RCC1 (regulator of chromosome condensation 1) - Rat Genome Database

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Gene: RCC1 (regulator of chromosome condensation 1) Homo sapiens
Analyze
Symbol: RCC1
Name: regulator of chromosome condensation 1
RGD ID: 1343250
HGNC Page HGNC:1913
Description: Enables several functions, including guanyl-nucleotide exchange factor activity; nucleosomal DNA binding activity; and protein heterodimerization activity. Involved in G1/S transition of mitotic cell cycle; regulation of mitotic nuclear division; and spindle organization. Located in chromatin; cytoplasm; and nuclear lumen. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cell cycle regulatory protein; CHC1; chromosome condensation 1; chromosome condensation protein 1; guanine nucleotide-releasing protein; RCC1-I; regulator of chromosome condensation; SNHG3-RCC1; SNHG3-RCC1 readthrough; SNHG3-RCC1 readthrough transcript
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38128,506,043 - 28,538,989 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl128,505,943 - 28,539,300 (+)EnsemblGRCh38hg38GRCh38
GRCh37128,832,555 - 28,865,501 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36128,717,332 - 28,738,194 (+)NCBINCBI36Build 36hg18NCBI36
Build 34128,653,183 - 28,686,118NCBI
Celera127,228,232 - 27,261,474 (+)NCBICelera
Cytogenetic Map1p35.3NCBI
HuRef127,086,264 - 27,119,463 (+)NCBIHuRef
CHM1_1128,947,946 - 28,981,201 (+)NCBICHM1_1
T2T-CHM13v2.0128,347,999 - 28,380,949 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
2-methylcholine  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
5-fluorouracil  (EXP)
acrolein  (EXP)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
AM-251  (EXP)
amphetamine  (ISO)
Aroclor 1254  (ISO)
arsenite(3-)  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP)
Brodifacoum  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
deoxynivalenol  (ISO)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
methapyrilene  (EXP)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
Nutlin-3  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP)
perfluorooctanoic acid  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
rotenone  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
tacrolimus hydrate  (ISO)
tamibarotene  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IDA)
chromosome  (IEA,TAS)
condensed nuclear chromosome  (IDA)
cytoplasm  (IBA,IDA,IEA)
nucleoplasm  (IDA,TAS)
nucleus  (HDA,IDA,IEA)
protein-containing complex  (IDA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1769659   PMID:1944575   PMID:1961752   PMID:2236072   PMID:2677018   PMID:3678831   PMID:7616957   PMID:7851910   PMID:7882974   PMID:7891706   PMID:7983178   PMID:7988569  
PMID:8896453   PMID:9510255   PMID:9637251   PMID:10089422   PMID:10369786   PMID:10744690   PMID:10811801   PMID:10811825   PMID:10827954   PMID:10875935   PMID:11310559   PMID:11336674  
PMID:11375490   PMID:11932251   PMID:12062430   PMID:12121620   PMID:12194828   PMID:12477932   PMID:14565978   PMID:15014043   PMID:15302935   PMID:15489334   PMID:15635413   PMID:16052169  
PMID:16407974   PMID:16820410   PMID:16964243   PMID:17081983   PMID:17158748   PMID:17251553   PMID:17435751   PMID:17855385   PMID:18029348   PMID:18439570   PMID:18442486   PMID:18568422  
PMID:18617507   PMID:18712773   PMID:18762580   PMID:18850631   PMID:19060893   PMID:19738201   PMID:20347844   PMID:20565941   PMID:20668449   PMID:20739938   PMID:21630459   PMID:21873635  
PMID:21900206   PMID:21907836   PMID:22199357   PMID:22215983   PMID:22623428   PMID:22658674   PMID:22939629   PMID:22944692   PMID:23536659   PMID:23752268   PMID:24457600   PMID:24711643  
PMID:24981860   PMID:25348717   PMID:25452301   PMID:25609649   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26752685   PMID:26760575   PMID:26777405   PMID:26823742   PMID:26864624  
PMID:26871637   PMID:26972000   PMID:27182664   PMID:27248496   PMID:27503909   PMID:27609421   PMID:27634302   PMID:27880917   PMID:27926873   PMID:28192407   PMID:28242625   PMID:28284242  
PMID:28302793   PMID:28514442   PMID:29040603   PMID:29042532   PMID:29117863   PMID:29128334   PMID:29229926   PMID:29363114   PMID:29459360   PMID:29464982   PMID:29467282   PMID:29509190  
PMID:29789527   PMID:29955894   PMID:29997244   PMID:30021884   PMID:30110629   PMID:30196744   PMID:30554943   PMID:30575818   PMID:30804502   PMID:30833792   PMID:30862715   PMID:30884312  
PMID:30948266   PMID:31091453   PMID:31180492   PMID:31239290   PMID:31467278   PMID:31586073   PMID:31722399   PMID:31980649   PMID:31995728   PMID:32416067   PMID:32594833   PMID:32780723  
PMID:32786267   PMID:32941674   PMID:32994395   PMID:33022573   PMID:33539787   PMID:33630417   PMID:33660365   PMID:33742100   PMID:33957083   PMID:33961781   PMID:34189442   PMID:34356619  
PMID:34373451   PMID:34564892   PMID:34709727   PMID:34924821   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35446349   PMID:35546148   PMID:35563538   PMID:35575683   PMID:35831314  
PMID:35906200   PMID:35944360   PMID:35987950   PMID:36057605   PMID:36114006   PMID:36180891   PMID:36215168   PMID:36244648   PMID:36373674   PMID:36424410   PMID:36604567   PMID:36652389  
PMID:36688959   PMID:36736316   PMID:37071682   PMID:37232246   PMID:37398436   PMID:37433992   PMID:37499664   PMID:37616343   PMID:37747077   PMID:37827155   PMID:38087057   PMID:38280479  
PMID:38334954   PMID:38561375   PMID:38569033   PMID:38697112   PMID:39147351  


Genomics

Comparative Map Data
RCC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38128,506,043 - 28,538,989 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl128,505,943 - 28,539,300 (+)EnsemblGRCh38hg38GRCh38
GRCh37128,832,555 - 28,865,501 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36128,717,332 - 28,738,194 (+)NCBINCBI36Build 36hg18NCBI36
Build 34128,653,183 - 28,686,118NCBI
Celera127,228,232 - 27,261,474 (+)NCBICelera
Cytogenetic Map1p35.3NCBI
HuRef127,086,264 - 27,119,463 (+)NCBIHuRef
CHM1_1128,947,946 - 28,981,201 (+)NCBICHM1_1
T2T-CHM13v2.0128,347,999 - 28,380,949 (+)NCBIT2T-CHM13v2.0
Rcc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394132,059,230 - 132,073,061 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4132,059,230 - 132,080,916 (-)EnsemblGRCm39 Ensembl
GRCm384132,331,919 - 132,345,750 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4132,331,919 - 132,353,605 (-)EnsemblGRCm38mm10GRCm38
MGSCv374131,887,838 - 131,901,577 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364131,603,999 - 131,617,738 (-)NCBIMGSCv36mm8
Celera4130,492,831 - 130,506,571 (-)NCBICelera
Cytogenetic Map4D2.3NCBI
cM Map465.2NCBI
Rcc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85149,810,037 - 149,828,475 (-)NCBIGRCr8
mRatBN7.25144,526,025 - 144,544,445 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5144,526,025 - 144,544,577 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5147,226,563 - 147,244,220 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05148,996,458 - 149,014,116 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05148,984,701 - 149,002,345 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05150,508,840 - 150,531,062 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5150,509,040 - 150,525,254 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05154,176,026 - 154,193,188 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera5142,957,255 - 142,974,902 (-)NCBICelera
Cytogenetic Map5q36NCBI
Rcc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554527,612,784 - 7,643,275 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554527,612,784 - 7,643,275 (+)NCBIChiLan1.0ChiLan1.0
RCC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21198,307,052 - 198,329,284 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11197,426,225 - 197,448,484 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0127,784,488 - 27,806,728 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1128,819,422 - 28,841,266 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl128,820,815 - 28,841,773 (+)Ensemblpanpan1.1panPan2
RCC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1271,948,159 - 71,972,902 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl271,948,165 - 71,964,353 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha268,524,663 - 68,540,842 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0272,507,102 - 72,531,854 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl272,507,108 - 72,530,338 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1269,335,321 - 69,351,510 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0270,343,443 - 70,359,626 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0271,341,326 - 71,357,632 (-)NCBIUU_Cfam_GSD_1.0
Rcc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505846,804,062 - 46,822,132 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647412,635,175 - 12,647,231 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647412,635,175 - 12,646,907 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RCC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl685,546,024 - 85,565,866 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1685,540,766 - 85,565,869 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2679,351,068 - 79,378,340 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RCC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120104,256,895 - 104,279,948 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20104,257,877 - 104,278,458 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603312,221,461 - 12,246,700 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rcc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476412,326,738 - 12,362,213 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476412,316,976 - 12,360,673 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RCC1
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3 copy number gain See cases [RCV000051801] Chr1:26963045..32279045 [GRCh38]
Chr1:27289536..32744646 [GRCh37]
Chr1:27162123..32517233 [NCBI36]
Chr1:1p36.11-35.2
pathogenic
GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1 copy number loss See cases [RCV000135447] Chr1:28424867..33122854 [GRCh38]
Chr1:28751378..33588455 [GRCh37]
Chr1:28623965..33361042 [NCBI36]
Chr1:1p35.3-35.1
pathogenic
GRCh38/hg38 1p35.3(chr1:28298657-28634562)x1 copy number loss See cases [RCV000137656] Chr1:28298657..28634562 [GRCh38]
Chr1:28625168..28961074 [GRCh37]
Chr1:28497755..28833661 [NCBI36]
Chr1:1p35.3
uncertain significance
GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3 copy number gain See cases [RCV000137584] Chr1:27919199..28607226 [GRCh38]
Chr1:28245710..28933738 [GRCh37]
Chr1:28118297..28806325 [NCBI36]
Chr1:1p35.3
uncertain significance
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3 copy number gain See cases [RCV000240431] Chr1:28292253..28969539 [GRCh37]
Chr1:1p35.3
uncertain significance
GRCh37/hg19 1p35.3(chr1:28666901-28929761)x3 copy number gain See cases [RCV000448758] Chr1:28666901..28929761 [GRCh37]
Chr1:1p35.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001381865.2(RCC1):c.544G>A (p.Asp182Asn) single nucleotide variant not specified [RCV004322045] Chr1:28535263 [GRCh38]
Chr1:28861775 [GRCh37]
Chr1:1p35.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_001381865.2(RCC1):c.13C>A (p.Arg5Ser) single nucleotide variant not specified [RCV004303036] Chr1:28529879 [GRCh38]
Chr1:28856391 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.1054T>A (p.Cys352Ser) single nucleotide variant not specified [RCV004293936] Chr1:28536863 [GRCh38]
Chr1:28863375 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.1046C>T (p.Ser349Leu) single nucleotide variant not specified [RCV004282271] Chr1:28536855 [GRCh38]
Chr1:28863367 [GRCh37]
Chr1:1p35.3
uncertain significance
GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121) copy number gain not specified [RCV002052559] Chr1:27543877..32819121 [GRCh37]
Chr1:1p36.11-35.1
uncertain significance
GRCh37/hg19 1p35.3(chr1:28493687-29242679)x1 copy number loss not provided [RCV001836514] Chr1:28493687..29242679 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.1195C>T (p.Arg399Cys) single nucleotide variant See cases [RCV004593306] Chr1:28537936 [GRCh38]
Chr1:28864448 [GRCh37]
Chr1:1p35.3
pathogenic
NM_001381865.2(RCC1):c.938G>A (p.Gly313Glu) single nucleotide variant not specified [RCV004166764] Chr1:28536747 [GRCh38]
Chr1:28863259 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.446A>G (p.Asn149Ser) single nucleotide variant not specified [RCV004160658] Chr1:28535054 [GRCh38]
Chr1:28861566 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.13C>T (p.Arg5Cys) single nucleotide variant not specified [RCV004074083] Chr1:28529879 [GRCh38]
Chr1:28856391 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.130G>A (p.Asp44Asn) single nucleotide variant not specified [RCV004103268] Chr1:28531859 [GRCh38]
Chr1:28858371 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.834A>C (p.Glu278Asp) single nucleotide variant not specified [RCV004225177] Chr1:28536278 [GRCh38]
Chr1:28862790 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.73+667A>C single nucleotide variant not specified [RCV004237044] Chr1:28530606 [GRCh38]
Chr1:28857118 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.749A>G (p.Tyr250Cys) single nucleotide variant not specified [RCV004249745] Chr1:28535958 [GRCh38]
Chr1:28862470 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.306C>A (p.Asp102Glu) single nucleotide variant not specified [RCV004275466] Chr1:28532215 [GRCh38]
Chr1:28858727 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.824C>T (p.Pro275Leu) single nucleotide variant not specified [RCV004260408] Chr1:28536268 [GRCh38]
Chr1:28862780 [GRCh37]
Chr1:1p35.3
uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1
pathogenic
NM_001381865.2(RCC1):c.1147G>A (p.Glu383Lys) single nucleotide variant not specified [RCV004443606] Chr1:28537888 [GRCh38]
Chr1:28864400 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.1165G>A (p.Val389Met) single nucleotide variant not specified [RCV004443607] Chr1:28537906 [GRCh38]
Chr1:28864418 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.73+671G>A single nucleotide variant not specified [RCV004443609] Chr1:28530610 [GRCh38]
Chr1:28857122 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.418G>A (p.Val140Ile) single nucleotide variant not specified [RCV004443610] Chr1:28532327 [GRCh38]
Chr1:28858839 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.878C>T (p.Thr293Ile) single nucleotide variant not specified [RCV004443611] Chr1:28536322 [GRCh38]
Chr1:28862834 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.1146T>A (p.Asp382Glu) single nucleotide variant not specified [RCV004443605] Chr1:28537887 [GRCh38]
Chr1:28864399 [GRCh37]
Chr1:1p35.3
likely benign
NM_001381865.2(RCC1):c.330G>C (p.Met110Ile) single nucleotide variant See cases [RCV004593303] Chr1:28532239 [GRCh38]
Chr1:28858751 [GRCh37]
Chr1:1p35.3
likely pathogenic
NM_001381865.2(RCC1):c.238G>A (p.Val80Met) single nucleotide variant See cases [RCV004593301] Chr1:28531967 [GRCh38]
Chr1:28858479 [GRCh37]
Chr1:1p35.3
likely pathogenic
NM_001381865.2(RCC1):c.280A>G (p.Asn94Asp) single nucleotide variant See cases [RCV004593302] Chr1:28532189 [GRCh38]
Chr1:28858701 [GRCh37]
Chr1:1p35.3
likely pathogenic
NM_001381865.2(RCC1):c.416G>A (p.Arg139His) single nucleotide variant See cases [RCV004593304] Chr1:28532325 [GRCh38]
Chr1:28858837 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.604G>A (p.Gly202Ser) single nucleotide variant See cases [RCV004593305] Chr1:28535323 [GRCh38]
Chr1:28861835 [GRCh37]
Chr1:1p35.3
likely pathogenic
NM_001381865.2(RCC1):c.127G>A (p.Gly43Ser) single nucleotide variant See cases [RCV004593300] Chr1:28531856 [GRCh38]
Chr1:28858368 [GRCh37]
Chr1:1p35.3
pathogenic
NM_001381865.2(RCC1):c.73+661C>A single nucleotide variant not specified [RCV004657970] Chr1:28530600 [GRCh38]
Chr1:28857112 [GRCh37]
Chr1:1p35.3
uncertain significance
NM_001381865.2(RCC1):c.14G>A (p.Arg5His) single nucleotide variant not specified [RCV004657971] Chr1:28529880 [GRCh38]
Chr1:28856392 [GRCh37]
Chr1:1p35.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3961
Count of miRNA genes:1013
Interacting mature miRNAs:1240
Transcripts:ENST00000373831, ENST00000373832, ENST00000373833, ENST00000398958, ENST00000411533, ENST00000419074, ENST00000427469, ENST00000429051, ENST00000430407, ENST00000434290, ENST00000478232, ENST00000486790
Prediction methods:Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
406919559GWAS568535_Hsystolic blood pressure QTL GWAS568535 (human)3e-10systolic blood pressuresystolic blood pressure (CMO:0000004)12851093128510932Human
407418208GWAS1067184_Hpulse pressure measurement QTL GWAS1067184 (human)6e-14pulse pressure measurementpulse pressure (CMO:0000292)12851168628511687Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
407397045GWAS1046021_Hsystolic blood pressure QTL GWAS1046021 (human)2e-11systolic blood pressuresystolic blood pressure (CMO:0000004)12851168628511687Human
406964239GWAS613215_HCOVID-19 QTL GWAS613215 (human)0.0000006COVID-1912851106328511064Human
406967103GWAS616079_Hnighttime rest measurement QTL GWAS616079 (human)0.000002nighttime rest measurement12851442828514429Human

Markers in Region
D1S3211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,864,710 - 28,864,911UniSTSGRCh37
Build 36128,737,297 - 28,737,498RGDNCBI36
Celera127,260,476 - 27,260,677RGD
Cytogenetic Map1p36.1UniSTS
HuRef127,118,465 - 27,118,666UniSTS
RH103048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,865,517 - 28,865,648UniSTSGRCh37
Build 36128,738,104 - 28,738,235RGDNCBI36
Celera127,261,283 - 27,261,414RGD
Cytogenetic Map1p36.1UniSTS
HuRef127,119,272 - 27,119,403UniSTS
GeneMap99-GB4 RH Map195.57UniSTS
SHGC-74505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,833,773 - 28,833,884UniSTSGRCh37
Build 36128,706,360 - 28,706,471RGDNCBI36
Celera127,229,550 - 27,229,661RGD
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p36.1UniSTS
HuRef127,087,582 - 27,087,693UniSTS
TNG Radiation Hybrid Map113442.0UniSTS
GeneMap99-GB4 RH Map195.4UniSTS
NCBI RH Map1165.8UniSTS
G67872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,861,574 - 28,861,811UniSTSGRCh37
Build 36128,734,161 - 28,734,398RGDNCBI36
Celera127,257,340 - 27,257,577RGD
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p36.1UniSTS
HuRef127,115,329 - 27,115,566UniSTS
A009U10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,835,935 - 28,836,070UniSTSGRCh37
GRCh371541,606,481 - 41,607,968UniSTSGRCh37
Build 36128,708,522 - 28,708,657RGDNCBI36
Celera1518,374,458 - 18,375,945UniSTS
Celera127,231,712 - 27,231,847RGD
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map15q15.1UniSTS
HuRef127,089,744 - 27,089,879UniSTS
GeneMap99-GB4 RH Map195.57UniSTS
NCBI RH Map1142.5UniSTS
SHGC-56851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,865,559 - 28,865,655UniSTSGRCh37
Build 36128,738,146 - 28,738,242RGDNCBI36
Celera127,261,325 - 27,261,421RGD
Cytogenetic Map1p36.1UniSTS
HuRef127,119,314 - 27,119,410UniSTS
SHGC-32496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,837,247 - 28,837,372UniSTSGRCh37
Build 36128,709,834 - 28,709,959RGDNCBI36
Celera127,233,024 - 27,233,149RGD
Cytogenetic Map1p36.1UniSTS
HuRef127,091,056 - 27,091,181UniSTS
Whitehead-RH Map194.5UniSTS
GeneMap99-G3 RH Map11780.0UniSTS
RH68391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,837,195 - 28,837,372UniSTSGRCh37
Build 36128,709,782 - 28,709,959RGDNCBI36
Celera127,232,972 - 27,233,149RGD
Cytogenetic Map1p36.1UniSTS
HuRef127,091,004 - 27,091,181UniSTS
GeneMap99-GB4 RH Map195.57UniSTS
SHGC-36606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,865,364 - 28,865,468UniSTSGRCh37
Build 36128,737,951 - 28,738,055RGDNCBI36
Celera127,261,130 - 27,261,234RGD
Cytogenetic Map1p36.1UniSTS
HuRef127,119,119 - 27,119,223UniSTS
G34830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,865,269 - 28,865,404UniSTSGRCh37
Build 36128,737,856 - 28,737,991RGDNCBI36
Celera127,261,035 - 27,261,170RGD
Cytogenetic Map1p36.1UniSTS
HuRef127,119,024 - 27,119,159UniSTS
PRDX3-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710120,931,911 - 120,933,385UniSTSGRCh37
GRCh37128,852,888 - 28,853,111UniSTSGRCh37
Celera10114,661,490 - 114,662,964UniSTS
Celera127,248,665 - 27,248,888UniSTS
HuRef127,106,697 - 27,106,920UniSTS
HuRef10114,561,343 - 114,562,817UniSTS
G32835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,835,935 - 28,836,070UniSTSGRCh37
Celera127,231,712 - 27,231,847UniSTS
Cytogenetic Map1p36.1UniSTS
HuRef127,089,744 - 27,089,879UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2252 4973 1726 2351 6 624 1951 465 2269 7304 6471 53 3734 1 852 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001048194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001048195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001048199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001381865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001381866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF498924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI198971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF590413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF667678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM546148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ436549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU501614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU622451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX109495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB985055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV811053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000373831   ⟹   ENSP00000362937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,518,257 - 28,538,164 (+)Ensembl
Ensembl Acc Id: ENST00000373832   ⟹   ENSP00000362938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,518,136 - 28,538,983 (+)Ensembl
Ensembl Acc Id: ENST00000373833   ⟹   ENSP00000362939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,506,057 - 28,539,300 (+)Ensembl
Ensembl Acc Id: ENST00000398958   ⟹   ENSP00000381931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,505,943 - 28,539,196 (+)Ensembl
Ensembl Acc Id: ENST00000411533   ⟹   ENSP00000413644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,518,266 - 28,536,875 (+)Ensembl
Ensembl Acc Id: ENST00000419074   ⟹   ENSP00000402260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,510,077 - 28,536,026 (+)Ensembl
Ensembl Acc Id: ENST00000427469   ⟹   ENSP00000402740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,505,990 - 28,535,899 (+)Ensembl
Ensembl Acc Id: ENST00000429051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,531,935 - 28,535,905 (+)Ensembl
Ensembl Acc Id: ENST00000430407   ⟹   ENSP00000394650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,518,695 - 28,536,293 (+)Ensembl
Ensembl Acc Id: ENST00000434290   ⟹   ENSP00000405258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,506,056 - 28,535,919 (+)Ensembl
Ensembl Acc Id: ENST00000478232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,536,093 - 28,537,898 (+)Ensembl
Ensembl Acc Id: ENST00000486790   ⟹   ENSP00000472057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,518,626 - 28,531,818 (+)Ensembl
Ensembl Acc Id: ENST00000649185   ⟹   ENSP00000497402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,505,980 - 28,538,968 (+)Ensembl
Ensembl Acc Id: ENST00000683442   ⟹   ENSP00000508074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,506,043 - 28,538,989 (+)Ensembl
RefSeq Acc Id: NM_001048194   ⟹   NP_001041659
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,518,226 - 28,538,989 (+)NCBI
GRCh37128,832,455 - 28,865,708 (+)ENTREZGENE
Build 36128,717,332 - 28,738,194 (+)NCBI Archive
HuRef127,086,264 - 27,119,463 (+)ENTREZGENE
CHM1_1128,960,278 - 28,981,201 (+)NCBI
T2T-CHM13v2.0128,360,182 - 28,380,949 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001048195   ⟹   NP_001041660
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,518,226 - 28,538,989 (+)NCBI
GRCh37128,832,455 - 28,865,708 (+)ENTREZGENE
Build 36128,717,332 - 28,738,194 (+)NCBI Archive
HuRef127,086,264 - 27,119,463 (+)ENTREZGENE
CHM1_1128,960,278 - 28,981,201 (+)NCBI
T2T-CHM13v2.0128,360,182 - 28,380,949 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001048199   ⟹   NP_001041664
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,506,043 - 28,538,989 (+)NCBI
GRCh37128,832,455 - 28,865,708 (+)NCBI
HuRef127,086,264 - 27,119,463 (+)NCBI
CHM1_1128,947,946 - 28,981,201 (+)NCBI
T2T-CHM13v2.0128,347,999 - 28,380,949 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001269   ⟹   NP_001260
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,518,226 - 28,538,989 (+)NCBI
GRCh37128,832,455 - 28,865,708 (+)ENTREZGENE
Build 36128,717,332 - 28,738,194 (+)NCBI Archive
HuRef127,086,264 - 27,119,463 (+)ENTREZGENE
CHM1_1128,960,278 - 28,981,201 (+)NCBI
T2T-CHM13v2.0128,360,182 - 28,380,949 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001381865   ⟹   NP_001368794
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,506,043 - 28,538,989 (+)NCBI
T2T-CHM13v2.0128,347,999 - 28,380,949 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001381866   ⟹   NP_001368795
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,506,043 - 28,538,989 (+)NCBI
T2T-CHM13v2.0128,347,999 - 28,380,949 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001041659 (Get FASTA)   NCBI Sequence Viewer  
  NP_001041660 (Get FASTA)   NCBI Sequence Viewer  
  NP_001041664 (Get FASTA)   NCBI Sequence Viewer  
  NP_001260 (Get FASTA)   NCBI Sequence Viewer  
  NP_001368794 (Get FASTA)   NCBI Sequence Viewer  
  NP_001368795 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB32653 (Get FASTA)   NCBI Sequence Viewer  
  AAH10067 (Get FASTA)   NCBI Sequence Viewer  
  AAH69198 (Get FASTA)   NCBI Sequence Viewer  
  AAM21072 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33432 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33433 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33434 (Get FASTA)   NCBI Sequence Viewer  
  BAA00469 (Get FASTA)   NCBI Sequence Viewer  
  CAA31182 (Get FASTA)   NCBI Sequence Viewer  
  CAG28621 (Get FASTA)   NCBI Sequence Viewer  
  EAX07690 (Get FASTA)   NCBI Sequence Viewer  
  EAX07691 (Get FASTA)   NCBI Sequence Viewer  
  EAX07692 (Get FASTA)   NCBI Sequence Viewer  
  EAX07693 (Get FASTA)   NCBI Sequence Viewer  
  EAX07694 (Get FASTA)   NCBI Sequence Viewer  
  EAX07695 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000362937
  ENSP00000362937.3
  ENSP00000362938
  ENSP00000362938.1
  ENSP00000362939
  ENSP00000362939.5
  ENSP00000381931
  ENSP00000381931.2
  ENSP00000394650.1
  ENSP00000402260.1
  ENSP00000402740.1
  ENSP00000405258.2
  ENSP00000413644
  ENSP00000413644.1
  ENSP00000472057.1
  ENSP00000497402.1
  ENSP00000508074
  ENSP00000508074.1
GenBank Protein P18754 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001041659   ⟸   NM_001048194
- Peptide Label: isoform a
- UniProtKB: A0A0S2Z404 (UniProtKB/TrEMBL),   C9JW69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001041660   ⟸   NM_001048195
- Peptide Label: isoform b
- UniProtKB: A0A0S2Z3I4 (UniProtKB/TrEMBL),   C9JW69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001260   ⟸   NM_001269
- Peptide Label: isoform c
- UniProtKB: Q16269 (UniProtKB/Swiss-Prot),   Q6NT97 (UniProtKB/Swiss-Prot),   P18754 (UniProtKB/Swiss-Prot),   Q5T081 (UniProtKB/TrEMBL),   A0A0S2Z3J1 (UniProtKB/TrEMBL),   C9JW69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001041664   ⟸   NM_001048199
- Peptide Label: isoform c
- UniProtKB: Q16269 (UniProtKB/Swiss-Prot),   Q6NT97 (UniProtKB/Swiss-Prot),   P18754 (UniProtKB/Swiss-Prot),   Q5T081 (UniProtKB/TrEMBL),   A0A0S2Z3J1 (UniProtKB/TrEMBL),   C9JW69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001368794   ⟸   NM_001381865
- Peptide Label: isoform c
- UniProtKB: Q16269 (UniProtKB/Swiss-Prot),   P18754 (UniProtKB/Swiss-Prot),   Q6NT97 (UniProtKB/Swiss-Prot),   A0A0S2Z3J1 (UniProtKB/TrEMBL),   Q5T081 (UniProtKB/TrEMBL),   C9JW69 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001368795   ⟸   NM_001381866
- Peptide Label: isoform c
- UniProtKB: Q16269 (UniProtKB/Swiss-Prot),   P18754 (UniProtKB/Swiss-Prot),   Q6NT97 (UniProtKB/Swiss-Prot),   A0A0S2Z3J1 (UniProtKB/TrEMBL),   Q5T081 (UniProtKB/TrEMBL),   C9JW69 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000381931   ⟸   ENST00000398958
Ensembl Acc Id: ENSP00000497402   ⟸   ENST00000649185
Ensembl Acc Id: ENSP00000413644   ⟸   ENST00000411533
Ensembl Acc Id: ENSP00000362937   ⟸   ENST00000373831
Ensembl Acc Id: ENSP00000362939   ⟸   ENST00000373833
Ensembl Acc Id: ENSP00000362938   ⟸   ENST00000373832
Ensembl Acc Id: ENSP00000402740   ⟸   ENST00000427469
Ensembl Acc Id: ENSP00000402260   ⟸   ENST00000419074
Ensembl Acc Id: ENSP00000394650   ⟸   ENST00000430407
Ensembl Acc Id: ENSP00000472057   ⟸   ENST00000486790
Ensembl Acc Id: ENSP00000405258   ⟸   ENST00000434290
Ensembl Acc Id: ENSP00000508074   ⟸   ENST00000683442

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P18754-F1-model_v2 AlphaFold P18754 1-421 view protein structure

Promoters
RGD ID:6854730
Promoter ID:EPDNEW_H530
Type:initiation region
Name:RCC1_1
Description:regulator of chromosome condensation 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H531  EPDNEW_H532  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,506,044 - 28,506,104EPDNEW
RGD ID:6854732
Promoter ID:EPDNEW_H531
Type:initiation region
Name:RCC1_3
Description:regulator of chromosome condensation 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H530  EPDNEW_H532  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,507,367 - 28,507,427EPDNEW
RGD ID:6854734
Promoter ID:EPDNEW_H532
Type:initiation region
Name:RCC1_2
Description:regulator of chromosome condensation 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H530  EPDNEW_H531  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,518,252 - 28,518,312EPDNEW
RGD ID:6787138
Promoter ID:HG_KWN:1638
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000010325,   UC001BQD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36128,707,621 - 28,709,907 (+)MPROMDB
RGD ID:6785365
Promoter ID:HG_KWN:1640
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000373832,   NM_001048194,   NM_001048195,   OTTHUMT00000010326,   OTTHUMT00000010328,   OTTHUMT00000346590
Position:
Human AssemblyChrPosition (strand)Source
Build 36128,716,691 - 28,717,552 (+)MPROMDB
RGD ID:6786402
Promoter ID:HG_KWN:1642
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000010329
Position:
Human AssemblyChrPosition (strand)Source
Build 36128,730,946 - 28,731,446 (+)MPROMDB
RGD ID:6786403
Promoter ID:HG_KWN:1643
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000092194
Position:
Human AssemblyChrPosition (strand)Source
Build 36128,734,221 - 28,735,022 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1913 AgrOrtholog
COSMIC RCC1 COSMIC
Ensembl Genes ENSG00000180198 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000373831 ENTREZGENE
  ENST00000373831.7 UniProtKB/Swiss-Prot
  ENST00000373832 ENTREZGENE
  ENST00000373832.5 UniProtKB/Swiss-Prot
  ENST00000373833 ENTREZGENE
  ENST00000373833.10 UniProtKB/Swiss-Prot
  ENST00000398958 ENTREZGENE
  ENST00000398958.6 UniProtKB/Swiss-Prot
  ENST00000411533 ENTREZGENE
  ENST00000411533.5 UniProtKB/TrEMBL
  ENST00000419074.5 UniProtKB/TrEMBL
  ENST00000427469.5 UniProtKB/TrEMBL
  ENST00000430407.1 UniProtKB/TrEMBL
  ENST00000434290.6 UniProtKB/TrEMBL
  ENST00000486790.2 UniProtKB/TrEMBL
  ENST00000649185.1 UniProtKB/Swiss-Prot
  ENST00000683442 ENTREZGENE
  ENST00000683442.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000180198 GTEx
HGNC ID HGNC:1913 ENTREZGENE
Human Proteome Map RCC1 Human Proteome Map
InterPro Ran_GTPase-activating UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1/BLIP-II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reg_chr_condens UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1104 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1104 ENTREZGENE
OMIM 179710 OMIM
PANTHER REGULATOR OF CHROMOSOME CONDENSATION UniProtKB/Swiss-Prot
  REGULATOR OF CHROMOSOME CONDENSATION UniProtKB/Swiss-Prot
  REGULATOR OF CHROMOSOME CONDENSATION UniProtKB/TrEMBL
  REGULATOR OF CHROMOSOME CONDENSATION UniProtKB/TrEMBL
Pfam RCC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1_2 UniProtKB/TrEMBL
PharmGKB PA26449 PharmGKB, RGD
PRINTS RCCNDNSATION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RCC1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50985 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z3I4 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3J1 ENTREZGENE
  A0A0S2Z404 ENTREZGENE, UniProtKB/TrEMBL
  C9J3R0_HUMAN UniProtKB/TrEMBL
  C9JMJ4_HUMAN UniProtKB/TrEMBL
  C9JQZ4_HUMAN UniProtKB/TrEMBL
  C9JRH2_HUMAN UniProtKB/TrEMBL
  C9JW69 ENTREZGENE, UniProtKB/TrEMBL
  M0R1Q8_HUMAN UniProtKB/TrEMBL
  P18754 ENTREZGENE
  Q16269 ENTREZGENE
  Q5T081 ENTREZGENE, UniProtKB/TrEMBL
  Q6NT97 ENTREZGENE
  RCC1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A0S2Z3J1 UniProtKB/TrEMBL
  Q16269 UniProtKB/Swiss-Prot
  Q6NT97 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-16 RCC1  regulator of chromosome condensation 1  SNHG3-RCC1  SNHG3-RCC1 readthrough transcript  Data merged from RGD:1642405 737654 PROVISIONAL