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

    Gene ID: 5983, updated on 10-Dec-2024

    Summary

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    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

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    See RFC3 in Genome Data Viewer
    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_000013.11Genomic Context describing neighboring genes Neighboring gene StAR related lipid transfer domain containing 13 Neighboring gene uncharacterized LOC102723406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7585 Neighboring gene uncharacterized LOC107984551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5257 Neighboring gene RNA, U5A small nuclear 4, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:34514923-34515422 Neighboring gene uncharacterized LOC105370156 Neighboring gene uncharacterized LOC107984589

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Abnormal activation of RFC3, A YAP1/TEAD downstream target, promotes gastric cancer progression. Guo Z, et al. Int J Clin Oncol, 2024 Apr. PMID 38383698
    2. RFC3 serves as a novel prognostic biomarker and target for head and neck squamous cell carcinoma. Avs KR, et al. Clin Oral Investig, 2023 Nov. PMID 37861747
    3. Mutational and expressional analysis of RFC3, a clamp loader in DNA replication, in gastric and colorectal cancers. Kim YR, et al. Hum Pathol, 2010 Oct. PMID 20573375
    4. Integrative genomics identified RFC3 as an amplified candidate oncogene in esophageal adenocarcinoma. Lockwood WW, et al. Clin Cancer Res, 2012 Apr 1. PMID 22328562, Free PMC Article
    5. Overexpression of RFC3 is correlated with ovarian tumor development and poor prognosis. Shen H, et al. Tumour Biol, 2014 Oct. PMID 25030735

    See all (193) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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. 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.
    10. 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC5276

    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)

    1. 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

    2. 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

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      33818149..33977377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. XM_047430491.1 → XP_047286447.1  replication factor C subunit 3 isoform X2

      UniProtKB/TrEMBL
      B4DKE6

    3. XM_047430492.1 → XP_047286448.1  replication factor C subunit 3 isoform X6

      UniProtKB/TrEMBL
      B4DKE6

    4. 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

    5. XM_017020683.3 → XP_016876172.1  replication factor C subunit 3 isoform X7

      UniProtKB/TrEMBL
      B4DKE6

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

      UniProtKB/TrEMBL
      B4DKE6

    7. XM_047430489.1 → XP_047286445.1  replication factor C subunit 3 isoform X2

      UniProtKB/TrEMBL
      B4DKE6

    8. XM_047430490.1 → XP_047286446.1  replication factor C subunit 3 isoform X2

      UniProtKB/TrEMBL
      B4DKE6

    9. 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

    10. 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

    11. 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

    RNA

    1. XR_007063695.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      33035631..33299073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374774.1 → XP_054230749.1  replication factor C subunit 3 isoform X8

      UniProtKB/TrEMBL
      B4DKE6

    2. XM_054374776.1 → XP_054230751.1  replication factor C subunit 3 isoform X9

      UniProtKB/TrEMBL
      B4DKE6

    3. XM_054374781.1 → XP_054230756.1  replication factor C subunit 3 isoform X4

      UniProtKB/TrEMBL
      B4DKE6

    4. XM_054374779.1 → XP_054230754.1  replication factor C subunit 3 isoform X2

      UniProtKB/TrEMBL
      B4DKE6

    5. XM_054374784.1 → XP_054230759.1  replication factor C subunit 3 isoform X6

      UniProtKB/TrEMBL
      B4DKE6

    6. XM_054374780.1 → XP_054230755.1  replication factor C subunit 3 isoform X3

      UniProtKB/TrEMBL
      B4DKE6

    7. XM_054374785.1 → XP_054230760.1  replication factor C subunit 3 isoform X7

      UniProtKB/TrEMBL
      B4DKE6

    8. XM_054374783.1 → XP_054230758.1  replication factor C subunit 3 isoform X6

      UniProtKB/TrEMBL
      B4DKE6

    9. XM_054374777.1 → XP_054230752.1  replication factor C subunit 3 isoform X2

      UniProtKB/TrEMBL
      B4DKE6

    10. XM_054374778.1 → XP_054230753.1  replication factor C subunit 3 isoform X2

      UniProtKB/TrEMBL
      B4DKE6

    11. XM_054374775.1 → XP_054230750.1  replication factor C subunit 3 isoform X1

      UniProtKB/TrEMBL
      B4DKE6

    12. XM_054374782.1 → XP_054230757.1  replication factor C subunit 3 isoform X5

      UniProtKB/TrEMBL
      B4DKE6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P40938.2 GenPept UniProtKB/Swiss-Prot:P40938

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