Tissue expression of GNE - Summary - The Human Protein Atlas

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GNE

TISSUE

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CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	GNE
Gene description	Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in most tissues.

DATA RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data.
Reliability score	Approved based on 2 antibodies. HPA007045 , HPA027258
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	GNE (HGNC Symbol)
Synonyms	IBM2, Uae1
Description	Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (HGNC Symbol)
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]
Chromosome	9
Cytoband	p13.3
Chromosome location (bp)	36214441 - 36277056
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000159921 (version 83.38)
Entrez gene	10020
UniProt	Q9Y223 (UniProt - Evidence at protein level)
neXtProt	NX_Q9Y223
Antibodypedia	GNE antibodies

PROTEIN BROWSER

GNE-001	GNE-002	GNE-003	GNE-004	GNE-005	GNE-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
GNE-001 ENSP00000367134 ENST00000377902	Q9Y223 [Direct mapping] Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) N-acetylmannosamine kinase Show all	Enzymes ENZYME proteins Transferases Hydrolases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006045 [N-acetylglucosamine biosynthetic process] GO:0006047 [UDP-N-acetylglucosamine metabolic process] GO:0006054 [N-acetylneuraminate metabolic process] GO:0006488 [dolichol-linked oligosaccharide biosynthetic process] GO:0007155 [cell adhesion] GO:0008761 [UDP-N-acetylglucosamine 2-epimerase activity] GO:0009384 [N-acylmannosamine kinase activity] GO:0018279 [protein N-linked glycosylation via asparagine] GO:0043687 [post-translational protein modification] GO:0044267 [cellular protein metabolic process] GO:0046835 [carbohydrate phosphorylation] GO:0046872 [metal ion binding] Show all	722 aa 79.3 kDa	No	1
GNE-002 ENSP00000445117 ENST00000539208	Q9Y223 [Direct mapping] Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) N-acetylmannosamine kinase Show all	Enzymes ENZYME proteins Transferases Hydrolases MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006045 [N-acetylglucosamine biosynthetic process] GO:0006047 [UDP-N-acetylglucosamine metabolic process] GO:0006054 [N-acetylneuraminate metabolic process] GO:0006488 [dolichol-linked oligosaccharide biosynthetic process] GO:0007155 [cell adhesion] GO:0008761 [UDP-N-acetylglucosamine 2-epimerase activity] GO:0009384 [N-acylmannosamine kinase activity] GO:0018279 [protein N-linked glycosylation via asparagine] GO:0043687 [post-translational protein modification] GO:0044267 [cellular protein metabolic process] GO:0046835 [carbohydrate phosphorylation] GO:0046872 [metal ion binding] Show all	612 aa 66.8 kDa	No	0
GNE-003 ENSP00000379839 ENST00000396594	Q9Y223 [Direct mapping] Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) N-acetylmannosamine kinase Show all	Enzymes ENZYME proteins Transferases Hydrolases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006045 [N-acetylglucosamine biosynthetic process] GO:0006047 [UDP-N-acetylglucosamine metabolic process] GO:0006054 [N-acetylneuraminate metabolic process] GO:0006488 [dolichol-linked oligosaccharide biosynthetic process] GO:0007155 [cell adhesion] GO:0008761 [UDP-N-acetylglucosamine 2-epimerase activity] GO:0009384 [N-acylmannosamine kinase activity] GO:0018279 [protein N-linked glycosylation via asparagine] GO:0043687 [post-translational protein modification] GO:0044267 [cellular protein metabolic process] GO:0046835 [carbohydrate phosphorylation] GO:0046872 [metal ion binding] Show all	753 aa 83.1 kDa	No	1
GNE-004 ENSP00000437765 ENST00000543356	Q9Y223 [Direct mapping] Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) N-acetylmannosamine kinase Show all	Enzymes ENZYME proteins Transferases Hydrolases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006045 [N-acetylglucosamine biosynthetic process] GO:0006047 [UDP-N-acetylglucosamine metabolic process] GO:0006054 [N-acetylneuraminate metabolic process] GO:0006488 [dolichol-linked oligosaccharide biosynthetic process] GO:0007155 [cell adhesion] GO:0008761 [UDP-N-acetylglucosamine 2-epimerase activity] GO:0009384 [N-acylmannosamine kinase activity] GO:0018279 [protein N-linked glycosylation via asparagine] GO:0043687 [post-translational protein modification] GO:0044267 [cellular protein metabolic process] GO:0046835 [carbohydrate phosphorylation] GO:0046872 [metal ion binding] Show all	717 aa 78.6 kDa	No	1
GNE-005 ENSP00000414760 ENST00000447283	Q9Y223 [Direct mapping] Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) N-acetylmannosamine kinase Show all	Enzymes ENZYME proteins Transferases Hydrolases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006045 [N-acetylglucosamine biosynthetic process] GO:0006047 [UDP-N-acetylglucosamine metabolic process] GO:0006054 [N-acetylneuraminate metabolic process] GO:0006488 [dolichol-linked oligosaccharide biosynthetic process] GO:0007155 [cell adhesion] GO:0008761 [UDP-N-acetylglucosamine 2-epimerase activity] GO:0009384 [N-acylmannosamine kinase activity] GO:0018279 [protein N-linked glycosylation via asparagine] GO:0043687 [post-translational protein modification] GO:0044267 [cellular protein metabolic process] GO:0046835 [carbohydrate phosphorylation] GO:0046872 [metal ion binding] Show all	648 aa 71.3 kDa	No	1
GNE-201 ENSP00000439155 ENST00000539815	Q9Y223 [Direct mapping] Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) N-acetylmannosamine kinase Show all	Enzymes ENZYME proteins Transferases Hydrolases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006045 [N-acetylglucosamine biosynthetic process] GO:0006047 [UDP-N-acetylglucosamine metabolic process] GO:0006054 [N-acetylneuraminate metabolic process] GO:0006488 [dolichol-linked oligosaccharide biosynthetic process] GO:0007155 [cell adhesion] GO:0008761 [UDP-N-acetylglucosamine 2-epimerase activity] GO:0009384 [N-acylmannosamine kinase activity] GO:0018279 [protein N-linked glycosylation via asparagine] GO:0043687 [post-translational protein modification] GO:0044267 [cellular protein metabolic process] GO:0046835 [carbohydrate phosphorylation] GO:0046872 [metal ion binding] Show all	722 aa 79.3 kDa	No	1

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The Human Protein Atlas

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