Human Gene RB1 (uc010act.1)
Description: Homo sapiens mRNA for Retinoblastoma-associated protein variant protein.
RefSeq Summary (NM_000321): The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
Position: hg18 chr13:47,832,154-47,849,171 Size: 17,018 Total Exon Count: 6 Strand: +
Coding Region
Position: hg18 chr13:47,837,067-47,849,171 Size: 12,105 Coding Exon Count: 5
Data last updated at UCSC: 2009-03-03
Sequence and Links to Tools and Databases
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RB1
CDC HuGE Published Literature: RB1
Positive Disease Associations: breast cancer
, osteosarcoma
, retinoblastoma
, retinoblastoma is associated
Related Studies: breast cancer Berns EM et al. 1995, Association between RB-1 gene alterations and factors of favourable prognosis in human breast cancer without effect on survival., International journal of cancer. Journal international du cancer. 1995 Apr;64(2):140-5.
[PubMed 7615356 ]
osteosarcoma Issing WJ et al. 1993, An association of the RB gene with osteosarcoma: molecular genetic evaluation of a case of hereditary retinoblastoma., European archives of oto-rhino-laryngology. 1993 ;250(5):277-80.
[PubMed 8217129 ]
retinoblastoma Houdayer, C. et al. 2004, Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF., Human mutation. 2004 Feb;23(2):193-202.
[PubMed 14722923 ]
This study demonstrates the reliability of DHPLC for RB1 analysis, but also illustrates the need for a deletion scanning approach. Finally, considering the benefits to retinoblastoma patients, RB1 testing should be widely implemented in routine healthcare because our study clearly illustrates its feasibility.
  more ... click here to view the complete list
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
D020123
Sirolimus
C059514
resveratrol
D001564
Benzo(a)pyrene
D003907
Dexamethasone
D013629
Tamoxifen
D013749
Tetrachlorodibenzodioxin
D014212
Tretinoin
C006780
bisphenol A
C017947
sodium arsenite
C093973
2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one
C085911
2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one
C049584
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
C016583
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone
C054852
7-hydroxystaurosporine
D016604
Aflatoxin B1
D001554
Benzene
D003994
Bucladesine
D002110
Caffeine
D002166
Camptothecin
D002251
Carbon Tetrachloride
D002518
Ceramides
D002945
Cisplatin
D003474
Curcumin
D003687
Dehydroepiandrosterone
D004052
Diethylnitrosamine
D004054
Diethylstilbestrol
D017292
Doxazosin
D004958
Estradiol
D004997
Ethinyl Estradiol
D005472
Fluorouracil
D007213
Indomethacin
D018021
Lithium Chloride
D008148
Lovastatin
D009151
Mustard Gas
D009538
Nicotine
D019821
Simvastatin
D013853
Thioacetamide
D014638
Vanadates
C077990
alvocidib
C070515
bisindolylmaleimide I
C026105
butylidenephthalide
C105934
celecoxib
C002994
ethylene dimethanesulfonate
C004999
ferulic acid
C027185
indirubin
C090046
olomoucine
C104586
roscovitine
C085746
rottlerin
C439285
(5-fluoro-2-methyl-1-(4-pyridyl)methylene-3-(N-benzyl)-indene)-acetamide hydrochloride
C492909
1,1-bis(3'-indolyl)-1-(4-trifluoromethylphenyl)methane
C028474
1,4-bis(2-(3,5-dichloropyridyloxy))benzene
D015655
1-Methyl-4-phenylpyridinium
C097240
15-deoxy-delta(12,14)-prostaglandin J2
C016403
2,4-dinitrotoluene
C089946
2,4-thiazolidinedione
C532162
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
C439584
2-(4-hydroxyphenyl)-3-methyl-1-(4-(2-piperidin-1-yl-ethoxy)-benzyl)-1H-indol-5-ol
D015073
2-Acetylaminofluorene
C521501
2-bromo-12,13-dihydro-5-indolo(2,3-a)pyrrolo(3,4-c)carbazole-5,7(6H)-dione
C120275
2-hydroxy-1-naphthylaldehyde isonicotinoyl hydrazone
C497101
2-hydroxy-9-cis-octadecenoic acid
C019499
2-nitrofluorene
C494914
3,5,3',4',5'-pentamethoxystilbene
C034534
3,7,11,15-tetramethyl-2,4,6,10,14-hexadecapentaenoic acid
C560905
3-(2-(dimethylamino)isopropoxy)-1-hydroxybenzo(b)naphtho(2,3-d)furan-6,11-dione
C025160
3-aminobenzamide
C015392
3-nitropropionic acid
C038864
4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid
C090942
4-(4-fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)imidazole
C119130
4-(5-(4-chlorophenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
C027576
4-hydroxy-2-nonenal
C510786
5-nitroso-8-quinolinol
C107875
6-(methylamino)pyrido(3,4-d)pyrimidine
C531937
6-O-angeloylenolin
C072876
A 771726
D000082
Acetaminophen
D000111
Acetylcysteine
D000157
Aconitine
D017500
Adenovirus E1A Proteins
D000420
Albuterol
C068073
Am 580
D017311
Amlodipine
D000643
Ammonium Chloride
D017638
Asbestos, Crocidolite
D001241
Aspirin
D001310
Auranofin
C492810
BL1521
D002038
Bungarotoxins
C073829
Bupleuran 2IIc
D002066
Busulfan
D002087
Butyrates
C103436
CB 1093
C477330
CP-654577
C408982
CPG-oligonucleotide
D002117
Calcitriol
D002211
Capsaicin
D002509
Cephaloridine
D002706
Chlordan
D002762
Cholecalciferol
D002995
Clofibric Acid
D003078
Colchicine
D003300
Copper
C539572
CpG-ODN DSP30
D003545
Cysteine
D003634
DDT
C100805
DIBA-1
D003630
Daunorubicin
D003676
Deferoxamine
D003993
Dibutyl Phthalate
D001728
Dicumarol
D013196
Dihydrotestosterone
D004128
Dimethylnitrosamine
D004147
Dioxins
D004221
Disulfiram
D004281
Docosahexaenoic Acids
D004317
Doxorubicin
D015118
Eicosapentaenoic Acid
D004642
Emodin
D000431
Ethanol
D005038
Ethylnitrosourea
D005047
Etoposide
C096856
FTI 277
D017313
Fenretinide
D005419
Flavonoids
C560077
GSK 1120212
D019833
Genistein
D005839
Gentamicins
D005938
Glucocorticoids
D005978
Glutathione
C403899
HS 1030
C403900
HS 1183
C479128
HS 1200
C503536
HS-1199
D006493
Heparin
D006533
Heptachlor
D006588
Hexanones
D006812
Humic Substances
D006835
Hydrazones
D006843
Hydrocarbons, Chlorinated
D006861
Hydrogen Peroxide
C026777
ICI 118551
D007052
Ibuprofen
D007211
Indoles
D017953
Isocyanates
C074279
KH 1060
C072105
KN 93
D007649
Ketamine
C060893
L 663536
C477361
LAQ824
C095104
LG 100268
D007978
Levamisole
D001556
Lindane
D008070
Lipopolysaccharides
D061466
Lopinavir
C523799
MRK 003
D008701
Methapyrilene
D008727
Methotrexate
D008730
Methoxsalen
D008770
Methylnitrosourea
D015735
Mifepristone
D016685
Mitomycin
C044387
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine
C562255
N-(2-(4-hydroxyphenyl)ethyl)-2-(2,5-dimethoxyphenyl)-3-(3-methoxy-4-hydroxyphenyl)acrylamide
C439829
N-(3-chloro-7-indolyl)-1,4-benzenedisulphonamide
C404397
NSC 680410
C466913
NU2058
D009637
Nordihydroguaiaretic Acid
C066515
O-(chloroacetylcarbamoyl)fumagillol
D019319
Okadaic Acid
D019301
Oleic Acid
D009840
Oligomycins
D010100
Oxygen
D017239
Paclitaxel
D052638
Particulate Matter
D010416
Pentachlorophenol
D010424
Pentobarbital
D037342
Pertussis Toxin
D010634
Phenobarbital
D010656
Phenylephrine
D010833
Phytic Acid
D010882
Piperonyl Butoxide
D010894
Piroxicam
D010936
Plant Extracts
D011084
Polycyclic Hydrocarbons, Aromatic
D011134
Polysaccharides
D011241
Prednisone
D011374
Progesterone
D011794
Quercetin
D020849
Raloxifene
D012176
Retinoids
D019438
Ritonavir
C084904
Ro 41-5253
C039961
S-(1,2-dichlorovinyl)cysteine
C513635
S-2-pentyl-4-pentynoic hydroxamic acid
C093642
SB 203580
D013458
Sulfur Dioxide
D013467
Sulindac
D013729
Terpenes
D013755
Tetradecanoylphorbol Acetate
D013806
Theophylline
D013876
Thiophenes
D013893
Thiram
D024505
Tocopherols
D014044
Tolbutamide
D014050
Toluene
D014112
Toxaphene
D014284
Triiodothyronine
C113580
U 0126
D014520
Urethane
D014580
Ursodeoxycholic Acid
D014635
Valproic Acid
D024482
Vitamin K 2
D024483
Vitamin K 3
C410228
ZK159222
D015032
Zinc
D019287
Zinc Sulfate
D019345
Zinc Acetate
C096064
actein
C058956
acteoside
C103303
alitretinoin
C510660
alopestatin
C040534
alpha-hexachlorocyclohexane
C011512
alpha-naphthoflavone
C030419
andrographolide
C023650
aniline
C432165
anthra(1,9-cd)pyrazol-6(2H)-one
C101577
apo-12'-carotenoic acid
C483690
apo-14'-carotenoic acid
C006632
arsenic trioxide
C050510
arsenic trichloride
C065179
atorvastatin
C006680
baicalein
D019324
beta-Naphthoflavone
C044887
beta-methylcholine
C095105
bexarotene
C053541
bicalutamide
C400082
bortezomib
C023623
brassinolide
C028031
cadmium acetate
C055494
caffeic acid phenethyl ester
C031938
calmidazolium
C059041
calyculin A
C110904
capecitabine
C111238
carboxycinnamic acid bishydroxamide
C030816
chloramine
C074702
chromium hexavalent ion
C043867
cicaprost
C015763
cumene
C013905
cyclopentenone
C014347
decitabine
C107676
deguelin
C067311
docetaxel
C045651
epigallocatechin gallate
C498475
equiguard
C400278
erlotinib
C107135
everolimus
C093323
farnesylthiosalicylic acid
C028610
flavanone
C065180
fluvastatin
C007789
fucoidan
C038958
gadolinium chloride
C007845
gingerol
C089796
hexabromocyclododecane
C014026
hexamethylene bisacetamide
C070164
homocastasterone
C489023
hypsiziprenol A9
C097613
imatinib
C409043
inecalcitol
C506002
ircinin-1
C051890
irinotecan
C067431
letrozole
C115354
lonafarnib
C015329
lycopene
C009818
lysocellin
C051883
maxacalcitol
C008493
methylselenic acid
C406082
monomethylarsonous acid
C437683
motexafin gadolinium
C017096
n-butoxyethanol
C022838
nickel chloride
C055122
orlistat
C030110
oxaliplatin
C055778
panaxydol
C121565
pifithrin
C060836
pioglitazone
C006253
pirinixic acid
C017674
procyanidin
C107773
pterostilbene
C009131
pyrimidin-2-one beta-ribofuranoside
C540615
retigeric acid B
C087123
romidepsin
C089730
rosiglitazone
C078903
seocalcitol
C471405
sorafenib
C016766
sulforafan
C025462
sulindac sulfide
C112765
tanespimycin
C021751
tanshinone
C031655
tauroursodeoxycholic acid
C086827
tazarotene
C401859
temsirolimus
C011363
terephthalic acid
C527525
teriflunomide
D020122
tert-Butylhydroperoxide
C534735
tetraarsenic tetrasulfide
C012589
trichostatin A
C057693
troglitazone
C017963
vinyl carbamate
C024534
vitamin k5
C111237
vorinostat
C009687
wortmannin
Microarray Expression Data
mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse Rat Zebrafish D. melanogaster C. elegans S. cerevisiae
No ortholog No ortholog No ortholog No ortholog No ortholog No ortholog
Gene Details
Gene Sorter
Descriptions from all associated GenBank mRNAs
AK291258 - Homo sapiens cDNA FLJ75028 complete cds, highly similar to Homo sapiens retinoblastoma 1 (including osteosarcoma) (RB1), mRNA.AK300284 - Homo sapiens cDNA FLJ51085 complete cds, highly similar to Retinoblastoma-associated protein.AK307730 - Homo sapiens cDNA, FLJ97678.AK299179 - Homo sapiens cDNA FLJ52431 complete cds, highly similar to Retinoblastoma-associated protein.BC040540 - Homo sapiens retinoblastoma 1, mRNA (cDNA clone MGC:39656 IMAGE:5267622), complete cds.BC039060 - Homo sapiens retinoblastoma 1, mRNA (cDNA clone MGC:29887 IMAGE:5142020), complete cds.M28419 - Human retinoblastoma susceptibility protein mRNA, complete cds.M15400 - Human retinoblastoma susceptibility mRNA, complete cds.L41870 - Homo sapiens retinoblastoma susceptibility protein (RB1) mRNA and mutations.AB208788 - Homo sapiens mRNA for Retinoblastoma-associated protein variant protein.M33647 - Human retinoblastoma associated (RB1) mRNA, complete cds.AB384726 - Synthetic construct DNA, clone: pF1KB3021, Homo sapiens RB1 gene for retinoblastoma-associated protein, complete cds, without stop codon, in Flexi system.DQ891564 - Synthetic construct clone IMAGE:100004194; FLH178103.01X; RZPDo839H07126D retinoblastoma 1 (including osteosarcoma) (RB1) gene, encodes complete protein.DQ894752 - Synthetic construct Homo sapiens clone IMAGE:100009212; FLH178099.01L; RZPDo839H07125D retinoblastoma 1 (including osteosarcoma) (RB1) gene, encodes complete protein.AY429568 - Homo sapiens RB1v_1 mRNA sequence; alternatively spliced.KJ897452 - Synthetic construct Homo sapiens clone ccsbBroadEn_06846 RB1 gene, encodes complete protein.M19701 - Human mutated retinoblastoma susceptibility (RB) mRNA, complete cds.CU691646 - Synthetic construct Homo sapiens gateway clone IMAGE:100017847 5' read RB1 mRNA.
Biochemical and Signaling Pathways
Other Names for This Gene
Alternate Gene Symbols: AY429568, uc001vcb.1UCSC ID: uc010act.1RefSeq Accession: NM_000321
GeneReviews for This Gene
GeneReviews article(s) related to gene RB1:retinoblastoma (Retinoblastoma)
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
AY429568.1
exon count:
6 CDS single in 3' UTR:
no
RNA size:
490
ORF size:
435 CDS single in intron:
no
Alignment % ID:
99.18
txCdsPredict score:
787.00 frame shift in genome:
no
% Coverage:
99.59
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
no
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
Click here
for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
Click here
for details on how this gene model was made and data restrictions if any.