UniProtKB - P35250 (RFC2_HUMAN)
Replication factor C subunit 2
RFC2
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 76 – 83 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATPase activity Source: InterPro
- ATP binding Source: ProtInc
- DNA binding Source: InterPro
- enzyme binding Source: Ensembl
GO - Biological processi
- DNA damage response, detection of DNA damage Source: Reactome
- DNA-dependent DNA replication Source: GO_Central
- DNA duplex unwinding Source: GOC
- DNA repair Source: GO_Central
- DNA replication Source: Reactome
- error-free translesion synthesis Source: Reactome
- error-prone translesion synthesis Source: Reactome
- nucleotide-excision repair, DNA gap filling Source: Reactome
- nucleotide-excision repair, DNA incision Source: Reactome
- nucleotide-excision repair, DNA incision, 5'-to lesion Source: Reactome
- positive regulation of DNA-directed DNA polymerase activity Source: UniProtKB
- regulation of signal transduction by p53 class mediator Source: Reactome
- telomere maintenance via semi-conservative replication Source: Reactome
- transcription-coupled nucleotide-excision repair Source: Reactome
- translesion synthesis Source: Reactome
Keywordsi
Biological process | DNA replication |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | P35250 |
Reactomei | R-HSA-110312, Translesion synthesis by REV1 R-HSA-110314, Recognition of DNA damage by PCNA-containing replication complex R-HSA-110320, Translesion Synthesis by POLH R-HSA-174411, Polymerase switching on the C-strand of the telomere R-HSA-176187, Activation of ATR in response to replication stress R-HSA-5651801, PCNA-Dependent Long Patch Base Excision Repair R-HSA-5655862, Translesion synthesis by POLK R-HSA-5656121, Translesion synthesis by POLI R-HSA-5656169, Termination of translesion DNA synthesis R-HSA-5685938, HDR through Single Strand Annealing (SSA) R-HSA-5685942, HDR through Homologous Recombination (HRR) R-HSA-5693607, Processing of DNA double-strand break ends R-HSA-5693616, Presynaptic phase of homologous DNA pairing and strand exchange R-HSA-5696397, Gap-filling DNA repair synthesis and ligation in GG-NER R-HSA-5696400, Dual Incision in GG-NER R-HSA-6782135, Dual incision in TC-NER R-HSA-6782210, Gap-filling DNA repair synthesis and ligation in TC-NER R-HSA-6804756, Regulation of TP53 Activity through Phosphorylation R-HSA-69091, Polymerase switching R-HSA-69473, G2/M DNA damage checkpoint |
Names & Taxonomyi
Protein namesi | Recommended name: Replication factor C subunit 2Alternative name(s): Activator 1 40 kDa subunit Short name: A1 40 kDa subunit Activator 1 subunit 2 Replication factor C 40 kDa subunit Short name: RF-C 40 kDa subunit Short name: RFC40 |
Gene namesi | Name:RFC2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000049541.10 |
HGNCi | HGNC:9970, RFC2 |
MIMi | 600404, gene |
neXtProti | NX_P35250 |
Subcellular locationi
Nucleus
- Nucleus Curated
Nucleus
- nucleoplasm Source: Reactome
- nucleus Source: GO_Central
Other locations
- Ctf18 RFC-like complex Source: UniProtKB
- DNA replication factor C complex Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Keywords - Diseasei
Williams-Beuren syndromeOrganism-specific databases
DisGeNETi | 5982 |
MalaCardsi | RFC2 |
MIMi | 194050, phenotype |
OpenTargetsi | ENSG00000049541 |
Orphaneti | 904, Williams syndrome |
PharmGKBi | PA34339 |
Miscellaneous databases
Pharosi | P35250, Tbio |
Polymorphism and mutation databases
BioMutai | RFC2 |
DMDMi | 2507300 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000121766 | 1 – 354 | Replication factor C subunit 2Add BLAST | 354 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 18 | PhosphoserineCombined sources | 1 | |
Modified residuei | 30 | PhosphoserineCombined sources | 1 | |
Modified residuei | 163 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 304 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | P35250 |
jPOSTi | P35250 |
MassIVEi | P35250 |
MaxQBi | P35250 |
PaxDbi | P35250 |
PeptideAtlasi | P35250 |
PRIDEi | P35250 |
ProteomicsDBi | 55014 [P35250-1] 55015 [P35250-2] |
PTM databases
iPTMneti | P35250 |
MetOSitei | P35250 |
PhosphoSitePlusi | P35250 |
Expressioni
Gene expression databases
Bgeei | ENSG00000049541, Expressed in placenta and 200 other tissues |
ExpressionAtlasi | P35250, baseline and differential |
Genevisiblei | P35250, HS |
Organism-specific databases
HPAi | ENSG00000049541, Low tissue specificity |
Interactioni
Subunit structurei
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 (PubMed:15655353).
Interacts with DDX11 (PubMed:18499658).
2 PublicationsBinary interactionsi
Hide detailsP35250
With | #Exp. | IntAct |
---|---|---|
PRKAR1A [P10644] | 7 | EBI-476409,EBI-476431 |
RFC1 [P35251] | 4 | EBI-476409,EBI-476616 |
RFC4 [P35249] | 8 | EBI-476409,EBI-476655 |
Isoform 2 [P35250-2]
With | #Exp. | IntAct |
---|---|---|
HGS [O14964] | 3 | EBI-12936957,EBI-740220 |
PSMA1 [P25786] | 3 | EBI-12936957,EBI-359352 |
YOD1 [Q5VVQ6] | 3 | EBI-12936957,EBI-2510804 |
ZIC1 [Q15915] | 3 | EBI-12936957,EBI-11963196 |
GO - Molecular functioni
- enzyme binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 111914, 108 interactors |
ComplexPortali | CPX-415, DNA replication factor C complex |
CORUMi | P35250 |
DIPi | DIP-34367N |
IntActi | P35250, 49 interactors |
MINTi | P35250 |
STRINGi | 9606.ENSP00000055077 |
Miscellaneous databases
RNActi | P35250, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P35250 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0991, Eukaryota |
GeneTreei | ENSGT00550000075050 |
HOGENOMi | CLU_042324_0_1_1 |
InParanoidi | P35250 |
OMAi | TEGANER |
OrthoDBi | 1071197at2759 |
PhylomeDBi | P35250 |
TreeFami | TF300585 |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR003959, ATPase_AAA_core IPR008921, DNA_pol3_clamp-load_cplx_C IPR027417, P-loop_NTPase IPR013748, Rep_factorC_C |
Pfami | View protein in Pfam PF00004, AAA, 1 hit PF08542, Rep_fac_C, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 1 hit |
SUPFAMi | SSF48019, SSF48019, 1 hit SSF52540, SSF52540, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEVEAVCGGA GEVEAQDSDP APAFSKAPGS AGHYELPWVE KYRPVKLNEI
60 70 80 90 100
VGNEDTVSRL EVFAREGNVP NIIIAGPPGT GKTTSILCLA RALLGPALKD
110 120 130 140 150
AMLELNASND RGIDVVRNKI KMFAQQKVTL PKGRHKIIIL DEADSMTDGA
160 170 180 190 200
QQALRRTMEI YSKTTRFALA CNASDKIIEP IQSRCAVLRY TKLTDAQILT
210 220 230 240 250
RLMNVIEKER VPYTDDGLEA IIFTAQGDMR QALNNLQSTF SGFGFINSEN
260 270 280 290 300
VFKVCDEPHP LLVKEMIQHC VNANIDEAYK ILAHLWHLGY SPEDIIGNIF
310 320 330 340 350
RVCKTFQMAE YLKLEFIKEI GYTHMKIAEG VNSLLQMAGL LARLCQKTMA
PVAS
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WVY3 | A0A087WVY3_HUMAN | Replication factor C subunit 2 | RFC2 | 251 | Annotation score: | ||
H7C5P4 | H7C5P4_HUMAN | Replication factor C subunit 2 | RFC2 | 198 | Annotation score: | ||
H7C5A0 | H7C5A0_HUMAN | Replication factor C subunit 2 | RFC2 | 87 | Annotation score: | ||
H7C5G4 | H7C5G4_HUMAN | Replication factor C subunit 2 | RFC2 | 101 | Annotation score: | ||
F8WC37 | F8WC37_HUMAN | Replication factor C subunit 2 | RFC2 | 77 | Annotation score: | ||
F8WDC9 | F8WDC9_HUMAN | Replication factor C subunit 2 | RFC2 | 37 | Annotation score: | ||
H7C596 | H7C596_HUMAN | Replication factor C subunit 2 | RFC2 | 120 | Annotation score: | ||
H7C5Q7 | H7C5Q7_HUMAN | Replication factor C subunit 2 | RFC2 | 75 | Annotation score: | ||
H7C5P1 | H7C5P1_HUMAN | Replication factor C subunit 2 | RFC2 | 52 | Annotation score: | ||
H7C5S7 | H7C5S7_HUMAN | Replication factor C subunit 2 | RFC2 | 28 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 244 | G → L AA sequence (PubMed:1313560).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023126 | 232 | A → V1 PublicationCorresponds to variant dbSNP:rs3135684EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_005660 | 111 – 144 | Missing in isoform 2. 1 PublicationAdd BLAST | 34 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M87338 mRNA Translation: AAB09786.1 AF045555 Genomic DNA Translation: AAC04860.1 AF483622 Genomic DNA Translation: AAL82503.1 AC005081 Genomic DNA Translation: AAP22334.1 AB451243 mRNA Translation: BAG70057.1 CH471200 Genomic DNA Translation: EAW69607.1 CH471200 Genomic DNA Translation: EAW69608.1 BC002813 mRNA Translation: AAH02813.1 |
CCDSi | CCDS5567.1 [P35250-2] CCDS5568.1 [P35250-1] |
PIRi | A42700 |
RefSeqi | NP_001265720.1, NM_001278791.1 NP_001265721.1, NM_001278792.1 NP_001265722.1, NM_001278793.1 NP_002905.2, NM_002914.4 [P35250-2] NP_852136.1, NM_181471.2 [P35250-1] |
Genome annotation databases
Ensembli | ENST00000055077; ENSP00000055077; ENSG00000049541 [P35250-1] ENST00000352131; ENSP00000275627; ENSG00000049541 [P35250-2] |
GeneIDi | 5982 |
KEGGi | hsa:5982 |
UCSCi | uc003uaj.5, human [P35250-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M87338 mRNA Translation: AAB09786.1 AF045555 Genomic DNA Translation: AAC04860.1 AF483622 Genomic DNA Translation: AAL82503.1 AC005081 Genomic DNA Translation: AAP22334.1 AB451243 mRNA Translation: BAG70057.1 CH471200 Genomic DNA Translation: EAW69607.1 CH471200 Genomic DNA Translation: EAW69608.1 BC002813 mRNA Translation: AAH02813.1 |
CCDSi | CCDS5567.1 [P35250-2] CCDS5568.1 [P35250-1] |
PIRi | A42700 |
RefSeqi | NP_001265720.1, NM_001278791.1 NP_001265721.1, NM_001278792.1 NP_001265722.1, NM_001278793.1 NP_002905.2, NM_002914.4 [P35250-2] NP_852136.1, NM_181471.2 [P35250-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6VVO | electron microscopy | 3.40 | B | 1-354 | [»] | |
SMRi | P35250 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111914, 108 interactors |
ComplexPortali | CPX-415, DNA replication factor C complex |
CORUMi | P35250 |
DIPi | DIP-34367N |
IntActi | P35250, 49 interactors |
MINTi | P35250 |
STRINGi | 9606.ENSP00000055077 |
PTM databases
iPTMneti | P35250 |
MetOSitei | P35250 |
PhosphoSitePlusi | P35250 |
Polymorphism and mutation databases
BioMutai | RFC2 |
DMDMi | 2507300 |
Proteomic databases
EPDi | P35250 |
jPOSTi | P35250 |
MassIVEi | P35250 |
MaxQBi | P35250 |
PaxDbi | P35250 |
PeptideAtlasi | P35250 |
PRIDEi | P35250 |
ProteomicsDBi | 55014 [P35250-1] 55015 [P35250-2] |
Protocols and materials databases
Antibodypediai | 14601, 466 antibodies |
DNASUi | 5982 |
Genome annotation databases
Ensembli | ENST00000055077; ENSP00000055077; ENSG00000049541 [P35250-1] ENST00000352131; ENSP00000275627; ENSG00000049541 [P35250-2] |
GeneIDi | 5982 |
KEGGi | hsa:5982 |
UCSCi | uc003uaj.5, human [P35250-1] |
Organism-specific databases
CTDi | 5982 |
DisGeNETi | 5982 |
EuPathDBi | HostDB:ENSG00000049541.10 |
GeneCardsi | RFC2 |
HGNCi | HGNC:9970, RFC2 |
HPAi | ENSG00000049541, Low tissue specificity |
MalaCardsi | RFC2 |
MIMi | 194050, phenotype 600404, gene |
neXtProti | NX_P35250 |
OpenTargetsi | ENSG00000049541 |
Orphaneti | 904, Williams syndrome |
PharmGKBi | PA34339 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0991, Eukaryota |
GeneTreei | ENSGT00550000075050 |
HOGENOMi | CLU_042324_0_1_1 |
InParanoidi | P35250 |
OMAi | TEGANER |
OrthoDBi | 1071197at2759 |
PhylomeDBi | P35250 |
TreeFami | TF300585 |
Enzyme and pathway databases
PathwayCommonsi | P35250 |
Reactomei | R-HSA-110312, Translesion synthesis by REV1 R-HSA-110314, Recognition of DNA damage by PCNA-containing replication complex R-HSA-110320, Translesion Synthesis by POLH R-HSA-174411, Polymerase switching on the C-strand of the telomere R-HSA-176187, Activation of ATR in response to replication stress R-HSA-5651801, PCNA-Dependent Long Patch Base Excision Repair R-HSA-5655862, Translesion synthesis by POLK R-HSA-5656121, Translesion synthesis by POLI R-HSA-5656169, Termination of translesion DNA synthesis R-HSA-5685938, HDR through Single Strand Annealing (SSA) R-HSA-5685942, HDR through Homologous Recombination (HRR) R-HSA-5693607, Processing of DNA double-strand break ends R-HSA-5693616, Presynaptic phase of homologous DNA pairing and strand exchange R-HSA-5696397, Gap-filling DNA repair synthesis and ligation in GG-NER R-HSA-5696400, Dual Incision in GG-NER R-HSA-6782135, Dual incision in TC-NER R-HSA-6782210, Gap-filling DNA repair synthesis and ligation in TC-NER R-HSA-6804756, Regulation of TP53 Activity through Phosphorylation R-HSA-69091, Polymerase switching R-HSA-69473, G2/M DNA damage checkpoint |
Miscellaneous databases
BioGRID-ORCSi | 5982, 670 hits in 850 CRISPR screens |
ChiTaRSi | RFC2, human |
GeneWikii | RFC2 |
GenomeRNAii | 5982 |
Pharosi | P35250, Tbio |
PROi | PR:P35250 |
RNActi | P35250, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000049541, Expressed in placenta and 200 other tissues |
ExpressionAtlasi | P35250, baseline and differential |
Genevisiblei | P35250, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR003959, ATPase_AAA_core IPR008921, DNA_pol3_clamp-load_cplx_C IPR027417, P-loop_NTPase IPR013748, Rep_factorC_C |
Pfami | View protein in Pfam PF00004, AAA, 1 hit PF08542, Rep_fac_C, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 1 hit |
SUPFAMi | SSF48019, SSF48019, 1 hit SSF52540, SSF52540, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RFC2_HUMAN | |
Accessioni | P35250Primary (citable) accession number: P35250 Secondary accession number(s): B5BU07 Q9BU93 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1994 |
Last sequence update: | November 1, 1997 | |
Last modified: | December 2, 2020 | |
This is version 208 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations