GNE | ENSG00000159921 | NCBI 10020

Details for: GNE

Gene ID: 10020

Symbol: GNE

Ensembl ID: ENSG00000159921

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

Associated with

Asparagine n-linked glycosylation
(R-HSA-446203)
Biosynthesis of the n-glycan precursor (dolichol lipid-linked oligosaccharide, llo) and transfer to a nascent protein
(R-HSA-446193)
Defective gne causes sialuria, nk and ibm2
(R-HSA-4085011)
Disease
(R-HSA-1643685)
Diseases associated with glycosylation precursor biosynthesis
(R-HSA-5609975)
Diseases of glycosylation
(R-HSA-3781865)
Diseases of metabolism
(R-HSA-5668914)
Metabolism of proteins
(R-HSA-392499)
Post-translational protein modification
(R-HSA-597592)
Sialic acid metabolism
(R-HSA-4085001)
Synthesis of substrates in n-glycan biosythesis
(R-HSA-446219)
Atp binding
(GO:0005524)
Carbohydrate phosphorylation
(GO:0046835)
Cytosol
(GO:0005829)
Hydrolase activity, hydrolyzing o-glycosyl compounds
(GO:0004553)
Metal ion binding
(GO:0046872)
N-acetylglucosamine biosynthetic process
(GO:0006045)
N-acetylneuraminate biosynthetic process
(GO:0046380)
N-acylmannosamine kinase activity
(GO:0009384)
Protein binding
(GO:0005515)
Udp-n-acetylglucosamine 2-epimerase activity
(GO:0008761)
Udp-n-acetylglucosamine metabolic process
(GO:0006047)

Other Information

Proteins

UDP-GlcNAc-2-epimerase/ManAc kinase

Genular Protein ID: 332876305

Symbol: GLCNE_HUMAN

Name: UDP-GlcNAc-2-epimerase/ManAc kinase

UniProtKB Accession Codes:

Q9Y223 A6PZH2 A6PZH3 A7UNU7 B2R6E1 B7Z372 B7Z428 D3DRP7 F5H499 H0YFA7 Q0VA94

Database IDs:

Citations:

PubMed ID: 10431835

Title: Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis.

PubMed ID: 10431835

DOI: 10.1016/s0014-5793(99)00837-6

PubMed ID: 10330343

Title: Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.

PubMed ID: 10330343

DOI: 10.1086/302411

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17597614

Title: Prediction of three different isoforms of the human UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.

PubMed ID: 17597614

DOI: 10.1016/j.febslet.2007.06.026

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2808337

Title: Identification of the metabolic defect in sialuria.

PubMed ID: 2808337

DOI: 10.1016/s0021-9258(19)84615-x

PubMed ID: 10334995

Title: UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation.

PubMed ID: 10334995

DOI: 10.1126/science.284.5418.1372

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 19841673

Title: Crystal structure of the N-acetylmannosamine kinase domain of GNE.

PubMed ID: 19841673

DOI: 10.1371/journal.pone.0007165

PubMed ID: 22343627

Title: Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition.

PubMed ID: 22343627

DOI: 10.1074/jbc.m111.318170

PubMed ID: 26980148

Title: Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis.

PubMed ID: 26980148

DOI: 10.1038/srep23274

PubMed ID: 10356312

Title: Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.

PubMed ID: 10356312

DOI: 10.1006/mgme.1999.2852

PubMed ID: 11326336

Title: Dominant inheritance of sialuria, an inborn error of feedback inhibition.

PubMed ID: 11326336

DOI: 10.1086/320598

PubMed ID: 11528398

Title: The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

PubMed ID: 11528398

DOI: 10.1038/ng718

PubMed ID: 12325084

Title: A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.

PubMed ID: 12325084

DOI: 10.1002/ana.10341

PubMed ID: 11916006

Title: Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).

PubMed ID: 11916006

DOI: 10.1007/s100380200004

PubMed ID: 12409274

Title: Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).

PubMed ID: 12409274

DOI: 10.1016/s1096-7192(02)00141-5

PubMed ID: 12177386

Title: Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.

PubMed ID: 12177386

DOI: 10.1212/wnl.59.3.451

PubMed ID: 12473753

Title: Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

PubMed ID: 12473753

DOI: 10.1212/01.wnl.0000041631.28557.c6

PubMed ID: 12473769

Title: GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.

PubMed ID: 12473769

DOI: 10.1212/01.wnl.0000039780.13681.ad

PubMed ID: 12473780

Title: An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.

PubMed ID: 12473780

DOI: 10.1212/01.wnl.0000031808.04545.e0

PubMed ID: 12497639

Title: Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

PubMed ID: 12497639

DOI: 10.1002/humu.9100

PubMed ID: 12811782

Title: Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

PubMed ID: 12811782

DOI: 10.1002/mus.10391

PubMed ID: 12913203

Title: GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.

PubMed ID: 12913203

DOI: 10.1212/01.wnl.0000061520.63546.8f

PubMed ID: 14707127

Title: Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.

PubMed ID: 14707127

DOI: 10.1074/jbc.m313171200

PubMed ID: 15146476

Title: Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

PubMed ID: 15146476

DOI: 10.1002/humu.9252

PubMed ID: 16503651

Title: Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

PubMed ID: 16503651

DOI: 10.1021/bi0522504

Sequence Information:

Length: 722
Mass: 79275
Checksum: 4D7D049B06B00077
Sequence:

MEKNGNNRKL RVCVATCNRA DYSKLAPIMF GIKTEPEFFE LDVVVLGSHL IDDYGNTYRM 
IEQDDFDINT RLHTIVRGED EAAMVESVGL ALVKLPDVLN RLKPDIMIVH GDRFDALALA 
TSAALMNIRI LHIEGGEVSG TIDDSIRHAI TKLAHYHVCC TRSAEQHLIS MCEDHDRILL 
AGCPSYDKLL SAKNKDYMSI IRMWLGDDVK SKDYIVALQH PVTTDIKHSI KMFELTLDAL 
ISFNKRTLVL FPNIDAGSKE MVRVMRKKGI EHHPNFRAVK HVPFDQFIQL VAHAGCMIGN 
SSCGVREVGA FGTPVINLGT RQIGRETGEN VLHVRDADTQ DKILQALHLQ FGKQYPCSKI 
YGDGNAVPRI LKFLKSIDLQ EPLQKKFCFP PVKENISQDI DHILETLSAL AVDLGGTNLR 
VAIVSMKGEI VKKYTQFNPK TYEERINLIL QMCVEAAAEA VKLNCRILGV GISTGGRVNP 
REGIVLHSTK LIQEWNSVDL RTPLSDTLHL PVWVDNDGNC AALAERKFGQ GKGLENFVTL 
ITGTGIGGGI IHQHELIHGS SFCAAELGHL VVSLDGPDCS CGSHGCIEAY ASGMALQREA 
KKLHDEDLLL VEGMSVPKDE AVGALHLIQA AKLGNAKAQS ILRTAGTALG LGVVNILHTM 
NPSLVILSGV LASHYIHIVK DVIRQQALSS VQDVDVVVSD LVDPALLGAA SMVLDYTTRR 
IY

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: GNE

Associated with

Other Information

Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis. PubMed ID: 10431835

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. PubMed ID: 10330343

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

Prediction of three different isoforms of the human UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. PubMed ID: 17597614

DNA sequence and analysis of human chromosome 9. PubMed ID: 15164053

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Identification of the metabolic defect in sialuria. PubMed ID: 2808337

UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation. PubMed ID: 10334995

Initial characterization of the human central proteome. PubMed ID: 21269460

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Crystal structure of the N-acetylmannosamine kinase domain of GNE. PubMed ID: 19841673

Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition. PubMed ID: 22343627

Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis. PubMed ID: 26980148

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. PubMed ID: 10356312

Dominant inheritance of sialuria, an inborn error of feedback inhibition. PubMed ID: 11326336

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. PubMed ID: 11528398

A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. PubMed ID: 12325084

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). PubMed ID: 11916006

Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). PubMed ID: 12409274

Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. PubMed ID: 12177386

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. PubMed ID: 12473753

GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. PubMed ID: 12473769

An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. PubMed ID: 12473780

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. PubMed ID: 12497639

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. PubMed ID: 12811782

GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. PubMed ID: 12913203

Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. PubMed ID: 14707127

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. PubMed ID: 15146476

Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. PubMed ID: 16503651