DAG1 protein expression summary - The Human Protein Atlas

DAG1

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DAG1

DAG1 INFORMATION
Proteinⁱ Full gene name according to HGNC.	Dystroglycan 1
Gene nameⁱ Official gene symbol, which is typically a short form of the gene name, according to HGNC.	DAG1 (156DAG, A3a, AGRNR, DAG)
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s).	Disease related genes Housekeeping proteins Human disease related genes Plasma proteins Potential drug targets Transporters
Protein evidence	Evidence at protein level (all genes)
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	14
Protein interactions	Interacting with 1 protein

DAG1 AI GENERATED INFOGRAPHICⁱ This infographic was generated by AI (Gemini) using only data presented in the Human Protein Atlas v25. It is a quick overview and may contain errors or simplifications, so please check the full data on this gene page before drawing conclusions. Read more

PROTEIN EXPRESSION AND LOCALIZATION
Tissue profileⁱ A summary of the overall protein expression profile across the analyzed normal tissues based on knowledge-based annotation, presented in the Tissue resource. "Estimation of protein expression could not be performed. View primary data." is shown for genes where available RNA-seq and gene/protein characterization data in combination with immunohistochemistry data has been evaluated as not sufficient to yield a reliable estimation of the protein expression profile.	Cytoplasmic and membranous expression mainly in placental trophoblasts, skeletal and heart muscle fibers.
Tissue specificity (MS)	Tissue enhanced (Heart muscle)
Cell type specificity (DVP)	Low cell type specificity
Subcellular locationⁱ Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.	Localized to the Vesicles, Plasma membrane In addition localized to the Nucleoplasm
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.	Secreted, Membrane (different isoforms)
Extracellular locationⁱ All genes with at least one isoform expected to be secreted to the extracellular environment have been annotated and classified either as secreted to blood or as locally secreted, depending on the predicted final location of the corresponding protein. Proteins expected to be locally secreted have been further classified according to their site of expression.	Secreted to extracellular matrix

TISSUE RNA EXPRESSION
Tissue specificityⁱ The RNA specificity category is based on normalized mRNA expression levels in the consensus dataset, calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.	Low tissue specificity
Tissue expression clusterⁱ The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.	Non-specific - Basic cellular processes (mainly)
Brain specificityⁱ The regional specificity category is based on mRNA expression levels in the analysed brain samples, grouped into 13 main brain regions and calculated for the three different species. All brain expression profiles are based on data from HPA. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category	Low domain specificity
Brain expression clusterⁱ The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.	Astrocytes - Mixed function (mainly)
Isoform expression categoryⁱ The expression category reflects the overall expression pattern for the gene based on expression profiles for all individual isoforms. Read more	Many expressed
Evolutionary conservation categoryⁱ Conservation category is a categoric annotation that intends to capture the available pairwise species overlap annotations into one metric. The categories range from: Complete, Partial and Minimal Conservation for conserved genes; and Tissue elevation shift, human specific tissue elevated, Non-Human tissue elevated, Human specific detected and Human not detected for non conserved genes.	Complete conservation (Low tissue specificity)

CELL TYPE RNA EXPRESSION
Single cell type specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.	Low cell type specificity
Single cell type expression clusterⁱ The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.	Skeletal myocytes - Muscle excitation & contraction (mainly)
Bulk RNA deconvolution classificationⁱ Genes can have enriched specificity in different cell types in one or several tissues, or be enriched in a core cell type that appears in many different tissues.	Cell type enriched (Adrenal gland - Adrenal cortex cells, Prostate - Smooth muscle cells, Thyroid gland - Thyroid glandular cells)
Immune cell specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed samples based on data from HPA. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.	Low immune cell specificity
Immune cell expression clusterⁱ The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.	Non-specific - Unknown function (mainly)

CANCER & CELL LINES
Cancer specificity (RNA)ⁱ Specificity of RNA expression (TCGA dataset) across 21 cancer types is categorized as either cancer enriched, group enriched, cancer enhanced, low cancer specificity or not detected.	Low cancer specificity
Cancer specificity (Protein)ⁱ Specificity of protein abundance in tumor samples from 25 cancer types, measured by mass spectrometry (ProteinTalks DB dataset), is categorized as cancer enriched, group enriched, cancer enhanced, low cancer specificity or not detected.	Low cancer specificity
Cell line expression clusterⁱ The RNA data was used to cluster genes according to their expression across cell lines. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.	Skin cancer - ECM organization (mainly)
Cell line specificityⁱ RNA specificity category based on RNA sequencing data from cancer cell lines in the Human Protein Atlas grouped according to type of cancer. 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 cancer specificity

PROTEINS IN BLOOD
Secretome annotationⁱ All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are: secreted into blood locally secreted or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.	Secreted to extracellular matrix
Detected in blood by immunoassayⁱ The blood-based immunoassay category applies to actively secreted proteins and is based on plasma or serum protein concentrations established with enzyme-linked immunosorbent assays, compiled from a literature search. The categories include: detected and not detected, where detection refers to a concentration found in the literature search.	No (not applicable)
Detected in blood by mass spectrometryⁱ Detection or not of the gene in blood, based on spectral count estimations from a publicly available mass spectrometry-based plasma proteomics dataset obtained from the PeptideAtlas.	Yes
Proximity extension assayⁱ Indicates whether the protein has been measured (Data available) or not (Not available) using the Olink Explore HT proximity extension assay platform.	Data available
SomaScanⁱ Indicates whether the protein has been measured (Data available) or not (Not available) using the SomaScan 11K platform.	Data available

PROTEIN FUNCTION
Protein function (UniProt)ⁱ Useful information about the protein provided by UniProt.	The dystroglycan complex is involved in a number of signaling events and processes including laminin deposition and extracellular matrix assembly, acetylcholine receptor clustering, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, epithelial polarization, and epithelium branching morphogenesis (By similarity). Required for the formation of photoreceptor ribbon synapses, and long-term maintenance of inhibitory synapses in cerebellar Purkinje cells (By similarity). Also involved in the positive regulation of cartilage formation through agrin (AGRN) binding and up-regulation of SOX9, a transcription factor that plays a key role in chondrocytes differentiation 1.... show less
Molecular function (UniProt)ⁱ Keywords assigned by UniProt to proteins due to their particular molecular function.	Host cell receptor for virus entry, Receptor
Biological process (UniProt)ⁱ Keywords assigned by UniProt to proteins because they are involved in a particular biological process.	Host-virus interaction
Gene summary (Entrez)ⁱ Useful information about the gene from Entrez	This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]... show less

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