ALAS1 protein expression summary - The Human Protein Atlas

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ALAS1

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HUMAN PROTEIN ATLAS SUMMARYⁱ 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.
Proteinⁱ Full gene name according to HGNC.	5'-aminolevulinate synthase 1
Gene nameⁱ Official gene symbol, which is typically a short form of the gene name, according to HGNC.	ALAS1 (ALAS, ALAS3)
Tissue specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA, GTEX and FANTOM5. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected. Read more	Tissue enhanced (adrenal gland, liver)
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	Cell type enhanced (Syncytiotrophoblasts, Hepatocytes)
Blood specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed blood cell 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	Immune cell enhanced (basophil)
Brain specificityⁱ The regional specificity category is based on mRNA expression levels in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression profile is based on a combination of data from GTEX and FANTOM5. 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. Read more	Low human brain regional specificity
Cancer prognostic summary	Prognostic marker in renal cancer (favorable) and liver cancer (favorable)
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
Subcellular summaryⁱ The main location is characterized by presence in all tested cell lines and/or increased intensity compared to other locations. Additional locations are characterized by either a markedly lower staining intensity than the main location, or that it is only observed in a subset of the cell lines.	Located in Nucleoplasm, Mitochondria (Single cell variability)
Molecular function (UniProt)ⁱ Keywords assigned by UniProt to proteins due to their particular molecular function.	Acyltransferase, Transferase
Biological process (UniProt)ⁱ Keywords assigned by UniProt to proteins because they are involved in a particular biological process.	Heme biosynthesis
Ligand (UniProt)ⁱ Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.	Pyridoxal phosphate
Gene summary (Entrez)ⁱ Useful information about the gene from Entrez	This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]... show less

TISSUE ATLASⁱ Summary of data presented in the Tissue Atlas and representative images of protein expression (left) and mRNA expression (right). The images are clickable and will redirect to more Tissue Atlas data. The Tissue Atlas 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 specificity (RNA)ⁱ The RNA specificity category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA, GTEX and FANTOM5. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected. Read more	Tissue enhanced (adrenal gland, liver)
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, GTEX and FANTOM5. The categories include: detected in all, detected in many, detected in some, detected in single and not detected. Read more	Detected in all
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	Ubiquitous cytoplasmic expression with a granular pattern.

SINGLE CELL TYPE ATLASⁱ Summary of data presented in the Cell Type Atlas and an interactive image showing mRNA expression in cell type groups e.g. epithelial cells and germ cells. The image is clickable and will redirect to more Cell Type Atlas data. The Cell Type Atlas contains information about single cell type RNA expression based on scRNAseq of human tissues. The data also covers transcriptomics analysis of human blood and cultured cell lines. Read more

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	Cell type enhanced (Syncytiotrophoblasts, Hepatocytes)
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

PATHOLOGY ATLASⁱ Summary of data presented in the Pathology Atlas , with representative images of protein expression in cancer (left) and correlation between mRNA expression and patient survival (right). Images are clickable and redirect to pages with more Pathology Atlas data. The Pathology Atlas contains mRNA and protein expression data from 17 different forms of human cancer, as well as correlation analysis of mRNA expression and patient survival. The protein expression data is derived from antibody-based protein profiling using immunohistochemistry. Read more
	Renal cancer p<0.001
Prognostic summary	Prognostic marker in renal cancer (favorable) and liver cancer (favorable)
Cancer specificity (RNA)ⁱ Specificity of RNA expression in 17 cancer types is categorized as either cancer enriched, group enriched, cancer enhanced, low cancer specificity and not detected. Read more	Low cancer specificity
Cancer distribution (RNA)ⁱ Distribution of RNA expression in 17 cancer types is categorized as either detected in single, detected in some, detected in many, detected in all, or not detected. Read more	Detected in all

BRAIN ATLASⁱ Summary of data presented in the Brain Atlas and a representative image of mRNA expression in the human brain. The image is clickable and will redirect to more Brain Atlas data. The Brain Atlas explores the protein expression in the mammalian brain by visualization and integration of data from three mammalian species (human, pig and mouse). Transcriptomics data combined with affinity-based protein in situ localization down to single cell level is available in a brain-centric sub atlas of the Human Protein Atlas. Read more

Human regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression profile is based on a combination of data from GTEX and FANTOM5. 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. Read more	Low region specificity
Pig regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression profile is based on a combination of data from GTEX and FANTOM5. 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. Read more	Low region specificity
Mouse regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression profile is based on a combination of data from GTEX and FANTOM5. 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. Read more	Low region specificity

BLOOD ATLASⁱ Summary of data presented in the Blood Atlas and a representative image of mRNA expression in immune cells in the blood. The image is clickable and will redirect to more Blood Atlas data. The Blood Atlas contains single cell type RNA information covering various immune cells in the blood, e.g. B-cells and granulocytes. Analysis of the human secretome (including annotation of the genes predicted to be actively secreted to human blood) and proteins detected in human blood are also presented. Read more

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. Read more	Cell type enhanced (basophil)
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. Read more	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 data set obtained from the PeptideAtlas.	No

CELL ATLASⁱ Summary of data presented in the Cell Atlas and a representative image of subcellular localization. The Cell Atlas provides RNA expression data derived from RNA sequencing of a large panel of cell lines and protein localization data derived from antibody-based profiling by immunofluorescence confocal microscopy, using a subset of cell lines selected based on RNA expression. Read more

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 Mitochondria
Additional locationⁱ Additonal subcellular location(s) for the encoded protein(s) in human cells. The additional location(s) may not be present i all cell lines and may have lower staining intensity compared to the main 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	In addition localized to the Nucleoplasm
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

GENE INFORMATIONⁱ Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Gene name	ALAS1 (HGNC Symbol)
Synonyms	ALAS, ALAS3
Description	5'-aminolevulinate synthase 1 (HGNC Symbol)
Chromosome	3
Cytoband	p21.2
Chromosome location (bp)	52198086 - 52214327
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	6
Protein evidence	Evidence at protein level (all genes)
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s). Read more	Enzymes Plasma proteins
Ensembl	ENSG00000023330 (version 92.38)
Entrez gene	211
UniProt	P13196 (UniProt - Evidence at protein level)
neXtProt	NX_P13196
Antibodypedia	ALAS1 antibodies

PROTEIN BROWSERⁱ

ALAS1-201

ALAS1-202

ALAS1-203

ALAS1-204

ALAS1-205

ALAS1-206

PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein. The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class. The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ALAS1-201 ENSP00000309259 ENST00000310271	P13196 [Direct mapping] 5-aminolevulinate synthase, nonspecific, mitochondrial Q5JAM2 [Target identity:100%; Query identity:100%] 5-aminolevulinate synthase Show all	Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Peptideatlas) Show all	GO:0003824 [catalytic activity] GO:0003870 [5-aminolevulinate synthase activity] GO:0005515 [protein binding] GO:0005654 [nucleoplasm] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0005829 [cytosol] GO:0006778 [porphyrin-containing compound metabolic process] GO:0006782 [protoporphyrinogen IX biosynthetic process] GO:0006783 [heme biosynthetic process] GO:0007005 [mitochondrion organization] GO:0008152 [metabolic process] GO:0009058 [biosynthetic process] GO:0016740 [transferase activity] GO:0016746 [transferase activity, transferring acyl groups] GO:0019216 [regulation of lipid metabolic process] GO:0030170 [pyridoxal phosphate binding] GO:0033014 [tetrapyrrole biosynthetic process] GO:0042802 [identical protein binding] Show all	640 aa 70.6 kDa	No	0
ALAS1-202 ENSP00000378416 ENST00000394965	P13196 [Direct mapping] 5-aminolevulinate synthase, nonspecific, mitochondrial Q5JAM2 [Target identity:100%; Query identity:100%] 5-aminolevulinate synthase Show all	Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Peptideatlas) Show all	GO:0003824 [catalytic activity] GO:0003870 [5-aminolevulinate synthase activity] GO:0005515 [protein binding] GO:0005654 [nucleoplasm] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0005829 [cytosol] GO:0006778 [porphyrin-containing compound metabolic process] GO:0006782 [protoporphyrinogen IX biosynthetic process] GO:0006783 [heme biosynthetic process] GO:0007005 [mitochondrion organization] GO:0008152 [metabolic process] GO:0009058 [biosynthetic process] GO:0016740 [transferase activity] GO:0016746 [transferase activity, transferring acyl groups] GO:0019216 [regulation of lipid metabolic process] GO:0030170 [pyridoxal phosphate binding] GO:0033014 [tetrapyrrole biosynthetic process] GO:0042802 [identical protein binding] Show all	640 aa 70.6 kDa	No	0
ALAS1-203 ENSP00000419423 ENST00000459884	H7C5B0 [Direct mapping] 5-aminolevulinate synthase, nonspecific, mitochondrial Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0003824 [catalytic activity] GO:0009058 [biosynthetic process] GO:0030170 [pyridoxal phosphate binding] Show all	117 aa 13.4 kDa	No	0
ALAS1-204 ENSP00000417719 ENST00000469224	P13196 [Direct mapping] 5-aminolevulinate synthase, nonspecific, mitochondrial Q5JAM2 [Target identity:100%; Query identity:100%] 5-aminolevulinate synthase Show all	Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Peptideatlas) Show all	GO:0003824 [catalytic activity] GO:0003870 [5-aminolevulinate synthase activity] GO:0005515 [protein binding] GO:0005654 [nucleoplasm] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0005829 [cytosol] GO:0006778 [porphyrin-containing compound metabolic process] GO:0006782 [protoporphyrinogen IX biosynthetic process] GO:0006783 [heme biosynthetic process] GO:0007005 [mitochondrion organization] GO:0008152 [metabolic process] GO:0009058 [biosynthetic process] GO:0016740 [transferase activity] GO:0016746 [transferase activity, transferring acyl groups] GO:0019216 [regulation of lipid metabolic process] GO:0030170 [pyridoxal phosphate binding] GO:0033014 [tetrapyrrole biosynthetic process] GO:0042802 [identical protein binding] Show all	640 aa 70.6 kDa	No	0
ALAS1-205 ENSP00000418779 ENST00000484952	P13196 [Direct mapping] 5-aminolevulinate synthase, nonspecific, mitochondrial Q5JAM2 [Target identity:100%; Query identity:100%] 5-aminolevulinate synthase Show all	Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Peptideatlas) Show all	GO:0003824 [catalytic activity] GO:0003870 [5-aminolevulinate synthase activity] GO:0005515 [protein binding] GO:0005654 [nucleoplasm] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0005829 [cytosol] GO:0006778 [porphyrin-containing compound metabolic process] GO:0006782 [protoporphyrinogen IX biosynthetic process] GO:0006783 [heme biosynthetic process] GO:0007005 [mitochondrion organization] GO:0008152 [metabolic process] GO:0009058 [biosynthetic process] GO:0016740 [transferase activity] GO:0016746 [transferase activity, transferring acyl groups] GO:0019216 [regulation of lipid metabolic process] GO:0030170 [pyridoxal phosphate binding] GO:0033014 [tetrapyrrole biosynthetic process] GO:0042802 [identical protein binding] Show all	640 aa 70.6 kDa	No	0
ALAS1-206 ENSP00000417352 ENST00000493402	H7C4H7 [Direct mapping] 5-aminolevulinate synthase, nonspecific, mitochondrial Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0003824 [catalytic activity] GO:0009058 [biosynthetic process] GO:0030170 [pyridoxal phosphate binding] Show all	237 aa 26.6 kDa	No	0

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The Human Protein Atlas

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