Cell type atlas - SMCHD1 - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.

SMCHD1

SUMMARY

TISSUE

CELL TYPE

PATHOLOGY

BRAIN

BLOOD

CELL

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.	SMCHD1
Gene descriptionⁱ Full gene name according to HGNC.	Structural maintenance of chromosomes flexible hinge domain containing 1
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s). Read more	Disease related genes
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.	2

HUMAN PROTEIN ATLAS INFORMATIONⁱ Summary of RNA expression and protein localization based on data generated within the Human Protein Atlas project.
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. Read more	Low cell type specificity
Blood 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. Read more	Cell type enriched (neutrophil)
Blood cell distributionⁱ The RNA distribution category is based on mRNA expression levels in the analyzed samples based on data from HPA. The categories include: detected in all, detected in many, detected in some, detected in single and not detected. Read more	Detected in many
Cell line 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
Cell line 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

SINGLE CELL TYPESⁱ A summary of single cell RNA (NX) from all single cell types. Color-coding is based on cell type groups, each consisting of cell types with functional features in common.
Single cell types Group Expression Alphabetical RNA single cell type specificity: Low cell type specificity

SINGLE CELL TISSUESⁱ Single cell RNA in cell types from tissue are shown separately for each analyzed tissue. For easier navigation across tissues, use the grey browser on the left side of the window. Barchart shows pTPM levels in each cluster of single cells. To the left, a UMAP plot illustrates the RNA expression profile. The tissue name and plots are clickable and redirect to a more detailed interactive page. Color-coding is based on cell type groups, each consisting of cell types with functional features in common. Please note that the same cell type may be found in several clusters.
Cluster Expression Alphabetical Colon
Cluster Expression Alphabetical Eye
Cluster Expression Alphabetical Heart muscle
Cluster Expression Alphabetical Kidney
Cluster Expression Alphabetical Liver
Cluster Expression Alphabetical Lung
Cluster Expression Alphabetical Pancreas
Cluster Expression Alphabetical Placenta
Cluster Expression Alphabetical Prostate
Cluster Expression Alphabetical Rectum
Cluster Expression Alphabetical Skin
Cluster Expression Alphabetical Small intestine
Cluster Expression Alphabetical Testis

BLOODⁱ

Single cell data

Cluster

Expression

Alphabetical

PBMC

Flow sorted data

Lineage

Expression

Alphabetical

CELL LINESⁱ RNA expression data (NX) of tissue culture cell lines.The analyzed cell lines are divided into 16 color-coded groups according to the organ they were obtained from. Detailed information about a specific cell line is revealed by hovering over the corresponding bar in the chart. The chart is clickable and redirects to more Cell Atlas data. Read more
Organ Expression Alphabetical

Alveolar cells type 1	42 NX
Lung	42 NX

Alveolar cells type 2	47 NX
Lung	47 NX

B-cells	107 NX
Colon	218 NX
Liver	107 NX
Kidney	67 NX

Basal glandular cells	34 NX
Prostate	34 NX

Basal keratinocytes	24 NX
Skin	24 NX

Bipolar cells	89 NX
Eye	89 NX

Cardiomyocytes	44 NX
Heart muscle	44 NX

Cholangiocytes	13 NX
Liver	13 NX

Ciliated cells	23 NX
Lung	23 NX

Club cells	35 NX
Lung	35 NX

Collecting duct cells	17 NX
Kidney	17 NX

Cone photoreceptor cells	94 NX
Eye	94 NX

Cytotrophoblasts	30 NX
Placenta	30 NX

Distal tubular cells	5 NX
Kidney	5 NX

Ductal cells	20 NX
Pancreas	20 NX

Early spermatids	88 NX
Testis	88 NX

Endothelial cells	41 NX
Heart muscle	73 NX
Prostate	71 NX
Eye	59 NX
Testis	44 NX
Skin	39 NX
Lung	32 NX
Liver	29 NX
Placenta	23 NX
Pancreas	14 NX

Enterocytes	49 NX
Colon	104 NX
Rectum	79 NX
Small intestine	35 NX

Erythroid cells	23 NX
Liver	23 NX

Exocrine glandular cells	17 NX
Pancreas	17 NX

Extravillous trophoblasts	20 NX
Placenta	20 NX

Fibroblasts	32 NX
Lung	72 NX
Prostate	61 NX
Heart muscle	37 NX
Skin	32 NX
Placenta	25 NX

Glandular cells	43 NX
Prostate	43 NX

Granulocytes	38 NX
Lung	58 NX
Colon	18 NX

Hepatocytes	14 NX
Liver	14 NX

Hofbauer cells	17 NX
Placenta	17 NX

Horizontal cells	94 NX
Eye	94 NX

Intestinal endocrine cells	22 NX
Colon	27 NX
Rectum	16 NX

Ito cells	29 NX
Liver	29 NX

Kupffer cells	69 NX
Liver	69 NX

Late spermatids	27 NX
Testis	27 NX

Leydig cells	39 NX
Testis	39 NX

Macrophages	62 NX
Prostate	72 NX
Testis	71 NX
Lung	71 NX
Kidney	57 NX
Skin	51 NX
Pancreas	42 NX

Melanocytes	29 NX
Skin	29 NX

Mixed cell types	NX
Pancreas	NX

Mixed immune cells	NX
Heart muscle	NX

Monocytes	64 NX
Pancreas	64 NX

Mucus-secreting cells	30 NX
Small intestine	40 NX
Colon	33 NX
Rectum	26 NX

Muller glia cells	37 NX
Eye	37 NX

Pancreatic endocrine cells	21 NX
Pancreas	21 NX

Paneth cells	60 NX
Colon	78 NX
Small intestine	60 NX
Rectum	25 NX

Peritubular cells	36 NX
Testis	36 NX

Proximal tubular cells	6 NX
Kidney	6 NX

Rod photoreceptor cells	92 NX
Eye	92 NX

Sertoli cells	39 NX
Testis	39 NX

Smooth muscle cells	36 NX
Prostate	65 NX
Heart muscle	63 NX
Skin	34 NX
Pancreas	21 NX

Spermatocytes	85 NX
Testis	85 NX

Spermatogonia	79 NX
Testis	79 NX

Suprabasal keratinocytes	22 NX
Skin	22 NX

Syncytiotrophoblasts	39 NX
Placenta	39 NX

T-cells	79 NX
Colon	191 NX
Prostate	187 NX
Skin	158 NX
Lung	79 NX
Kidney	78 NX
Liver	59 NX

Undifferentiated cells	26 NX
Colon	28 NX
Rectum	26 NX
Small intestine	23 NX

Urothelial cells	41 NX
Prostate	41 NX

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.