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

    Gene ID: 5981, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:9969
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RFC1 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (39287456..39366362, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (39257079..39354488, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39289076..39367982, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374418 Neighboring gene kelch like family member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15367 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:39142898-39143092 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:39168330-39169529 Neighboring gene Sharpr-MPRA regulatory region 13789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21454 Neighboring gene WD repeat domain 19 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:39285877-39286122 Neighboring gene RNA, U6 small nuclear 32, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21457 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?

    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

    Clone Names

    • MGC51786

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA clamp unloader activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA clamp unloader activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables double-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA clamp unloading IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA-templated DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in telomere maintenance via telomerase TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    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 extracellular exosome HDA  
    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

    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)

    NEW Try the new Transcript table

    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
      A8K6E7, P35251, Q5XKF5, Q6PKU0, Q86V41, Q86V46
      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: 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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      39287456..39366362 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416054.1XP_047272010.1  replication factor C subunit 1 isoform X2

    2. XM_011513731.2XP_011512033.1  replication factor C subunit 1 isoform X1

      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

    RNA

    1. XR_007057951.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      39257079..39354488 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350680.1XP_054206655.1  replication factor C subunit 1 isoform X4

    2. XM_054350679.1XP_054206654.1  replication factor C subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      A8K6E7, P35251, Q5XKF5, Q6PKU0, Q86V41, Q86V46
    3. XM_054350681.1XP_054206656.1  replication factor C subunit 1 isoform X2