UniProtKB - Q9Y223 (GLCNE_HUMAN)
Protein
Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Gene
GNE
Organism
Homo sapiens (Human)
Status
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
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
: N-acetylneuraminate biosynthesis Pathwayi
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 477 | Substrate | 1 | |
Binding sitei | 489 | Substrate | 1 | |
Active sitei | 517 | 1 Publication | 1 | |
Binding sitei | 517 | Substrate | 1 | |
Binding sitei | 566 | Substrate | 1 | |
Metal bindingi | 569 | Zinc | 1 | |
Binding sitei | 569 | Substrate | 1 | |
Metal bindingi | 579 | Zinc | 1 | |
Metal bindingi | 581 | Zinc | 1 | |
Metal bindingi | 586 | Zinc | 1 | |
Binding sitei | 588 | Substrate | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 411 – 420 | ATP | 10 | |
Nucleotide bindingi | 543 – 552 | ATP | 10 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- hydrolase activity, hydrolyzing O-glycosyl compounds Source: InterPro
- metal ion binding Source: UniProtKB-KW
- N-acylmannosamine kinase activity Source: GO_Central
- UDP-N-acetylglucosamine 2-epimerase activity Source: GO_Central
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
Keywordsi
Molecular function | Allosteric enzyme, Hydrolase, Kinase, Multifunctional enzyme, Transferase |
Ligand | ATP-binding, Metal-binding, Nucleotide-binding, Zinc |
Enzyme and pathway databases
BRENDAi | 2.7.1.60, 2681 3.2.1.183, 2681 5.1.3.14, 2681 |
PathwayCommonsi | Q9Y223 |
Reactomei | R-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 kinaseAlternative name(s): UDP-GlcNAc-2-epimerase/ManAc kinase Including the following 2 domains: |
Gene namesi | Name:GNE Synonyms:GLCNE |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:23657, GNE |
MIMi | 603824, gene |
neXtProti | NX_Q9Y223 |
VEuPathDBi | HostDB:ENSG00000159921.14 |
Pathology & Biotechi
Involvement in diseasei
Sialuria (SIALURIA)4 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017950 | 263 | R → L in SIALURIA; strong reduction of feedback inhibition by CMP-Neu5Ac. 1 PublicationCorresponds to variant dbSNP:rs121908623EnsemblClinVar. | 1 | |
Natural variantiVAR_017951 | 266 | R → 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 variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021771 | 27 | P → S in NM. 1 PublicationCorresponds to variant dbSNP:rs1554664064EnsemblClinVar. | 1 | |
Natural variantiVAR_017945 | 36 | P → L in NM. 1 Publication | 1 | |
Natural variantiVAR_021772 | 132 | H → Q in NM. 1 Publication | 1 | |
Natural variantiVAR_021773 | 162 | R → C in NM. 1 PublicationCorresponds to variant dbSNP:rs769215411EnsemblClinVar. | 1 | |
Natural variantiVAR_021774 | 171 | M → V in NM. 1 PublicationCorresponds to variant dbSNP:rs121908634EnsemblClinVar. | 1 | |
Natural variantiVAR_021775 | 176 | D → V in NM. 1 PublicationCorresponds to variant dbSNP:rs139425890EnsemblClinVar. | 1 | |
Natural variantiVAR_021776 | 177 | R → C in NM. 1 PublicationCorresponds to variant dbSNP:rs539332585EnsemblClinVar. | 1 | |
Natural variantiVAR_017946 | 200 | I → F in NM. 1 PublicationCorresponds to variant dbSNP:rs369328625EnsemblClinVar. | 1 | |
Natural variantiVAR_021777 | 206 | G → S in NM; moderate phenotype with unusual involvement of quadriceps. 1 PublicationCorresponds to variant dbSNP:rs766266918EnsemblClinVar. | 1 | |
Natural variantiVAR_021778 | 216 | V → A in NM. 1 PublicationCorresponds to variant dbSNP:rs779694939EnsemblClinVar. | 1 | |
Natural variantiVAR_017947 | 225 | D → N in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908630EnsemblClinVar. | 1 | |
Natural variantiVAR_017948 | 246 | R → Q in NM. 4 PublicationsCorresponds to variant dbSNP:rs121908629EnsemblClinVar. | 1 | |
Natural variantiVAR_017949 | 246 | R → W in NM. 1 PublicationCorresponds to variant dbSNP:rs773729410EnsemblClinVar. | 1 | |
Natural variantiVAR_017953 | 303 | C → V in NM; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs121908633EnsemblClinVar. | 1 | |
Natural variantiVAR_021779 | 306 | R → Q in NM. 1 PublicationCorresponds to variant dbSNP:rs1455785164EnsemblClinVar. | 1 | |
Natural variantiVAR_021780 | 331 | V → A in NM. 1 Publication | 1 | |
Natural variantiVAR_017954 | 378 | D → Y in NM. 2 PublicationsCorresponds to variant dbSNP:rs199877522EnsemblClinVar. | 1 | |
Natural variantiVAR_017955 | 460 | A → V in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908631EnsemblClinVar. | 1 | |
Natural variantiVAR_021781 | 472 | I → T in NM. 2 Publications | 1 | |
Natural variantiVAR_021782 | 519 | N → S in NM. 1 PublicationCorresponds to variant dbSNP:rs1554658910EnsemblClinVar. | 1 | |
Natural variantiVAR_017956 | 524 | A → V in NM. 1 PublicationCorresponds to variant dbSNP:rs764698870EnsemblClinVar. | 1 | |
Natural variantiVAR_017957 | 528 | F → C in NM. 1 PublicationCorresponds to variant dbSNP:rs986773986EnsemblClinVar. | 1 | |
Natural variantiVAR_017958 | 557 | I → T in NM. 1 PublicationCorresponds to variant dbSNP:rs886043979EnsemblClinVar. | 1 | |
Natural variantiVAR_017959 | 572 | V → L in NM. 7 PublicationsCorresponds to variant dbSNP:rs121908632EnsemblClinVar. | 1 | |
Natural variantiVAR_017960 | 576 | G → E in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908625EnsemblClinVar. | 1 | |
Natural variantiVAR_017961 | 587 | I → T in NM. 1 PublicationCorresponds to variant dbSNP:rs748949603EnsemblClinVar. | 1 | |
Natural variantiVAR_021783 | 600 | A → T in NM. 1 PublicationCorresponds to variant dbSNP:rs387906347EnsemblClinVar. | 1 | |
Natural variantiVAR_021784 | 630 | A → T in NM. 1 PublicationCorresponds to variant dbSNP:rs1382191649Ensembl. | 1 | |
Natural variantiVAR_017962 | 631 | A → T in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908626EnsemblClinVar. | 1 | |
Natural variantiVAR_017963 | 631 | A → V in NM. 4 PublicationsCorresponds to variant dbSNP:rs62541771EnsemblClinVar. | 1 | |
Natural variantiVAR_017964 | 675 | Y → H in NM. 1 PublicationCorresponds to variant dbSNP:rs1191857860Ensembl. | 1 | |
Natural variantiVAR_017965 | 696 | V → M in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908627EnsemblClinVar. | 1 | |
Natural variantiVAR_017966 | 712 | M → T in NM. 4 PublicationsCorresponds to variant dbSNP:rs28937594EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 10020 |
GeneReviewsi | GNE |
MalaCardsi | GNE |
MIMi | 269921, phenotype 600737, phenotype 605820, phenotype |
OpenTargetsi | ENSG00000159921 |
Orphaneti | 602, GNE myopathy 3166, Sialuria |
PharmGKBi | PA134987566 |
Miscellaneous databases
Pharosi | Q9Y223, Tbio |
Genetic variation databases
BioMutai | GNE |
DMDMi | 45476991 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000095716 | 1 – 722 | Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinaseAdd BLAST | 722 |
Post-translational modificationi
Phosphorylated by PKC.By similarity
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9Y223 |
jPOSTi | Q9Y223 |
MassIVEi | Q9Y223 |
PaxDbi | Q9Y223 |
PeptideAtlasi | Q9Y223 |
PRIDEi | Q9Y223 |
ProteomicsDBi | 38009 85604 [Q9Y223-1] 85605 [Q9Y223-2] 85606 [Q9Y223-3] 85607 [Q9Y223-4] 85608 [Q9Y223-5] |
PTM databases
iPTMneti | Q9Y223 |
MetOSitei | Q9Y223 |
PhosphoSitePlusi | Q9Y223 |
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
Bgeei | ENSG00000159921, Expressed in nasal cavity epithelium and 242 other tissues |
Genevisiblei | Q9Y223, HS |
Organism-specific databases
HPAi | ENSG00000159921, Tissue enhanced (liver, salivary gland) |
Interactioni
Subunit structurei
Homodimer and homohexamer.
2 PublicationsBinary interactionsi
Q9Y223
Isoform 2 [Q9Y223-2]
Protein-protein interaction databases
BioGRIDi | 115337, 82 interactors |
IntActi | Q9Y223, 63 interactors |
STRINGi | 9606.ENSP00000379839 |
Miscellaneous databases
RNActi | Q9Y223, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9Y223 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9Y223 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – ? | UDP-N-acetylglucosamine 2-epimerase | ||
Regioni | 406 – 722 | N-acetylmannosamine kinaseAdd BLAST | 317 |
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
eggNOGi | ENOG502QUGI, Eukaryota |
GeneTreei | ENSGT00390000017246 |
HOGENOMi | CLU_023411_0_0_1 |
InParanoidi | Q9Y223 |
OMAi | VNPREGV |
OrthoDBi | 225119at2759 |
PhylomeDBi | Q9Y223 |
TreeFami | TF332239 |
Family and domain databases
InterProi | View protein in InterPro IPR043129, ATPase_NBD IPR000600, ROK IPR020004, UDP-GlcNAc_Epase IPR003331, UDP_GlcNAc_Epimerase_2_dom |
PANTHERi | PTHR18964, PTHR18964, 1 hit |
Pfami | View protein in Pfam PF02350, Epimerase_2, 1 hit PF00480, ROK, 1 hit |
SUPFAMi | SSF53067, SSF53067, 1 hit |
TIGRFAMsi | TIGR03568, NeuC_NnaA, 1 hit |
s (5)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q9Y223-1) [UniParc]FASTAAdd to basket
Also known as: GNE1
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Sequence cautioni
The sequence BAH12414 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 338 | D → G in BAH12108 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 359 | K → R in BAH12414 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 364 | G → V in BAH12108 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 382 | P → L in BAH12108 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 498 | V → A in BAH12108 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 521 | A → V in BAH12414 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021771 | 27 | P → S in NM. 1 PublicationCorresponds to variant dbSNP:rs1554664064EnsemblClinVar. | 1 | |
Natural variantiVAR_017945 | 36 | P → L in NM. 1 Publication | 1 | |
Natural variantiVAR_021772 | 132 | H → Q in NM. 1 Publication | 1 | |
Natural variantiVAR_021773 | 162 | R → C in NM. 1 PublicationCorresponds to variant dbSNP:rs769215411EnsemblClinVar. | 1 | |
Natural variantiVAR_021774 | 171 | M → V in NM. 1 PublicationCorresponds to variant dbSNP:rs121908634EnsemblClinVar. | 1 | |
Natural variantiVAR_021775 | 176 | D → V in NM. 1 PublicationCorresponds to variant dbSNP:rs139425890EnsemblClinVar. | 1 | |
Natural variantiVAR_021776 | 177 | R → C in NM. 1 PublicationCorresponds to variant dbSNP:rs539332585EnsemblClinVar. | 1 | |
Natural variantiVAR_017946 | 200 | I → F in NM. 1 PublicationCorresponds to variant dbSNP:rs369328625EnsemblClinVar. | 1 | |
Natural variantiVAR_021777 | 206 | G → S in NM; moderate phenotype with unusual involvement of quadriceps. 1 PublicationCorresponds to variant dbSNP:rs766266918EnsemblClinVar. | 1 | |
Natural variantiVAR_021778 | 216 | V → A in NM. 1 PublicationCorresponds to variant dbSNP:rs779694939EnsemblClinVar. | 1 | |
Natural variantiVAR_017947 | 225 | D → N in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908630EnsemblClinVar. | 1 | |
Natural variantiVAR_017948 | 246 | R → Q in NM. 4 PublicationsCorresponds to variant dbSNP:rs121908629EnsemblClinVar. | 1 | |
Natural variantiVAR_017949 | 246 | R → W in NM. 1 PublicationCorresponds to variant dbSNP:rs773729410EnsemblClinVar. | 1 | |
Natural variantiVAR_017950 | 263 | R → L in SIALURIA; strong reduction of feedback inhibition by CMP-Neu5Ac. 1 PublicationCorresponds to variant dbSNP:rs121908623EnsemblClinVar. | 1 | |
Natural variantiVAR_017951 | 266 | R → Q in SIALURIA; abolishes feedback inhibition by CMP-Neu5Ac. 3 PublicationsCorresponds to variant dbSNP:rs121908622EnsemblClinVar. | 1 | |
Natural variantiVAR_017952 | 266 | R → W in sialuria. 1 PublicationCorresponds to variant dbSNP:rs121908621EnsemblClinVar. | 1 | |
Natural variantiVAR_017953 | 303 | C → V in NM; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs121908633EnsemblClinVar. | 1 | |
Natural variantiVAR_021779 | 306 | R → Q in NM. 1 PublicationCorresponds to variant dbSNP:rs1455785164EnsemblClinVar. | 1 | |
Natural variantiVAR_021780 | 331 | V → A in NM. 1 Publication | 1 | |
Natural variantiVAR_017954 | 378 | D → Y in NM. 2 PublicationsCorresponds to variant dbSNP:rs199877522EnsemblClinVar. | 1 | |
Natural variantiVAR_017955 | 460 | A → V in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908631EnsemblClinVar. | 1 | |
Natural variantiVAR_021781 | 472 | I → T in NM. 2 Publications | 1 | |
Natural variantiVAR_021782 | 519 | N → S in NM. 1 PublicationCorresponds to variant dbSNP:rs1554658910EnsemblClinVar. | 1 | |
Natural variantiVAR_017956 | 524 | A → V in NM. 1 PublicationCorresponds to variant dbSNP:rs764698870EnsemblClinVar. | 1 | |
Natural variantiVAR_017957 | 528 | F → C in NM. 1 PublicationCorresponds to variant dbSNP:rs986773986EnsemblClinVar. | 1 | |
Natural variantiVAR_017958 | 557 | I → T in NM. 1 PublicationCorresponds to variant dbSNP:rs886043979EnsemblClinVar. | 1 | |
Natural variantiVAR_017959 | 572 | V → L in NM. 7 PublicationsCorresponds to variant dbSNP:rs121908632EnsemblClinVar. | 1 | |
Natural variantiVAR_017960 | 576 | G → E in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908625EnsemblClinVar. | 1 | |
Natural variantiVAR_017961 | 587 | I → T in NM. 1 PublicationCorresponds to variant dbSNP:rs748949603EnsemblClinVar. | 1 | |
Natural variantiVAR_021783 | 600 | A → T in NM. 1 PublicationCorresponds to variant dbSNP:rs387906347EnsemblClinVar. | 1 | |
Natural variantiVAR_021784 | 630 | A → T in NM. 1 PublicationCorresponds to variant dbSNP:rs1382191649Ensembl. | 1 | |
Natural variantiVAR_017962 | 631 | A → T in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908626EnsemblClinVar. | 1 | |
Natural variantiVAR_017963 | 631 | A → V in NM. 4 PublicationsCorresponds to variant dbSNP:rs62541771EnsemblClinVar. | 1 | |
Natural variantiVAR_017964 | 675 | Y → H in NM. 1 PublicationCorresponds to variant dbSNP:rs1191857860Ensembl. | 1 | |
Natural variantiVAR_017965 | 696 | V → M in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908627EnsemblClinVar. | 1 | |
Natural variantiVAR_017966 | 712 | M → T in NM. 4 PublicationsCorresponds to variant dbSNP:rs28937594EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043975 | 1 – 59 | Missing in isoform 5. 1 PublicationAdd BLAST | 59 | |
Alternative sequenceiVSP_041028 | 1 – 55 | MEKNG…IDDYG → MPIGDCSVAAKPRKQLLCSL FQTTLGYRARASGWKPMVIC RGSHAFKDLI in isoform 3. 2 PublicationsAdd BLAST | 55 | |
Alternative sequenceiVSP_041027 | 1 | M → METYGYLQRESCFQGPHELY FKNLSKRNKQIM in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_043976 | 206 – 256 | Missing in isoform 5. 1 PublicationAdd BLAST | 51 | |
Alternative sequenceiVSP_043474 | 471 – 544 | Missing in isoform 4. 1 PublicationAdd BLAST | 74 |
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 |
CCDSi | CCDS47965.1 [Q9Y223-2] CCDS55308.1 [Q9Y223-5] CCDS55309.1 [Q9Y223-4] CCDS6602.1 [Q9Y223-1] |
RefSeqi | NP_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 NP_005467.1, NM_005476.5 [Q9Y223-1] XP_016869656.1, XM_017014167.1 [Q9Y223-1] |
Genome annotation databases
Ensembli | ENST00000396594; ENSP00000379839; ENSG00000159921 [Q9Y223-2] ENST00000447283; ENSP00000414760; ENSG00000159921 [Q9Y223-4] ENST00000539208; ENSP00000445117; ENSG00000159921 [Q9Y223-5] ENST00000539815; ENSP00000439155; ENSG00000159921 [Q9Y223-1] ENST00000642385; ENSP00000494141; ENSG00000159921 [Q9Y223-1] |
GeneIDi | 10020 |
KEGGi | hsa:10020 |
UCSCi | uc010mlg.5, human [Q9Y223-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS47965.1 [Q9Y223-2] CCDS55308.1 [Q9Y223-5] CCDS55309.1 [Q9Y223-4] CCDS6602.1 [Q9Y223-1] |
RefSeqi | NP_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 NP_005467.1, NM_005476.5 [Q9Y223-1] XP_016869656.1, XM_017014167.1 [Q9Y223-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2YHW | X-ray | 1.64 | A | 406-720 | [»] | |
2YHY | X-ray | 1.82 | A | 406-720 | [»] | |
2YI1 | X-ray | 2.15 | A | 406-720 | [»] | |
3EO3 | X-ray | 2.84 | A/B/C | 406-720 | [»] | |
4ZHT | X-ray | 2.69 | A/B/C/D | 1-405 | [»] | |
SMRi | Q9Y223 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115337, 82 interactors |
IntActi | Q9Y223, 63 interactors |
STRINGi | 9606.ENSP00000379839 |
PTM databases
iPTMneti | Q9Y223 |
MetOSitei | Q9Y223 |
PhosphoSitePlusi | Q9Y223 |
Genetic variation databases
BioMutai | GNE |
DMDMi | 45476991 |
Proteomic databases
EPDi | Q9Y223 |
jPOSTi | Q9Y223 |
MassIVEi | Q9Y223 |
PaxDbi | Q9Y223 |
PeptideAtlasi | Q9Y223 |
PRIDEi | Q9Y223 |
ProteomicsDBi | 38009 85604 [Q9Y223-1] 85605 [Q9Y223-2] 85606 [Q9Y223-3] 85607 [Q9Y223-4] 85608 [Q9Y223-5] |
Protocols and materials databases
Antibodypediai | 2058, 236 antibodies |
DNASUi | 10020 |
Genome annotation databases
Ensembli | ENST00000396594; ENSP00000379839; ENSG00000159921 [Q9Y223-2] ENST00000447283; ENSP00000414760; ENSG00000159921 [Q9Y223-4] ENST00000539208; ENSP00000445117; ENSG00000159921 [Q9Y223-5] ENST00000539815; ENSP00000439155; ENSG00000159921 [Q9Y223-1] ENST00000642385; ENSP00000494141; ENSG00000159921 [Q9Y223-1] |
GeneIDi | 10020 |
KEGGi | hsa:10020 |
UCSCi | uc010mlg.5, human [Q9Y223-1] |
Organism-specific databases
CTDi | 10020 |
DisGeNETi | 10020 |
GeneCardsi | GNE |
GeneReviewsi | GNE |
HGNCi | HGNC:23657, GNE |
HPAi | ENSG00000159921, Tissue enhanced (liver, salivary gland) |
MalaCardsi | GNE |
MIMi | 269921, phenotype 600737, phenotype 603824, gene 605820, phenotype |
neXtProti | NX_Q9Y223 |
OpenTargetsi | ENSG00000159921 |
Orphaneti | 602, GNE myopathy 3166, Sialuria |
PharmGKBi | PA134987566 |
VEuPathDBi | HostDB:ENSG00000159921.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QUGI, Eukaryota |
GeneTreei | ENSGT00390000017246 |
HOGENOMi | CLU_023411_0_0_1 |
InParanoidi | Q9Y223 |
OMAi | VNPREGV |
OrthoDBi | 225119at2759 |
PhylomeDBi | Q9Y223 |
TreeFami | TF332239 |
Enzyme and pathway databases
UniPathwayi | UPA00630 |
BRENDAi | 2.7.1.60, 2681 3.2.1.183, 2681 5.1.3.14, 2681 |
PathwayCommonsi | Q9Y223 |
Reactomei | R-HSA-4085001, Sialic acid metabolism R-HSA-4085011, Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2 |
Miscellaneous databases
BioGRID-ORCSi | 10020, 25 hits in 881 CRISPR screens |
ChiTaRSi | GNE, human |
EvolutionaryTracei | Q9Y223 |
GeneWikii | GNE_(gene) |
GenomeRNAii | 10020 |
Pharosi | Q9Y223, Tbio |
PROi | PR:Q9Y223 |
RNActi | Q9Y223, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000159921, Expressed in nasal cavity epithelium and 242 other tissues |
Genevisiblei | Q9Y223, HS |
Family and domain databases
InterProi | View protein in InterPro IPR043129, ATPase_NBD IPR000600, ROK IPR020004, UDP-GlcNAc_Epase IPR003331, UDP_GlcNAc_Epimerase_2_dom |
PANTHERi | PTHR18964, PTHR18964, 1 hit |
Pfami | View protein in Pfam PF02350, Epimerase_2, 1 hit PF00480, ROK, 1 hit |
SUPFAMi | SSF53067, SSF53067, 1 hit |
TIGRFAMsi | TIGR03568, NeuC_NnaA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GLCNE_HUMAN | |
Accessioni | Q9Y223Primary (citable) accession number: Q9Y223 Secondary accession number(s): A6PZH2 Q0VA94 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 15, 2004 |
Last sequence update: | November 1, 1999 | |
Last modified: | February 10, 2021 | |
This is version 176 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with genetic variants
List of human entries with genetic variants