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

Gene ID: 5982, updated on 26-Aug-2014
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
RFC40
Summary
This gene encodes a member of the activator 1 small subunits family. 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). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]
See RFC2 in Epigenomics, MapViewer
Location:
7q11.23
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (74231502..74254458, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73645832..73668788, complement)

Chromosome 7 - NC_000007.14Genomic 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 Neighboring gene RNA, 5S ribosomal pseudogene 233

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Tat 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

  • 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
  • BRCA1-associated genome surveillance complex (BASC), conserved biosystem (from KEGG)
    BRCA1-associated genome surveillance complex (BASC), conserved 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
  • RF-C complex, conserved biosystem (from KEGG)
    RF-C complex, conserved 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...
Products Interactant Other Gene Complex Source Pubs Description

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
 
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

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 

    Range
    4951..27907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278791.1NP_001265720.1  replication factor C subunit 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AW450467, BC002813, BM563468, HY046046, HY056452
    UniProtKB/Swiss-Prot
    P35250
    Conserved Domains (2) summary
    cd00009
    Location:184
    Blast Score: 130
    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, ...
    pfam08542
    Location:155243
    Blast Score: 260
    Rep_fac_C; Replication factor C C-terminal domain
  2. NM_001278792.1NP_001265721.1  replication factor C subunit 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the central coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AW450467, BC002813, BM810551, HY046046, HY056452
    Consensus CDS
    CCDS75618.1
    UniProtKB/Swiss-Prot
    P35250
    Related
    ENSP00000479768, ENST00000621097
    Conserved Domains (2) summary
    cd00009
    Location:482
    Blast Score: 118
    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, ...
    pfam08542
    Location:153241
    Blast Score: 261
    Rep_fac_C; Replication factor C C-terminal domain
  3. NM_001278793.1NP_001265722.1  replication factor C subunit 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in its 5' UTR, lacks an in-frame exon in its 5' coding region, and begins translation at a downstream start codon, compared to variant 1. The encoded isoform (5) is shorter, compared to isoform 1.
    Source sequence(s)
    AW450467, BC002813, BQ674131, HY046046, HY056452
    UniProtKB/Swiss-Prot
    P35250
    Conserved Domains (2) summary
    PLN03025
    Location:9213
    Blast Score: 989
    PLN03025; replication factor C subunit; Provisional
    pfam08542
    Location:121209
    Blast Score: 263
    Rep_fac_C; Replication factor C C-terminal domain
  4. NM_002914.4NP_002905.2  replication factor C subunit 2 isoform 2

    See proteins identical to NP_002905.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AW450467, BC002813, HY046046, HY056452
    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: 135
    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: 1307
    PLN03025; replication factor C subunit; Provisional
    pfam08542
    Location:222310
    Blast Score: 271
    Rep_fac_C; Replication factor C C-terminal domain
  5. NM_181471.2NP_852136.1  replication factor C subunit 2 isoform 1

    See proteins identical to NP_852136.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB451243, AW450467, BC002813, HY046046, HY056452
    Consensus CDS
    CCDS5568.1
    UniProtKB/Swiss-Prot
    P35250
    Related
    ENSP00000055077, OTTHUMP00000160646, ENST00000055077, OTTHUMT00000252459
    Conserved Domains (3) summary
    cd00009
    Location:51185
    Blast Score: 225
    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: 1553
    PLN03025; replication factor C subunit; Provisional
    pfam08542
    Location:256344
    Blast Score: 268
    Rep_fac_C; Replication factor C C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    74231502..74254458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716080.1XP_006716143.1  

    Conserved Domains (2) summary
    PLN03025
    Location:9211
    Blast Score: 977
    PLN03025; replication factor C subunit; Provisional
    pfam08542
    Location:119207
    Blast Score: 264
    Rep_fac_C; Replication factor C C-terminal domain

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    69527267..69550345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    73790894..73813879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)