Description: Homo sapiens replication factor C (activator 1) 2, 40kDa (RFC2), transcript variant 1, mRNA. RefSeq Summary (NM_181471): 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]. Transcript (Including UTRs) Position: hg19 chr7:73,645,832-73,668,738 Size: 22,907 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr7:73,646,436-73,668,713 Size: 22,278 Coding Exon Count: 11
ID:RFC2_HUMAN DESCRIPTION: RecName: Full=Replication factor C subunit 2; AltName: Full=Activator 1 40 kDa subunit; Short=A1 40 kDa subunit; AltName: Full=Activator 1 subunit 2; AltName: Full=Replication factor C 40 kDa subunit; Short=RF-C 40 kDa subunit; Short=RFC40; 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 binds ATP (By similarity). 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. RFC2 also interacts with PRKAR1A; the complex may be involved in cell survival. INTERACTION: P10644:PRKAR1A; NbExp=7; IntAct=EBI-476409, EBI-476431; P35251:RFC1; NbExp=4; IntAct=EBI-476409, EBI-476616; P35249:RFC4; NbExp=8; IntAct=EBI-476409, EBI-476655; SUBCELLULAR LOCATION: Nucleus (Probable). DISEASE: Note=RFC2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. SIMILARITY: Belongs to the activator 1 small subunits family. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rfc2/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00004 - ATPase family associated with various cellular activities (AAA) PF01443 - Viral (Superfamily 1) RNA helicase PF08542 - Replication factor C C-terminal domain PF13177 - DNA polymerase III, delta subunit
SCOP Domains: 48019 - DNA polymerase III clamp loader subunits, C-terminal domain 52540 - P-loop containing nucleoside triphosphate hydrolases
ModBase Predicted Comparative 3D Structure on P35250
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
LF384043 - JP 2014500723-A/191546: Polycomb-Associated Non-Coding RNAs. BC002813 - Homo sapiens replication factor C (activator 1) 2, 40kDa, mRNA (cDNA clone MGC:3665 IMAGE:3637774), complete cds. M87338 - Human replication factor C, 40-kDa subunit (A1) mRNA, complete cds. BT007058 - Homo sapiens replication factor C (activator 1) 2, 40kDa mRNA, complete cds. AB451243 - Homo sapiens RFC2 mRNA for replication factor C 2 isoform 1, complete cds, clone: FLJ08043AAAN. AB451368 - Homo sapiens RFC2 mRNA for replication factor C 2 isoform 1, partial cds, clone: FLJ08043AAAF. AB464141 - Synthetic construct DNA, clone: pF1KB6470, Homo sapiens RFC2 gene for replication factor C (activator 1) 2, without stop codon, in Flexi system. MA619620 - JP 2018138019-A/191546: Polycomb-Associated Non-Coding RNAs. AY320404 - Homo sapiens nasopharyngeal carcinoma-associated antigen NPC-A-11 mRNA, complete cds. JD472712 - Sequence 453736 from Patent EP1572962. JD257073 - Sequence 238097 from Patent EP1572962. JD240965 - Sequence 221989 from Patent EP1572962. JD145165 - Sequence 126189 from Patent EP1572962. JD047670 - Sequence 28694 from Patent EP1572962. JD158857 - Sequence 139881 from Patent EP1572962. JD105620 - Sequence 86644 from Patent EP1572962. JD100850 - Sequence 81874 from Patent EP1572962. JD061084 - Sequence 42108 from Patent EP1572962. JD276001 - Sequence 257025 from Patent EP1572962. JD396313 - Sequence 377337 from Patent EP1572962. LF359832 - JP 2014500723-A/167335: Polycomb-Associated Non-Coding RNAs. LF359830 - JP 2014500723-A/167333: Polycomb-Associated Non-Coding RNAs. LF359829 - JP 2014500723-A/167332: Polycomb-Associated Non-Coding RNAs. MA595409 - JP 2018138019-A/167335: Polycomb-Associated Non-Coding RNAs. MA595407 - JP 2018138019-A/167333: Polycomb-Associated Non-Coding RNAs. MA595406 - JP 2018138019-A/167332: Polycomb-Associated Non-Coding RNAs. LF359828 - JP 2014500723-A/167331: Polycomb-Associated Non-Coding RNAs. JD065632 - Sequence 46656 from Patent EP1572962. JD211329 - Sequence 192353 from Patent EP1572962. MA595405 - JP 2018138019-A/167331: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03030 - DNA replication hsa03420 - Nucleotide excision repair hsa03430 - Mismatch repair
Reactome (by CSHL, EBI, and GO)
Protein P35250 (Reactome details) participates in the following event(s):
R-HSA-69053 RFC binding displaces Pol Alpha R-HSA-174452 RFC binding displaces Pol Alpha on the C-strand of the telomere R-HSA-5690213 DNA polymerases delta, epsilon or kappa bind the GG-NER site R-HSA-6782211 DNA polymerases delta, epsilon or kappa bind the TC-NER site R-HSA-69068 RFC dissociates after sliding clamp formation R-HSA-174447 RFC dissociates after sliding clamp formation on the C-strand of the telomere R-HSA-176101 Recruitment of Rad17-RFC complex to DNA R-HSA-5685011 ATR activation at DNA DSBs R-HSA-5686657 ERCC1:XPF cleaves flaps generated by SSA R-HSA-5693561 RAD51 binds BRCA2 at resected DNA DSBs R-HSA-69063 Loading of PCNA - Sliding Clamp Formation R-HSA-174439 Loading of PCNA - Sliding Clamp Formation on the C-strand of the telomere R-HSA-110364 PCNA:POLD,POLE:RPA:RFC and FEN1 bind APEX1 R-HSA-5651992 PCNA-containing replication complex binds damaged dsDNA R-HSA-5651809 LIG1, APEX1 and PCNA:POLD,POLE:RPA:RFC dissociate from repaired DNA R-HSA-5653840 POLD,POLE complete replication of damaged DNA after TLS R-HSA-5653766 USP10 binds monoUb:K164,ISG:K164,ISG:K168-PCNA R-HSA-5653754 UBE2L6:TRIM25 ISGylates monoUb:K164-PCNA R-HSA-5653780 USP43 binds ISG:K164,ISG:K168-PCNA R-HSA-5653770 USP10 deubiquitinates monoUb:K164,ISG:K164,ISG:K168-PCNA R-HSA-5653838 POLD,POLE binds deISGylated PCNA after TLS R-HSA-5653786 USP43 deISGylates ISG:K164,ISG:K168-PCNA R-HSA-5655466 USP1:WDR48 deubiquitinates monoUb:K164-PCNA R-HSA-5690997 Ligation of newly synthesized repair patch to incised DNA in GG-NER R-HSA-6782227 Ligation of newly synthesized repair patch to incised DNA in TC-NER R-HSA-176264 Recruitment of the Rad9-Hus1-Rad1 complex to DNA R-HSA-5684887 Activation of CHEK1 at resected DNA DSBs R-HSA-5684882 CHEK1 is recruited to resected DNA DSBs R-HSA-5685156 ATR phosphorylates RPA2 R-HSA-5693580 Association of RAD52 with the RPA complex at resected DNA DSBs R-HSA-110368 POLD,POLE-mediated DNA strand displacement synthesis R-HSA-110371 LIG1 binds APEX1 and PCNA at SSB R-HSA-110363 FEN1 bound to PCNA and APEX1 cleaves flap ssDNA R-HSA-5651805 LIG1 bound to APEX1 and PCNA ligates SSB R-HSA-5652005 RAD18:UBE2B or RBX1:CUL4:DDB1:DTL ubiquitin ligase complex binds PCNA:POLD,POLE:RPA:RFC associated with damaged dsDNA R-HSA-5655481 USP1:WDR48 binds monoUb:K164-PCNA R-HSA-5652009 RAD18:UBE2B or RBX1:CUL4:DDB1:DTL monoubiquitinates PCNA R-HSA-110307 REV1 binds AP-dsDNA R-HSA-110311 POLZ extends translesion synthesis R-HSA-5653756 TRIM25 binds monoUb:164-PCNA R-HSA-110316 POLH binds monoUb:K164-PCNA at damaged TT-CPD-DNA template R-HSA-5654986 SPRTN binds monoUb:K164-PCNA associated with POLH R-HSA-110319 Elongation by POLH R-HSA-5654989 SPRTN:VCP-mediated release of POLH from monoUb:K164-PCNA R-HSA-5655835 POLK forms a quaternary complex with REV1 and POLZ on damaged DNA template R-HSA-5656105 POLI simultaneously binds REV1 and monoUb:K164-PCNA at damaged DNA R-HSA-110317 Insertion of correct bases opposite the lesion by POLH R-HSA-5690988 3'-incision of DNA by ERCC5 (XPG) in GG-NER R-HSA-5691001 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in GG-NER R-HSA-6782224 3' incision by ERCC5 (XPG) in TC-NER R-HSA-6782208 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in TC-NER R-HSA-6799332 ATR phosphorylates TP53 R-HSA-5693564 Association of RAD51 with RAD52:DNA double-strand break ends R-HSA-5693593 D-loop extension by DNA polymerases R-HSA-5652151 REV1 recruits POLZ to (AP:Cyt)-DNA Template R-HSA-110308 REV1 inserts dCMP opposite to AP sites in DNA R-HSA-5654985 SPRTN recruits VCP to monoUb:K164-PCNA associated with POLH R-HSA-5655892 POLK incorporates dNMP opposite to damaged DNA base R-HSA-5655965 POLK and POLZ cooperate in elongation of mispaired primer termini R-HSA-5656148 POLI incorporates dNMP opposite to damaged DNA base R-HSA-5656158 POLZ elongates POLI-incorporated dNMP R-HSA-5686642 RAD52 promotes single strand annealing at resected DNA DSBs R-HSA-69091 Polymerase switching R-HSA-174411 Polymerase switching on the C-strand of the telomere R-HSA-5696400 Dual Incision in GG-NER R-HSA-6782135 Dual incision in TC-NER R-HSA-176187 Activation of ATR in response to replication stress R-HSA-5693607 Processing of DNA double-strand break ends R-HSA-5685938 HDR through Single Strand Annealing (SSA) R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange R-HSA-5651801 PCNA-Dependent Long Patch Base Excision Repair R-HSA-110314 Recognition of DNA damage by PCNA-containing replication complex R-HSA-5656169 Termination of translesion DNA synthesis R-HSA-5696397 Gap-filling DNA repair synthesis and ligation in GG-NER R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER R-HSA-69109 Leading Strand Synthesis R-HSA-69186 Lagging Strand Synthesis R-HSA-174417 Telomere C-strand (Lagging Strand) Synthesis R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER) R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER) R-HSA-69481 G2/M Checkpoints R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) R-HSA-5693579 Homologous DNA Pairing and Strand Exchange R-HSA-110373 Resolution of AP sites via the multiple-nucleotide patch replacement pathway R-HSA-73893 DNA Damage Bypass R-HSA-110313 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template R-HSA-110312 Translesion synthesis by REV1 R-HSA-110320 Translesion Synthesis by POLH R-HSA-5655862 Translesion synthesis by POLK R-HSA-5656121 Translesion synthesis by POLI R-HSA-69190 DNA strand elongation R-HSA-180786 Extension of Telomeres R-HSA-5696398 Nucleotide Excision Repair R-HSA-69473 G2/M DNA damage checkpoint R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation R-HSA-69620 Cell Cycle Checkpoints R-HSA-5693538 Homology Directed Repair R-HSA-5685942 HDR through Homologous Recombination (HRR) R-HSA-73933 Resolution of Abasic Sites (AP sites) R-HSA-73894 DNA Repair R-HSA-69239 Synthesis of DNA R-HSA-157579 Telomere Maintenance R-HSA-5633007 Regulation of TP53 Activity R-HSA-1640170 Cell Cycle R-HSA-5693532 DNA Double-Strand Break Repair R-HSA-73884 Base Excision Repair R-HSA-69242 S Phase R-HSA-69306 DNA Replication R-HSA-73886 Chromosome Maintenance R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-69278 Cell Cycle (Mitotic) R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
