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> Protein (NX_P54132)
Protein (NX_P54132)
Protein
Gene SymbolBLM to neXtProt (NX_P54132)
DescriptionBloom syndrome protein
Chromosome15
Location15q26.1 (91260558 ~ 91358859) to Ensembl
Sequene Features : Isoforms 1, Variants 159, PTMs 21 to neXtProt Sequence Features
Gene
Ontologies
GO: Biological Process GO: Mulecular Function GO: Cellular Component
.cellular response to camptothecin
.cellular response to hydroxyurea
.cellular response to ionizing radiation
  + 25 more...
.G-quadruplex DNA binding
.ATP-dependent 3'-5' DNA helicase activity
.annealing helicase activity
  + 9 more...
.pronucleus
.PML body
.nuclear matrix
  + 8 more...
Proteomic Evidences
ReleaseProtein EvidencePrAbIsoformsVariantsPTMs
2015-01-01protein level
1 159 21
2014-09-19protein level
1 138 21
2014-05-27protein level
1 138 22
2014-02-25protein level
1 138 22
2013-12-09protein level
1 108 22
2013-11-01protein level
1 107 22
2013-09-12protein level
1 107 22
2013-08-17protein level
1 107 22
2013-07-15protein level
1 73 22
2013-06-11protein level
1 73 22
2013-02-12protein level
1 48 26
2012-12-20protein level
1 46 26
2012-10-30protein level
1 54 26
2012-10-07protein level
1 54 26
2012-08-24protein level
1 53 26
2012-07-28protein level
1 53 26
2012-06-08protein level
1 53 26
2012-05-07protein level
1 39 26
2012-04-10protein level
1 39 26
2012-01-13protein level
1 26 26
2011-12-20protein level
1 26 26
2011-11-11protein level
1 26 19
2011-08-23protein level
1 26 19
Protein Isoforms
Isoform Ac UGSMw (Da)
NX_P54132-1
67 0 0 158900.2576
: Uniquely mapped peptide
: Gene-specific peptide
: Shared peptide
Interacting Partners
No. Exp. ref. Symbol   PE Pr Ab Di   GO: Biological Process GO: Mulecular Function GO: Cellular Component
1 EBI-621372,EBI-1055693 RAD51D  
  .strand invasion
.reciprocal meiotic recombination
.DNA repair
  + 2 more...
.gamma-tubulin binding
.DNA-dependent ATPase activity
.ATP binding
  + 2 more...
.Rad51B-Rad51C-Rad51D-XRCC2 complex
.centrosome
.cytoplasm
  + 3 more...
2 EBI-621372,EBI-621389 RPA1  
  .regulation of cellular response to heat
.error-free translesion synthesis
.homeostasis of number of cells within a tissue
  + 31 more...
.metal ion binding
.single-stranded DNA binding
.damaged DNA binding
.chromatin binding
.PML body
.DNA replication factor A complex
.nucleoplasm
  + 3 more...
3 EBI-621372,EBI-707816 FEN1  
  .RNA phosphodiester bond hydrolysis, endonucleolytic
.nucleic acid phosphodiester bond hydrolysis
.DNA replication, removal of RNA primer
  + 11 more...
.manganese ion binding
.5'-flap endonuclease activity
.5'-3' exonuclease activity
  + 8 more...
.membrane
.plasma membrane
.mitochondrion
  + 3 more...
4 EBI-621372,EBI-710997 TERF1  
  .negative regulation of telomerase activity
.cell division
.protein homooligomerization
  + 14 more...
.protein heterodimerization activity
.protein homodimerization activity
.telomeric DNA binding
  + 5 more...
.spindle
.cytoplasm
.nucleolus
  + 5 more...
5 EBI-621372,EBI-368417 WRN  
  .nucleic acid phosphodiester bond hydrolysis
.cellular response to gamma radiation
.positive regulation of hydrolase activity
  + 23 more...
.G-quadruplex DNA binding
.ATP-dependent 3'-5' DNA helicase activity
.3'-5' DNA helicase activity
  + 15 more...
.centrosome
.nucleolus
.nucleoplasm
6 EBI-621372,EBI-706637 TERF2  
  .negative regulation of cellular senescence
.negative regulation of beta-galactosidase activity
.cellular senescence
  + 15 more...
.protein homodimerization activity
.telomeric DNA binding
.protein C-terminus binding
  + 2 more...
.Golgi apparatus
.cytoplasm
.nucleoplasm
  + 5 more...
7 EBI-621372,EBI-725300 UIMC1  
  .histone H2A K63-linked deubiquitination
.negative regulation of transcription, DNA-templated
.positive regulation of DNA repair
  + 4 more...
.K63-linked polyubiquitin binding
.histone binding
.BRCA1-A complex
.nucleus
8 EBI-621372,EBI-3509650 BRIP1  
  .small molecule metabolic process
.DNA duplex unwinding
.regulation of transcription from RNA polymerase II promoter
  + 2 more...
.4 iron, 4 sulfur cluster binding
.metal ion binding
.ATP binding
  + 2 more...
.nuclear membrane
.cytoplasm
.nucleus
9 EBI-621372,EBI-621339 RMI1  
  .glucose homeostasis
.multicellular organism growth
.response to glucose
  + 2 more...
.N/A .nucleoplasm
.nucleus
EST expression level of Protein Coding Gene (ref. NCBI UniGene EST)
Body Sites
TissuesTPM*
blood16
brain17
cervix41
connective tissue46
embryonic tissue42
eye23
heart44
intestine38
kidney14
larynx42
liver14
lung5
lymph node144
mammary gland19
muscle18
ovary9
pharynx49
placenta14
salivary gland49
skin9
spleen18
testis20
thymus25
tonsil117
trachea19
uterus8
Health State
TissuesTPM*
normal18
breast (mammary gland) tumor10
colorectal tumor71
germ cell tumor30
kidney tumor43
leukemia52
retinoblastoma107
skin tumor15
soft tissue/muscle tissue tumor63
uterine tumor11
Developmental Stage
TissuesTPM*
adult16
embryoid body57
blastocyst48
fetus26
TPM*: Transcripts per million; transcript expression level measured by expression sequence tags.
Expression level of Protein (ref. Human Protein Atlas)
RNA-Seq.
TissuesFPKM
appendix6
bone marrow9.2
cerebral cortex4.8
colon2.9
duodenum1.6
esophagus1.7
gallbladder1.2
heart muscle4.6
lung1.2
lymph node9.1
placenta2.5
salivary gland103.2
skin1
small intestine2.1
spleen3.4
stomach1.9
testis3.7
urinary bladder2.9
Cancer
TumorNumber of patients and Staining levels
breast cancer
carcinoid
cervical cancer
colorectal cancer
endometrial cancer
glioma
head and neck cancer
liver cancer
lung cancer
lymphoma
melanoma
ovarian cancer
pancreatic cancer
prostate cancer
renal cancer
skin cancer
stomach cancer
testis cancer
thyroid cancer
urothelial cancer
RNA-seq colour codes
Highly expressed RNAs (FPKM >50)
Moderately expressed RNAs (50> FPKM >10)
Lower expressed RNAs (10> FPKM >1)
The lowest expressed RNAs (FPKM value of 0 or 1)
Staining level colour codes
Highly expressed protein
Moderately expressed protein
Lower expressed protein
Not Detected
Disease
No.Disease DescriptionRef.
1(#210900, phenotype) Bloom syndrome; BLMOMIM
2(*604610, gene) Recq protein-like 3; RECQL3OMIM
3leukemia;lymphoma;skin squamous cell;other cancers;Bloom SyndromeCGP


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