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GENE AND PROTEIN SUMMARY

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Gene name

HPS3

Description

Hermansky-Pudlak syndrome 3

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

High

Entrez gene summary

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Golgi apparatus

Additional location(s)

 

Staining summary

Staining of the Golgi apparatus in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA046281
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Most of the normal tissues displayed moderate to strong cytoplasmic positivity with a granular pattern. Mensenchymal cells were weakly stained or negative.

Tissue specificity

Staining in 75 out of 80 cell types

Reliability (Single)

Antibodies in assay

HPA046281
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 7
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 99% of the cancers

Antibodies in assay

HPA046281
 

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

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA046281

HPA046281

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA046281 pAb