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    Rfc1 replication factor C subunit 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 89809, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Rfc1provided by RGD
    Official Full Name
    replication factor C subunit 1provided by RGD
    Primary source
    RGD:620619
    See related
    EnsemblRapid:ENSRNOG00000002855 AllianceGenome:RGD:620619
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Recc1
    Summary
    Enables DNA binding activity; DNA-binding transcription factor binding activity; and protein domain specific binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of DNA-templated transcription. Located in nucleus. Part of protein-containing complex. Human ortholog(s) of this gene implicated in West Nile fever and congenital heart disease. Orthologous to human RFC1 (replication factor C subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Spleen (RPKM 205.8), Thymus (RPKM 171.6) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Rfc1 in Genome Data Viewer
    Location:
    14p11
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 14 NC_086032.1 (43319768..43395028)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 14 NC_051349.1 (42966279..43041372)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 14 NC_005113.4 (44627528..44702205)

    Chromosome 14 - NC_086032.1Genomic Context describing neighboring genes Neighboring gene klotho beta Neighboring gene 40S ribosomal protein S13 pseudogene Neighboring gene ribosomal protein L32 like 5 Neighboring gene small nucleolar RNA SNORA77 Neighboring gene WD repeat domain 19 Neighboring gene heterogeneous nuclear ribonucleoprotein A1, pseudogene 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation. Schmitt GDS, et al. Clin Neurophysiol, 2022 Oct. PMID 35970061
    2. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Cortese A, et al. Brain, 2020 Feb 1. PMID 32040566, Free PMC Article
    3. Idiopathic Pulmonary Arterial Hypertension: Network-Based Integration of Multi-Omics Data Reveals New Molecular Signatures and Candidate Drugs. Kasavi C. OMICS, 2023 Jul. PMID 37410515
    4. Modulation of the DNA repair system and ATR-p53 mediated apoptosis is relevant for tributyltin-induced genotoxic effects in human hepatoma G2 cells. Li B, et al. J Environ Sci (China), 2015 Jan 1. PMID 25597668
    5. Detecting maternal-fetal genotype interactions associated with conotruncal heart defects: a haplotype-based analysis with penalized logistic regression. Li M, et al. Genet Epidemiol, 2014 Apr. PMID 24585533, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Placental Rfc1 transport during pregnancy is reported.
      Title: Placental folate transport during pregnancy.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of DNA replication factor C complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of Elg1 RFC-like complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    replication factor C subunit 1
    Names
    replication factor C (activator 1) 1
    replication factor C 1

    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)

    1. NM_053547.1 → NP_445999.1  replication factor C subunit 1

      Status: VALIDATED

      Source sequence(s)
      AF030050, AF059678, AW144844, BM385730, BM391856, CB608083, CO559697, CV110819
      UniProtKB/TrEMBL
      D3ZFT1
      Related
      ENSRNOP00000069524.3, ENSRNOT00000088674.3
      Conserved Domains (4) summary
      smart00382
      Location:630 → 760
      AAA; ATPases associated with a variety of cellular activities
      cd00027
      Location:404 → 475
      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:630 → 758
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam08519
      Location:897 → 1050
      RFC1; Replication factor RFC1 C terminal domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086032.1 Reference GRCr8

      Range
      43319768..43395028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063273687.1 → XP_063129757.1  replication factor C subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JVK8

    2. XM_039092517.2 → XP_038948445.1  replication factor C subunit 1 isoform X5

      UniProtKB/TrEMBL
      D3ZFT1
      Conserved Domains (5) summary
      PTZ00121
      Location:19 → 563
      PTZ00121; MAEBL; Provisional
      PRK04195
      Location:567 → 986
      PRK04195; replication factor C large subunit; Provisional
      PRK06195
      Location:312 → 476
      PRK06195; DNA polymerase III subunit epsilon; Validated
      cd17752
      Location:398 → 476
      BRCT_RFC1; BRCT domain of replication factor C subunit 1 (RFC1) and similar proteins
      pfam08519
      Location:898 → 1051
      RFC1; Replication factor RFC1 C terminal domain

    3. XM_039092518.2 → XP_038948446.1  replication factor C subunit 1 isoform X6

      UniProtKB/TrEMBL
      A6JDF1, D3ZFT1
      Related
      ENSRNOP00000003907.7, ENSRNOT00000003907.9
      Conserved Domains (5) summary
      PTZ00121
      Location:19 → 563
      PTZ00121; MAEBL; Provisional
      PRK04195
      Location:567 → 986
      PRK04195; replication factor C large subunit; Provisional
      PRK06195
      Location:312 → 476
      PRK06195; DNA polymerase III subunit epsilon; Validated
      cd17752
      Location:398 → 476
      BRCT_RFC1; BRCT domain of replication factor C subunit 1 (RFC1) and similar proteins
      pfam08519
      Location:898 → 1051
      RFC1; Replication factor RFC1 C terminal domain

    4. XM_063273690.1 → XP_063129760.1  replication factor C subunit 1 isoform X3

      UniProtKB/TrEMBL
      A0A0G2JVK8

    5. XM_039092519.2 → XP_038948447.1  replication factor C subunit 1 isoform X7

      UniProtKB/TrEMBL
      D3ZFT1
      Conserved Domains (5) summary
      PTZ00121
      Location:19 → 563
      PTZ00121; MAEBL; Provisional
      PRK04195
      Location:567 → 985
      PRK04195; replication factor C large subunit; Provisional
      PRK06195
      Location:312 → 476
      PRK06195; DNA polymerase III subunit epsilon; Validated
      cd17752
      Location:398 → 476
      BRCT_RFC1; BRCT domain of replication factor C subunit 1 (RFC1) and similar proteins
      pfam08519
      Location:897 → 1050
      RFC1; Replication factor RFC1 C terminal domain

    6. XM_039092520.2 → XP_038948448.1  replication factor C subunit 1 isoform X10

      UniProtKB/TrEMBL
      D3ZFT1
      Conserved Domains (5) summary
      PTZ00121
      Location:19 → 563
      PTZ00121; MAEBL; Provisional
      PRK04195
      Location:567 → 985
      PRK04195; replication factor C large subunit; Provisional
      PRK06195
      Location:312 → 476
      PRK06195; DNA polymerase III subunit epsilon; Validated
      cd17752
      Location:398 → 476
      BRCT_RFC1; BRCT domain of replication factor C subunit 1 (RFC1) and similar proteins
      pfam08519
      Location:897 → 1050
      RFC1; Replication factor RFC1 C terminal domain

    7. XM_063273689.1 → XP_063129759.1  replication factor C subunit 1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JVK8

    8. XM_063273692.1 → XP_063129762.1  replication factor C subunit 1 isoform X8

      UniProtKB/TrEMBL
      D3ZFT1

    9. XM_063273691.1 → XP_063129761.1  replication factor C subunit 1 isoform X4

      UniProtKB/TrEMBL
      A0A0G2JVK8

    10. XM_006250972.5 → XP_006251034.1  replication factor C subunit 1 isoform X9

      UniProtKB/TrEMBL
      D3ZFT1
      Conserved Domains (4) summary
      smart00382
      Location:629 → 759
      AAA; ATPases associated with a variety of cellular activities
      cd00027
      Location:404 → 475
      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:629 → 757
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam08519
      Location:896 → 1049
      RFC1; Replication factor RFC1 C terminal domain

    11. XM_008770162.4 → XP_008768384.1  replication factor C subunit 1 isoform X11

      UniProtKB/TrEMBL
      D3ZFT1
      Conserved Domains (4) summary
      smart00382
      Location:629 → 759
      AAA; ATPases associated with a variety of cellular activities
      cd00027
      Location:404 → 475
      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:629 → 757
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam08519
      Location:896 → 1049
      RFC1; Replication factor RFC1 C terminal domain

    12. XM_063273693.1 → XP_063129763.1  replication factor C subunit 1 isoform X12

      UniProtKB/TrEMBL
      A0A0G2JVK8

    13. XM_063273694.1 → XP_063129764.1  replication factor C subunit 1 isoform X13

      UniProtKB/TrEMBL
      A0A0G2JVK8

    14. XM_063273695.1 → XP_063129765.1  replication factor C subunit 1 isoform X14

    Nucleotide Protein Strain
    Heading Accession and Version

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