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RNA category is based on mRNA expression levels in the analyzed samples (RNA assay description). The categories include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected. RNA category is calculated separately for data imported from The Genotype-Tissue Expression project (GTEX), FANTOM5 Consortium (FANTOM5) and internally generated Human Protein Atlas (HPA) data.
Protein evidence scores are generated from several independent sources and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence, or iv) not available.
Evidence at protein level
IMMUNOHISTOCHEMISTRY DATA RELIABILITY
Reliability scorei
Reliability score (score description), divided into Enhanced, Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between antibody staining pattern, available RNA-Seq and gene/protein characterization data, as well as similarity between independent antibodies targeting the same protein.
Below is an overview of RNA and protein expression data generated in the Human Protein Atlas project. Analyzed tissues are divided into color-coded groups according to which functional features they have in common. For each group, a list of included tissues is accessed by clicking on group name, group symbol, RNA bar, or protein bar. Subsequent selection of a particular tissue in this list links to the image data page.
Images of selected tissues give a visual summary of the protein expression profile furthest to the right.
The gray human body provides links to a histology dictionary when clicking on any part of the figure.
RNA expression (TPM)i
RNA-seq results generated in HPA are reported as number of transcripts per million (TPM). Each bar represents the highest expression score found in a particular group of tissues. The assay is described more in detail in Assays & Annotation.
Protein expression (score)i
Each bar represents the highest expression score found in a particular group of tissues. Protein expression scores are based on a best estimate of the "true" protein expression from a knowledge-based annotation, described more in detail under Assays & annotation. For genes where more than one antibody has been used, a collective score is set displaying the estimated true protein expression.
Protein expression data is shown for each of the 44 tissues. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. Mouse-over function shows protein score for analyzed cell types in a selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in detail in Assays & annotation.
For genes with available protein data for which a knowledge-based annotation gave inconclusive results, no protein expression data is displayed in the protein expression data overview. However, all immunohistochemical images are still available and the annotation data can be found under Primary data.
Pending normal tissue annotation.
RNA EXPRESSION OVERVIEWi
RNA expression overview shows RNA-data from three different sources: Internally generated Human Protein Atlas (HPA) RNA-seq data, RNA-seq data from the Genotype-Tissue Expression (GTEx) project and CAGE data from FANTOM5 project. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar.
HPA dataseti
HPA dataset RNA-seq tissue data is reported as mean TPM (transcripts per million), corresponding to mean values of the different individual samples from each tissue. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar. The RNA-seq assay is described in detail in Assays & Annotation.
RNA tissue category HPA HPA RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataseti
GTEx dataset RNA-seq data is reported as median RPKM (reads per kilobase per million mapped reads), generated by the Genotype-Tissue Expression (GTEx) project. More information can be found in Assays & Annotation.
RNA tissue category GTEx GTEx RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataseti
FANTOM5 dataset Tissue data obtained through Cap Analysis of Gene Expression (CAGE) are reported as Tags Per Million, generated by the FANTOM5 project. More information can be found in Assays & Annotation.
RNA tissue category FANTOM5 FANTOM5 RNA tissue category (category description) is calculated based on gene expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GENE INFORMATIONi
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Recombination signal binding protein for immunoglobulin kappa J region (HGNC Symbol)
Entrez gene summary
The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q06330 [Direct mapping] Recombining binding protein suppressor of hairless
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Predicted intracellular proteins Transcription factors Immunoglobulin fold Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000150 [recombinase activity] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000982 [transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001103 [RNA polymerase II repressing transcription factor binding] GO:0001525 [angiogenesis] GO:0001837 [epithelial to mesenchymal transition] GO:0002193 [MAML1-RBP-Jkappa- ICN1 complex] GO:0003151 [outflow tract morphogenesis] GO:0003160 [endocardium morphogenesis] GO:0003198 [epithelial to mesenchymal transition involved in endocardial cushion formation] GO:0003214 [cardiac left ventricle morphogenesis] GO:0003222 [ventricular trabecula myocardium morphogenesis] GO:0003256 [regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006310 [DNA recombination] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0007219 [Notch signaling pathway] GO:0007221 [positive regulation of transcription of Notch receptor target] GO:0008134 [transcription factor binding] GO:0030279 [negative regulation of ossification] GO:0030513 [positive regulation of BMP signaling pathway] GO:0035912 [dorsal aorta morphogenesis] GO:0036302 [atrioventricular canal development] GO:0043565 [sequence-specific DNA binding] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0060045 [positive regulation of cardiac muscle cell proliferation] GO:0060716 [labyrinthine layer blood vessel development] GO:0061314 [Notch signaling involved in heart development] GO:0061419 [positive regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0072554 [blood vessel lumenization] GO:0097101 [blood vessel endothelial cell fate specification] GO:1901186 [positive regulation of ERBB signaling pathway] GO:1901189 [positive regulation of ephrin receptor signaling pathway] GO:2000138 [positive regulation of cell proliferation involved in heart morphogenesis]
D6R927 [Direct mapping] Recombining-binding protein suppressor of hairless
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Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000982 [transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
D6RA45 [Direct mapping] Recombining-binding protein suppressor of hairless
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Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000982 [transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
H0Y8R3 [Direct mapping] Recombining-binding protein suppressor of hairless
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Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000982 [transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
D6RCM1 [Direct mapping] Recombining-binding protein suppressor of hairless
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Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000982 [transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
Q06330 [Direct mapping] Recombining binding protein suppressor of hairless
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Predicted intracellular proteins Transcription factors Immunoglobulin fold Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000150 [recombinase activity] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000982 [transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001103 [RNA polymerase II repressing transcription factor binding] GO:0001525 [angiogenesis] GO:0001837 [epithelial to mesenchymal transition] GO:0002193 [MAML1-RBP-Jkappa- ICN1 complex] GO:0003151 [outflow tract morphogenesis] GO:0003160 [endocardium morphogenesis] GO:0003198 [epithelial to mesenchymal transition involved in endocardial cushion formation] GO:0003214 [cardiac left ventricle morphogenesis] GO:0003222 [ventricular trabecula myocardium morphogenesis] GO:0003256 [regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006310 [DNA recombination] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0007219 [Notch signaling pathway] GO:0007221 [positive regulation of transcription of Notch receptor target] GO:0008134 [transcription factor binding] GO:0030279 [negative regulation of ossification] GO:0030513 [positive regulation of BMP signaling pathway] GO:0035912 [dorsal aorta morphogenesis] GO:0036302 [atrioventricular canal development] GO:0043565 [sequence-specific DNA binding] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0060045 [positive regulation of cardiac muscle cell proliferation] GO:0060716 [labyrinthine layer blood vessel development] GO:0061314 [Notch signaling involved in heart development] GO:0061419 [positive regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0072554 [blood vessel lumenization] GO:0097101 [blood vessel endothelial cell fate specification] GO:1901186 [positive regulation of ERBB signaling pathway] GO:1901189 [positive regulation of ephrin receptor signaling pathway] GO:2000138 [positive regulation of cell proliferation involved in heart morphogenesis]
Q06330 [Direct mapping] Recombining binding protein suppressor of hairless
Show all
Predicted intracellular proteins Transcription factors Immunoglobulin fold Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000150 [recombinase activity] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0000982 [transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001103 [RNA polymerase II repressing transcription factor binding] GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0001525 [angiogenesis] GO:0001756 [somitogenesis] GO:0001837 [epithelial to mesenchymal transition] GO:0001974 [blood vessel remodeling] GO:0002193 [MAML1-RBP-Jkappa- ICN1 complex] GO:0002437 [inflammatory response to antigenic stimulus] GO:0003139 [secondary heart field specification] GO:0003151 [outflow tract morphogenesis] GO:0003157 [endocardium development] GO:0003160 [endocardium morphogenesis] GO:0003198 [epithelial to mesenchymal transition involved in endocardial cushion formation] GO:0003214 [cardiac left ventricle morphogenesis] GO:0003222 [ventricular trabecula myocardium morphogenesis] GO:0003256 [regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006310 [DNA recombination] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0006959 [humoral immune response] GO:0007219 [Notch signaling pathway] GO:0007221 [positive regulation of transcription of Notch receptor target] GO:0007507 [heart development] GO:0008134 [transcription factor binding] GO:0008284 [positive regulation of cell proliferation] GO:0008285 [negative regulation of cell proliferation] GO:0009912 [auditory receptor cell fate commitment] GO:0009957 [epidermal cell fate specification] GO:0010468 [regulation of gene expression] GO:0010628 [positive regulation of gene expression] GO:0021983 [pituitary gland development] GO:0030097 [hemopoiesis] GO:0030182 [neuron differentiation] GO:0030183 [B cell differentiation] GO:0030216 [keratinocyte differentiation] GO:0030279 [negative regulation of ossification] GO:0030513 [positive regulation of BMP signaling pathway] GO:0035019 [somatic stem cell population maintenance] GO:0035912 [dorsal aorta morphogenesis] GO:0036302 [atrioventricular canal development] GO:0042127 [regulation of cell proliferation] GO:0042742 [defense response to bacterium] GO:0043011 [myeloid dendritic cell differentiation] GO:0043565 [sequence-specific DNA binding] GO:0045165 [cell fate commitment] GO:0045596 [negative regulation of cell differentiation] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0047485 [protein N-terminus binding] GO:0048505 [regulation of timing of cell differentiation] GO:0048733 [sebaceous gland development] GO:0048820 [hair follicle maturation] GO:0048844 [artery morphogenesis] GO:0060045 [positive regulation of cardiac muscle cell proliferation] GO:0060486 [Clara cell differentiation] GO:0060716 [labyrinthine layer blood vessel development] GO:0060844 [arterial endothelial cell fate commitment] GO:0061314 [Notch signaling involved in heart development] GO:0061419 [positive regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0072554 [blood vessel lumenization] GO:0072602 [interleukin-4 secretion] GO:0097101 [blood vessel endothelial cell fate specification] GO:1901186 [positive regulation of ERBB signaling pathway] GO:1901189 [positive regulation of ephrin receptor signaling pathway] GO:1901297 [positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment] GO:2000138 [positive regulation of cell proliferation involved in heart morphogenesis]
Q06330 [Direct mapping] Recombining binding protein suppressor of hairless
Show all
Predicted intracellular proteins Transcription factors Immunoglobulin fold Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000150 [recombinase activity] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000982 [transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001103 [RNA polymerase II repressing transcription factor binding] GO:0001525 [angiogenesis] GO:0001837 [epithelial to mesenchymal transition] GO:0002193 [MAML1-RBP-Jkappa- ICN1 complex] GO:0003151 [outflow tract morphogenesis] GO:0003160 [endocardium morphogenesis] GO:0003198 [epithelial to mesenchymal transition involved in endocardial cushion formation] GO:0003214 [cardiac left ventricle morphogenesis] GO:0003222 [ventricular trabecula myocardium morphogenesis] GO:0003256 [regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006310 [DNA recombination] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0007219 [Notch signaling pathway] GO:0007221 [positive regulation of transcription of Notch receptor target] GO:0008134 [transcription factor binding] GO:0030279 [negative regulation of ossification] GO:0030513 [positive regulation of BMP signaling pathway] GO:0035912 [dorsal aorta morphogenesis] GO:0036302 [atrioventricular canal development] GO:0043565 [sequence-specific DNA binding] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0060045 [positive regulation of cardiac muscle cell proliferation] GO:0060716 [labyrinthine layer blood vessel development] GO:0061314 [Notch signaling involved in heart development] GO:0061419 [positive regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0072554 [blood vessel lumenization] GO:0097101 [blood vessel endothelial cell fate specification] GO:1901186 [positive regulation of ERBB signaling pathway] GO:1901189 [positive regulation of ephrin receptor signaling pathway] GO:2000138 [positive regulation of cell proliferation involved in heart morphogenesis]