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Protein

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Gene

GNE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.By similarity1 Publication

Catalytic activityi

UDP-N-acetyl-alpha-D-glucosamine + H2O = N-acetyl-D-mannosamine + UDP.
ATP + N-acyl-D-mannosamine = ADP + N-acyl-D-mannosamine 6-phosphate.

Enzyme regulationi

Allosterically regulated (Probable); feedback inhibited by cytidine monophosphate-N-acetylneuraminic acid (CMP-Neu5Ac), the end product of neuraminic acid biosynthesis. Activity is dependent on oligomerization. The monomer is inactive, whereas the dimer catalyzes only the phosphorylation of N-acetylmannosamine; the hexamer is fully active for both enzyme activities (By similarity). Up-regulated after PKC-dependent phosphorylation.By similarity1 Publication

Pathwayi: N-acetylneuraminate biosynthesis

This protein is involved in the pathway N-acetylneuraminate biosynthesis, which is part of Amino-sugar metabolism.
View all proteins of this organism that are known to be involved in the pathway N-acetylneuraminate biosynthesis and in Amino-sugar metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei477Substrate1
Binding sitei489Substrate1
Active sitei5171 Publication1
Binding sitei517Substrate1
Binding sitei566Substrate1
Metal bindingi569Zinc1
Binding sitei569Substrate1
Metal bindingi579Zinc1
Metal bindingi581Zinc1
Metal bindingi586Zinc1
Binding sitei588Substrate1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi411 – 420ATP10
Nucleotide bindingi543 – 552ATP10

GO - Molecular functioni

GO - Biological processi

  • cell adhesion Source: ProtInc
  • N-acetylglucosamine biosynthetic process Source: UniProtKB-UniPathway
  • N-acetylneuraminate metabolic process Source: ProtInc
  • UDP-N-acetylglucosamine metabolic process Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Kinase, Transferase

Keywords - Ligandi

ATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:HS08435-MONOMER.
BRENDAi2.7.1.60. 2681.
3.2.1.183. 2681.
5.1.3.14. 2681.
ReactomeiR-HSA-4085001. Sialic acid metabolism.
UniPathwayiUPA00630.

Names & Taxonomyi

Protein namesi
Recommended name:
Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Alternative name(s):
UDP-GlcNAc-2-epimerase/ManAc kinase
Including the following 2 domains:
UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) (EC:3.2.1.183)
Alternative name(s):
UDP-GlcNAc-2-epimerase
Uridine diphosphate-N-acetylglucosamine-2-epimerase
N-acetylmannosamine kinase (EC:2.7.1.60)
Alternative name(s):
ManAc kinase
Gene namesi
Name:GNE
Synonyms:GLCNE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:23657. GNE.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: ProtInc
  • cytosol Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Sialuria (SIALURIA)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionIn sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant.
See also OMIM:269921
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017950263R → L in SIALURIA; strong reduction of feedback inhibition by CMP-Neu5Ac. 1 PublicationCorresponds to variant rs121908623dbSNPEnsembl.1
Natural variantiVAR_017951266R → Q in SIALURIA; abolishes feedback inhibition by CMP-Neu5Ac. 3 PublicationsCorresponds to variant rs121908622dbSNPEnsembl.1
Nonaka myopathy (NM)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive muscular disorder, allelic to inclusion body myopathy 2. It is characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood, and sparing of the quadriceps muscles. As the inclusion body myopathy, NM is histologically characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens.
See also OMIM:605820
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02177127P → S in NM. 1 Publication1
Natural variantiVAR_01794536P → L in NM. 1 Publication1
Natural variantiVAR_021772132H → Q in NM. 1 Publication1
Natural variantiVAR_021773162R → C in NM. 1 PublicationCorresponds to variant rs769215411dbSNPEnsembl.1
Natural variantiVAR_021774171M → V in NM. 1 PublicationCorresponds to variant rs121908634dbSNPEnsembl.1
Natural variantiVAR_021775176D → V in NM. 1 PublicationCorresponds to variant rs139425890dbSNPEnsembl.1
Natural variantiVAR_021776177R → C in NM. 1 PublicationCorresponds to variant rs539332585dbSNPEnsembl.1
Natural variantiVAR_017946200I → F in NM. 1 PublicationCorresponds to variant rs369328625dbSNPEnsembl.1
Natural variantiVAR_021777206G → S in NM; moderate phenotype with unusual involvement of quadriceps. 1 PublicationCorresponds to variant rs766266918dbSNPEnsembl.1
Natural variantiVAR_021778216V → A in NM. 1 PublicationCorresponds to variant rs779694939dbSNPEnsembl.1
Natural variantiVAR_017947225D → N in NM. 3 PublicationsCorresponds to variant rs121908630dbSNPEnsembl.1
Natural variantiVAR_017948246R → Q in NM. 4 PublicationsCorresponds to variant rs121908629dbSNPEnsembl.1
Natural variantiVAR_017949246R → W in NM. 1 PublicationCorresponds to variant rs773729410dbSNPEnsembl.1
Natural variantiVAR_017953303C → V in NM; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant rs121908633dbSNPEnsembl.1
Natural variantiVAR_021779306R → Q in NM. 1 Publication1
Natural variantiVAR_021780331V → A in NM. 1 Publication1
Natural variantiVAR_017954378D → Y in NM. 2 PublicationsCorresponds to variant rs199877522dbSNPEnsembl.1
Natural variantiVAR_017955460A → V in NM. 3 PublicationsCorresponds to variant rs121908631dbSNPEnsembl.1
Natural variantiVAR_021781472I → T in NM. 2 Publications1
Natural variantiVAR_021782519N → S in NM. 1 Publication1
Natural variantiVAR_017956524A → V in NM. 1 PublicationCorresponds to variant rs764698870dbSNPEnsembl.1
Natural variantiVAR_017957528F → C in NM. 1 Publication1
Natural variantiVAR_017958557I → T in NM. 1 Publication1
Natural variantiVAR_017959572V → L in NM. 7 PublicationsCorresponds to variant rs121908632dbSNPEnsembl.1
Natural variantiVAR_017960576G → E in NM. 3 PublicationsCorresponds to variant rs121908625dbSNPEnsembl.1
Natural variantiVAR_017961587I → T in NM. 1 PublicationCorresponds to variant rs748949603dbSNPEnsembl.1
Natural variantiVAR_021783600A → T in NM. 1 PublicationCorresponds to variant rs387906347dbSNPEnsembl.1
Natural variantiVAR_021784630A → T in NM. 1 Publication1
Natural variantiVAR_017962631A → T in NM. 3 PublicationsCorresponds to variant rs121908626dbSNPEnsembl.1
Natural variantiVAR_017963631A → V in NM. 4 PublicationsCorresponds to variant rs62541771dbSNPEnsembl.1
Natural variantiVAR_017964675Y → H in NM. 1 Publication1
Natural variantiVAR_017965696V → M in NM. 3 PublicationsCorresponds to variant rs121908627dbSNPEnsembl.1
Natural variantiVAR_017966712M → T in NM. 4 PublicationsCorresponds to variant rs28937594dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10020.
MalaCardsiGNE.
MIMi269921. phenotype.
600737. phenotype.
605820. phenotype.
OpenTargetsiENSG00000159921.
Orphaneti602. Distal myopathy, Nonaka type.
3166. Sialuria.
PharmGKBiPA134987566.

Polymorphism and mutation databases

BioMutaiGNE.
DMDMi45476991.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000957161 – 722Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinaseAdd BLAST722

Post-translational modificationi

Phosphorylated by PKC.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y223.
PaxDbiQ9Y223.
PeptideAtlasiQ9Y223.
PRIDEiQ9Y223.

PTM databases

iPTMnetiQ9Y223.
PhosphoSitePlusiQ9Y223.

Expressioni

Tissue specificityi

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.3 Publications

Gene expression databases

BgeeiENSG00000159921.
CleanExiHS_GNE.
GenevisibleiQ9Y223. HS.

Organism-specific databases

HPAiHPA007045.
HPA027258.

Interactioni

Subunit structurei

Homodimer and homohexamer.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ADAMTSL4Q6UY14-33EBI-4291090,EBI-10173507
GTPBP3Q969Y23EBI-4291090,EBI-740290
KRT31Q153233EBI-4291090,EBI-948001
KRTAP10-5P603703EBI-4291090,EBI-10172150
KRTAP10-7P604093EBI-4291090,EBI-10172290
KRTAP10-8P604103EBI-4291090,EBI-10171774
KRTAP10-9P604113EBI-4291090,EBI-10172052
KRTAP4-12Q9BQ663EBI-4291090,EBI-739863
KRTAP5-9P263713EBI-4291090,EBI-3958099
KRTAP9-2Q9BYQ43EBI-4291090,EBI-1044640
NOTCH2NLQ7Z3S93EBI-4291090,EBI-945833
SPRY2O435973EBI-4291090,EBI-742487

Protein-protein interaction databases

BioGridi115337. 27 interactors.
IntActiQ9Y223. 23 interactors.
STRINGi9606.ENSP00000379839.

Structurei

Secondary structure

1722
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi10 – 16Combined sources7
Helixi19 – 33Combined sources15
Turni36 – 38Combined sources3
Beta strandi39 – 46Combined sources8
Helixi47 – 50Combined sources4
Helixi52 – 54Combined sources3
Helixi58 – 63Combined sources6
Beta strandi68 – 72Combined sources5
Beta strandi77 – 80Combined sources4
Helixi81 – 102Combined sources22
Beta strandi105 – 113Combined sources9
Helixi114 – 125Combined sources12
Beta strandi129 – 134Combined sources6
Helixi142 – 153Combined sources12
Beta strandi155 – 161Combined sources7
Helixi162 – 170Combined sources9
Helixi175 – 177Combined sources3
Beta strandi178 – 180Combined sources3
Helixi185 – 189Combined sources5
Helixi197 – 205Combined sources9
Beta strandi215 – 218Combined sources4
Helixi223 – 225Combined sources3
Helixi226 – 243Combined sources18
Beta strandi247 – 250Combined sources4
Helixi258 – 267Combined sources10
Helixi270 – 272Combined sources3
Beta strandi276 – 280Combined sources5
Helixi284 – 292Combined sources9
Beta strandi295 – 299Combined sources5
Helixi302 – 306Combined sources5
Helixi308 – 311Combined sources4
Beta strandi315 – 320Combined sources6
Turni321 – 324Combined sources4
Beta strandi331 – 335Combined sources5
Helixi340 – 350Combined sources11
Helixi366 – 376Combined sources11
Beta strandi406 – 414Combined sources9
Beta strandi416 – 425Combined sources10
Beta strandi430 – 437Combined sources8
Helixi442 – 462Combined sources21
Beta strandi465 – 479Combined sources15
Turni480 – 483Combined sources4
Beta strandi484 – 487Combined sources4
Beta strandi492 – 494Combined sources3
Beta strandi496 – 499Combined sources4
Helixi501 – 508Combined sources8
Beta strandi512 – 516Combined sources5
Helixi517 – 527Combined sources11
Turni530 – 533Combined sources4
Beta strandi537 – 552Combined sources16
Helixi567 – 569Combined sources3
Beta strandi571 – 574Combined sources4
Beta strandi584 – 586Combined sources3
Helixi587 – 591Combined sources5
Helixi593 – 605Combined sources13
Helixi624 – 632Combined sources9
Helixi636 – 659Combined sources24
Beta strandi663 – 669Combined sources7
Helixi672 – 686Combined sources15
Helixi689 – 691Combined sources3
Beta strandi695 – 698Combined sources4
Helixi704 – 716Combined sources13

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YHWX-ray1.64A406-720[»]
2YHYX-ray1.82A406-720[»]
2YI1X-ray2.15A406-720[»]
3EO3X-ray2.84A/B/C406-720[»]
4ZHTX-ray2.69A/B/C/D1-405[»]
ProteinModelPortaliQ9Y223.
SMRiQ9Y223.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y223.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – ?UDP-N-acetylglucosamine 2-epimerase
Regioni406 – 722N-acetylmannosamine kinaseAdd BLAST317

Sequence similaritiesi

In the N-terminal section; belongs to the UDP-N-acetylglucosamine 2-epimerase family.Curated
In the C-terminal section; belongs to the ROK (NagC/XylR) family.Curated

Phylogenomic databases

eggNOGiENOG410IE3W. Eukaryota.
COG0381. LUCA.
COG1940. LUCA.
GeneTreeiENSGT00390000017246.
HOGENOMiHOG000008254.
HOVERGENiHBG051733.
InParanoidiQ9Y223.
KOiK12409.
OMAiIAMCEDH.
OrthoDBiEOG091G025K.
PhylomeDBiQ9Y223.
TreeFamiTF332239.

Family and domain databases

CDDicd03786. GT1_UDP-GlcNAc_2-Epimerase. 1 hit.
InterProiIPR000600. ROK.
IPR020004. UDP-GlcNAc_Epase.
IPR003331. UDP_GlcNAc_Epimerase_2_dom.
[Graphical view]
PfamiPF02350. Epimerase_2. 1 hit.
PF00480. ROK. 1 hit.
[Graphical view]
TIGRFAMsiTIGR03568. NeuC_NnaA. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y223-1) [UniParc]FASTAAdd to basket
Also known as: GNE1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEKNGNNRKL RVCVATCNRA DYSKLAPIMF GIKTEPEFFE LDVVVLGSHL
60 70 80 90 100
IDDYGNTYRM IEQDDFDINT RLHTIVRGED EAAMVESVGL ALVKLPDVLN
110 120 130 140 150
RLKPDIMIVH GDRFDALALA TSAALMNIRI LHIEGGEVSG TIDDSIRHAI
160 170 180 190 200
TKLAHYHVCC TRSAEQHLIS MCEDHDRILL AGCPSYDKLL SAKNKDYMSI
210 220 230 240 250
IRMWLGDDVK SKDYIVALQH PVTTDIKHSI KMFELTLDAL ISFNKRTLVL
260 270 280 290 300
FPNIDAGSKE MVRVMRKKGI EHHPNFRAVK HVPFDQFIQL VAHAGCMIGN
310 320 330 340 350
SSCGVREVGA FGTPVINLGT RQIGRETGEN VLHVRDADTQ DKILQALHLQ
360 370 380 390 400
FGKQYPCSKI YGDGNAVPRI LKFLKSIDLQ EPLQKKFCFP PVKENISQDI
410 420 430 440 450
DHILETLSAL AVDLGGTNLR VAIVSMKGEI VKKYTQFNPK TYEERINLIL
460 470 480 490 500
QMCVEAAAEA VKLNCRILGV GISTGGRVNP REGIVLHSTK LIQEWNSVDL
510 520 530 540 550
RTPLSDTLHL PVWVDNDGNC AALAERKFGQ GKGLENFVTL ITGTGIGGGI
560 570 580 590 600
IHQHELIHGS SFCAAELGHL VVSLDGPDCS CGSHGCIEAY ASGMALQREA
610 620 630 640 650
KKLHDEDLLL VEGMSVPKDE AVGALHLIQA AKLGNAKAQS ILRTAGTALG
660 670 680 690 700
LGVVNILHTM NPSLVILSGV LASHYIHIVK DVIRQQALSS VQDVDVVVSD
710 720
LVDPALLGAA SMVLDYTTRR IY
Length:722
Mass (Da):79,275
Last modified:November 1, 1999 - v1
Checksum:i4D7D049B06B00077
GO
Isoform 2 (identifier: Q9Y223-2) [UniParc]FASTAAdd to basket
Also known as: GNE2

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → METYGYLQRESCFQGPHELYFKNLSKRNKQIM

Show »
Length:753
Mass (Da):83,066
Checksum:i034C9CEFB1A403DC
GO
Isoform 3 (identifier: Q9Y223-3) [UniParc]FASTAAdd to basket
Also known as: GNE3

The sequence of this isoform differs from the canonical sequence as follows:
     1-55: MEKNGNNRKL...LGSHLIDDYG → MPIGDCSVAA...RGSHAFKDLI

Show »
Length:717
Mass (Da):78,579
Checksum:i75BFC62D575958F4
GO
Isoform 4 (identifier: Q9Y223-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     471-544: Missing.

Show »
Length:648
Mass (Da):71,278
Checksum:i21829292EB9597F8
GO
Isoform 5 (identifier: Q9Y223-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: Missing.
     206-256: Missing.

Show »
Length:612
Mass (Da):66,784
Checksum:iB32F395B16DB782C
GO

Sequence cautioni

The sequence BAH12414 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti338D → G in BAH12108 (PubMed:14702039).Curated1
Sequence conflicti359K → R in BAH12414 (PubMed:14702039).Curated1
Sequence conflicti364G → V in BAH12108 (PubMed:14702039).Curated1
Sequence conflicti382P → L in BAH12108 (PubMed:14702039).Curated1
Sequence conflicti498V → A in BAH12108 (PubMed:14702039).Curated1
Sequence conflicti521A → V in BAH12414 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02177127P → S in NM. 1 Publication1
Natural variantiVAR_01794536P → L in NM. 1 Publication1
Natural variantiVAR_021772132H → Q in NM. 1 Publication1
Natural variantiVAR_021773162R → C in NM. 1 PublicationCorresponds to variant rs769215411dbSNPEnsembl.1
Natural variantiVAR_021774171M → V in NM. 1 PublicationCorresponds to variant rs121908634dbSNPEnsembl.1
Natural variantiVAR_021775176D → V in NM. 1 PublicationCorresponds to variant rs139425890dbSNPEnsembl.1
Natural variantiVAR_021776177R → C in NM. 1 PublicationCorresponds to variant rs539332585dbSNPEnsembl.1
Natural variantiVAR_017946200I → F in NM. 1 PublicationCorresponds to variant rs369328625dbSNPEnsembl.1
Natural variantiVAR_021777206G → S in NM; moderate phenotype with unusual involvement of quadriceps. 1 PublicationCorresponds to variant rs766266918dbSNPEnsembl.1
Natural variantiVAR_021778216V → A in NM. 1 PublicationCorresponds to variant rs779694939dbSNPEnsembl.1
Natural variantiVAR_017947225D → N in NM. 3 PublicationsCorresponds to variant rs121908630dbSNPEnsembl.1
Natural variantiVAR_017948246R → Q in NM. 4 PublicationsCorresponds to variant rs121908629dbSNPEnsembl.1
Natural variantiVAR_017949246R → W in NM. 1 PublicationCorresponds to variant rs773729410dbSNPEnsembl.1
Natural variantiVAR_017950263R → L in SIALURIA; strong reduction of feedback inhibition by CMP-Neu5Ac. 1 PublicationCorresponds to variant rs121908623dbSNPEnsembl.1
Natural variantiVAR_017951266R → Q in SIALURIA; abolishes feedback inhibition by CMP-Neu5Ac. 3 PublicationsCorresponds to variant rs121908622dbSNPEnsembl.1
Natural variantiVAR_017952266R → W in sialuria. 1 PublicationCorresponds to variant rs121908621dbSNPEnsembl.1
Natural variantiVAR_017953303C → V in NM; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant rs121908633dbSNPEnsembl.1
Natural variantiVAR_021779306R → Q in NM. 1 Publication1
Natural variantiVAR_021780331V → A in NM. 1 Publication1
Natural variantiVAR_017954378D → Y in NM. 2 PublicationsCorresponds to variant rs199877522dbSNPEnsembl.1
Natural variantiVAR_017955460A → V in NM. 3 PublicationsCorresponds to variant rs121908631dbSNPEnsembl.1
Natural variantiVAR_021781472I → T in NM. 2 Publications1
Natural variantiVAR_021782519N → S in NM. 1 Publication1
Natural variantiVAR_017956524A → V in NM. 1 PublicationCorresponds to variant rs764698870dbSNPEnsembl.1
Natural variantiVAR_017957528F → C in NM. 1 Publication1
Natural variantiVAR_017958557I → T in NM. 1 Publication1
Natural variantiVAR_017959572V → L in NM. 7 PublicationsCorresponds to variant rs121908632dbSNPEnsembl.1
Natural variantiVAR_017960576G → E in NM. 3 PublicationsCorresponds to variant rs121908625dbSNPEnsembl.1
Natural variantiVAR_017961587I → T in NM. 1 PublicationCorresponds to variant rs748949603dbSNPEnsembl.1
Natural variantiVAR_021783600A → T in NM. 1 PublicationCorresponds to variant rs387906347dbSNPEnsembl.1
Natural variantiVAR_021784630A → T in NM. 1 Publication1
Natural variantiVAR_017962631A → T in NM. 3 PublicationsCorresponds to variant rs121908626dbSNPEnsembl.1
Natural variantiVAR_017963631A → V in NM. 4 PublicationsCorresponds to variant rs62541771dbSNPEnsembl.1
Natural variantiVAR_017964675Y → H in NM. 1 Publication1
Natural variantiVAR_017965696V → M in NM. 3 PublicationsCorresponds to variant rs121908627dbSNPEnsembl.1
Natural variantiVAR_017966712M → T in NM. 4 PublicationsCorresponds to variant rs28937594dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0439751 – 59Missing in isoform 5. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_0410281 – 55MEKNG…IDDYG → MPIGDCSVAAKPRKQLLCSL FQTTLGYRARASGWKPMVIC RGSHAFKDLI in isoform 3. 2 PublicationsAdd BLAST55
Alternative sequenceiVSP_0410271M → METYGYLQRESCFQGPHELY FKNLSKRNKQIM in isoform 2. 1 Publication1
Alternative sequenceiVSP_043976206 – 256Missing in isoform 5. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_043474471 – 544Missing in isoform 4. 1 PublicationAdd BLAST74

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ238764 mRNA. Translation: CAB42607.1.
AF051852 mRNA. Translation: AAD32251.1.
AF155663 mRNA. Translation: AAD38197.1.
AF317635 Genomic DNA. Translation: AAG31661.1.
EU093084 mRNA. Translation: ABU55403.1.
AK295562 mRNA. Translation: BAH12108.1.
AK296687 mRNA. Translation: BAH12414.1. Different initiation.
AK312539 mRNA. Translation: BAG35438.1.
AM697708 mRNA. Translation: CAM91424.1.
AM697709 mRNA. Translation: CAM91425.1.
AL158830 Genomic DNA. No translation available.
CH471071 Genomic DNA. Translation: EAW58307.1.
CH471071 Genomic DNA. Translation: EAW58309.1.
BC121179 mRNA. Translation: AAI21180.1.
CCDSiCCDS47965.1. [Q9Y223-2]
CCDS55308.1. [Q9Y223-5]
CCDS55309.1. [Q9Y223-4]
CCDS55310.1. [Q9Y223-3]
CCDS6602.1. [Q9Y223-1]
RefSeqiNP_001121699.1. NM_001128227.2. [Q9Y223-2]
NP_001177312.1. NM_001190383.1. [Q9Y223-4]
NP_001177313.1. NM_001190384.1. [Q9Y223-5]
NP_001177317.1. NM_001190388.1. [Q9Y223-3]
NP_005467.1. NM_005476.5. [Q9Y223-1]
XP_016869656.1. XM_017014167.1. [Q9Y223-1]
UniGeneiHs.5920.

Genome annotation databases

EnsembliENST00000377902; ENSP00000367134; ENSG00000159921. [Q9Y223-1]
ENST00000396594; ENSP00000379839; ENSG00000159921. [Q9Y223-2]
ENST00000447283; ENSP00000414760; ENSG00000159921. [Q9Y223-4]
ENST00000539208; ENSP00000445117; ENSG00000159921. [Q9Y223-5]
ENST00000539815; ENSP00000439155; ENSG00000159921. [Q9Y223-1]
ENST00000543356; ENSP00000437765; ENSG00000159921. [Q9Y223-3]
GeneIDi10020.
KEGGihsa:10020.
UCSCiuc010mlg.5. human. [Q9Y223-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ238764 mRNA. Translation: CAB42607.1.
AF051852 mRNA. Translation: AAD32251.1.
AF155663 mRNA. Translation: AAD38197.1.
AF317635 Genomic DNA. Translation: AAG31661.1.
EU093084 mRNA. Translation: ABU55403.1.
AK295562 mRNA. Translation: BAH12108.1.
AK296687 mRNA. Translation: BAH12414.1. Different initiation.
AK312539 mRNA. Translation: BAG35438.1.
AM697708 mRNA. Translation: CAM91424.1.
AM697709 mRNA. Translation: CAM91425.1.
AL158830 Genomic DNA. No translation available.
CH471071 Genomic DNA. Translation: EAW58307.1.
CH471071 Genomic DNA. Translation: EAW58309.1.
BC121179 mRNA. Translation: AAI21180.1.
CCDSiCCDS47965.1. [Q9Y223-2]
CCDS55308.1. [Q9Y223-5]
CCDS55309.1. [Q9Y223-4]
CCDS55310.1. [Q9Y223-3]
CCDS6602.1. [Q9Y223-1]
RefSeqiNP_001121699.1. NM_001128227.2. [Q9Y223-2]
NP_001177312.1. NM_001190383.1. [Q9Y223-4]
NP_001177313.1. NM_001190384.1. [Q9Y223-5]
NP_001177317.1. NM_001190388.1. [Q9Y223-3]
NP_005467.1. NM_005476.5. [Q9Y223-1]
XP_016869656.1. XM_017014167.1. [Q9Y223-1]
UniGeneiHs.5920.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YHWX-ray1.64A406-720[»]
2YHYX-ray1.82A406-720[»]
2YI1X-ray2.15A406-720[»]
3EO3X-ray2.84A/B/C406-720[»]
4ZHTX-ray2.69A/B/C/D1-405[»]
ProteinModelPortaliQ9Y223.
SMRiQ9Y223.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115337. 27 interactors.
IntActiQ9Y223. 23 interactors.
STRINGi9606.ENSP00000379839.

PTM databases

iPTMnetiQ9Y223.
PhosphoSitePlusiQ9Y223.

Polymorphism and mutation databases

BioMutaiGNE.
DMDMi45476991.

Proteomic databases

EPDiQ9Y223.
PaxDbiQ9Y223.
PeptideAtlasiQ9Y223.
PRIDEiQ9Y223.

Protocols and materials databases

DNASUi10020.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377902; ENSP00000367134; ENSG00000159921. [Q9Y223-1]
ENST00000396594; ENSP00000379839; ENSG00000159921. [Q9Y223-2]
ENST00000447283; ENSP00000414760; ENSG00000159921. [Q9Y223-4]
ENST00000539208; ENSP00000445117; ENSG00000159921. [Q9Y223-5]
ENST00000539815; ENSP00000439155; ENSG00000159921. [Q9Y223-1]
ENST00000543356; ENSP00000437765; ENSG00000159921. [Q9Y223-3]
GeneIDi10020.
KEGGihsa:10020.
UCSCiuc010mlg.5. human. [Q9Y223-1]

Organism-specific databases

CTDi10020.
DisGeNETi10020.
GeneCardsiGNE.
GeneReviewsiGNE.
HGNCiHGNC:23657. GNE.
HPAiHPA007045.
HPA027258.
MalaCardsiGNE.
MIMi269921. phenotype.
600737. phenotype.
603824. gene.
605820. phenotype.
neXtProtiNX_Q9Y223.
OpenTargetsiENSG00000159921.
Orphaneti602. Distal myopathy, Nonaka type.
3166. Sialuria.
PharmGKBiPA134987566.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE3W. Eukaryota.
COG0381. LUCA.
COG1940. LUCA.
GeneTreeiENSGT00390000017246.
HOGENOMiHOG000008254.
HOVERGENiHBG051733.
InParanoidiQ9Y223.
KOiK12409.
OMAiIAMCEDH.
OrthoDBiEOG091G025K.
PhylomeDBiQ9Y223.
TreeFamiTF332239.

Enzyme and pathway databases

UniPathwayiUPA00630.
BioCyciZFISH:HS08435-MONOMER.
BRENDAi2.7.1.60. 2681.
3.2.1.183. 2681.
5.1.3.14. 2681.
ReactomeiR-HSA-4085001. Sialic acid metabolism.

Miscellaneous databases

ChiTaRSiGNE. human.
EvolutionaryTraceiQ9Y223.
GeneWikiiGNE_(gene).
GenomeRNAii10020.
PROiQ9Y223.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159921.
CleanExiHS_GNE.
GenevisibleiQ9Y223. HS.

Family and domain databases

CDDicd03786. GT1_UDP-GlcNAc_2-Epimerase. 1 hit.
InterProiIPR000600. ROK.
IPR020004. UDP-GlcNAc_Epase.
IPR003331. UDP_GlcNAc_Epimerase_2_dom.
[Graphical view]
PfamiPF02350. Epimerase_2. 1 hit.
PF00480. ROK. 1 hit.
[Graphical view]
TIGRFAMsiTIGR03568. NeuC_NnaA. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiGLCNE_HUMAN
AccessioniPrimary (citable) accession number: Q9Y223
Secondary accession number(s): A6PZH2
, A6PZH3, A7UNU7, B2R6E1, B7Z372, B7Z428, D3DRP7, F5H499, H0YFA7, Q0VA94
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: November 1, 1999
Last modified: November 30, 2016
This is version 147 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Allosteric enzyme, Complete proteome, Multifunctional enzyme, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.