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GENE AND PROTEIN SUMMARY
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The gene and protein summary section shows the gene name and corresponding gene description, parent protein classes for the encoded proteins, and a gene summary from the National Center for Biotechnology Information.
The number of alternative transcripts (splice variants) encoded by the gene, based on the Ensembl database, is reported, together with the number of splice variants with predicted transmembrane regions according to the majority decision method, as well as the number of splice variants with predicted signal peptide according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius.
The "More Gene Data"-button can be used to access the detailed Gene and Protein view, containing more information about the gene and encoded proteins.
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Gene name |
HEXA |
Description |
hexosaminidase A (alpha polypeptide) |
Protein class |
Candidate cardiovascular disease genes, Enzymes, Mapped to UniProt SWISS-PROT, Plasma proteins, Potential transmembrane proteins, Potentially secreted proteins |
Protein evidence |
Medium |
Entrez gene summary |
This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009] |
External links |
Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia |
No of splice variants |
11 in total 0 with predicted TM region 8 with predicted signal peptide |
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SUBCELLULAR LOCATION SUMMARY
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The subcellular location summary section shows the main subcellular location of the encoded proteins and any additional locations. Additional locations are characterized by either a markedly lower staining intensity than the main location, or that it was only observed in a subset of the cell lines. A short summary of the annotated protein location is also given. A description of the assay and annotation can be found here.
The summary data can be based on one or more antibodies (reported by the "Antibodies in assay"-field). If the data is based on one single antibody, the IF validation score for that antibody is reported in the "Reliability (Single)"-field (color-coding described here). If the data is based on more than one antibody, the reliability score for the data is reported as "Reliability ( APE)" (color-coding described here). If the data is based on one automatically selected antibody (best IF score among available antibodies), the IF validation score for that antibody is reported as Reliability (selected) (color-coding described here).
The image to the left is a representative image for the subcellular location of the protein.
The "More Subcell Data"-button can be used to access the Subcellular location view, with more detailed information on the subcellular location of the protein in different cell lines, including all images.
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The subcellular location summary section shows the main subcellular location of the encoded proteins and any additional locations. Additional locations are characterized by either a markedly lower staining intensity than the main location, or that it was only observed in a subset of the cell lines. A short summary of the annotated protein location is also given. A description of the assay and annotation can be found here.
The summary data can be based on one or more antibodies (reported by the "Antibodies in assay"-field). If the data is based on one single antibody, the IF validation score for that antibody is reported in the "Reliability (Single)"-field (color-coding described here). If the data is based on more than one antibody, the reliability score for the data is reported as "Reliability (APE)" (color-coding described here). If the data is based on one automatically selected antibody (best IF score among available antibodies), the IF validation score for that antibody is reported as Reliability (selected) (color-coding described here).
The image to the left is a representative image for the subcellular location of the protein.
The "More Subcell Data"-button can be used to access the Subcellular location view, with more detailed information on the subcellular location of the protein in different cell lines, including all images. |
Pending subcellular analysis |
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NORMAL TISSUE & ORGAN SUMMARY
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The normal tissue & organ summary section shows a summary of the antibody staining or the protein expression in a number of human tissues and organs. A description of the assay and annotation can be found here. A summary text summarizes the protein expression/antibody staining data.
The normal tissue profile gives the number of cell types with expression/staining out of the total number of analysed cell types. The summary data can be based on one or more antibodies (reported by the "Antibodies in assay"-field). If the data is based on one single antibody, the IH validation score for that antibody is reported as "Reliability (Single)" (color-coding described here). If the data is based on more than one antibody, the reliability score for the data is reported as "Reliability ( APE)" (color-coding described here).
If the normal tissue & organ summary section is in yellow color scale, the values represent antibody staining from one single antibody. If the section is in blue scale, the values represent knowledge-based annotated protein expression based on two or more antibodies.
The analysed normal tissues are grouped into organs, and the number of annotated cell types for each organ type is given, followed by the annotated protein expression (blue color scale) or antibody staining (yellow color scale) in the annotated cell types. The intensity of the color represents the relative level of expression/staining, as described by the scale in the box to the right. In the bars, the fraction of the protein expression/antibody staining with certain intensity represents the percentage of the analysed cell types with that relative expression/staining.
In the example above ( ELF3), there are ten cell types annotated for female tissues. Two of the cell types have an annotated high level of protein expression. One of the cell types has medium level of protein expression and one cell type has a low level of protein expression, while the remaining six cell types do not express this protein.
The image to the left is a representative image for the antibody staining.
The "More Tissue Data"-button can be used to access the Normal tissue view, with detailed protein expression/antibody staining data on cell type level, including links to all annotated images.
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Show image »
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Staining summary |
Most of the normal tissues displayed moderate cytoplasmic positivity with a granular pattern. Strong staining was observed in lung macrophages, stomach, gall bladder, adrenal gland, prostate and Leydig cells. Pneumocytes, squamous epithelia, skin, glial cells, cerebellum and lymphoid tissues were negative. |
Tissue specificity |
Staining in 36 out of 79 cell types |
Reliability (Single) |
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Antibodies in assay |
HPA054583 |
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Organ |
No of cell types |
Antibody staining |
| CNS (brain) |
11 |
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| Hematopoietic (blood) |
8 |
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| Liver and pancreas |
5 |
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| Digestive (GI-tract) |
12 |
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| Respiratory (lung) |
4 |
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| Cardiovascular |
1 |
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| Female tissues |
13 |
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| Placenta |
1 |
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| Male tissues |
5 |
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| Urinary tract (kidney) |
3 |
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| Skin and soft tissues |
13 |
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| Endocrine tissues |
3 |
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Level of antibody staining
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Strong Moderate Weak Negative |
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CANCER TISSUE SUMMARY
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The cancer tissue summary section shows a summary of antibody staining in numerous different cancer tissues. A description of the assay and annotation can be found here. The staining summary reports the percent of analysed samples where antibody staining could be detected. For each cancer tissue, the relative level of antibody staining for the analysed samples using the available antibodies is reported in the antibody staining bar (as described by the scale in the box to the right). To the right of the bar is the antibody staining (if yellow color scale)/annotated protein expression (if blue color scale) for the corresponding normal cell types. For malignant melanoma and ovary cancer there are no corresponding normal cell types.
The "More Cancer Data"-button can be used to access the Cancer tissue view, with detailed antibody staining data for each analysed cancer sample, including links to all annotated images.
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Staining summary |
Antibody staining in 29% of the cancers |
Antibodies in assay |
HPA054583 |
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Tissue |
Cancer staining |
Normal tissue staining |
| Breast cancer |
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| Carcinoid |
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| Cervical cancer |
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| Colorectal cancer |
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| Endometrial cancer |
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| Glioma |
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| Head and neck cancer |
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| Liver cancer |
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| Lung cancer |
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| Lymphoma |
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Tissue |
Cancer staining |
Normal tissue staining |
| Melanoma |
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| Ovarian cancer |
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| Pancreatic cancer |
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| Prostate cancer |
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| Renal cancer |
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| Skin cancer |
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| Stomach cancer |
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| Testis cancer |
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| Thyroid cancer |
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| Urothelial cancer |
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Level of antibody staining
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Strong Moderate Weak Negative |
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CELL LINE SUMMARY
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The cell line summary section reports RNA-seq data and antibody staining for eleven human cell lines of different origin. The RNA abundance in each of the cell lines is reported using FPKM levels. The "More RNA Data"-button under the RNA column can be used to access the RNA page with more detailed RNA data.
The level of immunohistochemistry staining of the cell lines (two samples per cell line and antibody) is reported using a yellow color scale (levels described by the color scale in the box to the right). A description of the assay and the annotation can be found here. The "More IH Data"-button under the IH staining column can be used to access the Cell line page with antibody staining data and links to images for numerous different cell lines.
The intensity of the immunofluorescent staining per cell line and antibody is reported as IF intensity, using the same color scale as for the immunohistochemisty staining. A description of the assay and the annotation can be found here. The "More IF Data"-button under the IF intensity column can be used to access the Subcellular location page with more detailed data, including images.
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Cell line |
Cell origin |
RNA abundance |
IH staining |
IF intensity |
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HPA054583 |
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| A-431 |
Skin |
High |
| - |
| A-549 |
Lung |
High |
| - |
| CACO-2 |
Colon |
High |
| - |
| HEK 293 |
Embryonal kidney |
High |
| - |
| HeLa |
Cervix |
High |
| - |
| Hep-G2 |
Liver |
High |
| - |
| MCF-7 |
Pleural effusion |
High |
| - |
| PC-3 |
Bone marrow |
Not detected |
| - |
| RT-4 |
Urinary bladder |
High |
| - |
| U-2 OS |
Bone |
High |
| - |
| U-251 MG |
Brain |
High |
| - |
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ANTIBODY SUMMARY
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The antibody summary section shows the antibodies that have been used for the antibody-based assays. Their clonality (pAb = polyclonal, mAb = monoclonal, msAb = monospecific) is given, together with the validation score for each performed assay (IH = immunohistochemistry, IF = immunofluorescence, WB = Western blot, PA = protein array).
The validation procedure and color codes are explained here.
The "Also mapped to"-column is displayed if the antigen used for the generation of the antibody has >=80% sequence identity to a protein from another gene. If so, a link is given to the other matched gene(s) in the Human Protein Atlas. The maximum sequence identity (%) of the antigen to the matched protein(s) encoded by that gene is given in parenthesis.
The "More Antibody Data"-button can be used to access the Antibody/Antigen view, with more detailed validation results.
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Antibody |
Clonality |
Validation |
| HPA054583 |
pAb |
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