

    Clone Names

    • MGC3665

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoside-triphosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
     
    DNA replication TAS
    Traceable Author Statement
    more info
     
    DNA strand elongation involved in DNA replication TAS
    Traceable Author Statement
    more info
     
    S phase of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    cell cycle checkpoint TAS
    Traceable Author Statement
    more info
     
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA gap filling TAS
    Traceable Author Statement
    more info
     
    telomere maintenance TAS
    Traceable Author Statement
    more info
     
    telomere maintenance via recombination TAS
    Traceable Author Statement
    more info
     
    telomere maintenance via semi-conservative replication TAS
    Traceable Author Statement
    more info
     
    transcription-coupled nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    DNA replication factor C complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    replication factor C subunit 2
    Names
    replication factor C subunit 2
    A1 40 kDa subunit
    RF-C 40 kDa subunit
    activator 1 subunit 2
    replication factor C 2
    activator 1 40 kDa subunit

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008102.1 RefSeqGene

      Range
      5001..27907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002914.3NP_002905.2  replication factor C subunit 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding segment, as compared to variant 1. The resulting shorter isoform (2) lacks an internal region, as compared to isoform 1.
      Source sequence(s)
      AL560344, BC002813, BQ070526
      Consensus CDS
      CCDS5567.1
      UniProtKB/Swiss-Prot
      P35250
      UniProtKB/TrEMBL
      Q75MT5
      Related
      ENSP00000275627, OTTHUMP00000160645, ENST00000352131, OTTHUMT00000252458
      Conserved Domains (3) summary
      cd00009
      Location:51151
      Blast Score: 133
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      PLN03025
      Location:36314
      Blast Score: 1296
      PLN03025; replication factor C subunit; Provisional
      pfam08542
      Location:222310
      Blast Score: 261
      Rep_fac_C; Replication factor C C-terminal domain
    2. NM_181471.1NP_852136.1  replication factor C subunit 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL560344, BQ070526, M87338
      Consensus CDS
      CCDS5568.1
      UniProtKB/Swiss-Prot
      P35250
      Related
      ENSP00000055077, OTTHUMP00000160646, ENST00000055077, OTTHUMT00000252459
      Conserved Domains (3) summary
      cd00009
      Location:51185
      Blast Score: 223
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      PLN03025
      Location:36348
      Blast Score: 1539
      PLN03025; replication factor C subunit; Provisional
      pfam08542
      Location:256344
      Blast Score: 259
      Rep_fac_C; Replication factor C C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 PATCHES

    Genomic

    1. NW_003871064.1 Reference GRCh37.p10 PATCHES

      Range
      1760738..1783644, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p10 Primary Assembly

      Range
      73645832..73668738, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      69527267..69550295, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      72978904..73001810, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018918.1 Alternate CHM1_1.0

      Range
      77170279..77193182, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

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