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RFC1 replication factor C subunit 1 [ Homo sapiens (human) ]

Gene ID: 5981, updated on 9-Feb-2020

Summary

Official Symbol
RFC1provided by HGNC
Official Full Name
replication factor C subunit 1provided by HGNC
Primary source
HGNC:HGNC:9969
See related
Ensembl:ENSG00000035928 MIM:102579
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; RFC; PO-GA; RECC1; CANVAS; MHCBFB; RFC140
Summary
This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
Annotation information
Note: RFC1 (GeneID: 5981) and SLC19A1 (GeneID: 6573) share the RFC1 symbol/alias in common. RFC1 is the official symbol for the gene name 'replication factor C subunit 1' and is an alias for 'reduced folate carrier 1' on the 'solute carrier family 19 member 1' gene. [18 May 2018]
Expression
Ubiquitous expression in lymph node (RPKM 16.8), thyroid (RPKM 15.7) and 25 other tissues See more
Orthologs

Genomic context

See RFC1 in Genome Data Viewer
Location:
4p14
Exon count:
25
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (39287456..39366381, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39289069..39368001, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374418 Neighboring gene kelch like family member 5 Neighboring gene Sharpr-MPRA regulatory region 13789 Neighboring gene WD repeat domain 19 Neighboring gene RNA, U6 small nuclear 32, pseudogene Neighboring gene RNA, U6 small nuclear 887, pseudogene Neighboring gene microRNA 5591 Neighboring gene klotho beta

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
MedGen: C3281223 OMIM: 614575 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
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

  • MGC51786

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA clamp loader activity IEA
Inferred from Electronic Annotation
more info
 
DNA clamp unloader activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
enzyme activator activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
DNA replication factor C complex IDA
Inferred from Direct Assay
more info
PubMed 
Elg1 RFC-like complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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 1
Names
A1 140 kDa subunit
DNA-binding protein PO-GA
MHC binding factor, beta
RF-C 140 kDa subunit
activator 1 140 kDa subunit
activator 1 large subunit
activator 1 subunit 1
replication factor C (activator 1) 1, 145kDa
replication factor C 140 kDa subunit
replication factor C large subunit
replication factor C1

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_001204747.2NP_001191676.1  replication factor C subunit 1 isoform 2

    See identical proteins and their annotated locations for NP_001191676.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at an internal coding exon compared to variant 1, resulting in an isoform (2) that is 1 aa longer than isoform 1.
    Source sequence(s)
    AK291612, BC035297, BC051751, DA336360
    Consensus CDS
    CCDS56329.1
    UniProtKB/Swiss-Prot
    P35251
    Related
    ENSP00000371321.1, ENST00000381897.5
    Conserved Domains (5) summary
    COG5275
    Location:272502
    COG5275; BRCT domain type II [General function prediction only]
    pfam08519
    Location:9151067
    RFC1; Replication factor RFC1 C terminal domain
    cl25701
    Location:5841003
    RuvB_N; Holliday junction DNA helicase ruvB N-terminus
    cl26511
    Location:14404
    Neuromodulin_N; Gap junction protein N-terminal region
    cl27300
    Location:392479
    LIGANc; NAD+ dependent DNA ligase adenylation domain. DNA ligases catalyze the crucial step of joining the breaks in duplex DNA during DNA replication, repair and recombination, utilizing either ATP or NAD(+) as a cofactor, but using the same basic reaction ...
  2. NM_001363495.2NP_001350424.1  replication factor C subunit 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has lacks an alternate, in-frame exon in the coding region compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    AC023135, AC093855
    Conserved Domains (5) summary
    COG5275
    Location:246476
    COG5275; BRCT domain type II [General function prediction only]
    pfam08519
    Location:8881040
    RFC1; Replication factor RFC1 C terminal domain
    cl25701
    Location:558976
    RuvB_N; Holliday junction DNA helicase ruvB N-terminus
    cl26511
    Location:14378
    Neuromodulin_N; Gap junction protein N-terminal region
    cl27300
    Location:366453
    LIGANc; NAD+ dependent DNA ligase adenylation domain. DNA ligases catalyze the crucial step of joining the breaks in duplex DNA during DNA replication, repair and recombination, utilizing either ATP or NAD(+) as a cofactor, but using the same basic reaction ...
  3. NM_001363496.2NP_001350425.1  replication factor C subunit 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region compared to variant 1, resulting in an isoform (4) that is shorter than isoform 1.
    Source sequence(s)
    AC023135, AC093855
    Conserved Domains (5) summary
    COG5275
    Location:246476
    COG5275; BRCT domain type II [General function prediction only]
    pfam08519
    Location:8891041
    RFC1; Replication factor RFC1 C terminal domain
    cl25701
    Location:558977
    RuvB_N; Holliday junction DNA helicase ruvB N-terminus
    cl26511
    Location:14378
    Neuromodulin_N; Gap junction protein N-terminal region
    cl27300
    Location:366453
    LIGANc; NAD+ dependent DNA ligase adenylation domain. DNA ligases catalyze the crucial step of joining the breaks in duplex DNA during DNA replication, repair and recombination, utilizing either ATP or NAD(+) as a cofactor, but using the same basic reaction ...
  4. NM_002913.5NP_002904.3  replication factor C subunit 1 isoform 1

    See identical proteins and their annotated locations for NP_002904.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.
    Source sequence(s)
    BC035297, BC051751, DA336360
    Consensus CDS
    CCDS3450.1
    UniProtKB/Swiss-Prot
    P35251
    Related
    ENSP00000261424.4, ENST00000349703.7
    Conserved Domains (4) summary
    smart00382
    Location:647777
    AAA; ATPases associated with a variety of cellular activities
    cd00027
    Location:409480
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam00004
    Location:647775
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam08519
    Location:9141067
    RFC1; Replication factor RFC1 C terminal domain

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    39287456..39366381 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513731.1XP_011512033.1  replication factor C subunit 1 isoform X3

    Conserved Domains (3) summary
    cd00027
    Location:409480
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam08519
    Location:745898
    RFC1; Replication factor RFC1 C terminal domain
    cl21455
    Location:497606
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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