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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RFC1 Gene

protein-coding GIFtS: 64
GCID: GC04M039291

replication factor C (activator 1) 1, 145kDa

(Previous name: replication factor C (activator 1) 1 (145kD) )

Explore 51 diseases affiliated with
RFC1 via

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Replication Factor C (Activator 1) 1, 145kDa¹ ²		A1 140 KDa Subunit² ³
RFC140¹ ² ³		DNA-Binding Protein PO-GA² ³
A1¹ ²		RF-C 140 KDa Subunit² ³
MHCBFB¹ ²		RECC1² ⁵
PO-GA¹ ²		Replication Factor C (Activator 1) 1 (145kD)¹
Activator 1 140 KDa Subunit² ³		RFC²
Activator 1 Large Subunit² ³		MHC Binding Factor, Beta²
Activator 1 Subunit 1² ³		Replication Factor C Subunit 1²
Replication Factor C 140 KDa Subunit² ³		Replication Factor C1²
Replication Factor C Large Subunit² ³

External Ids:	HGNC: 9969¹	Entrez Gene: 5981²	Ensembl: ENSG00000035928⁷	OMIM: 102579⁵	UniProtKB: P35251³

Export aliases for RFC1 gene to outside databases

Previous GC identifers: GC04M039463 GC04M039123 GC04M039186 GC04M039111 GC04M038965 GC04M038615

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RFC1:

This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is

a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of

DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have

a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted

for this gene. (provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: RFC1_HUMAN, P35251

Function: The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the

accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B

transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation as

well as DNA replication and/or repair. Can bind single- or double-stranded DNA

Function: Interacts with C-terminus of PCNA. 5' phosphate residue is required for binding of the N-terminal DNA-binding

domain to duplex DNA, suggesting a role in recognition of non-primer template DNA structures during replication and/or

repair

Gene Wiki entry for RFC1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NC_018915.1 NT_016297.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RFC1 gene promoter:
POU2F1 Sp1 POU2F1a FOXO4 aMEF-2 C/EBPalpha GATA-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RFC1 promoter sequence

Search SABiosciences Chromatin IP Primers for RFC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RFC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p14-p13 Ensembl cytogenetic band: 4p14 HGNC cytogenetic band: 4p14-p13

RFC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RFC1 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M039291: view genomic region (about GC identifiers)

Start:	39,289,076 bp from pter	End:	39,367,995 bp from pter
Size:	78,920 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RFC1_HUMAN, P35251 (See protein sequence)

Recommended Name: Replication factor C subunit 1

Size: 1148 amino acids; 128255 Da

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

Subcellular location: Nucleus

3 PDB 3D structures from and Proteopedia for RFC1:

2EBU (3D)

2K6G (3D)

2K7F (3D)

Secondary accessions: A8K6E7 Q5XKF5 Q6PKU0 Q86V41 Q86V46

Alternative splicing: 2 isoforms: P35251-1 P35251-2 (Alternative use of an acceptor site)

Explore the universe of human proteins at neXtProt for RFC1: NX_P35251

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P35251

RFC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001191676.1 NP_002904.3

ENSEMBL proteins:

ENSP00000371321 ENSP00000261424 ENSP00000424713 ENSP00000422129 ENSP00000422475

ENSP00000422740

Reactome Protein details: P35251
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for RFC1
	GenScript Custom Purified and Recombinant Proteins Services for RFC1
	Novus Biologicals RFC1 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for RFC1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	--	--
GO:0005654	nucleoplasm	TAS	--
GO:0005663	DNA replication factor C complex	IDA	9488738

RFC1 for ontologies About GeneDecksing

RFC1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of RFC1
	R&D Systems Antibodies for RFC1
	Browse OriGene Antibodies OriGene Custom Antibody Services for RFC1
	GenScript Custom Superior Antibodies Services for RFC1
	Novus Biologicals RFC1 Antibodies
	Search for Antibodies for RFC1 at Abcam
	Uscn Antibodies for RFC1
	ThermoFisher Antibodies for RFC1

Assay Products for RFC1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for RFC1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for RFC1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RFC1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR013725 DNA_replication_fac_RFC1_C

IPR003959 ATPase_AAA_core

IPR008921 DNA_pol3_clamp-load_cplx_C

IPR012178 DNA_replication_fac_C_lsu

IPR003593 AAA+_ATPase

Graphical View of Domain Structure for InterPro Entry P35251

ProtoNet protein and cluster: P35251

2 Blocks protein families:

IPB001357 BRCT domain

IPB013725 DNA replication factor C-terminal

UniProtKB/Swiss-Prot: RFC1_HUMAN, P35251

Similarity: Belongs to the activator 1 large subunit family

Similarity: Contains 1 BRCT domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: RFC1_HUMAN, P35251

Function: The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the

accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B

transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation as

well as DNA replication and/or repair. Can bind single- or double-stranded DNA

Function: Interacts with C-terminus of PCNA. 5' phosphate residue is required for binding of the N-terminal DNA-binding

domain to duplex DNA, suggesting a role in recognition of non-primer template DNA structures during replication and/or

repair

Genatlas biochemistry entry for RFC1:

replication factor C1,component of complex A-1,DNA polymerase accessory protein "clamp loader",ATP dependent,required

to assemble PCNA and polymerase delta on the DNA template

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFC1
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate RFC1 (see all 20):
		hsa-miR-579 hsa-miR-3130-5p hsa-miR-3149 hsa-miR-345 hsa-miR-520d-5p hsa-miR-875-5p hsa-miR-3921 hsa-miR-197

		SwitchGear 3'UTR luciferase reporter plasmid: RFC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RFC1 (see all 7) OriGene shRNA RFP: RFC1 OriGene siRNA: RFC1
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for RFC1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 2): RFC1 (NM_002913)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RFC1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFC1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RFC1
		Search LifeMap BioReagents cell lines for RFC1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFC1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003689	DNA clamp loader activity	IEA	--
GO:0005515	protein binding	IPI	15655353
GO:0005524	ATP binding	IEA	--
GO:0008047	enzyme activator activity	TAS	8954124

RFC1 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lagging Strand Synthesis

8/15 pathways (see all 15)
Lagging Strand Synthesis	1.00	Gap-filling DNA repair synthesis and ligation in GG-NER	0.64
Telomere C-strand (Lagging Strand) Synthesis	0.91	Repair synthesis of patch ~27-30 bases long by DNA polymerase	0.59
Extension of Telomeres	0.83	Repair synthesis for gap-filling by DNA polymerase in TC-NER	0.59
Polymerase switching on the C-strand of the telomere	0.70	DNA replication	0.56

Global Genomic NER (GG-NER)

	Global Genomic NER (GG-NER)	1.00			Nucleotide Excision Repair Pathway	0.49
	Nucleotide excision repair	0.70

Nucleotide Excision Repair

	Nucleotide Excision Repair	1.00			DNA Repair	0.46
	Transcription-coupled NER (TC-NER)	0.90

Ubiquitinated Orc1 is degraded by the proteasome

	Synthesis of DNA	0.51			S Phase	0.40
	DNA Replication	0.49

Cell Cycle

Cell Cycle

1.00

Cell Cycle, Mitotic

0.84

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for RFC1

Cell cycle Transition and termination of DNA replacation

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RFC1

	Mismatch Repair in Eukaryotes
	Nucleotide Excision Repair Pathway

1 GeneGo (Thomson Reuters) Pathway for RFC1

Cell cycle Transition and termination of DNA replication

4 BioSystems Pathways for RFC1

	DNA damage response
	Mismatch repair
	DNA Replication
	FAS (CD95) signaling pathway

5/22 Reactome Pathways for RFC1 (see all 22)

	Extension of Telomeres
	Telomere Maintenance
	DNA Repair
	Leading Strand Synthesis
	Repair synthesis for gap-filling by DNA polymerase in TC-NER

3 Kegg Pathways (Kegg details for RFC1):

	DNA replication
	Nucleotide excision repair
	Mismatch repair

RFC1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RFC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/109 Interacting proteins for RFC1 (P35251^{1, 2, 3} ENSP00000261424⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 109)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=3
HIST1H4B	P62805³	I2D: score=3
HIST1H4C	P62805³	I2D: score=3
HIST1H4D	P62805³	I2D: score=3
HIST1H4E	P62805³	I2D: score=3

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000084	S phase of mitotic cell cycle	TAS	--
GO:0000278	mitotic cell cycle	TAS	--
GO:0000722	telomere maintenance via recombination	TAS	--
GO:0000723	telomere maintenance	TAS	--
GO:0006261	DNA-dependent DNA replication	TAS	8248204

RFC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

RFC1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RFC1
6 Novoseek chemical compound relationships for RFC1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phosphocellulose	49.3	2	1671044 (1), 9525597 (1)
atp	47.3	34	16980295 (6), 11121020 (4), 9582326 (3), 9632802 (3) (see all 12)
atpgammas	36.7	4	9632802 (2), 11121020 (1)
alanine	3.67	2	8521831 (1), 9734782 (1)
adp	0	2	11121020 (1)
arginine	0	2	16980295 (1)

Search CenterWatch for drugs/clinical trials and news about RFC1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RFC1 gene (2 alternative transcripts):

NM_001204747.1 NM_002913.4

Unigene Cluster for RFC1:

Replication factor C (activator 1) 1, 145kDa

Hs.507475 [show with all ESTs]

Unigene Representative Sequence: BC051786

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000381897(uc003gtx.2 uc003gty.2) ENST00000349703 ENST00000510783

ENST00000502991 ENST00000504974 ENST00000514572 ENST00000505077 ENST00000504554

ENST00000502706 ENST00000509084 ENST00000512881 ENST00000512726 ENST00000418436(uc003gtz.2)

ENST00000504849 ENST00000512275 ENST00000503784

miRNA Products:		OriGene 3'-UTR Clone: RFC1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFC1
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate RFC1 (see all 20):
		hsa-miR-579 hsa-miR-3130-5p hsa-miR-3149 hsa-miR-345 hsa-miR-520d-5p hsa-miR-875-5p hsa-miR-3921 hsa-miR-197

		SwitchGear 3'UTR luciferase reporter plasmid: RFC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RFC1 (see all 7) OriGene shRNA RFP: RFC1 OriGene siRNA: RFC1
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RFC1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RFC1 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Additional cDNA sequence:

AF040250.1 AJ564999.1 AK291612.1 BC010387.1 BC035297.1 BC051751.1 BC051786.2 BX648140.1

L24783.1 X69821.1

12 DOTS entries:

DT.75147194 DT.97861160 DT.100026644 DT.121231178 DT.100793839 DT.101963764 DT.40119865 DT.100793845

DT.121231164 DT.121231168 DT.91751232 DT.95375863

24/276 AceView cDNA sequences (see all 276):

BC035297 BM559251 BM786861 BX443721 AU128880 BF340102 BX497395 BC051751

CA313507 F06520 CF138163 BE504689 BQ925661 BQ229405 BM990032 BU845877

AW237214 AI089640 BQ717210 AI205521 AI632440 W91907 BQ773655 BM840962

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for RFC1 (see all 13) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	·	8c	^	9	^	10	^	11a	·	11b	^	12a	·	12b	^	13a	·	13b	^	14a	·	14b	^	15a	·	15b	·	15c	^	16	^
SP1:																							-		-
SP2:							-
SP3:							-										-
SP4:
SP5:																																																			-

ExUns:	17a	·	17b	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^	27a	·	27b	^	28a	·	28b
SP1:
SP2:
SP3:
SP4:																			-
SP5:

ECgene alternative splicing isoforms for RFC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RFC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGTGGTCTG

About this image
See RFC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RFC1

SOURCE GeneReport for Unigene cluster: Hs.507475

UniProtKB/Swiss-Prot: RFC1_HUMAN, P35251

Tissue specificity: Wide tissue distribution. Undetectable in placental tissue

SABiosciences Expression via Pathway-Focused PCR Arrays including RFC1:

Telomeres & Telomerase in human mouse rat

DNA Repair in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RFC1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFC1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFC1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for RFC1 gene from 10/35 species (see all 35) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rfc1^{1 , 5}	replication factor C (activator 1) 1^{1, 5}	83.85(n)¹ 83.53(a)¹		5 (33.61 cM)⁵ 19687¹ NM_011258.2¹ NP_035388.2¹ 65261852⁵
chicken (Gallus gallus)	Aves	RFC1¹	replication factor C (activator 1) 1, 145kDa	71.89(n) 69.92(a)		422788 NM_001006456.1 NP_001006456.1
lizard (Anolis carolinensis)	Reptilia	RFC1⁶	--	64(a)	1 ↔ 1	5(73057458-73093966)
African clawed frog (Xenopus laevis)	Amphibia	BJ626750.1²	--	75.91(n)		BJ626750.1
zebrafish (Danio rerio)	Actinopterygii	BI891313.1²	--	76.56(n)		BI891313.1
fruit fly (Drosophila melanogaster)	Insecta	Gnf1^{1 , 3}	DNA replication DNA binding³ Germ line transcription factor 1¹	42(a)³ 48.88(n)¹ 44.37(a)¹		82E2³ 40607¹ NM_001014605.2¹ NP_001014605.1¹
worm (Caenorhabditis elegans)	Secernentea	rfc-1^{1 , 3}	replication factor C 140 KD subunit like³ Protein RFC-1¹	42(a)³ 48.22(n)¹ 38.77(a)¹		V(14645402-14648343)³ 179967¹ NM_074218.4¹ NP_506619.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	RFC1(YOR217W)⁴ RFC1¹	Subunit of heteropentameric Replication factor C (RF-C), more⁴ Rfc1p¹	46.28(n)¹ 35.01(a)¹		15(749301-751886)⁴ 854392^{1, 4} NP_014860.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	RFC1¹	replication factor C1	45.02(n) 36.36(a)		832261 NM_147883.5 NP_680188.1
rice (Oryza sativa)	Liliopsida	Os11g0572100¹	hypothetical protein	46.84(n) 38.68(a)		4350754 NM_001074655.1 NP_001068123.1

ENSEMBL Gene Tree for RFC1 (if available)
TreeFam Gene Tree for RFC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for RFC1 gene

ATAD5²

1 SIMAP similar gene for RFC1 using alignment to 5 protein entries: RFC1_HUMAN (see all proteins):

LLDBP

RFC1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RFC1

DNA2.0 Custom Variant and Variant Library Synthesis for RFC1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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RFC1 for disorders           About GeneDecksing

OMIM gene information: 102579    OMIM disorders: --

20/51 diseases for RFC1 (see all 51):    About MalaCards

homocysteine plasma level cleft lip/palate neural tube defect west nile virus

graft versus host disease placental abruption cleft lip non-hodgkin lymphoma

spina bifida congenital heart defect intracranial aneurysm pediatric osteosarcoma

cleft palate hodgkin's lymphoma inflammatory bowel disease acute lymphoblastic leukemia

psoriatic arthritis sporadic breast cancer lymphoblastic leukemia leukemia/lymphoma

3 Novoseek disease relationships for RFC1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinoblastoma	26	4	15897598 (1), 12509469 (1), 12045192 (1)
leukemia	0	1	9279361 (1)
tumors	0	5	12509469 (2), 12045192 (1), 8144677 (1)

Genetic Association Database (GAD): RFC1
Human Genome Epidemiology (HuGE) Navigator: RFC1 (162 documents)

Export disorders for RFC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RFC1 gene, integrated from 9 sources (see all 273):
(articles sorted by number of sources associating them with RFC1)

Utopia: connect your pdf to the dynamic
world of online information

Replication factor C interacts with the C-terminal side of proliferating cell nuclear antigen. (PubMed id 8999859)^{1, 2, 9} Mossi R.... Huebscher U. (1997)
cDNAs encoding the large subunit of human replication factor C. (PubMed id 8248204)^{1, 2, 9} Bunz F.... Stillman B. (1993)
Reduced folate carrier polymorphisms and neural tube defect risk. (PubMed id 16343969)^{1, 4} O'leary V.B....Scott J.M. (2006)
Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China. (PubMed id 16019224)^{1, 4} Pei L....Li Z. (2006)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{1, 2} Beausoleil S.A.... Gygi S.P. (2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
The pharmacogenetics of methotrexate in inflammatory bowel disease. (PubMed id 16141796)^{1, 4} Herrlinger K.R....Jewell D.P. (2005)
Polymorphisms in the reduced folate carrier, thymidylate synthase, or methionine synthase and risk of colon cancer. (PubMed id 16284371)^{1, 4} Ulrich C.M....Slattery M.L. (2005)
No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers. (PubMed id 16115349)^{1, 4} Chango A....Nicolas J.P. (2005)
Interaction between maternal periconceptional supplementation of folic acid and reduced folate carrier gene polymorphism of neural tube defects. (PubMed id 15952116)^{1, 4} Pei L.J....Li Z. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5981	HGNC: 9969	AceView: RFC1	Ensembl:ENSG00000035928	euGenes: HUgn5981
ECgene: RFC1	Kegg: 5981	H-InvDB: RFC1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for RFC1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for RFC1	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/rfc1/

Intellectual Property for RFC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RFC1 gene:
Search GeneIP for patents involving RFC1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RFC1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RFC1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RFC1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFC1
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	Regulatory tfbs in RFC1 promoter
	Search Chromatin IP Primers for RFC1
	RT² qPCR Primer Assay in human, mouse, rat RFC1
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFC1

	SwitchGear 3'UTR luciferase reporter plasmids for RFC1
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ThermoFisher Antibodies for RFC1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFC1

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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RFC1 Gene

replication factor C (activator 1) 1, 145kDa

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RFC1 (Gene Symbol)
Replication Factor C (Activator 1) 1, 145kDa
RFC140
A1
MHCBFB
PO-GA
Activator 1 140 KDa Subunit
Activator 1 Large Subunit
Activator 1 Subunit 1
Replication Factor C 140 KDa Subunit
Replication Factor C Large Subunit
A1 140 KDa Subunit
DNA-Binding Protein PO-GA
RF-C 140 KDa Subunit
RECC1
Replication Factor C (Activator 1) 1 (145kD)
RFC
MHC Binding Factor, Beta
Replication Factor C Subunit 1
Replication Factor C1

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RFC1 Gene

replication factor C (activator 1) 1, 145kDa

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