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GENE AND PROTEIN SUMMARY

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Gene name

AMPH

Description

amphiphysin

Protein class

Mapped to UniProt SWISS-PROT, SH3-domain containing proteins

Protein evidence

High

Entrez gene summary

This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]

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)

Plasma membrane 

Staining summary

Mainly localized to cytoplasm but also plasma membrane.

Reliability (APE)

Low

Antibodies in assay

HPA019828, HPA019829
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Selective and high expression in the CNS and peripheral nerves.

Tissue specificity

Expressed in 13 out of 82 cell types

Reliability (APE)

High

Antibodies in assay

CAB008559, HPA019828, HPA019829
 

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 12% of the cancers

Antibodies in assay

CAB008559, HPA019828, HPA019829
 

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

CAB008559

HPA019828

HPA019829

HPA019828

HPA019829

A-431 Skin Not detected
ModerateModerate
A-549 Lung Not detected
CACO-2 Colon Not detected

-

HEK 293 Embryonal kidney Low
HeLa Cervix Not detected
Hep-G2 Liver Not detected
MCF-7 Pleural effusion Low
PC-3 Bone marrow Not detected
RT-4 Urinary bladder Low
U-2 OS Bone Medium
StrongModerate
U-251 MG Brain Medium
StrongModerate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB008559 mAb
HPA019828 pAb
HPA019829 pAb