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GENE AND PROTEIN SUMMARY

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Gene name

AP4E1

Description

adaptor-related protein complex 4, epsilon 1 subunit

Protein class

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

Protein evidence

Medium

Entrez gene summary

This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm

Additional location(s)

 

Staining summary

Localized to cytoplasm.

Reliability (APE)

Very low

Antibodies in assay

HPA041749, HPA041891
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Distinct expression in selected tissues, including small intestine and muscle cells.

Tissue specificity

Expressed in 26 out of 79 cell types

Reliability (APE)

Low

Antibodies in assay

HPA041749, HPA041891
 

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 1
Male tissues 4
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 22% of the cancers

Antibodies in assay

HPA041749, HPA041891
 

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

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

 

HPA041749

HPA041891

A-431 Skin Medium

-

ModerateNegative
A-549 Lung Medium

-

CACO-2 Colon Medium

-

HEK 293 Embryonal kidney Low

-

HeLa Cervix Medium

-

Hep-G2 Liver Low

-

MCF-7 Pleural effusion Medium

-

PC-3 Bone marrow Low

-

RT-4 Urinary bladder Medium

-

U-2 OS Bone Medium

-

WeakNegative
U-251 MG Brain Medium

-

StrongNegative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA041749 pAb
HPA041891 pAb