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GENERAL INFORMATION
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Protein class
Protein class the gene product belongs to according to selected gene lists. List of protein classes.
Predicted localization
Protein localization predicted from several bioinformatic algorithms. More info...
Number of transcripts
Number of protein-coding transcribed from this gene as defined by Ensembl.
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Gene name |
CPS1 |
Gene description |
Carbamoyl-phosphate synthase 1, mitochondrial |
Protein class |
Disease related genes
Enzymes
FDA approved drug targets
Mitochondrial proteins
Plasma proteins
Predicted intracellular proteins |
Predicted localization |
Intracellular |
Number of transcripts |
7 |
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HUMAN PROTEIN ATLAS INFORMATION
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RNA tissue category
The RNA tissue category is based on mRNA expression levels in 32 different tissues ( RNA assay description).
The categories include: tissue enriched, group enriched, tissue enhanced, expressed in all, not detected, and mixed.
RNA tissue category is calculated separately both for internally generated Human Protein Atlas (HPA) RNA-seq data, as
well as RNA-seq data from the Genotype-Tissue Expression ( GTEx) consortium.
Protein evidence
Protein evidence scores are generated from several independent sources
and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence or iv) not available.
Protein localization
A summary of the overall protein expression pattern across the analyzed tissues. The summary is based on knowledge-based
annotation ( Annotation description). For genes pending
knowledge-based annotation, the protein localization refers to the antibody staining pattern.
"RNA-based expert annotation gave inconconclusive results" 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.
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RNA tissue category |
| HPA: | Group enriched (duodenum, liver, small intestine) |
| GTEx: | Tissue enriched (liver) |
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Protein evidence |
Evidence at protein level |
Protein localization |
Selective granular cytoplasmic expression in small intestine and hepatocytes. |
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ANTIBODY RELIABILITY
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Data reliability description
Standardized explanatory sentences with additional information required for full understanding of the
knowledge-based expression profile. Currently, not all genes have been analyzed by knowledge-based
annotation, indicated by "Pending RNA-based expert annotation", when applicable.
Data reliability
Data reliability score ( score description), divided into supportive (premium)
or uncertain (not premium), is based on consistency between the staining pattern of one antibody or several
antibodies with RNA-seq data and available gene/protein characterization data.
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Data reliability
description |
Antibody staining consistent with RNA expression data. |
Data reliability |
Supportive based on 2 antibodies.
HPA021400
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CAB003781
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PROTEIN EXPRESSION OVERVIEW
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Protein expression data is shown for each of the 44 tissues. Color-coding is based on 13 tissue groups, each consisting
of tissues with common functional features. Mouse-over function shows protein score for analyzed cell types found 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 could not be performed, 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.
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GENE INFORMATION
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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.
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Gene name |
CPS1 |
Synonyms |
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Description |
Carbamoyl-phosphate synthase 1, mitochondrial (HGNC Symbol) |
Entrez gene summary |
The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010] |
Chromosome |
2 |
Cytoband |
q34 |
Chromosome location (bp) |
210477682 - 210679107 |
Protein evidence |
Evidence at protein level (all genes) |
Ensembl |
ENSG00000021826 (version 78.38) |
Entrez gene |
1373 |
UniProt |
P31327 (UniProt - Evidence at protein level) |
neXtProt |
NX_P31327 |
Antibodypedia |
CPS1 antibodies |
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PROTEIN BROWSER
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The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The
tabs at the top of the protein view section can be used to switch between the different splice variants to which
an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green
bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is
displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues
(HsID 50) ( read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS,
SignalP 4.0, and
Phobius (turquoise)
and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow
and InterPro regions in green. Common (purple) and
unique (grey) regions between different splice variants of the gene are also displayed
( read more), and at the
bottom of the protein view is the protein scale.
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PROTEIN INFORMATION
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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.
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Splice variant |
Ensembl |
UniProt |
Protein class |
Gene ontology |
Length
(aa) |
Molecular mass
(kDa) |
Signal peptide
(predicted) |
Transmembrane regions
(predicted)
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| CPS1-001 |
ENSP00000233072
ENST00000233072
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P31327
Show all »
« Hide
P31327 [Direct mapping]Carbamoyl-phosphate synthase [ammonia], mitochondrial A0A024R454 [Target identity:100%; Query identity:100%]Carbamoyl-phosphate synthetase 1, mitochondrial, isoform CRA_a {ECO:0000313|EMBL:EAW70494.1} Q5R207 [Target identity:62%; Query identity:100%]Carbamoylphosphate synthetase I {ECO:0000313|EMBL:BAD74208.1} B7ZAW0 [Target identity:12%; Query identity:100%]cDNA, FLJ79324, highly similar to Carbamoyl-phosphate synthase (ammonia), mitochondrial {ECO:0000313|EMBL:BAH14796.1} C9JTA4 [Target identity:8%; Query identity:100%]Carbamoyl-phosphate synthase [ammonia], mitochondrial {ECO:0000313|Ensembl:ENSP00000388496}
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Enzymes
ENZYME proteins
Ligase
MEMSAT3 predicted membrane proteins
SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Mitochondrial proteins
Disease related genes
FDA approved drug targets
Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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Show »
« Hide
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1500 |
164.9 |
No |
0 |
| CPS1-002 |
ENSP00000388496
ENST00000417946
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C9JTA4
Show all »
« Hide
C9JTA4 [Target identity:100%; Query identity:100%]Carbamoyl-phosphate synthase [ammonia], mitochondrial {ECO:0000313|Ensembl:ENSP00000388496}
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Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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121 |
13 |
No |
0 |
| CPS1-003 |
ENSP00000406136
ENST00000451903
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P31327
Show all »
« Hide
P31327 [Direct mapping]Carbamoyl-phosphate synthase [ammonia], mitochondrial B7ZAW0 [Target identity:17%; Query identity:100%]cDNA, FLJ79324, highly similar to Carbamoyl-phosphate synthase (ammonia), mitochondrial {ECO:0000313|EMBL:BAH14796.1}
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« Hide
Enzymes
ENZYME proteins
Ligase
MEMSAT3 predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Mitochondrial proteins
Disease related genes
FDA approved drug targets
Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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Show »
« Hide
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1049 |
116 |
No |
0 |
| CPS1-009 |
ENSP00000430644
ENST00000523702
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E7EWJ3
Show all »
« Hide
E7EWJ3 [Target identity:100%; Query identity:100%]Carbamoyl-phosphate synthase [ammonia], mitochondrial {ECO:0000313|Ensembl:ENSP00000430644} C9JTA4 [Target identity:77%; Query identity:100%]Carbamoyl-phosphate synthase [ammonia], mitochondrial {ECO:0000313|Ensembl:ENSP00000388496}
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Show »
« Hide
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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157 |
17 |
No |
0 |
| CPS1-010 |
ENSP00000430697
ENST00000518043
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C9JTA4
Show all »
« Hide
C9JTA4 [Target identity:100%; Query identity:100%]Carbamoyl-phosphate synthase [ammonia], mitochondrial {ECO:0000313|Ensembl:ENSP00000388496}
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Show »
« Hide
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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121 |
13 |
No |
0 |
| CPS1-011 |
ENSP00000402608
ENST00000430249
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P31327
Show all »
« Hide
P31327 [Direct mapping]Carbamoyl-phosphate synthase [ammonia], mitochondrial A0A024R454 [Target identity:99%; Query identity:100%]Carbamoyl-phosphate synthetase 1, mitochondrial, isoform CRA_a {ECO:0000313|EMBL:EAW70494.1} Q5R207 [Target identity:61%; Query identity:100%]Carbamoylphosphate synthetase I {ECO:0000313|EMBL:BAD74208.1} B7ZAW0 [Target identity:12%; Query identity:100%]cDNA, FLJ79324, highly similar to Carbamoyl-phosphate synthase (ammonia), mitochondrial {ECO:0000313|EMBL:BAH14796.1} E7EWJ3 [Target identity:10%; Query identity:100%]Carbamoyl-phosphate synthase [ammonia], mitochondrial {ECO:0000313|Ensembl:ENSP00000430644} C9JTA4 [Target identity:8%; Query identity:100%]Carbamoyl-phosphate synthase [ammonia], mitochondrial {ECO:0000313|Ensembl:ENSP00000388496}
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Show »
« Hide
Enzymes
ENZYME proteins
Ligase
MEMSAT3 predicted membrane proteins
SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Mitochondrial proteins
Disease related genes
FDA approved drug targets
Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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Show »
« Hide
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1506 |
165.6 |
No |
0 |
| CPS1-201 |
ENSP00000480517
ENST00000619804
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Q5R211
Show all »
« Hide
Q5R211 [Target identity:100%; Query identity:100%]Carbamoylphosphate synthetase I {ECO:0000313|EMBL:BAD74204.1} C9JTA4 [Target identity:23%; Query identity:100%]Carbamoyl-phosphate synthase [ammonia], mitochondrial {ECO:0000313|Ensembl:ENSP00000388496}
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Show »
« Hide
SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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Show »
« Hide
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513 |
55.7 |
No |
0 |
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