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GENE AND PROTEIN SUMMARY

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Gene name

CPS1

Description

carbamoyl-phosphate synthase 1, mitochondrial

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

High

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

6 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleoli

Additional location(s)

 

Staining summary

Localized to the nucleoli.

Reliability (APE)

Low

Antibodies in assay

CAB003781, HPA021400
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Selective granular cytoplasmic expression in small intestine and hepatocytes.

Tissue specificity

Expressed in 3 out of 82 cell types

Reliability (APE)

High

Antibodies in assay

CAB003781, HPA021400
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 13% of the cancers

Antibodies in assay

CAB003781, HPA021400
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB003781

HPA021400

CAB003781

HPA021400

A-431 Skin Low
WeakStrong
A-549 Lung Medium
CACO-2 Colon Low
HEK 293 Embryonal kidney Medium
HeLa Cervix High
Hep-G2 Liver Medium
MCF-7 Pleural effusion Low
PC-3 Bone marrow Low
RT-4 Urinary bladder Low
U-2 OS Bone Medium
NegativeStrong
U-251 MG Brain Medium
Strong

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB003781 mAb
HPA021400 pAb