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GENE AND PROTEIN SUMMARY

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Gene name

ABCD3

Description

ATP-binding cassette, sub-family D (ALD), member 3

Protein class

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

Protein evidence

Medium

Entrez gene summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Vesicles

Additional location(s)

 

Staining summary

Staining of vesicles in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA032027
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Normal tissues showed moderate to strong cytoplasmic positivity with a granular pattern. The gastrointestinal tract, respiratory epithelium, hepatocytes and glial cells displayed strong immunoreactivity. Renal glomeruli, the spleen and smooth muscle cells were negative.

Tissue specificity

Staining in 70 out of 80 cell types

Reliability (Single)

Antibodies in assay

HPA032027
 

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 12
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 94% of the cancers

Antibodies in assay

HPA032027
 

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

HPA032027

HPA032027

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA032027 pAb