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HMGCS1
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                                • HMGCS1
                                TISSUE PRIMARY DATA TISSUES Show tissue menu
                                ADIPOSE TISSUE ADRENAL GLAND AMYGDALA APPENDIX BASAL GANGLIA BONE MARROW BREAST BRONCHUS CEREBELLUM CEREBRAL CORTEX CERVIX CHOROID PLEXUS COLON DUODENUM ENDOMETRIUM
                                EPIDIDYMIS ESOPHAGUS FALLOPIAN TUBE GALLBLADDER HEART MUSCLE HIPPOCAMPAL FORMATION HYPOTHALAMUS KIDNEY LIVER LUNG LYMPH NODE MEDULLA OBLONGATA MIDBRAIN NASOPHARYNX ORAL MUCOSA
                                OVARY PANCREAS PARATHYROID GLAND PITUITARY GLAND PLACENTA PONS PROSTATE RECTUM RETINA SALIVARY GLAND SEMINAL VESICLE SKELETAL MUSCLE SKIN SMALL INTESTINE SMOOTH MUSCLE
                                SOFT TISSUE SPINAL CORD SPLEEN STOMACH TESTIS THALAMUS THYMUS THYROID GLAND TONGUE TONSIL URINARY BLADDER VAGINA WHITE MATTER
                                ANTIBODIES
                                AND
                                VALIDATION
                                Dictionary
                                Tissue proteome
                                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.

                                HMGCS1
                                Gene descriptioni

                                Full gene name according to HGNC.

                                3-hydroxy-3-methylglutaryl-CoA synthase 1
                                Protein classi

                                Assigned HPA protein class(es) for the encoded protein(s).

                                Read more
                                Enzymes
                                Metabolic proteins
                                Plasma proteins
                                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.

                                3
                                HUMAN PROTEIN ATLAS INFORMATIONi

                                Summary of data presented in the Tissue section, with a representative image of protein expression (left) and an interactive chart showing the tissue-specific mRNA expression (right). The image and the chart are clickable and will redirect to more Tissue data.
                                This section contains information regarding the expression profiles of protein-coding genes in normal human tissue, both on the mRNA and protein level. The protein expression data is derived from antibody-based protein profiling using immunohistochemistry.

                                Read more
                                Tissue expression
                                cluster (RNA)i

                                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.

                                Read more
                                Liver - Metabolism (mainly)
                                Tissue specificity (RNA)i

                                The RNA specificity category is based on mRNA expression levels in the consensus dataset which is 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.

                                Read more
                                Tissue enhanced (liver)
                                Tau specificity score (RNA)i

                                Tau specificity score is a numerical indicator of the specificity of the gene expression across cells or tissues. The value ranges from 0 and 1, where 0 indicates identical expression across all cells/tissue types, while 1 indicates expression in a single cell/tissue type.

                                Read more
                                0.42
                                Tissue distribution (RNA)i

                                The RNA distribution category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA and GTEX. The categories include: detected in all, detected in many, detected in some, detected in single and not detected.

                                Read more
                                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
                                Protein expressioni

                                A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation.

                                "Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile.
                                Read more
                                Cytoplasmic and nuclear expression of varying intensity in selected tissues.

                                IMMUNOHISTOCHEMISTRY DATA RELIABILITY
                                Data reliability
                                descriptioni

                                Standardized explanatory sentences with additional information required for full understanding of the protein expression profile, based on knowledge-based and secretome-based annotation.

                                Low consistency between antibody staining and RNA expression data. Pending external verification.
                                Reliability scorei

                                A reliability score is manually set for all genes and indicates the level of reliability of the analyzed protein expression pattern based on available RNA-seq data, protein/gene characterization data and immunohistochemical data from one or several antibodies with non-overlapping epitopes. The reliability score is based on the 44 normal tissues analyzed, and if there is available data from more than one antibody, the staining patterns of all antibodies are taken into consideration during evaluation.

                                The reliability score is divided into Enhanced, Supported, Approved, or Uncertain, and is displayed on both Tissue Atlas and Pathology Atlas.

                                Read more
                                Approved
                                Antibodiesi

                                Antibodies used for this assay. Click on an antibody for more information.

                                HPA036913 , HPA036914 , CAB032907
                                SHOW MORE
                                ASSAYSi

                                Links to data of the different assays available in the Tissue section of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

                                Protein expression Expression clustering
                                Cerebral cortexCerebellumChoroid plexusBasal gangliaThalamusHypothalamusMidbrainPonsMedulla oblongataHippocampal formationSpinal cordWhite matterAmygdalaRetinaThyroid glandParathyroid glandAdrenal glandPituitary glandLungSalivary glandEsophagusTongueStomachDuodenumSmall intestineColonRectumLiverGallbladderPancreasKidneyUrinary bladderTestisEpididymisSeminal vesicleProstateVaginaOvaryFallopian tubeEndometriumCervixPlacentaBreastHeart muscleSmooth muscleSkeletal muscleAdipose tissueSkinAppendixSpleenLymph nodeTonsilBone marrowThymus0100200300400
                                RNA expression
                                RNA AND PROTEIN EXPRESSION SUMMARYi

                                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 the group name, group symbol, RNA bar, or protein bar. Subsequent selection of a particular tissue in this list links to the image data page.

                                The IHC image panel to the right display selected tissues that give a visual summary of the protein expression profile.

                                To the left, the two human bodies provide an anatomical display of the expression levels and detection of mRNA in the analyzed organs. Toggle between these two views by clicking on the buttons between the figures.

                                image/svg+xml leukocyte artery B cell T cell natural killer cell monocyte platelet hippocampus oral cavity tongue retina
                                Expression
                                Detection
                                All organs
                                image/svg+xml human body features 2009-05-27 Sjef text : Kevin (tsaitgaist) REDON http://commons.wikimedia.org/wiki/File:Human_body_features.svg leukocyte hippocampus nasal septum oral cavity prostate gland
                                RNA expression (nTPM)i

                                RNA expression summary shows the consensus data based on normalized expression (nTPM) values from two different sources: internally generated Human Protein Atlas (HPA) RNA-seq data and RNA-seq data from the Genotype-Tissue Expression (GTEx) 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.

                                Read more
                                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.

                                Read more
                                Brain
                                Amygdala
                                N/A
                                Basal ganglia
                                Thalamus
                                N/A
                                Midbrain
                                N/A
                                Pons
                                N/A
                                Medulla oblongata
                                N/A
                                Hippocampal formation
                                Spinal cord
                                N/A
                                White matter
                                N/A
                                Cerebral cortex
                                Cerebellum
                                Choroid plexus
                                N/A
                                Hypothalamus
                                N/A
                                Eye
                                Retina
                                N/A
                                Endocrine tissues
                                Thyroid gland
                                Parathyroid gland
                                Adrenal gland
                                Pituitary gland
                                N/A
                                Respiratory system
                                Nasopharynx
                                N/A
                                Bronchus
                                N/A
                                Lung
                                Proximal digestive tract
                                Oral mucosa
                                N/A
                                Salivary gland
                                Esophagus
                                Tongue
                                N/A
                                Gastrointestinal tract
                                Stomach
                                Small intestine
                                Colon
                                Rectum
                                Duodenum
                                Liver & Gallbladder
                                Liver
                                Gallbladder
                                Pancreas
                                Pancreas
                                Kidney & Urinary bladder
                                Kidney
                                Urinary bladder
                                Male tissues
                                Testis
                                Epididymis
                                Prostate
                                Seminal vesicle
                                Female tissues
                                Endometrium
                                Vagina
                                Breast
                                Cervix
                                Fallopian tube
                                Ovary
                                Placenta
                                Muscle tissues
                                Heart muscle
                                Skeletal muscle
                                Smooth muscle
                                Connective & Soft tissue
                                Soft tissue
                                N/A
                                Adipose tissue
                                Skin
                                Skin
                                Bone marrow & Lymphoid tissues
                                Bone marrow
                                Appendix
                                Thymus
                                N/A
                                Spleen
                                Lymph node
                                Tonsil
                                Cerebral cortex

                                Colon

                                Liver

                                Kidney

                                Testis

                                Lymph node

                                PROTEIN EXPRESSION OVERVIEWi

                                Protein expression data is shown for each of the 44 tissues based on knowledge-based annotation. 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.
                                Organ
                                Expression
                                Alphabetical
                                Cerebral cortexCerebellumHippocampusCaudateThyroid glandParathyroid glandAdrenal glandNasopharynxBronchusLungOral mucosaSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumLiverGallbladderPancreasKidneyUrinary bladderTestisEpididymisSeminal vesicleProstateVaginaOvaryFallopian tubeEndometriumCervixPlacentaBreastHeart muscleSmooth muscleSkeletal muscleSoft tissueAdipose tissueSkinAppendixSpleenLymph nodeTonsilBone marrowNotdetectedLowMediumHighScore
                                EXPRESSION CLUSTERING & CORRELATIONi

                                The RNA data was used to cluster genes according to their expression across samples. The resulting clusters have been manually annotated to describe common features in terms of function and specificity. The annotation of the cluster is displayed together with a confidence score of the gene's assignment to the cluster. The confidence is calculated as the fraction of times the gene was assigned to this cluster in repeated calculations and is reported between 0 to 1, where 1 is the highest possible confidence. The clustering results are shown in a UMAP, where the cluster this gene was assigned to is highlighted as a colored area in which most of the cluster genes reside. A table shows the 15 most similar genes in terms of expression profile.

                                Read more
                                HMGCS1 is part of cluster 85 Liver - Metabolism with confidencei

                                Confidence is the fraction of times a gene was assigned to the cluster in repeated clustering, and therefore reflects how strongly associated it is to the cluster. A confidence of 1 indicates that the gene was assigned to this cluster in all repeated clusterings.

                                Read more
                                0.42
                                354 genes in cluster
                                Go to interactive expression cluster page
                                15 nearest neighbours based on tissue RNA expression
                                Neighbouri

                                Gene name according to HGNC.

                                Descriptioni

                                Gene description according to HGNC.

                                Correlationi

                                Correlation between the selected gene and neighboring gene. Correlation is calculated as Spearman correlation in PCA space based on the RNA-seq expression data.

                                Read more
                                Clusteri

                                ID of the expression cluster of the neighboring gene.

                                Read more
                                EBP EBP cholestenol delta-isomerase 0.9544 85
                                FDPS Farnesyl diphosphate synthase 0.9404 37
                                SIGMAR1 Sigma non-opioid intracellular receptor 1 0.9386 85
                                ELOVL6 ELOVL fatty acid elongase 6 0.9351 37
                                HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 0.9351 37
                                MGST2 Microsomal glutathione S-transferase 2 0.9175 37
                                MSMO1 Methylsterol monooxygenase 1 0.9123 85
                                SLC16A13 Solute carrier family 16 member 13 0.9105 85
                                BDH1 3-hydroxybutyrate dehydrogenase 1 0.9035 85
                                DHRS1 Dehydrogenase/reductase 1 0.8947 37
                                GCHFR GTP cyclohydrolase I feedback regulator 0.8930 85
                                TST Thiosulfate sulfurtransferase 0.8860 85
                                FRRS1 Ferric chelate reductase 1 0.8860 85
                                PCSK9 Proprotein convertase subtilisin/kexin type 9 0.8842 85
                                IL17RC Interleukin 17 receptor C 0.8825 85
                                RNA EXPRESSION OVERVIEWi

                                RNA expression overview shows RNA-data from two different sources: Internally generated Human Protein Atlas (HPA) RNA-seq data and RNA-seq data from the Genotype-Tissue Expression (GTEx) project, as well as the consensus dataset which is based on a combination of both sources. 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.

                                Read more
                                Consensus dataseti

                                The consensus dataset consists of normalized expression (nTPM) levels for 55 tissue types, created by combining the HPA and GTEx transcriptomics datasets using the internal normalization pipeline. 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.

                                Read more about how the datasets were combined into consensus normalized expression levels in <a href="/about/assays+annotation#normalization_rna"_blank">Assays & Annotation.

                                Read more
                                Organ
                                Expression
                                Alphabetical
                                RNA tissue specificity: Tissue enhanced (liver)
                                Cerebral cortexCerebellumChoroid plexusBasal gangliaThalamusHypothalamusMidbrainPonsMedulla oblongataHippocampal formationSpinal cordWhite matterAmygdalaRetinaThyroid glandParathyroid glandAdrenal glandPituitary glandLungSalivary glandEsophagusTongueStomachDuodenumSmall intestineColonRectumLiverGallbladderPancreasKidneyUrinary bladderTestisEpididymisSeminal vesicleProstateVaginaOvaryFallopian tubeEndometriumCervixPlacentaBreastHeart muscleSmooth muscleSkeletal muscleAdipose tissueSkinAppendixSpleenLymph nodeTonsilBone marrowThymus0100200300400nTPM
                                HPA dataseti

                                The HPA RNA-seq tissue data is reported as nTPM (normalized protein-coding 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 HPA RNA-seq assay is described in detail in Assays & Annotation.

                                Read more
                                Organ
                                Expression
                                Alphabetical
                                Cerebral cortexCerebellumChoroid plexusBasal gangliaThalamusHypothalamusMidbrainPonsMedulla oblongataHippocampal formationSpinal cordWhite matterAmygdalaThyroid glandParathyroid glandAdrenal glandLungSalivary glandEsophagusTongueStomachDuodenumSmall intestineColonRectumLiverGallbladderPancreasKidneyUrinary bladderTestisEpididymisSeminal vesicleProstateOvaryFallopian tubeEndometriumCervixPlacentaBreastHeart muscleSmooth muscleSkeletal muscleAdipose tissueSkinAppendixSpleenLymph nodeTonsilBone marrowThymus0100200300400nTPM
                                GTEx dataseti

                                The RNA-seq tissue data generated by the Genotype-Tissue Expression (GTEx) project is reported as nTPM (normalized protein-coding 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 GTEx RNA-seq assay is described in detail in Assays & Annotation.

                                Organ
                                Expression
                                Alphabetical
                                RetinaThyroid glandAdrenal glandPituitary glandLungSalivary glandEsophagusStomachSmall intestineColonLiverPancreasKidneyUrinary bladderTestisProstateVaginaOvaryFallopian tubeEndometriumCervixBreastHeart muscleSkeletal muscleAdipose tissueSkinSpleen050100150200nTPM
                                FANTOM EXPRESSION OVERVIEW
                                FANTOM5 dataseti

                                The tissue data for RNA expression obtained through Cap Analysis of Gene Expression (CAGE) generated by the FANTOM5 project are reported as Scaled Tags Per Million. 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 CAGE method is described in detail in Assays & Annotation.

                                Organ
                                Expression
                                Alphabetical
                                Cerebral cortexCerebellumOlfactory bulbPons and medullaCorpus callosumBasal gangliaThalamusMidbrainPonsHippocampal formationSpinal cordAmygdalaRetinaThyroid glandPituitary glandLungSalivary glandEsophagusTongueSmall intestineColonLiverGallbladderPancreasKidneyUrinary bladderDuctus deferensTestisEpididymisSeminal vesicleProstateVaginaOvaryEndometriumCervixPlacentaBreastHeart muscleSmooth muscleSkeletal muscleAdipose tissueAppendixSpleenLymph nodeTonsilThymus050100150200250300Scaled Tags Per Million

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