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GENE AND PROTEIN SUMMARY

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Gene name

SERPINC1

Description

serpin peptidase inhibitor, clade C (antithrombin), member 1

Protein class

Candidate cardiovascular disease genes, Mapped to UniProt SWISS-PROT, Plasma proteins, Potential transmembrane proteins, Potentially secreted proteins

Protein evidence

High

Entrez gene summary

The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm

Additional location(s)

Nucleoli, Centrosome 

Staining summary

Mainly localized to the cytoplasm but also to centrosomes and nucleoli.

Reliability (APE)

Low

Antibodies in assay

HPA001816, CAB016790, HPA024007
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Distinct expression in plasma. Also expressed at lower levels in the cytoplasm of several cell types.

Tissue specificity

Expressed in 45 out of 81 cell types

Reliability (APE)

High

Antibodies in assay

HPA001816, CAB016790, HPA024007
 

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 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 52% of the cancers

Antibodies in assay

HPA001816, CAB016790, HPA024007
 

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

HPA001816

CAB016790

HPA001816

CAB016790

HPA024007

A-431 Skin Not detected
ModerateNegativeModerate
A-549 Lung Not detected
CACO-2 Colon Low
HEK 293 Embryonal kidney Not detected
HeLa Cervix Not detected
Hep-G2 Liver High
MCF-7 Pleural effusion Not detected
PC-3 Bone marrow Not detected
RT-4 Urinary bladder Low
U-2 OS Bone Low
WeakNegativeWeak
U-251 MG Brain Not detected
NegativeNegativeWeak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA001816 pAb
CAB016790 mAb
HPA024007 pAb