Cell atlas - HMBS - The Human Protein Atlas

GENERAL INFORMATIONⁱ General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene nameⁱ Official gene symbol, which is typically a short form of the gene name, according to HGNC.	HMBS
Gene descriptionⁱ Full gene name according to HGNC.	Hydroxymethylbilane synthase
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s). Read more	Disease related genes Enzymes Plasma proteins Potential drug targets
Predicted locationⁱ All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions. Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached. Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s). The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location. Read more	Intracellular
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	11

HUMAN PROTEIN ATLAS INFORMATIONⁱ Summary of RNA expression and protein localization based on data generated within the Human Protein Atlas project.
Summaryⁱ Annotated subcellular location(s) for the encoded protein(s) based on the human cells assay. The location(s) are highlighted in the illustration on the right.	Localized to the lipid droplets.
RNA cell specificityⁱ RNA specificity category based on RNA sequencing data from all cell lines in the Human Protein Atlas. Genes are classified into six different categories (enriched, group enriched, enhanced, low specificity and not detected) according to their RNA expression levels across the panel of cell lines.	Low cell line specificity
RNA cell distributionⁱ RNA distribution category based on RNA sequencing data from all cell lines in the Human Protein Atlas. Genes are classified into five different categories (detected in all, detected in many, detected in some, detected in single and not detected) according to their pattern of detected RNA expression across the panel of cell lines.	Detected in all
Protein evidenceⁱ Evidence score for genes based on UniProt protein existence (UniProt evidence); a Human Protein Atlas antibody- or RNA based score (HPA evidence); and evidence based on PeptideAtlas (MS evidence). The avaliable scores are evidence at protein level, evidence at transcript level, no evidence, or not avaliable. Read more	Evidence at protein level
Main locationⁱ Main subcellular location(s) and reliability score(s) for the encoded protein(s) in human cells. The main location(s) may be characterized by presence in all tested cell lines and/or ihigher staining intensity compared to the potential additional location(s). If available, links to overrepresentation analyses in Reactome, a free, open-source, curated and peer reviewed biological pathway database, are provided. An analysis is done for the corresponding gene set of the proteome localizing to the main and additional locations of the protein on this page, respectively. Read more	Localized to the Lipid droplets (approved)
Mouseⁱ Subcellular location for the protein(s) encoded by orthologous genes in mouse cells.	Localized to the Lipid droplets in mouse cells.

SINGLE CELL VARIATIONⁱ Summary of single cell variations on RNA and protein level based on data generated within the Human Protein Atlas project.
Single-cell variationⁱ Single-cell variations of protein expression or distribution observed within single images in human cells. Variation in protein expression levels can be observed as varaiations in the intensity of the immunofluorescent signal, while spatial variations can be observed asvariations in subcellular distribution of the protein. Read more	Single-cell variation in protein expression observed.
Cell cycle dependencyⁱ Cell-cycle dependance of single-cell varations in RNA and/or protein expression as observed in an additional assay for characterizing single-cell varations. "NA" indicates a lack of such data. Read more	NA

DATA RELIABILITYⁱ Overall reliability score for the subcellular location(s) of the protein(s) in human cells, and summary of the antibodies used for immunostainings. Read more
Reliability scoreⁱ Overall gene reliability score for the subcellular location(s) of the encoded protein(s). A reliability score is set for all genes and indicates the level of reliability of the analyzed protein expression pattern based on available protein/RNA/gene characterization data. The reliability of the annotated protein expression data is also scored depending on similarity in immunostaining patterns and consistency with available experimental gene/protein characterization data in the UniProtKB/Swiss-Prot database. Read more	Approved
Antibodiesⁱ Antibodies used for this assay. Click on an antibody for more information.	HPA050659
	SHOW MORE

ASSAYSⁱ

RNA expression

Human cells

Mouse cells

RNA EXPRESSION OVERVIEWⁱ

RNA cell line categoryⁱ
RNA specificity category based on RNA sequencing data from all cell lines in the Human Protein Atlas. Genes are classified into six different categories (enriched, group enriched, enhanced, low specificity and not detected) according to their RNA expression levels across the panel of cell lines.

Read more
: Low cell line specificity

Organ

Origin

Category

Expression

Alphabetical

Cell lines ordered by organ of phenotypic resemblance.

HUMAN CELLSⁱ

Summaryⁱ

Localized to the lipid droplets.

Main locationⁱ

Lipid droplets (approved)


	Toggle channelsⁱ Buttons for turning on and off the different channels in the multi-color images. The intensity toggle shows the pixel intensity range in 16 different colors for the selected channel. The object toggle shows the computational segmentation of the cells used for further analysis in the HPA project. For samples where cell cycle dependency for the protein is suggested according to a correlation assay the predicted cell cycle position of each cell is displayed when using the object toggle.	Low High

Antibodyⁱ Antibody used for analysis. Clicking the antibody ID links to the antibody validation page.	Cell lineⁱ Cell line used for analysis. Read more about the cell lines in the Human Protein Atlas.	Cell line RNA Expression (NX)ⁱ RNA expression level in the cell line based on normalised RNA sequencing data. Genes with a value above 1 NX are considered to be expressed. Read more	Locationⁱ Observed subcellular location(s).	Single-cell variationⁱ observed single-cell variation(s) in the staining pattern. Variation in protein expression levels can be observed as varaiations in the intensity of the immunofluorescent signal, while spatial variations can be observed asvariations in subcellular distribution of the protein. Read more
HPA050659	A-431	9.2	Lipid droplets	Intensity
HPA050659	U-2 OS	6.3	Lipid droplets	Intensity
HPA050659	U-251 MG	8.6	Lipid droplets	Intensity

SINGLE CELL VARIATIONⁱ Assays for determining cell cycle dependency of RNA and protein expression, based on stainings in the U-2 OS FUCCI (Fluorescence Ubiquitination Cell Cycle Indicator) cell line, or a computational model for cell cycle position, or localization to cell cycle dependent compartments (e.g. mitotic spindle, cytokinetic bridge). Read more
Summaryⁱ Summary of observed cell cycle dependency of RNA and/or protein expression. "NA" indicates a lack of such data. Read more	NA

MOUSE CELLSⁱ

Main locationⁱ

Lipid droplets

Mouse geneⁱ

ENSMUSG00000032126 (version 92)


	Toggle channelsⁱ Buttons for turning on and off the different channels in the multi-color images. The intensity toggle shows the pixel intensity range in 16 different colors for the selected channel. The object toggle shows the computational segmentation of the cells used for further analysis in the HPA project. For samples where cell cycle dependency for the protein is suggested according to a correlation assay the predicted cell cycle position of each cell is displayed when using the object toggle.	Low High

Thumbnailⁱ Minatures of all available images. The checkboxes can be used to select which three images to compare in the window above. All images are also clickable for an enlarged view. The selected image will appear in large size and miniature images with all other staining results for this gene will be listed at the top left of the image. The selected miniature image has an orange overlay.	Antibodyⁱ Antibody used for analysis. Clicking the antibody ID links to the antibody validation page.	Cell lineⁱ Cell line used for analysis. Read more about the cell lines in the Human Protein Atlas.	Locationⁱ Observed subcellular location(s).
	HPA050659	NIH 3T3	Lipid droplets