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Protein

Replication factor C subunit 2

Gene

RFC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi76 – 83ATPSequence analysis8

GO - Molecular functioni

  • ATP binding Source: ProtInc
  • DNA binding Source: InterPro
  • enzyme binding Source: Ensembl

GO - Biological processi

Keywordsi

Biological processDNA replication
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-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 2
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000049541.10
HGNCiHGNC:9970 RFC2
MIMi600404 gene
neXtProtiNX_P35250

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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 (PubMed:11003705).1 Publication

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi5982
MalaCardsiRFC2
MIMi194050 phenotype
OpenTargetsiENSG00000049541
Orphaneti904 Williams syndrome
PharmGKBiPA34339

Polymorphism and mutation databases

DMDMi2507300

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001217661 – 354Replication factor C subunit 2Add BLAST354

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei18PhosphoserineCombined sources1
Modified residuei30PhosphoserineCombined sources1
Modified residuei163N6-acetyllysineCombined sources1
Modified residuei304N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP35250
MaxQBiP35250
PaxDbiP35250
PeptideAtlasiP35250
PRIDEiP35250
ProteomicsDBi55014
55015 [P35250-2]

PTM databases

iPTMnetiP35250
PhosphoSitePlusiP35250

Expressioni

Gene expression databases

BgeeiENSG00000049541
CleanExiHS_RFC2
ExpressionAtlasiP35250 baseline and differential
GenevisibleiP35250 HS

Organism-specific databases

HPAiHPA029493

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 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111914, 69 interactors
ComplexPortaliCPX-415 DNA replication factor C complex
CORUMiP35250
DIPiDIP-34367N
IntActiP35250, 36 interactors
MINTiP35250
STRINGi9606.ENSP00000055077

Structurei

3D structure databases

ProteinModelPortaliP35250
SMRiP35250
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the activator 1 small subunits family.Curated

Phylogenomic databases

eggNOGiKOG0991 Eukaryota
COG0470 LUCA
GeneTreeiENSGT00550000075050
HOGENOMiHOG000224155
HOVERGENiHBG002053
InParanoidiP35250
KOiK10755
OMAiQSTWSGF
OrthoDBiEOG091G0CKT
PhylomeDBiP35250
TreeFamiTF300585

Family and domain databases

InterProiView 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
PfamiView protein in Pfam
PF00004 AAA, 1 hit
PF08542 Rep_fac_C, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF48019 SSF48019, 1 hit
SSF52540 SSF52540, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P35250-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:354
Mass (Da):39,157
Last modified:November 1, 1997 - v3
Checksum:iB50AC8EEF89F64A9
GO
Isoform 2 (identifier: P35250-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     111-144: Missing.

Note: No experimental confirmation available.
Show »
Length:320
Mass (Da):35,244
Checksum:iD6E72DD28EA014E8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti244G → L AA sequence (PubMed:1313560).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023126232A → V1 PublicationCorresponds to variant dbSNP:rs3135684Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005660111 – 144Missing in isoform 2. 1 PublicationAdd BLAST34

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
CCDSiCCDS5567.1 [P35250-2]
CCDS5568.1 [P35250-1]
PIRiA42700
RefSeqiNP_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]
UniGeneiHs.647062

Genome annotation databases

EnsembliENST00000055077; ENSP00000055077; ENSG00000049541 [P35250-1]
ENST00000352131; ENSP00000275627; ENSG00000049541 [P35250-2]
GeneIDi5982
KEGGihsa:5982
UCSCiuc003uaj.5 human [P35250-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRFC2_HUMAN
AccessioniPrimary (citable) accession number: P35250
Secondary accession number(s): B5BU07
, D3DXG3, P32846, Q9BU93
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: November 1, 1997
Last modified: June 20, 2018
This is version 189 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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