RFC5 replication factor C subunit 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RFC5provided by HGNC
Official Full Name: replication factor C subunit 5provided by HGNC
Primary source: HGNC:HGNC:9973
See related: Ensembl:ENSG00000111445 MIM:600407; AllianceGenome:HGNC:9973
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: RFC36
Summary: This gene encodes the smallest subunit of the replication factor C complex, which consists of five distinct subunits (140, 40, 38, 37, and 36 kDa) and is required for DNA replication. This subunit interacts with the C-terminal region of proliferating cell nuclear antigen and is required to open and load proliferating cell nuclear antigen onto DNA during S phase. It is a member of the AAA+ (ATPases associated with various cellular activities) ATPase family and forms a core complex with the 38 and 40 kDa subunits that possesses DNA-dependent ATPase activity. A related pseudogene has been identified on chromosome 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Expression: Ubiquitous expression in brain (RPKM 10.5), thyroid (RPKM 6.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.23

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (118016703..118041448)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (118003997..118021853)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (118454508..118470039)

Chromosome 12 - NC_000012.12 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?

Prognostic biomarker replication factor C subunit 5 and its correlation with immune infiltrates in acute myeloid leukemia.
Title: Prognostic biomarker replication factor C subunit 5 and its correlation with immune infiltrates in acute myeloid leukemia.
AEG-1 Knockdown Sensitizes Glioma Cells to Radiation Through Impairing Homologous Recombination Via Targeting RFC5.
Title: AEG-1 Knockdown Sensitizes Glioma Cells to Radiation Through Impairing Homologous Recombination Via Targeting RFC5.
Authors showed that RFC5 expression is positively correlated with FoxM1 expression in human glioma cells and FoxM1 is able to transcriptionally activate RFC expression by interaction with the RFC5 promoter.
Title: FoxM1-mediated RFC5 expression promotes temozolomide resistance.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
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

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
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

RH65239 (e-PCR)
- UniSTS:89350

D12S1874 (e-PCR)
- UniSTS:28480

D12S1213E (e-PCR)
- UniSTS:32877

G64848 (e-PCR)
- UniSTS:164819

D12S1776 (e-PCR)
- UniSTS:78807

A007E48 (e-PCR)
- UniSTS:20975

WI-13177 (e-PCR)
- UniSTS:66801

Homology

Homologs of the RFC5 gene: The RFC5 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 487 organisms have orthologs with human gene RFC5
Orthologs

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	PubMed
contributes_to DNA clamp loader activity	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	NAS Non-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	PubMed
involved_in DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA replication	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA-templated DNA replication	IBA Inferred from Biological aspect of Ancestor 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	PubMed
part_of DNA replication factor C complex	IDA Inferred from Direct Assay 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	PubMed

General protein information

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Preferred Names: replication factor C subunit 5

Names: A1 36 kDa subunit; RF-C 36 kDa subunit; RFC, 36.5 kD subunit; replication factor C (activator 1) 5, 36.5kDa; replication factor C, 36-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_001130112.4 → NP_001123584.1 replication factor C subunit 5 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The resulting isoform (3) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AU121576, BC001866

UniProtKB/Swiss-Prot

P40937

Conserved Domains (1) summary

cl25702
Location:3 → 244

Rad17; Rad17 cell cycle checkpoint protein
NM_001130113.3 → NP_001123585.1 replication factor C subunit 5 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The resulting isoform (2) has a distinct and shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2).

Source sequence(s)

AK094575, BC001866, DB270923

UniProtKB/Swiss-Prot

P40937

Conserved Domains (1) summary

cl25702
Location:2 → 308

Rad17; Rad17 cell cycle checkpoint protein
NM_001206801.3 → NP_001193730.1 replication factor C subunit 5 isoform 4

See identical proteins and their annotated locations for NP_001193730.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (4) is shorter than isoform 1.

Source sequence(s)

AB208992, AI567945, AU121576

UniProtKB/TrEMBL

Q59GW7

Conserved Domains (4) summary

cd00009
Location:35 → 176

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, ...

PRK00440
Location:16 → 326

rfc; replication factor C small subunit; Reviewed

pfam08542
Location:258 → 324

Rep_fac_C; Replication factor C C-terminal domain

pfam16193
Location:192 → 220

AAA_assoc_2; AAA C-terminal domain
NM_001346815.2 → NP_001333744.1 replication factor C subunit 5 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, uses an alternate in-frame splice site in the coding region, and intitiates translation at a downstream in-frame start codon, compared to variant 1. The resulting isoform (5) is shorter than isoform 1.

Source sequence(s)

AC131159, AI567945
NM_007370.7 → NP_031396.1 replication factor C subunit 5 isoform 1

See identical proteins and their annotated locations for NP_031396.1

Status: REVIEWED

Description

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

Source sequence(s)

AU121576, BC001866

Consensus CDS

CCDS9185.1

UniProtKB/Swiss-Prot

B3KSX8, P40937

Related

ENSP00000408295.2, ENST00000454402.7

Conserved Domains (1) summary

PRK00440
Location:16 → 329

rfc; replication factor C small subunit; Reviewed
NM_181578.5 → NP_853556.2 replication factor C subunit 5 isoform 2

See identical proteins and their annotated locations for NP_853556.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The resulting isoform (2) has a distinct and shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2).

Source sequence(s)

AC131159, AK094575, AU121576, BC001866

Consensus CDS

CCDS41843.2

UniProtKB/Swiss-Prot

P40937

Related

ENSP00000376325.2, ENST00000392542.6

Conserved Domains (1) summary

cl25702
Location:2 → 308

Rad17; Rad17 cell cycle checkpoint protein

RNA

NR_144504.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC131159, AI567945