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GENE AND PROTEIN SUMMARY

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Gene name

AASS

Description

aminoadipate-semialdehyde synthase

Protein class

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

Protein evidence

High

Entrez gene summary

This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]

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)

Mitochondria, Vesicles

Additional location(s)

 

Staining summary

Localized to vesicles and mitochondria.

Reliability (APE)

High

Antibodies in assay

HPA020637, HPA020728, HPA020734
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression in essentially all cells except lymphoid cells.

Tissue specificity

Expressed in 59 out of 79 cell types

Reliability (APE)

High

Antibodies in assay

HPA020637, HPA020728, HPA020734
 

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 12
Placenta 1
Male tissues 5
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 33% of the cancers

Antibodies in assay

HPA020637, HPA020728, HPA020734
 

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

HPA020734

HPA020637

HPA020728

HPA020734

A-431 Skin Low
WeakWeakWeak
A-549 Lung Not detected
CACO-2 Colon Medium
HEK 293 Embryonal kidney Medium
HeLa Cervix Medium
Hep-G2 Liver Medium
MCF-7 Pleural effusion Low
PC-3 Bone marrow Low
RT-4 Urinary bladder Low
U-2 OS Bone Medium
WeakModerateModerate
U-251 MG Brain Medium
WeakModerateModerate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA020728 pAb
HPA020734 pAb
HPA020637 pAb