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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. CPS1, carbamoyl-phosphate synthase 1, mitochondrial
Sequence ID:NM_001122633
NM_001122634
NM_001875
RefSeqGene ID:NG_008285
Entrez Gene ID:1373
Ensembl ID:ENSG00000021826

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY 
PULMONARYHYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORNFOXF1

Cytogenetic Location (from UniGene)

Cytogenetic Location:2q35Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:2: 211421457 - 211464279

 Exon Info From UCSC:
NM_001122633
NM_001122634
NM_001875

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
9056755Full LengthBC140943carbamoyl-phosphate synthetase 1, mitochondrial
4767004IncompleteBC020695carbamoyl-phosphate synthetase 1, mitochondrial

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_001866  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_001122633 NP_001116105      
NM_001122634 NP_001116106      
NM_001875 NP_001866 P31327 EC 6.3.4.16 GATase
CPSase_L_chain
CPSase_sm_chain
MGS
CPSase_L_D2
CPSase_L_D3

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
AF154830 AAD38072 P31327 EC 6.3.4.16
BC020695 AAH20695 Q05CV6  
BC058010 AAH58010 Q6PEK7  
BC140943 AAI40944 P31327 EC 6.3.4.16
AY317138 AAP84318 P31327 EC 6.3.4.16
D90282 BAA14328 P31327 EC 6.3.4.16
AB180933 BAD74204 Q5R211  
AB180934 BAD74205 Q5R210  
AB180935 BAD74206 Q5R209  
AB180936 BAD74207 Q5R208  
AB180937 BAD74208 Q5R207  
AB180938 BAD74209 Q5R206  
AB208800 BAD92037 Q59HF8  
AK289749 BAF82438 A8K134  
AK302778 BAH13804 P31327 EC 6.3.4.16
AK316425 BAH14796 B7ZAW0  
Y15793 CAA75785 P31327 EC 6.3.4.16
BX640601 CAE45707 P31327 EC 6.3.4.16

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens CPS1 NP_001116105 R.norvegicus Cps1 497840   NP_058768 96
M.musculus Cps1 227231 Gene Info NP_001074278 95

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)