RFC4 replication factor C subunit 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RFC4provided by HGNC
Official Full Name: replication factor C subunit 4provided by HGNC
Primary source: HGNC:HGNC:9972
See related: Ensembl:ENSG00000163918 MIM:102577; AllianceGenome:HGNC:9972
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: A1; RFC37
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 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 108.6), ovary (RPKM 88.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (186789900..186806482, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (189611930..189628517, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (186507689..186524271, complement)

Chromosome 3 - NC_000003.12 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
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?

Knockdown of RFC4 inhibits the cell proliferation of nasopharyngeal carcinoma in vitro and in vivo.
Title: Knockdown of RFC4 inhibits the cell proliferation of nasopharyngeal carcinoma in vitro and in vivo.
Sequential gene expression analysis of cervical malignant transformation identifies RFC4 as a novel diagnostic and prognostic biomarker.
Title: Sequential gene expression analysis of cervical malignant transformation identifies RFC4 as a novel diagnostic and prognostic biomarker.
The upregulated expression of RFC4 and GMPS mediated by DNA copy number alteration is associated with the early diagnosis and immune escape of ESCC based on a bioinformatic analysis.
Title: The upregulated expression of RFC4 and GMPS mediated by DNA copy number alteration is associated with the early diagnosis and immune escape of ESCC based on a bioinformatic analysis.
RFC4 promotes the progression and growth of Oral Tongue squamous cell carcinoma in vivo and vitro.
Title: RFC4 promotes the progression and growth of Oral Tongue squamous cell carcinoma in vivo and vitro.
An RFC4/Notch1 signaling feedback loop promotes NSCLC metastasis and stemness.
Title: An RFC4/Notch1 signaling feedback loop promotes NSCLC metastasis and stemness.
High RFC4 levels are associated with radioresistance.
Title: Genome-wide RNAi Screening Identifies RFC4 as a Factor That Mediates Radioresistance in Colorectal Cancer by Facilitating Nonhomologous End Joining Repair.
Expression level of RFC4 was up regulated in cervical squamous cell carcinoma.
Title: Systematic identification of key genes and pathways in the development of invasive cervical cancer.
RFC4 is frequently overexpressed in CRC, and is associated with tumor progression and worse survival outcome. This might be attributed to the regulation of CRC cell proliferation and cell cycle arrest by RFC4
Title: Levels of human replication factor C4, a clamp loader, correlate with tumor progression and predict the prognosis for colorectal cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Polymorphisms in the base excision repair pathway and graft-versus-host disease.
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
Title: Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. 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	Expression of HIV-1 Tat downregulates the abundance of replication factor C, subunit 4 (RFC4, 37kDa) in the nucleoli of Jurkat T-cells	PubMed
	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

SHGC-30529 (e-PCR)
- UniSTS:39998

RH68259 (e-PCR)
- UniSTS:85133

G67576 (e-PCR)
- UniSTS:207052

G67575 (e-PCR)
- UniSTS:207053

G67572 (e-PCR)
- UniSTS:207054

G67573 (e-PCR)
- UniSTS:207055

G67574 (e-PCR)
- UniSTS:207056

D3S3408 (e-PCR)
- UniSTS:153853

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
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 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 strand elongation involved in DNA replication	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

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 Elg1 RFC-like complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
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 4

Names: A1 37 kDa subunit; RF-C 37 kDa subunit; RFC 37 kDa subunit; activator 1 37 kDa subunit; activator 1 subunit 4; replication factor C (activator 1) 4, 37kDa; replication factor C 37 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_002916.5 → NP_002907.1 replication factor C subunit 4

See identical proteins and their annotated locations for NP_002907.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1 and 2 encode the same isoform.

Source sequence(s)

AA521171, AC112907, BC017452, DA359927

Consensus CDS

CCDS3283.1

UniProtKB/Swiss-Prot

B4DM41, D3DNV2, P35249, Q6FHX7

UniProtKB/TrEMBL

C9JZI1

Related

ENSP00000296273.2, ENST00000296273.7

Conserved Domains (1) summary

cl25702
Location:39 → 353

Rad17; Rad17 cell cycle checkpoint protein
NM_181573.3 → NP_853551.1 replication factor C subunit 4

See identical proteins and their annotated locations for NP_853551.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.

Source sequence(s)

AA521171, AC112907, CX788139

Consensus CDS

CCDS3283.1

UniProtKB/Swiss-Prot

B4DM41, D3DNV2, P35249, Q6FHX7

UniProtKB/TrEMBL

C9JZI1

Related

ENSP00000376272.2, ENST00000392481.6

Conserved Domains (1) summary

cl25702
Location:39 → 353

Rad17; Rad17 cell cycle checkpoint protein