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UniProtKB - Q9Y223 (GLCNE_HUMAN)

Protein

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

Gene

GNE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

Activity 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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionAllosteric enzyme, Hydrolase, Kinase, Multifunctional enzyme, Transferase
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BRENDAi2.7.1.60 2681
3.2.1.183 2681
5.1.3.14 2681
ReactomeiR-HSA-4085001 Sialic acid metabolism
R-HSA-4085011 Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
UniPathwayi
UPA00630

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000159921.14
HGNCiHGNC:23657 GNE
MIMi603824 gene
neXtProtiNX_Q9Y223

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Sialuria (SIALURIA)4 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 dbSNP:rs121908623EnsemblClinVar.1
Natural variantiVAR_017951266R → Q in SIALURIA; abolishes feedback inhibition by CMP-Neu5Ac. 3 PublicationsCorresponds to variant dbSNP:rs121908622EnsemblClinVar.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 dbSNP:rs769215411Ensembl.1
Natural variantiVAR_021774171M → V in NM. 1 PublicationCorresponds to variant dbSNP:rs121908634Ensembl.1
Natural variantiVAR_021775176D → V in NM. 1 PublicationCorresponds to variant dbSNP:rs139425890EnsemblClinVar.1
Natural variantiVAR_021776177R → C in NM. 1 PublicationCorresponds to variant dbSNP:rs539332585Ensembl.1
Natural variantiVAR_017946200I → F in NM. 1 PublicationCorresponds to variant dbSNP:rs369328625Ensembl.1
Natural variantiVAR_021777206G → S in NM; moderate phenotype with unusual involvement of quadriceps. 1 PublicationCorresponds to variant dbSNP:rs766266918Ensembl.1
Natural variantiVAR_021778216V → A in NM. 1 PublicationCorresponds to variant dbSNP:rs779694939Ensembl.1
Natural variantiVAR_017947225D → N in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908630Ensembl.1
Natural variantiVAR_017948246R → Q in NM. 4 PublicationsCorresponds to variant dbSNP:rs121908629Ensembl.1
Natural variantiVAR_017949246R → W in NM. 1 PublicationCorresponds to variant dbSNP:rs773729410Ensembl.1
Natural variantiVAR_017953303C → V in NM; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs121908633Ensembl.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 dbSNP:rs199877522Ensembl.1
Natural variantiVAR_017955460A → V in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908631Ensembl.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 dbSNP:rs764698870EnsemblClinVar.1
Natural variantiVAR_017957528F → C in NM. 1 PublicationCorresponds to variant dbSNP:rs986773986Ensembl.1
Natural variantiVAR_017958557I → T in NM. 1 PublicationCorresponds to variant dbSNP:rs886043979Ensembl.1
Natural variantiVAR_017959572V → L in NM. 7 PublicationsCorresponds to variant dbSNP:rs121908632EnsemblClinVar.1
Natural variantiVAR_017960576G → E in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908625Ensembl.1
Natural variantiVAR_017961587I → T in NM. 1 PublicationCorresponds to variant dbSNP:rs748949603EnsemblClinVar.1
Natural variantiVAR_021783600A → T in NM. 1 PublicationCorresponds to variant dbSNP:rs387906347Ensembl.1
Natural variantiVAR_021784630A → T in NM. 1 Publication1
Natural variantiVAR_017962631A → T in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908626Ensembl.1
Natural variantiVAR_017963631A → V in NM. 4 PublicationsCorresponds to variant dbSNP:rs62541771Ensembl.1
Natural variantiVAR_017964675Y → H in NM. 1 PublicationCorresponds to variant dbSNP:rs1191857860Ensembl.1
Natural variantiVAR_017965696V → M in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908627EnsemblClinVar.1
Natural variantiVAR_017966712M → T in NM. 4 PublicationsCorresponds to variant dbSNP:rs28937594Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10020
GeneReviewsiGNE
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
ProteomicsDBi85604
85605 [Q9Y223-2]
85606 [Q9Y223-3]
85607 [Q9Y223-4]
85608 [Q9Y223-5]

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 Expressed in 230 organ(s), highest expression level in nasal cavity epithelium
CleanExiHS_GNE
GenevisibleiQ9Y223 HS

Organism-specific databases

HPAiHPA007045
HPA027258

Interactioni

Subunit structurei

Homodimer and homohexamer.2 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi115337, 28 interactors
IntActiQ9Y223, 58 interactors
STRINGi9606.ENSP00000379839

Structurei

Secondary structure

1722
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
InterProiView protein in InterPro
IPR000600 ROK
IPR020004 UDP-GlcNAc_Epase
IPR003331 UDP_GlcNAc_Epimerase_2_dom
PANTHERiPTHR18964 PTHR18964, 1 hit
PfamiView protein in Pfam
PF02350 Epimerase_2, 1 hit
PF00480 ROK, 1 hit
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 dbSNP:rs769215411Ensembl.1
Natural variantiVAR_021774171M → V in NM. 1 PublicationCorresponds to variant dbSNP:rs121908634Ensembl.1
Natural variantiVAR_021775176D → V in NM. 1 PublicationCorresponds to variant dbSNP:rs139425890EnsemblClinVar.1
Natural variantiVAR_021776177R → C in NM. 1 PublicationCorresponds to variant dbSNP:rs539332585Ensembl.1
Natural variantiVAR_017946200I → F in NM. 1 PublicationCorresponds to variant dbSNP:rs369328625Ensembl.1
Natural variantiVAR_021777206G → S in NM; moderate phenotype with unusual involvement of quadriceps. 1 PublicationCorresponds to variant dbSNP:rs766266918Ensembl.1
Natural variantiVAR_021778216V → A in NM. 1 PublicationCorresponds to variant dbSNP:rs779694939Ensembl.1
Natural variantiVAR_017947225D → N in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908630Ensembl.1
Natural variantiVAR_017948246R → Q in NM. 4 PublicationsCorresponds to variant dbSNP:rs121908629Ensembl.1
Natural variantiVAR_017949246R → W in NM. 1 PublicationCorresponds to variant dbSNP:rs773729410Ensembl.1
Natural variantiVAR_017950263R → L in SIALURIA; strong reduction of feedback inhibition by CMP-Neu5Ac. 1 PublicationCorresponds to variant dbSNP:rs121908623EnsemblClinVar.1
Natural variantiVAR_017951266R → Q in SIALURIA; abolishes feedback inhibition by CMP-Neu5Ac. 3 PublicationsCorresponds to variant dbSNP:rs121908622EnsemblClinVar.1
Natural variantiVAR_017952266R → W in sialuria. 1 PublicationCorresponds to variant dbSNP:rs121908621EnsemblClinVar.1
Natural variantiVAR_017953303C → V in NM; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs121908633Ensembl.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 dbSNP:rs199877522Ensembl.1
Natural variantiVAR_017955460A → V in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908631Ensembl.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 dbSNP:rs764698870EnsemblClinVar.1
Natural variantiVAR_017957528F → C in NM. 1 PublicationCorresponds to variant dbSNP:rs986773986Ensembl.1
Natural variantiVAR_017958557I → T in NM. 1 PublicationCorresponds to variant dbSNP:rs886043979Ensembl.1
Natural variantiVAR_017959572V → L in NM. 7 PublicationsCorresponds to variant dbSNP:rs121908632EnsemblClinVar.1
Natural variantiVAR_017960576G → E in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908625Ensembl.1
Natural variantiVAR_017961587I → T in NM. 1 PublicationCorresponds to variant dbSNP:rs748949603EnsemblClinVar.1
Natural variantiVAR_021783600A → T in NM. 1 PublicationCorresponds to variant dbSNP:rs387906347Ensembl.1
Natural variantiVAR_021784630A → T in NM. 1 Publication1
Natural variantiVAR_017962631A → T in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908626Ensembl.1
Natural variantiVAR_017963631A → V in NM. 4 PublicationsCorresponds to variant dbSNP:rs62541771Ensembl.1
Natural variantiVAR_017964675Y → H in NM. 1 PublicationCorresponds to variant dbSNP:rs1191857860Ensembl.1
Natural variantiVAR_017965696V → M in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908627EnsemblClinVar.1
Natural variantiVAR_017966712M → T in NM. 4 PublicationsCorresponds to variant dbSNP:rs28937594Ensembl.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]
ENST00000642385; ENSP00000494141; ENSG00000159921 [Q9Y223-1]
GeneIDi10020
KEGGihsa:10020
UCSCiuc010mlg.5 human [Q9Y223-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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, 28 interactors
IntActiQ9Y223, 58 interactors
STRINGi9606.ENSP00000379839

PTM databases

iPTMnetiQ9Y223
PhosphoSitePlusiQ9Y223

Polymorphism and mutation databases

BioMutaiGNE
DMDMi45476991

Proteomic databases

EPDiQ9Y223
PaxDbiQ9Y223
PeptideAtlasiQ9Y223
PRIDEiQ9Y223
ProteomicsDBi85604
85605 [Q9Y223-2]
85606 [Q9Y223-3]
85607 [Q9Y223-4]
85608 [Q9Y223-5]

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]
ENST00000642385; ENSP00000494141; ENSG00000159921 [Q9Y223-1]
GeneIDi10020
KEGGihsa:10020
UCSCiuc010mlg.5 human [Q9Y223-1]

Organism-specific databases

CTDi10020
DisGeNETi10020
EuPathDBiHostDB:ENSG00000159921.14
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

UniPathwayi
UPA00630

BRENDAi2.7.1.60 2681
3.2.1.183 2681
5.1.3.14 2681
ReactomeiR-HSA-4085001 Sialic acid metabolism
R-HSA-4085011 Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2

Miscellaneous databases

ChiTaRSiGNE human
EvolutionaryTraceiQ9Y223
GeneWikiiGNE_(gene)
GenomeRNAii10020
PROiPR:Q9Y223
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159921 Expressed in 230 organ(s), highest expression level in nasal cavity epithelium
CleanExiHS_GNE
GenevisibleiQ9Y223 HS

Family and domain databases

CDDicd03786 GT1_UDP-GlcNAc_2-Epimerase, 1 hit
InterProiView protein in InterPro
IPR000600 ROK
IPR020004 UDP-GlcNAc_Epase
IPR003331 UDP_GlcNAc_Epimerase_2_dom
PANTHERiPTHR18964 PTHR18964, 1 hit
PfamiView protein in Pfam
PF02350 Epimerase_2, 1 hit
PF00480 ROK, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: November 1, 1999
Last modified: October 10, 2018
This is version 158 of the entry and version 1 of the sequence. See 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, Complete proteome, 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. SIMILARITY comments
    Index of protein domains and families
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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