| Gene Symbol |
GNE
|
| Entrez Gene |
10020
|
| Alt Symbol |
DMRV, GLCNE, IBM2, NM, Uae1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
| Other Description |
N-acylmannosamine kinase|UDP-GlcNAc-2-epimerase/ManAc kinase|UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase|UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase|bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
|
| Swissprots |
B2R6E1 B7Z372 H0YFA7 F5H499 A6PZH2 D3DRP7 Q0VA94 A6PZH3 B7Z428 A7UNU7 Q9Y223
|
| Accessions |
AAG31661 EAW58307 EAW58308 EAW58309 Q9Y223 AF051852 AAD32251 AF155663 AAD38197 AJ238764 CAB42607 AK295562 BAH12108 AK296687 BAH12414 AK299488 BAH13048 AK312539 BAG35438 AL701451 AM697708 CAM91424 AM697709 CAM91425 AY531126 AAS59257 AY531127 AAS59258 AY531128 AAS59259 BC121179 AAI21180 BF197948 BM996750 BM999446 BP201585 BQ217959 CA503236 DC416534 DC418354 EU093084 ABU55403 XM_005251334 XP_005251391 NM_001128227 NP_001121699 NM_001190383 NP_001177312 NM_001190384 NP_001177313 NM_001190388 NP_001177317 NM_005476 NP_005467
|
| Function |
Regulates and initiates biosynthesis of N- acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells. {ECO:0000250, ECO:0000269|PubMed:10334995}.
|
| Subcellular Location |
Cytoplasm {ECO:0000250}.
|
| Tissue Specificity |
Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon. {ECO:0000269|PubMed:10330343, ECO:0000269|PubMed:10431835, ECO:0000269|PubMed:17597614}.
|
| Top Pathways |
Amino sugar and nucleotide sugar metabolism
|