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GENE AND PROTEIN SUMMARY

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Gene name

SLC19A3

Description

solute carrier family 19, member 3

Protein class

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

Protein evidence

High

Entrez gene summary

This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm

Additional location(s)

Nucleus but not nucleoli 

Staining summary

Staining of the cytoplasm in all three cell lines. Additional staining of the nucleus in A-431 and U-2 OS.

Reliability (Single)

Antibodies in assay

HPA038898
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Strong granular cytoplasmic positivity was observed in renal tubules and exocrine pancreas. Cilia of respiratory epithelia and fallopian tube was strongly stained. Strong membranous positivity was observed in trophoblastic cells. Epidermis, breast, smooth muscle and lymphoid tissues were negative. Remaining normal tissues displayed weak to moderate cytoplasmic positivity. Nuclear staining was observed in neuronal cells and in seminiferus ducts.

Tissue specificity

Staining in 42 out of 78 cell types

Reliability (Single)

Antibodies in assay

HPA038898
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 4
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 1
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 11% of the cancers

Antibodies in assay

HPA038898
 

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

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

 

HPA038898

A-431 Skin Not detected

-

Moderate
A-549 Lung Low

-

CACO-2 Colon Medium

-

HEK 293 Embryonal kidney Low

-

HeLa Cervix Not detected

-

Hep-G2 Liver Low

-

MCF-7 Pleural effusion Low

-

PC-3 Bone marrow Not detected

-

RT-4 Urinary bladder Low

-

U-2 OS Bone Low

-

Moderate
U-251 MG Brain Low

-

Strong

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA038898 pAb