RFC1 (replication factor C subunit 1) - Rat Genome Database

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Gene: RFC1 (replication factor C subunit 1) Homo sapiens
Analyze
Symbol: RFC1
Name: replication factor C subunit 1
RGD ID: 1353491
HGNC Page HGNC:9969
Description: Enables DNA clamp unloader activity. Involved in DNA clamp unloading. Located in nucleoplasm. Part of DNA replication factor C complex and Elg1 RFC-like complex. Implicated in West Nile fever.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A1; A1 140 kDa subunit; activator 1 140 kDa subunit; activator 1 large subunit; activator 1 subunit 1; CANVAS; DNA-binding protein PO-GA; MGC51786; MHC binding factor, beta; MHCBFB; PO-GA; RECC1; replication factor C (activator 1) 1, 145kDa; replication factor C 140 kDa subunit; replication factor C large subunit; replication factor C1; RF-C 140 kDa subunit; RFC; RFC140
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI 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]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38439,287,456 - 39,366,362 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl439,287,456 - 39,366,375 (-)EnsemblGRCh38hg38GRCh38
GRCh37439,289,076 - 39,367,982 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36438,965,471 - 39,044,390 (-)NCBINCBI36Build 36hg18NCBI36
Build 34439,111,641 - 39,190,561NCBI
Celera439,726,898 - 39,805,822 (-)NCBICelera
Cytogenetic Map4p14NCBI
HuRef438,614,348 - 38,693,267 (-)NCBIHuRef
CHM1_1439,288,683 - 39,367,619 (-)NCBICHM1_1
T2T-CHM13v2.0439,257,079 - 39,336,004 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Cortese A, etal., Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418.
2. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Cortese A, etal., Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Replication clamps and clamp loaders. Hedglin M, etal., Cold Spring Harb Perspect Biol. 2013 Apr 1;5(4):a010165. doi: 10.1101/cshperspect.a010165.
5. Mechanisms and functions of DNA mismatch repair. Li GM Cell Res. 2008 Jan;18(1):85-98.
6. Genetic variants and susceptibility to neurological complications following West Nile virus infection. Loeb M, etal., J Infect Dis. 2011 Oct 1;204(7):1031-7. doi: 10.1093/infdis/jir493.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7914507   PMID:8114700   PMID:8248204   PMID:8512577   PMID:8692848   PMID:8861969   PMID:8954124   PMID:8999859   PMID:9092549   PMID:9111189   PMID:9121429   PMID:9235961  
PMID:9351817   PMID:9488738   PMID:9563011   PMID:9649448   PMID:9705493   PMID:9822671   PMID:10353443   PMID:10783165   PMID:11877377   PMID:12045192   PMID:12171929   PMID:12192049  
PMID:12220650   PMID:12393188   PMID:12400013   PMID:12477932   PMID:12509469   PMID:12673279   PMID:12766176   PMID:12947101   PMID:15161933   PMID:15225546   PMID:15302935   PMID:15489334  
PMID:15635413   PMID:15655353   PMID:15772763   PMID:16289162   PMID:16344560   PMID:16438930   PMID:16449650   PMID:16565220   PMID:16964243   PMID:17081983   PMID:17148452   PMID:17545166  
PMID:18245774   PMID:18258338   PMID:18273817   PMID:18447718   PMID:18823966   PMID:19208620   PMID:19223468   PMID:19237606   PMID:19454010   PMID:19714462   PMID:19774638   PMID:19913121  
PMID:19956635   PMID:20081198   PMID:20211142   PMID:20226869   PMID:20301317   PMID:20522537   PMID:20574454   PMID:20628086   PMID:20713449   PMID:21280222   PMID:21654808   PMID:21873635  
PMID:21900206   PMID:21907836   PMID:22168243   PMID:22586326   PMID:22939629   PMID:22952233   PMID:23022380   PMID:23254330   PMID:23277426   PMID:24097068   PMID:24104479   PMID:24332808  
PMID:24958773   PMID:24981860   PMID:25071216   PMID:25184681   PMID:25281560   PMID:25921289   PMID:26095369   PMID:26186194   PMID:26344197   PMID:26446488   PMID:26474068   PMID:26496610  
PMID:26549023   PMID:27248496   PMID:27453043   PMID:27462463   PMID:27634302   PMID:27684187   PMID:27976729   PMID:28190767   PMID:28192407   PMID:28199690   PMID:28514442   PMID:28515276  
PMID:28977666   PMID:29229926   PMID:29467282   PMID:29507755   PMID:29568061   PMID:29802200   PMID:29844126   PMID:29937341   PMID:29991511   PMID:30021884   PMID:30154076   PMID:30209976  
PMID:30301766   PMID:30335157   PMID:30462309   PMID:30463901   PMID:30554943   PMID:30585729   PMID:30804502   PMID:30833792   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31048545  
PMID:31067453   PMID:31091453   PMID:31182584   PMID:31230722   PMID:31239290   PMID:31298480   PMID:31343991   PMID:31353912   PMID:31586073   PMID:31665637   PMID:31822558   PMID:32051553  
PMID:32066831   PMID:32129710   PMID:32151945   PMID:32160526   PMID:32333430   PMID:32416067   PMID:32694621   PMID:32807901   PMID:32851396   PMID:32873692   PMID:32939785   PMID:33103729  
PMID:33106477   PMID:33306668   PMID:33495376   PMID:33536335   PMID:33545068   PMID:33567341   PMID:33644029   PMID:33658012   PMID:33666721   PMID:33711283   PMID:33731348   PMID:33745133  
PMID:33916271   PMID:33940977   PMID:33961781   PMID:33969391   PMID:34079125   PMID:34237211   PMID:34537679   PMID:35140242   PMID:35241646   PMID:35253629   PMID:35271311   PMID:35509820  
PMID:35831314  


Genomics

Comparative Map Data
RFC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38439,287,456 - 39,366,362 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl439,287,456 - 39,366,375 (-)EnsemblGRCh38hg38GRCh38
GRCh37439,289,076 - 39,367,982 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36438,965,471 - 39,044,390 (-)NCBINCBI36Build 36hg18NCBI36
Build 34439,111,641 - 39,190,561NCBI
Celera439,726,898 - 39,805,822 (-)NCBICelera
Cytogenetic Map4p14NCBI
HuRef438,614,348 - 38,693,267 (-)NCBIHuRef
CHM1_1439,288,683 - 39,367,619 (-)NCBICHM1_1
T2T-CHM13v2.0439,257,079 - 39,336,004 (-)NCBIT2T-CHM13v2.0
Rfc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39565,419,195 - 65,495,960 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl565,419,193 - 65,493,013 (-)EnsemblGRCm39 Ensembl
GRCm38565,261,852 - 65,338,617 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl565,261,850 - 65,335,670 (-)EnsemblGRCm38mm10GRCm38
MGSCv37565,653,091 - 65,726,878 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36565,540,993 - 65,614,740 (-)NCBIMGSCv36mm8
Celera562,539,065 - 62,612,753 (-)NCBICelera
Cytogenetic Map5C3.1NCBI
cM Map533.61NCBI
Rfc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21442,966,279 - 43,041,372 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1442,966,324 - 43,041,370 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1443,320,456 - 43,395,313 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01444,620,383 - 44,695,254 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01443,100,518 - 43,175,387 (+)NCBIRnor_WKY
Rnor_6.01444,627,528 - 44,702,205 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1444,580,216 - 44,702,203 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01444,441,565 - 44,516,385 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41445,665,717 - 45,741,391 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11445,668,107 - 45,730,578 (+)NCBI
Celera1442,109,684 - 42,184,882 (+)NCBICelera
Cytogenetic Map14p11NCBI
Rfc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554437,983,840 - 8,051,089 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554437,969,117 - 8,051,734 (+)NCBIChiLan1.0ChiLan1.0
RFC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1439,471,719 - 39,548,548 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl439,471,719 - 39,548,548 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0433,618,590 - 33,695,999 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
RFC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1373,062,292 - 73,136,576 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl373,062,329 - 73,135,096 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha375,609,032 - 75,683,153 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0373,835,991 - 73,910,047 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl373,836,047 - 73,910,037 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1373,102,007 - 73,176,125 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0373,248,932 - 73,323,088 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0373,635,081 - 73,709,119 (+)NCBIUU_Cfam_GSD_1.0
Rfc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528539,288,988 - 39,362,991 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364826,938,138 - 7,009,144 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RFC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl830,552,400 - 30,635,867 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1830,552,369 - 30,635,932 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2832,169,923 - 32,250,884 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RFC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12710,936,445 - 11,013,457 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2710,936,461 - 11,006,679 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604757,331,286 - 57,423,803 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rfc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248704,901,895 - 4,985,654 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248704,901,963 - 4,985,633 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
STS-Z22642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,289,984 - 39,290,115UniSTSGRCh37
Build 36438,966,379 - 38,966,510RGDNCBI36
Celera439,727,806 - 39,727,937RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,615,263 - 38,615,394UniSTS
GeneMap99-GB4 RH Map4178.83UniSTS
NCBI RH Map4494.6UniSTS
G62134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,289,263 - 39,289,398UniSTSGRCh37
Build 36438,965,658 - 38,965,793RGDNCBI36
Celera439,727,085 - 39,727,220RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,614,542 - 38,614,677UniSTS
D4S2578E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,290,206 - 39,290,418UniSTSGRCh37
Build 36438,966,601 - 38,966,813RGDNCBI36
Celera439,728,028 - 39,728,240RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,615,485 - 38,615,697UniSTS
G34472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,289,192 - 39,289,359UniSTSGRCh37
Build 36438,965,587 - 38,965,754RGDNCBI36
Celera439,727,014 - 39,727,181RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,614,471 - 38,614,638UniSTS
G67564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,318,479 - 39,318,758UniSTSGRCh37
Build 36438,994,874 - 38,995,153RGDNCBI36
Celera439,756,301 - 39,756,580RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,643,749 - 38,644,028UniSTS
G67567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,310,190 - 39,310,775UniSTSGRCh37
Build 36438,986,585 - 38,987,170RGDNCBI36
Celera439,748,012 - 39,748,597RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,635,469 - 38,636,054UniSTS
G67568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,308,116 - 39,308,386UniSTSGRCh37
Build 36438,984,511 - 38,984,781RGDNCBI36
Celera439,745,938 - 39,746,208RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,633,394 - 38,633,664UniSTS
G67569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,306,327 - 39,306,605UniSTSGRCh37
Build 36438,982,722 - 38,983,000RGDNCBI36
Celera439,744,149 - 39,744,427RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,631,603 - 38,631,881UniSTS
G67570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,304,045 - 39,304,337UniSTSGRCh37
Build 36438,980,440 - 38,980,732RGDNCBI36
Celera439,741,867 - 39,742,159RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,629,321 - 38,629,613UniSTS
G67571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,303,789 - 39,304,052UniSTSGRCh37
Build 36438,980,184 - 38,980,447RGDNCBI36
Celera439,741,611 - 39,741,874RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,629,065 - 38,629,328UniSTS
G67565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,301,758 - 39,302,109UniSTSGRCh37
Build 36438,978,153 - 38,978,504RGDNCBI36
Celera439,739,580 - 39,739,931RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,627,035 - 38,627,386UniSTS
G67566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,301,521 - 39,301,801UniSTSGRCh37
Build 36438,977,916 - 38,978,196RGDNCBI36
Celera439,739,343 - 39,739,623RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,626,798 - 38,627,078UniSTS
SHGC-67941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,288,855 - 39,289,001UniSTSGRCh37
Build 36438,965,250 - 38,965,396RGDNCBI36
Celera439,726,677 - 39,726,823RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,614,134 - 38,614,280UniSTS
GeneMap99-GB4 RH Map4187.56UniSTS
NCBI RH Map4499.7UniSTS
SHGC-67924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,289,080 - 39,289,222UniSTSGRCh37
Build 36438,965,475 - 38,965,617RGDNCBI36
Celera439,726,902 - 39,727,044RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,614,359 - 38,614,501UniSTS
GeneMap99-GB4 RH Map4178.83UniSTS
NCBI RH Map4494.6UniSTS
D4S335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,295,681 - 39,295,963UniSTSGRCh37
Build 36438,972,076 - 38,972,358RGDNCBI36
Celera439,733,503 - 39,733,785RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,620,962 - 38,621,244UniSTS
Whitehead-YAC Contig Map4 UniSTS
STS-L23320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,289,389 - 39,289,527UniSTSGRCh37
Build 36438,965,784 - 38,965,922RGDNCBI36
Celera439,727,211 - 39,727,349RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,614,668 - 38,614,806UniSTS
GeneMap99-GB4 RH Map4184.22UniSTS
SHGC-30256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,289,086 - 39,289,215UniSTSGRCh37
Build 36438,965,481 - 38,965,610RGDNCBI36
Celera439,726,908 - 39,727,037RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,614,365 - 38,614,494UniSTS
GeneMap99-GB4 RH Map4181.74UniSTS
Whitehead-RH Map4197.0UniSTS
NCBI RH Map4494.6UniSTS
D4S2821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,289,587 - 39,289,692UniSTSGRCh37
Build 36438,965,982 - 38,966,087RGDNCBI36
Celera439,727,409 - 39,727,514RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,614,866 - 38,614,971UniSTS
GeneMap99-GB4 RH Map4186.55UniSTS
Whitehead-RH Map4199.1UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-51647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,295,683 - 39,295,847UniSTSGRCh37
Build 36438,972,078 - 38,972,242RGDNCBI36
Celera439,733,505 - 39,733,669RGD
Cytogenetic Map4p14-p13UniSTS
HuRef438,620,964 - 38,621,128UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2585
Count of miRNA genes:1018
Interacting mature miRNAs:1224
Transcripts:ENST00000349703, ENST00000381897, ENST00000418436, ENST00000502706, ENST00000502991, ENST00000503784, ENST00000504554, ENST00000504849, ENST00000504974, ENST00000505077, ENST00000509084, ENST00000510783, ENST00000512275, ENST00000512726, ENST00000512881, ENST00000514572
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2220 1520 1528 450 1214 295 3621 1025 2331 338 1435 1600 171 1 1128 2062 6 2
Low 219 1464 198 174 730 170 736 1172 1403 81 25 13 4 76 726
Below cutoff 7 7

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001204747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007057951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC023135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF040250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ564999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY600371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA336360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L23320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L24783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000349703   ⟹   ENSP00000261424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,287,456 - 39,366,362 (-)Ensembl
RefSeq Acc Id: ENST00000381897   ⟹   ENSP00000371321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,287,456 - 39,366,375 (-)Ensembl
RefSeq Acc Id: ENST00000418436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,320,465 - 39,366,362 (-)Ensembl
RefSeq Acc Id: ENST00000502706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,306,634 - 39,312,772 (-)Ensembl
RefSeq Acc Id: ENST00000502991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,288,779 - 39,292,074 (-)Ensembl
RefSeq Acc Id: ENST00000503784   ⟹   ENSP00000422740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,327,608 - 39,366,349 (-)Ensembl
RefSeq Acc Id: ENST00000504554   ⟹   ENSP00000422129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,303,090 - 39,317,013 (-)Ensembl
RefSeq Acc Id: ENST00000504849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,323,203 - 39,366,335 (-)Ensembl
RefSeq Acc Id: ENST00000504974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,288,815 - 39,292,135 (-)Ensembl
RefSeq Acc Id: ENST00000505077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,300,316 - 39,303,193 (-)Ensembl
RefSeq Acc Id: ENST00000509084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,312,764 - 39,318,070 (-)Ensembl
RefSeq Acc Id: ENST00000510783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,288,697 - 39,295,899 (-)Ensembl
RefSeq Acc Id: ENST00000512275   ⟹   ENSP00000422475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,327,524 - 39,366,339 (-)Ensembl
RefSeq Acc Id: ENST00000512726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,320,460 - 39,321,828 (-)Ensembl
RefSeq Acc Id: ENST00000512881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,316,983 - 39,322,404 (-)Ensembl
RefSeq Acc Id: ENST00000514572   ⟹   ENSP00000424713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,289,556 - 39,291,738 (-)Ensembl
RefSeq Acc Id: ENST00000639695   ⟹   ENSP00000491208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl439,316,910 - 39,327,757 (-)Ensembl
RefSeq Acc Id: NM_001204747   ⟹   NP_001191676
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,287,456 - 39,366,362 (-)NCBI
GRCh37439,289,069 - 39,368,001 (-)ENTREZGENE
HuRef438,614,348 - 38,693,267 (-)ENTREZGENE
CHM1_1439,288,683 - 39,367,619 (-)NCBI
T2T-CHM13v2.0439,257,079 - 39,336,004 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363495   ⟹   NP_001350424
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,287,456 - 39,366,362 (-)NCBI
T2T-CHM13v2.0439,257,079 - 39,336,004 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363496   ⟹   NP_001350425
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,287,456 - 39,366,362 (-)NCBI
T2T-CHM13v2.0439,257,079 - 39,336,004 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002913   ⟹   NP_002904
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,287,456 - 39,366,362 (-)NCBI
GRCh37439,289,069 - 39,368,001 (-)NCBI
Build 36438,965,471 - 39,044,390 (-)NCBI Archive
HuRef438,614,348 - 38,693,267 (-)ENTREZGENE
CHM1_1439,288,683 - 39,367,619 (-)NCBI
T2T-CHM13v2.0439,257,079 - 39,336,004 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513731   ⟹   XP_011512033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,287,456 - 39,366,362 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047416054   ⟹   XP_047272010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,287,456 - 39,366,362 (-)NCBI
RefSeq Acc Id: XR_007057951
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,303,060 - 39,366,362 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_002904   ⟸   NM_002913
- Peptide Label: isoform 1
- UniProtKB: P35251 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001191676   ⟸   NM_001204747
- Peptide Label: isoform 2
- UniProtKB: Q86V46 (UniProtKB/Swiss-Prot),   P35251 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011512033   ⟸   XM_011513731
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001350424   ⟸   NM_001363495
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001350425   ⟸   NM_001363496
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000422740   ⟸   ENST00000503784
RefSeq Acc Id: ENSP00000422129   ⟸   ENST00000504554
RefSeq Acc Id: ENSP00000261424   ⟸   ENST00000349703
RefSeq Acc Id: ENSP00000491208   ⟸   ENST00000639695
RefSeq Acc Id: ENSP00000422475   ⟸   ENST00000512275
RefSeq Acc Id: ENSP00000371321   ⟸   ENST00000381897
RefSeq Acc Id: ENSP00000424713   ⟸   ENST00000514572
RefSeq Acc Id: XP_047272010   ⟸   XM_047416054
- Peptide Label: isoform X2
Protein Domains
BRCT   RFC1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P35251-F1-model_v2 AlphaFold P35251 1-1148 view protein structure

Promoters
RGD ID:6802562
Promoter ID:HG_KWN:48077
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000381897,   NM_002913,   UC003GTZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36439,044,139 - 39,044,639 (-)MPROMDB
RGD ID:6867248
Promoter ID:EPDNEW_H6789
Type:initiation region
Name:RFC1_1
Description:replication factor C subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6790  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,366,362 - 39,366,422EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001204747.1(RFC1):c.2387C>T (p.Pro796Leu) single nucleotide variant Malignant melanoma [RCV000060986] Chr4:39302552 [GRCh38]
Chr4:39304172 [GRCh37]
Chr4:38980567 [NCBI36]
Chr4:4p14
not provided
NM_002913.5(RFC1):c.398A>G (p.Asn133Ser) single nucleotide variant Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV001331820] Chr4:39327690 [GRCh38]
Chr4:39329310 [GRCh37]
Chr4:4p14
uncertain significance
NC_000004.12:g.39348425AAGGG[(400_2000)] microsatellite Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV001293653]   pathogenic
NM_001204747.1:c.132+2923_2927AAAGG[(40_1000)] microsatellite Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV001290718]   benign
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p14(chr4:39222108-39491610)x3 copy number gain See cases [RCV000141574] Chr4:39222108..39491610 [GRCh38]
Chr4:39223728..39493230 [GRCh37]
Chr4:38900123..39169625 [NCBI36]
Chr4:4p14
benign
GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3 copy number gain See cases [RCV000240190] Chr4:38532827..49064044 [GRCh37]
Chr4:4p14-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_002913.5(RFC1):c.2011T>A (p.Tyr671Asn) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374549] Chr4:39304913 [GRCh38]
Chr4:39306533 [GRCh37]
Chr4:4p14
uncertain significance
GRCh37/hg19 4p14(chr4:38723586-39382859)x3 copy number gain See cases [RCV000447130] Chr4:38723586..39382859 [GRCh37]
Chr4:4p14
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p14(chr4:38717326-39382906)x3 copy number gain See cases [RCV000448728] Chr4:38717326..39382906 [GRCh37]
Chr4:4p14
uncertain significance
GRCh37/hg19 4p14(chr4:38717408-39382906)x3 copy number gain See cases [RCV000448275] Chr4:38717408..39382906 [GRCh37]
Chr4:4p14
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p14(chr4:38723586-39382906)x3 copy number gain not provided [RCV000682395] Chr4:38723586..39382906 [GRCh37]
Chr4:4p14
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
NC_000004.11:g.39350045_39350099delinsAAGGG[(400_2000)] indel Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV000767882] Chr4:39350045..39350099 [GRCh37]
Chr4:4p14
pathogenic
NC_000004.11:g.39350045_39350099delinsAAAGG[(400_2000)] indel Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV000767883] Chr4:39350045..39350099 [GRCh37]
Chr4:4p14
pathogenic
NC_000004.12:g.39348425AARRG[(400_2000)] microsatellite Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV000767848] Chr4:4p14 pathogenic
NM_002913.5(RFC1):c.2073G>C (p.Glu691Asp) single nucleotide variant not provided [RCV000966907] Chr4:39304851 [GRCh38]
Chr4:39306471 [GRCh37]
Chr4:4p14
benign
NM_002913.5(RFC1):c.2860C>A (p.Gln954Lys) single nucleotide variant not provided [RCV000910098] Chr4:39295708 [GRCh38]
Chr4:39297328 [GRCh37]
Chr4:4p14
benign
GRCh37/hg19 4p14(chr4:39286836-39370055)x1 copy number loss not provided [RCV001005535] Chr4:39286836..39370055 [GRCh37]
Chr4:4p14
uncertain significance
GRCh37/hg19 4p14(chr4:39037273-39348230)x3 copy number gain not provided [RCV001005534] Chr4:39037273..39348230 [GRCh37]
Chr4:4p14
uncertain significance
NM_002913.5(RFC1):c.3363A>G (p.Lys1121=) single nucleotide variant not provided [RCV000888224] Chr4:39288842 [GRCh38]
Chr4:39290462 [GRCh37]
Chr4:4p14
benign
NM_002913.5(RFC1):c.1792A>G (p.Ile598Val) single nucleotide variant not provided [RCV000894321] Chr4:39308729 [GRCh38]
Chr4:39310349 [GRCh37]
Chr4:4p14
benign
NM_002913.5(RFC1):c.1052C>T (p.Thr351Ile) single nucleotide variant not provided [RCV000912007] Chr4:39320426 [GRCh38]
Chr4:39322046 [GRCh37]
Chr4:4p14
likely benign
NM_002913.5(RFC1):c.1267C>A (p.Arg423=) single nucleotide variant not provided [RCV000912186] Chr4:39312868 [GRCh38]
Chr4:39314488 [GRCh37]
Chr4:4p14
likely benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
NC_000004.12:g.39348425AAAGG[10_25]AAGGG[n] microsatellite Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV001267634] Chr4:39348425 [GRCh38]
Chr4:4p14
pathogenic
NM_001204747.1:c.132+2923_2927AAGGG[(400_2000)] microsatellite Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV001290720]   pathogenic
GRCh37/hg19 4p14(chr4:39116340-40293329)x3 copy number gain not provided [RCV001259839] Chr4:39116340..40293329 [GRCh37]
Chr4:4p14
uncertain significance
NM_002913.5(RFC1):c.132+2923= microsatellite Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV001290716] Chr4:39348425..39348479 [GRCh38]
Chr4:39350045..39350099 [GRCh37]
Chr4:4p14
benign
NM_001204747.1:c.132+2923_2927AAAAG[(12_200)] microsatellite Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV001290717]   benign
NM_002913.5(RFC1):c.2248A>G (p.Met750Val) single nucleotide variant not provided [RCV001356711] Chr4:39302829 [GRCh38]
Chr4:39304449 [GRCh37]
Chr4:4p14
uncertain significance
NM_001204747.1:c.132+2923_2927ACAGG[(400_2000)] microsatellite Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV001290719]   uncertain significance
NM_002913.5(RFC1):c.53G>A (p.Ser18Asn) single nucleotide variant not provided [RCV001727287] Chr4:39351427 [GRCh38]
Chr4:39353047 [GRCh37]
Chr4:4p14
likely benign
GRCh37/hg19 4p14(chr4:39205299-39489677)x3 copy number gain not provided [RCV001834225] Chr4:39205299..39489677 [GRCh37]
Chr4:4p14
uncertain significance
NM_002913.5(RFC1):c.2808+36C>G single nucleotide variant Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV001794895] Chr4:39299985 [GRCh38]
Chr4:39301605 [GRCh37]
Chr4:4p14
benign
NM_002913.5(RFC1):c.2541A>G (p.Pro847=) single nucleotide variant Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV001794896] Chr4:39300409 [GRCh38]
Chr4:39302029 [GRCh37]
Chr4:4p14
benign
NM_002913.5(RFC1):c.331+25G>T single nucleotide variant Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV001794897] Chr4:39342320 [GRCh38]
Chr4:39343940 [GRCh37]
Chr4:4p14
benign
NM_002913.5(RFC1):c.4-26G>A single nucleotide variant Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV001794898] Chr4:39351502 [GRCh38]
Chr4:39353122 [GRCh37]
Chr4:4p14
benign
(AAGGG)exp microsatellite Parkinson disease, late-onset [RCV001807848] Chr4:39348425..39349149 [GRCh38]
Chr4:4p14
pathogenic
GRCh37/hg19 4p14(chr4:38717326-39382906) copy number gain not specified [RCV002053412] Chr4:38717326..39382906 [GRCh37]
Chr4:4p14
uncertain significance
NC_000004.11:g.(?_38765721)_(41750627_?)dup duplication T-cell immunodeficiency with epidermodysplasia verruciformis [RCV001920476] Chr4:38765721..41750627 [GRCh37]
Chr4:4p14-13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9969 AgrOrtholog
COSMIC RFC1 COSMIC
Ensembl Genes ENSG00000035928 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261424 ENTREZGENE
  ENSP00000261424.4 UniProtKB/Swiss-Prot
  ENSP00000371321 ENTREZGENE
  ENSP00000371321.1 UniProtKB/Swiss-Prot
  ENSP00000422129.1 UniProtKB/TrEMBL
  ENSP00000422475.1 UniProtKB/TrEMBL
  ENSP00000422740.1 UniProtKB/TrEMBL
  ENSP00000424713.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000349703 ENTREZGENE
  ENST00000349703.7 UniProtKB/Swiss-Prot
  ENST00000381897 ENTREZGENE
  ENST00000381897.5 UniProtKB/Swiss-Prot
  ENST00000503784.1 UniProtKB/TrEMBL
  ENST00000504554.1 UniProtKB/TrEMBL
  ENST00000512275.5 UniProtKB/TrEMBL
  ENST00000514572.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000035928 GTEx
HGNC ID HGNC:9969 ENTREZGENE
Human Proteome Map RFC1 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot
  ATPase_AAA_core UniProtKB/Swiss-Prot
  BRCT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRCT_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol3_clamp-load_cplx_C UniProtKB/Swiss-Prot
  DNA_replication_fac_RFC1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RFC1 UniProtKB/Swiss-Prot
KEGG Report hsa:5981 UniProtKB/Swiss-Prot
NCBI Gene 5981 ENTREZGENE
OMIM 102579 OMIM
  614575 OMIM
Pfam AAA UniProtKB/Swiss-Prot
  BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RFC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34338 PharmGKB, RGD
PIRSF RFC1 UniProtKB/Swiss-Prot
PROSITE BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot
  BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48019 UniProtKB/Swiss-Prot
  SSF52113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot
UniProt D6RAD2_HUMAN UniProtKB/TrEMBL
  E0CX09_HUMAN UniProtKB/TrEMBL
  H0Y8U4_HUMAN UniProtKB/TrEMBL
  H0Y9P8_HUMAN UniProtKB/TrEMBL
  P35251 ENTREZGENE
  Q86V46 ENTREZGENE
  RFC1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K6E7 UniProtKB/Swiss-Prot
  Q5XKF5 UniProtKB/Swiss-Prot
  Q6PKU0 UniProtKB/Swiss-Prot
  Q86V41 UniProtKB/Swiss-Prot
  Q86V46 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 RFC1  replication factor C subunit 1    replication factor C (activator 1) 1, 145kDa  Symbol and/or name change 5135510 APPROVED