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GENE AND PROTEIN SUMMARY

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Gene name

F9

Description

coagulation factor IX

Protein class

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

Protein evidence

Medium

Entrez gene summary

This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli

Additional location(s)

Vesicles 

Staining summary

Staining of nuclei and cytoplasm in all three cell lines with additional staining of vesicles in U-2 OS and U-251 MG.

Reliability (Single)

Antibodies in assay

HPA000254
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Smooth muscle from intestine and islets cells of pancreas showed strong cytoplasmic positivity. Heart muscle, breast and bone marrow poetic cells were moderately stained. Remaining normal cells were negative.

Tissue specificity

Staining in 37 out of 81 cell types

Reliability (Single)

Antibodies in assay

HPA000254
 

Organ

No of cell types

Antibody staining

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 antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 43% of the cancers

Antibodies in assay

HPA000254
 

Tissue

Cancer staining

Normal tissue
staining

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

Tissue

Cancer staining

Normal tissue
staining

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

Not detected
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA000254

HPA000254

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA000254 pAb