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ESR1

GENERAL INFORMATION

Gene namei

 ESR1

Gene descriptioni

 Estrogen receptor 1

Protein classi

 Cancer-related genes
Disease related genes
FDA approved drug targets
Nuclear receptors
Predicted intracellular proteins
Transcription factors

Predicted localizationi

 Intracellular

Number of transcriptsi

 10
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HUMAN PROTEIN ATLAS INFORMATION

RNA categoryi
TCGA (cancer tissue):Group enriched (breast cancer, endometrial cancer, ovarian cancer)
HPA (cell line):Group enriched (MCF7, T-47d)
HPA (normal tissue):Group enriched (breast, cervix, uterine, endometrium, fallopian tube, smooth muscle)

Protein evidencei

 Evidence at protein level

Protein expression
normal tissuei

 Selective nuclear expression in female genitalia.

ANTIBODY IHC RELIABILITY

Data reliability
descriptioni

 Antibody staining consistent with RNA expression data.

Reliability scorei

 Supported based on 5 antibodies.
HPA000449 , HPA000450 , CAB000037 , CAB055099 , CAB072858
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PROGNOSTIC SUMMARYi
Prognostic marker in endometrial cancer (favourable).
Endometrial cancer p<0.001
Show all

RNA EXPRESSION OVERVIEWi
TCGA dataseti
RNA cancer category: Group enriched (breast cancer, endometrial cancer, ovarian cancer)

PROTEIN EXPRESSIONi
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARYi
HPA000449
HPA000450
CAB000037
CAB055099
CAB072858

GENE INFORMATIONi

Gene name

 ESR1 (HGNC Symbol)

Synonyms

 Era, ESR, NR3A1

Description

 Estrogen receptor 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Mar 2014]

Chromosome

 6

Cytoband

Chromosome location (bp)

 151656691 - 152129619

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000091831 (version 83.38)

Entrez gene

 2099

UniProt

 P03372 (UniProt - Evidence at protein level)

neXtProt

 NX_P03372

Antibodypedia

 ESR1 antibodies

PROTEIN BROWSERi
ESR1-001
ESR1-002
ESR1-004
ESR1-007
ESR1-008
ESR1-009
ESR1-010
ESR1-201
ESR1-202
ESR1-203

PROTEIN INFORMATIONi

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ESR1-001
ENSP00000206249
ENST00000206249
P03372 [Direct mapping]
Estrogen receptor
G4XH65 [Target identity:100%; Query identity:100%]
Estrogen receptor
Show all
Nuclear receptors
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0000790 [nuclear chromatin]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001046 [core promoter sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0005496 [steroid binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006338 [chromatin remodeling]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007165 [signal transduction]
GO:0007200 [phospholipase C-activating G-protein coupled receptor signaling pathway]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0008013 [beta-catenin binding]
GO:0008134 [transcription factor binding]
GO:0008270 [zinc ion binding]
GO:0010467 [gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010863 [positive regulation of phospholipase C activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019899 [enzyme binding]
GO:0030235 [nitric-oxide synthase regulator activity]
GO:0030284 [estrogen receptor activity]
GO:0030518 [intracellular steroid hormone receptor signaling pathway]
GO:0030520 [intracellular estrogen receptor signaling pathway]
GO:0032355 [response to estradiol]
GO:0034056 [estrogen response element binding]
GO:0035327 [transcriptionally active chromatin]
GO:0038052 [RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding]
GO:0042802 [identical protein binding]
GO:0043124 [negative regulation of I-kappaB kinase/NF-kappaB signaling]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043433 [negative regulation of sequence-specific DNA binding transcription factor activity]
GO:0043565 [sequence-specific DNA binding]
GO:0043627 [response to estrogen]
GO:0045429 [positive regulation of nitric oxide biosynthetic process]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0051000 [positive regulation of nitric-oxide synthase activity]
GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity]
GO:0051117 [ATPase binding]
GO:0071392 [cellular response to estradiol stimulus]
Show all
 595 aa
66.2 kDa 		No 0
ESR1-002
ENSP00000342630
ENST00000338799
P03372 [Direct mapping]
Estrogen receptor
G4XH65 [Target identity:100%; Query identity:100%]
Estrogen receptor
Show all
Nuclear receptors
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0000790 [nuclear chromatin]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001046 [core promoter sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0005496 [steroid binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006338 [chromatin remodeling]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007165 [signal transduction]
GO:0007200 [phospholipase C-activating G-protein coupled receptor signaling pathway]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0008013 [beta-catenin binding]
GO:0008134 [transcription factor binding]
GO:0008270 [zinc ion binding]
GO:0010467 [gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010863 [positive regulation of phospholipase C activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019899 [enzyme binding]
GO:0030235 [nitric-oxide synthase regulator activity]
GO:0030284 [estrogen receptor activity]
GO:0030518 [intracellular steroid hormone receptor signaling pathway]
GO:0030520 [intracellular estrogen receptor signaling pathway]
GO:0032355 [response to estradiol]
GO:0034056 [estrogen response element binding]
GO:0035327 [transcriptionally active chromatin]
GO:0038052 [RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding]
GO:0042802 [identical protein binding]
GO:0043124 [negative regulation of I-kappaB kinase/NF-kappaB signaling]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043433 [negative regulation of sequence-specific DNA binding transcription factor activity]
GO:0043565 [sequence-specific DNA binding]
GO:0043627 [response to estrogen]
GO:0045429 [positive regulation of nitric oxide biosynthetic process]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0051000 [positive regulation of nitric-oxide synthase activity]
GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity]
GO:0051117 [ATPase binding]
GO:0071392 [cellular response to estradiol stimulus]
Show all
 595 aa
66.2 kDa 		No 0
ESR1-004
ENSP00000385373
ENST00000404742
Q5T5H8 [Direct mapping]
Estrogen receptor
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Show all
GO:0003677 [DNA binding]
GO:0005496 [steroid binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0030284 [estrogen receptor activity]
GO:0043401 [steroid hormone mediated signaling pathway]
Show all
 84 aa
9 kDa 		No 0
ESR1-007
ENSP00000411105
ENST00000446550
Q9UE35 [Direct mapping]
Estrogen receptor; Estrogen receptor protein
Show all
Nuclear receptors
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Show all
GO:0003677 [DNA binding]
GO:0005496 [steroid binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0030284 [estrogen receptor activity]
GO:0043401 [steroid hormone mediated signaling pathway]
Show all
 115 aa
12.1 kDa 		No 0
ESR1-008
ENSP00000394721
ENST00000427531
H0Y4W6 [Direct mapping]
Estrogen receptor
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0005496 [steroid binding]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
Show all
 310 aa
35.3 kDa 		No 0
ESR1-009
ENSP00000384064
ENST00000406599
Q9H2M1 [Direct mapping]
Estrogen receptor; Estrogen receptor alpha
Show all
Nuclear receptors
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Show all
GO:0003677 [DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0005496 [steroid binding]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0030284 [estrogen receptor activity]
GO:0043401 [steroid hormone mediated signaling pathway]
Show all
 334 aa
36.7 kDa 		No 0
ESR1-010
ENSP00000401995
ENST00000415488
B0QYW7 [Direct mapping]
Estrogen receptor
Show all
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
Show all
 107 aa
12.3 kDa 		No 0
ESR1-201
ENSP00000405330
ENST00000440973
P03372 [Direct mapping]
Estrogen receptor
G4XH65 [Target identity:100%; Query identity:100%]
Estrogen receptor
Show all
Nuclear receptors
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0000790 [nuclear chromatin]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001046 [core promoter sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001223 [transcription coactivator binding]
GO:0001547 [antral ovarian follicle growth]
GO:0002064 [epithelial cell development]
GO:0002076 [osteoblast development]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0004879 [RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding]
GO:0005496 [steroid binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006338 [chromatin remodeling]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007165 [signal transduction]
GO:0007200 [phospholipase C-activating G-protein coupled receptor signaling pathway]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0008013 [beta-catenin binding]
GO:0008134 [transcription factor binding]
GO:0008209 [androgen metabolic process]
GO:0008270 [zinc ion binding]
GO:0008584 [male gonad development]
GO:0010467 [gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010863 [positive regulation of phospholipase C activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019899 [enzyme binding]
GO:0030235 [nitric-oxide synthase regulator activity]
GO:0030284 [estrogen receptor activity]
GO:0030315 [T-tubule]
GO:0030518 [intracellular steroid hormone receptor signaling pathway]
GO:0030520 [intracellular estrogen receptor signaling pathway]
GO:0030522 [intracellular receptor signaling pathway]
GO:0031798 [type 1 metabotropic glutamate receptor binding]
GO:0032355 [response to estradiol]
GO:0032403 [protein complex binding]
GO:0034056 [estrogen response element binding]
GO:0035327 [transcriptionally active chromatin]
GO:0036312 [phosphatidylinositol 3-kinase regulatory subunit binding]
GO:0038052 [RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding]
GO:0042562 [hormone binding]
GO:0042802 [identical protein binding]
GO:0042981 [regulation of apoptotic process]
GO:0043005 [neuron projection]
GO:0043124 [negative regulation of I-kappaB kinase/NF-kappaB signaling]
GO:0043195 [terminal bouton]
GO:0043204 [perikaryon]
GO:0043234 [protein complex]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043433 [negative regulation of sequence-specific DNA binding transcription factor activity]
GO:0043523 [regulation of neuron apoptotic process]
GO:0043565 [sequence-specific DNA binding]
GO:0043627 [response to estrogen]
GO:0045429 [positive regulation of nitric oxide biosynthetic process]
GO:0045742 [positive regulation of epidermal growth factor receptor signaling pathway]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046325 [negative regulation of glucose import]
GO:0046697 [decidualization]
GO:0048146 [positive regulation of fibroblast proliferation]
GO:0048471 [perinuclear region of cytoplasm]
GO:0048662 [negative regulation of smooth muscle cell proliferation]
GO:0050679 [positive regulation of epithelial cell proliferation]
GO:0051000 [positive regulation of nitric-oxide synthase activity]
GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity]
GO:0051117 [ATPase binding]
GO:0060009 [Sertoli cell development]
GO:0060011 [Sertoli cell proliferation]
GO:0060065 [uterus development]
GO:0060068 [vagina development]
GO:0060523 [prostate epithelial cord elongation]
GO:0060527 [prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis]
GO:0060687 [regulation of branching involved in prostate gland morphogenesis]
GO:0060745 [mammary gland branching involved in pregnancy]
GO:0060749 [mammary gland alveolus development]
GO:0060750 [epithelial cell proliferation involved in mammary gland duct elongation]
GO:0070374 [positive regulation of ERK1 and ERK2 cascade]
GO:0071391 [cellular response to estrogen stimulus]
GO:0071392 [cellular response to estradiol stimulus]
GO:0090209 [negative regulation of triglyceride metabolic process]
GO:1901215 [negative regulation of neuron death]
GO:1990375 [baculum development]
Show all
 595 aa
66.2 kDa 		No 0
ESR1-202
ENSP00000387500
ENST00000443427
P03372 [Direct mapping]
Estrogen receptor
G4XH65 [Target identity:100%; Query identity:100%]
Estrogen receptor
Show all
Nuclear receptors
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0000790 [nuclear chromatin]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001046 [core promoter sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0005496 [steroid binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006338 [chromatin remodeling]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007165 [signal transduction]
GO:0007200 [phospholipase C-activating G-protein coupled receptor signaling pathway]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0008013 [beta-catenin binding]
GO:0008134 [transcription factor binding]
GO:0008270 [zinc ion binding]
GO:0010467 [gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010863 [positive regulation of phospholipase C activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019899 [enzyme binding]
GO:0030235 [nitric-oxide synthase regulator activity]
GO:0030284 [estrogen receptor activity]
GO:0030518 [intracellular steroid hormone receptor signaling pathway]
GO:0030520 [intracellular estrogen receptor signaling pathway]
GO:0032355 [response to estradiol]
GO:0034056 [estrogen response element binding]
GO:0035327 [transcriptionally active chromatin]
GO:0038052 [RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding]
GO:0042802 [identical protein binding]
GO:0043124 [negative regulation of I-kappaB kinase/NF-kappaB signaling]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043433 [negative regulation of sequence-specific DNA binding transcription factor activity]
GO:0043565 [sequence-specific DNA binding]
GO:0043627 [response to estrogen]
GO:0045429 [positive regulation of nitric oxide biosynthetic process]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0051000 [positive regulation of nitric-oxide synthase activity]
GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity]
GO:0051117 [ATPase binding]
GO:0071392 [cellular response to estradiol stimulus]
Show all
 595 aa
66.2 kDa 		No 0
ESR1-203
ENSP00000415934
ENST00000456483
Q9H2M2 [Direct mapping]
Estrogen receptor; Estrogen receptor alpha
Show all
Nuclear receptors
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Show all
GO:0003677 [DNA binding]
GO:0005496 [steroid binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0030284 [estrogen receptor activity]
GO:0043401 [steroid hormone mediated signaling pathway]
Show all
 152 aa
16.3 kDa 		No 0

Contact

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The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.