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GENE AND PROTEIN SUMMARY

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Gene name

GNE

Description

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Protein class

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

Protein evidence

High

Entrez gene summary

The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

7 in total
6 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm

Additional location(s)

Mitochondria 

Staining summary

Staining of cytoplasm in all three cell lines with additional staining of mitochondria in A-431.

Reliability (Single)

Antibodies in assay

HPA027258
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression in most tissues at variable levels. Most abundant in gastrointestinal tract.

Tissue specificity

Expressed in 62 out of 80 cell types

Reliability (APE)

Low

Antibodies in assay

HPA007045, HPA027258
 

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 2
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 42% of the cancers

Antibodies in assay

HPA007045, HPA027258
 

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

HPA007045

HPA027258

HPA027258

A-431 Skin Medium
Weak
A-549 Lung High
CACO-2 Colon Medium

-

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA007045 pAb
HPA027258 pAb