RFC3 replication factor C subunit 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RFC3provided by HGNC
Official Full Name: replication factor C subunit 3provided by HGNC
Primary source: HGNC:HGNC:9971
See related: Ensembl:ENSG00000133119 MIM:600405; AllianceGenome:HGNC:9971
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: RFC38
Summary: The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 1.9), bone marrow (RPKM 1.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q13.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (33818149..33977377)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (33035631..33299073)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (34392286..34540695)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Abnormal activation of RFC3, A YAP1/TEAD downstream target, promotes gastric cancer progression.
Title: Abnormal activation of RFC3, A YAP1/TEAD downstream target, promotes gastric cancer progression.
RFC3 serves as a novel prognostic biomarker and target for head and neck squamous cell carcinoma.
Title: RFC3 serves as a novel prognostic biomarker and target for head and neck squamous cell carcinoma.
IRF2 inhibits ZIKV replication by promoting FAM111A expression to enhance the host restriction effect of RFC3.
Title: IRF2 inhibits ZIKV replication by promoting FAM111A expression to enhance the host restriction effect of RFC3.
Ectopic expression of RFC3 induced epithelialmesenchymal transition (EMT), as determined by downregulation of Ecadherin, and upregulation of Ncadherin, vimentin and Wnt signaling target genes, including cMYC, Wnt1 and betacatenin, and the ratio of phosphorylatedglycogen synthase kinase 3 (GSK3)beta (Ser9)/GSK3beta.
Title: RFC3 induces epithelial‑mesenchymal transition in lung adenocarcinoma cells through the Wnt/β‑catenin pathway and possesses prognostic value in lung adenocarcinoma.
The expression level of RFC3 was markedly upregulated in the HCC tissues and cells.
Title: shRNA-mediated silencing of the RFC3 gene suppresses hepatocellular carcinoma cell proliferation.
The expression level of RFC3 was remarkably up-regulated in ovarian cancer OVCAR-3 cells. Down-regulation of RFC3 expression arrested the cell cycle of OVCAR-3 cell in the S-phase and induced apoptosis.
Title: ShRNA-mediated silencing of the RFC3 gene suppress ovarian tumor cells proliferation.
High RFC3 expression is associated with neoplastic myelopoiesis.
Title: Replication factor C3 is a CREB target gene that regulates cell cycle progression through the modulation of chromatin loading of PCNA.
our findings suggest that RFC3 protein is an important and independent biomarker with prognostic implications for patients with ovarian carcinoma.
Title: Overexpression of RFC3 is correlated with ovarian tumor development and poor prognosis.
9-cis-RA-activated RXRalpha suppresses the growth of retinoid-sensitive breast cancer and embryonic cells through RFC3.
Title: 9-Cis-retinoic acid induces growth inhibition in retinoid-sensitive breast cancer and sea urchin embryonic cells via retinoid X receptor α and replication factor C3.
Data identified RFC3 as a candidate oncogene amplified in esophageal adenocarcinoma (EAC).
Title: Integrative genomics identified RFC3 as an amplified candidate oncogene in esophageal adenocarcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide scan of copy number variation in late-onset Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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 Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91962 (e-PCR)
- UniSTS:91904

D13S1680 (e-PCR)
- UniSTS:2852

G67285 (e-PCR)
- UniSTS:186474

G67286 (e-PCR)
- UniSTS:186475

G67287 (e-PCR)
- UniSTS:186476

SHGC-144308 (e-PCR)
- UniSTS:174234

SHGC-132153 (e-PCR)
- UniSTS:170678

RH93719 (e-PCR)
- UniSTS:86201

RH91486 (e-PCR)
- UniSTS:90052

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent activity, acting on DNA	IDA Inferred from Direct Assay more info	PubMed
contributes_to DNA binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to DNA clamp loader activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to DNA clamp loader activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA clamp loader activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to single-stranded DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA strand elongation involved in DNA replication	TAS Traceable Author Statement more info	PubMed
involved_in DNA synthesis involved in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in DNA-templated DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA-templated DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-directed DNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in response to organophosphorus	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
part_of Ctf18 RFC-like complex	IDA Inferred from Direct Assay more info	PubMed
part_of DNA replication factor C complex	IBA Inferred from Biological aspect of Ancestor more info
part_of DNA replication factor C complex	IDA Inferred from Direct Assay more info	PubMed
part_of DNA replication factor C complex	IPI Inferred from Physical Interaction more info	PubMed
part_of DNA replication factor C complex	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: replication factor C subunit 3

Names: A1 38 kDa subunit; RF-C 38 kDa subunit; RFC, 38 kD subunit; activator 1 38 kDa subunit; activator 1 subunit 3; replication factor C (activator 1) 3, 38kDa; replication factor C 38 kDa subunit

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_002915.4 → NP_002906.1 replication factor C subunit 3 isoform 1

See identical proteins and their annotated locations for NP_002906.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AA447424, BC000149

Consensus CDS

CCDS9352.1

UniProtKB/Swiss-Prot

C9JU95, O15252, P40938, Q5W0E8

UniProtKB/TrEMBL

Q5U0C2

Related

ENSP00000369411.3, ENST00000380071.8

Conserved Domains (1) summary

PRK12402
Location:3 → 339

PRK12402; replication factor C small subunit 2; Reviewed
NM_181558.3 → NP_853536.2 replication factor C subunit 3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and UTR compared to variant 1. The resulting isoform (2) has a distinct and shorter C-terminus compared to isoform 1.

Source sequence(s)

AI221523, AK128459, CX786577, DA943219

Consensus CDS

CCDS45025.1

UniProtKB/TrEMBL

B4DKE6

Related

ENSP00000401001.1, ENST00000434425.5

Conserved Domains (3) summary

cd00009
Location:21 → 179

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:250 → 292

Rep_fac_C; Replication factor C C-terminal domain

pfam13177
Location:19 → 188

DNA_pol3_delta2; DNA polymerase III, delta subunit

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

33818149..33977377

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011535175.3 → XP_011533477.1 replication factor C subunit 3 isoform X4

UniProtKB/TrEMBL

B4DKE6

Conserved Domains (3) summary

cd00009
Location:21 → 179

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:250 → 292

Rep_fac_C; Replication factor C C-terminal domain

pfam13177
Location:19 → 188

DNA_pol3_delta2; DNA polymerase III, delta subunit
XM_047430491.1 → XP_047286447.1 replication factor C subunit 3 isoform X2
XM_047430492.1 → XP_047286448.1 replication factor C subunit 3 isoform X6
XM_011535173.4 → XP_011533475.1 replication factor C subunit 3 isoform X3

UniProtKB/TrEMBL

B4DKE6

Conserved Domains (3) summary

cd00009
Location:21 → 179

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:250 → 297

Rep_fac_C; Replication factor C C-terminal domain

pfam13177
Location:19 → 188

DNA_pol3_delta2; DNA polymerase III, delta subunit
XM_017020683.3 → XP_016876172.1 replication factor C subunit 3 isoform X7

UniProtKB/TrEMBL

B4DKE6
XM_017020680.3 → XP_016876169.1 replication factor C subunit 3 isoform X2

UniProtKB/TrEMBL

B4DKE6
XM_047430489.1 → XP_047286445.1 replication factor C subunit 3 isoform X2
XM_047430490.1 → XP_047286446.1 replication factor C subunit 3 isoform X2
XM_017020682.3 → XP_016876171.1 replication factor C subunit 3 isoform X6

UniProtKB/TrEMBL

B4DKE6

Conserved Domains (3) summary

cd00009
Location:21 → 179

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:250 → 292

Rep_fac_C; Replication factor C C-terminal domain

pfam13177
Location:19 → 188

DNA_pol3_delta2; DNA polymerase III, delta subunit
XM_011535172.4 → XP_011533474.1 replication factor C subunit 3 isoform X1

UniProtKB/TrEMBL

B4DKE6

Conserved Domains (3) summary

cd00009
Location:21 → 179

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:250 → 292

Rep_fac_C; Replication factor C C-terminal domain

pfam13177
Location:19 → 188

DNA_pol3_delta2; DNA polymerase III, delta subunit
XM_017020681.3 → XP_016876170.1 replication factor C subunit 3 isoform X5

UniProtKB/TrEMBL

B4DKE6

Conserved Domains (3) summary

cd00009
Location:21 → 179

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:250 → 292

Rep_fac_C; Replication factor C C-terminal domain

pfam13177
Location:19 → 188

DNA_pol3_delta2; DNA polymerase III, delta subunit