GNE - glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Gene
Also Known as NM; DMRV; IBM2; Uae1; GLCNE
Species: Homo sapiens
About GNE
This gene has 6 transcripts (splice variants), 200 orthologues and is associated with 7 phenotypes. Broad expression in liver (RPKM 23.5), colon (RPKM 22.5) and 23 other tissues.
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]
GNE Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001128227.3 | NP_001121699.1 | bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 1 |
| NM_001190383.3 | NP_001177312.1 | bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 4 |
| NM_001190384.3 | NP_001177313.1 | bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 5 |
| NM_001190388.2 | NP_001177317.2 | bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 3 |
| NM_001374797.1 | NP_001361726.1 | bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 6 |
| NM_001374798.1 | NP_001361727.1 | bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 3 |
| NM_005476.7 | NP_005467.1 | bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables N-acylmannosamine kinase activity |
IMP
IMP: Inferred from mutant phenotype
|
14707127 | GOA |
| enables UDP-N-acetylglucosamine 2-epimerase activity |
IDA
IDA: Inferred from direct assay
|
2808337 | GOA |
| enables UDP-N-acetylglucosamine 2-epimerase activity |
IMP
IMP: Inferred from mutant phenotype
|
14707127 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
18560563 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in CMP-N-acetylneuraminate biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
31121216 | GOA |
| involved in N-acetylneuraminate biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
14707127 | GOA |
| involved in glycosylation |
IMP
IMP: Inferred from mutant phenotype
|
31121216 | GOA |
GNE Protein Structure
Epimerase_2: UDP-N-acetylglucosamine 2-epimerase (38 - 375)
ROK: ROK family (411 - 596)
- 0
- 200
- 400
- 600
- 722 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase |
|
GNE Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GNE | Q9Y223 | KRTAP10-8 | Homo sapiens | P60410 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | KRTAP10-8 | Homo sapiens | P60410 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | KRTAP10-8 | Homo sapiens | P60410 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | KRTAP10-9 | Homo sapiens | P60411 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | KRTAP10-9 | Homo sapiens | P60411 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | KRTAP10-7 | Homo sapiens | P60409 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | ADAMTSL4 | Homo sapiens | Q6UY14-3 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | KRTAP9-2 | Homo sapiens | Q9BYQ4 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | KRTAP9-2 | Homo sapiens | Q9BYQ4 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | KRTAP9-2 | Homo sapiens | Q9BYQ4 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | ACTN1 | Homo sapiens | P12814 | 18560563 | |
|
Intra
|
GNE | Q9Y223 | ACTN1 | Homo sapiens | P12814 | 18560563 | |
|
Intra
|
GNE | Q9Y223 | ACTN1 | Homo sapiens | P12814 | 18560563 | |
|
Intra
|
GNE | Q9Y223 | KRTAP5-9 | Homo sapiens | P26371 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | KRTAP5-9 | Homo sapiens | P26371 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | KRTAP5-9 | Homo sapiens | P26371 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | KRTAP4-12 | Homo sapiens | Q9BQ66 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | GTPBP3 | Homo sapiens | Q969Y2 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | GTPBP3 | Homo sapiens | Q969Y2 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | SPRY2 | Homo sapiens | O43597 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | NOTCH2NLA | Homo sapiens | Q7Z3S9 | 31515488 | |
|
Intra
|
GNE | Q9Y223 | NOTCH2NLA | Homo sapiens | Q7Z3S9 | 25416956 | |
|
Intra
|
GNE | Q9Y223 | KRT31 | Homo sapiens | Q15323 | 25416956 |
GNE Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83172 | GNE Antibody (YA2917) | WB, IP | Human |
| HY-P83172A | GNE Antibody (YA2917)(PBS only) | WB, IP | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Nonaka Myopathy |
|
|
| Sialuria |
|
|
| Inclusion Body Myositis |
|
|
| Free Sialic Acid Storage Disorders |
|
|
| Bleeding Disorder, Platelet-Type, 19 |
|
|
| Miyoshi Muscular Dystrophy |
|
|
| Myopathy |
|
|
| Thrombocytopenia |
|
|
| Neuromuscular Disease |
|
|
| Myositis |
|
|
| Muscular Dystrophy |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Congenital Disorder Of Glycosylation, Type Iif |
|
|
| Tibial Muscular Dystrophy |
|
|
| Myopathy, Myofibrillar, 4 |
|
|
| Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2 |
|
|
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
|
| Muscle Tissue Disease |
|
|
| Myofibrillar Myopathy |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
|
| Muscular Disease |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
|
| Walker-Warburg Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | GNE | VGNC | VGNC:102936 |
| Mus musculus | GNE | MGD | MGI:1354951 |
| Bos taurus | GNE | VGNC | VGNC:56970 |
| Rattus norvegicus | GNE | RGD | RGD:69239 |
| Canis familiaris | GNE | VGNC | VGNC:51721 |
| Macaca mulatta | GNE | VGNC | VGNC:103269 |
| Others | GNE | NCBI |