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

Gene ID: 5985, updated on 9-Feb-2020

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
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

Genomic context

See RFC5 in Genome Data Viewer
Location:
12q24.23
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (118016661..118033564)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (118454506..118470044)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11046 Neighboring gene kinase suppressor of ras 2 Neighboring gene uncharacterized LOC105370011 Neighboring gene WD repeat and SOCS box containing 2 Neighboring gene uncharacterized LOC101928274 Neighboring gene V-set and immunoglobulin domain containing 10 Neighboring gene Sharpr-MPRA regulatory region 576

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1155

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP 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 
enzyme binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to single-stranded DNA-dependent ATP-dependent DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA damage response, detection of DNA damage TAS
Traceable Author Statement
more info
 
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA repair NAS
Non-traceable Author Statement
more info
PubMed 
DNA replication NAS
Non-traceable Author Statement
more info
PubMed 
DNA replication TAS
Traceable Author Statement
more info
 
DNA-dependent DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
error-free translesion synthesis TAS
Traceable Author Statement
more info
 
error-prone translesion synthesis TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA gap filling TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 5'-to lesion TAS
Traceable Author Statement
more info
 
positive regulation of DNA-directed DNA polymerase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
telomere maintenance via semi-conservative replication TAS
Traceable Author Statement
more info
 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
translesion synthesis TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Ctf18 RFC-like complex IDA
Inferred from Direct Assay
more info
PubMed 
DNA replication factor C complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA replication factor C complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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_001130112.3NP_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)
    AC131159, AI567945, AU121576, BC001866
    UniProtKB/Swiss-Prot
    P40937
    Conserved Domains (3) summary
    cd00009
    Location:291
    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:173242
    Rep_fac_C; Replication factor C C-terminal domain
    pfam16193
    Location:107135
    AAA_assoc_2; AAA C-terminal domain
  2. NM_001130113.2NP_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)
    AC131159, AI567945, AK094575, BC001866, DB270923
    UniProtKB/Swiss-Prot
    P40937
    Conserved Domains (1) summary
    cl25702
    Location:2308
    Rad17; Rad17 cell cycle checkpoint protein
  3. NM_001206801.2NP_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, AC131159, AI567945, AU121576
    UniProtKB/TrEMBL
    Q59GW7
    Conserved Domains (4) summary
    cd00009
    Location:35176
    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:16326
    rfc; replication factor C small subunit; Reviewed
    pfam08542
    Location:258324
    Rep_fac_C; Replication factor C C-terminal domain
    pfam16193
    Location:192220
    AAA_assoc_2; AAA C-terminal domain
  4. NM_001346815.1NP_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
  5. NM_007370.7NP_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
    P40937
    Related
    ENSP00000408295.2, ENST00000454402.7
    Conserved Domains (1) summary
    cl25702
    Location:16329
    Rad17; Rad17 cell cycle checkpoint protein
  6. NM_181578.4NP_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, AI567945, AK094575, AU121576, BC001866
    Consensus CDS
    CCDS41843.2
    UniProtKB/Swiss-Prot
    P40937
    Related
    ENSP00000376325.2, ENST00000392542.6
    Conserved Domains (1) summary
    cl25702
    Location:2308
    Rad17; Rad17 cell cycle checkpoint protein

RNA

  1. NR_144504.1 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    118016661..118033564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449118.1XP_024304886.1  replication factor C subunit 5 isoform X2

    Conserved Domains (1) summary
    cl25702
    Location:2308
    Rad17; Rad17 cell cycle checkpoint protein
  2. XM_024449119.1XP_024304887.1  replication factor C subunit 5 isoform X4

  3. XM_017019779.2XP_016875268.1  replication factor C subunit 5 isoform X3

  4. XM_011538643.3XP_011536945.1  replication factor C subunit 5 isoform X1

    See identical proteins and their annotated locations for XP_011536945.1

    UniProtKB/Swiss-Prot
    P40937
    Conserved Domains (1) summary
    cl25702
    Location:16329
    Rad17; Rad17 cell cycle checkpoint protein
  5. XM_011538645.3XP_011536947.1  replication factor C subunit 5 isoform X1

    See identical proteins and their annotated locations for XP_011536947.1

    UniProtKB/Swiss-Prot
    P40937
    Conserved Domains (1) summary
    cl25702
    Location:16329
    Rad17; Rad17 cell cycle checkpoint protein
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