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RFC1 (replication factor C (activator 1) 1, 145kDa)

Identity

Other namesA1
MHCBFB
PO-GA
RECC1
RFC
RFC140
HGNC (Hugo) RFC1
LocusID (NCBI) 5981
Location 4p14
Location_base_pair Starts at 39289069 and ends at 39368001 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)RFC1   9969
Cards
Entrez_Gene (NCBI)RFC1  5981  replication factor C (activator 1) 1, 145kDa
GeneCards (Weizmann)RFC1
Ensembl hg19 (Hinxton)ENSG00000035928 [Gene_View]  chr4:39289069-39368001 [Contig_View]  RFC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000035928 [Gene_View]  chr4:39289069-39368001 [Contig_View]  RFC1 [Vega]
ICGC DataPortalENSG00000035928
cBioPortalRFC1
AceView (NCBI)RFC1
Genatlas (Paris)RFC1
WikiGenes5981
SOURCE (Princeton)RFC1
Genomic and cartography
GoldenPath hg19 (UCSC)RFC1  -     chr4:39289069-39368001 -  4p14   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RFC1  -     4p14   [Description]    (hg38-Dec_2013)
EnsemblRFC1 - 4p14 [CytoView hg19]  RFC1 - 4p14 [CytoView hg38]
Mapping of homologs : NCBIRFC1 [Mapview hg19]  RFC1 [Mapview hg38]
OMIM102579   
Gene and transcription
Genbank (Entrez)AF040250 AJ564999 AK291612 BC010387 BC035297
RefSeq transcript (Entrez)NM_001204747 NM_002913
RefSeq genomic (Entrez)AC_000136 NC_000004 NC_018915 NT_006238 NW_001838902 NW_004929317
Consensus coding sequences : CCDS (NCBI)RFC1
Cluster EST : UnigeneHs.507475 [ NCBI ]
CGAP (NCI)Hs.507475
Alternative Splicing : Fast-db (Paris)GSHG0023204
Alternative Splicing GalleryENSG00000035928
Gene ExpressionRFC1 [ NCBI-GEO ]     RFC1 [ SEEK ]   RFC1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35251 (Uniprot)
NextProtP35251  [Medical]
With graphics : InterProP35251
Splice isoforms : SwissVarP35251 (Swissvar)
Domaine pattern : Prosite (Expaxy)BRCT (PS50172)   
Domains : Interpro (EBI)AAA+_ATPase    ATPase_AAA_core    BRCT_dom    DNA_pol3_clamp-load_cplx_C    DNA_replication_fac_C_lsu    DNA_replication_fac_RFC1_C    P-loop_NTPase   
Related proteins : CluSTrP35251
Domain families : Pfam (Sanger)AAA (PF00004)    BRCT (PF00533)    RFC1 (PF08519)   
Domain families : Pfam (NCBI)pfam00004    pfam00533    pfam08519   
Domain families : Smart (EMBL)AAA (SM00382)  BRCT (SM00292)  
DMDM Disease mutations5981
Blocks (Seattle)P35251
PDB (SRS)2EBU    2K6G    2K7F   
PDB (PDBSum)2EBU    2K6G    2K7F   
PDB (IMB)2EBU    2K6G    2K7F   
PDB (RSDB)2EBU    2K6G    2K7F   
Human Protein AtlasENSG00000035928
Peptide AtlasP35251
HPRD00024
IPIIPI00375358   IPI00375359   IPI00382816   IPI00965714   IPI00964047   IPI00966063   IPI00965979   
Protein Interaction databases
DIP (DOE-UCLA)P35251
IntAct (EBI)P35251
FunCoupENSG00000035928
BioGRIDRFC1
IntegromeDBRFC1
STRING (EMBL)RFC1
Ontologies - Pathways
QuickGOP35251
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  mitotic cell cycle  telomere maintenance via recombination  telomere maintenance  DNA binding  DNA clamp loader activity  double-stranded DNA binding  protein binding  ATP binding  nucleus  nucleoplasm  DNA replication factor C complex  nucleolus  Golgi apparatus  ATP catabolic process  DNA-dependent DNA replication  DNA strand elongation involved in DNA replication  DNA repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair, DNA gap filling  transcription, DNA-templated  telomere maintenance via telomerase  enzyme activator activity  protein domain specific binding  cell junction  telomere maintenance via semi-conservative replication  positive regulation of catalytic activity  sequence-specific DNA binding  positive regulation of transcription, DNA-templated  extracellular vesicular exosome  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  mitotic cell cycle  telomere maintenance via recombination  telomere maintenance  DNA binding  DNA clamp loader activity  double-stranded DNA binding  protein binding  ATP binding  nucleus  nucleoplasm  DNA replication factor C complex  nucleolus  Golgi apparatus  ATP catabolic process  DNA-dependent DNA replication  DNA strand elongation involved in DNA replication  DNA repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair, DNA gap filling  transcription, DNA-templated  telomere maintenance via telomerase  enzyme activator activity  protein domain specific binding  cell junction  telomere maintenance via semi-conservative replication  positive regulation of catalytic activity  sequence-specific DNA binding  positive regulation of transcription, DNA-templated  extracellular vesicular exosome  
Pathways : BIOCARTAALK in cardiac myocytes [Genes]   
Pathways : KEGGDNA replication    Nucleotide excision repair    Mismatch repair   
Protein Interaction DatabaseRFC1
DoCM (Curated mutations)RFC1
Wikipedia pathwaysRFC1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerRFC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RFC1
dbVarRFC1
ClinVarRFC1
1000_GenomesRFC1 
Exome Variant ServerRFC1
SNP (GeneSNP Utah)RFC1
SNP : HGBaseRFC1
Genetic variants : HAPMAPRFC1
Genomic VariantsRFC1  RFC1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000035928 
Somatic Mutations in Cancer : COSMICRFC1 
CONAN: Copy Number AnalysisRFC1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)4:39289069-39368001
Mutations and Diseases : HGMDRFC1
OMIM102579   
MedgenRFC1
NextProtP35251 [Medical]
GENETestsRFC1
Disease Genetic AssociationRFC1
Huge Navigator RFC1 [HugePedia]  RFC1 [HugeCancerGEM]
snp3D : Map Gene to Disease5981
DGIdb (Drug Gene Interaction db)RFC1
General knowledge
Homologs : HomoloGeneRFC1
Homology/Alignments : Family Browser (UCSC)RFC1
Phylogenetic Trees/Animal Genes : TreeFamRFC1
Chemical/Protein Interactions : CTD5981
Chemical/Pharm GKB GenePA34338
Clinical trialRFC1
Cancer Resource (Charite)ENSG00000035928
Other databases
Probes
Litterature
PubMed175 Pubmed reference(s) in Entrez
CoreMineRFC1
GoPubMedRFC1
iHOPRFC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:09:19 CET 2014

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