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GENE AND PROTEIN SUMMARY

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Gene name

DTNBP1

Description

dystrobrevin binding protein 1

Protein class

Mapped to UniProt SWISS-PROT

Protein evidence

High

Entrez gene summary

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoskeleton (Microtubules)

Additional location(s)

 

Staining summary

Staining of cytoskeleton (micro tubules) in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA029615
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

General cytoplasmic expression in essentially all cells types.

Tissue specificity

Expressed in 56 out of 82 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA028053, HPA029615, HPA029616
 

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 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 50% of the cancers

Antibodies in assay

HPA028053, HPA029615, HPA029616
 

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

HPA028053

HPA029615

HPA029616

HPA029615

A-431 Skin Medium
Strong
A-549 Lung Medium
CACO-2 Colon Medium

-

-

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA028053 pAb
HPA029615 pAb
HPA029616 pAb