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UniProtKB - Q9Y223 (GLCNE_HUMAN)

Entry version 178 (02 Jun 2021)
Sequence version 1 (01 Nov 1999)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei477Substrate1
Binding sitei489Substrate1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei5171 Publication1
Binding sitei517Substrate1
Binding sitei566Substrate1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi569Zinc1
Binding sitei569Substrate1
Metal bindingi579Zinc1
Metal bindingi581Zinc1
Metal bindingi586Zinc1
Binding sitei588Substrate1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi411 – 420ATP10
Nucleotide bindingi543 – 552ATP10

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.7.1.60, 2681
3.2.1.183, 2681
5.1.3.14, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y223

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-4085001, Sialic acid metabolism
R-HSA-4085011, Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00630

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GNE
Synonyms:GLCNE
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:23657, GNE

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603824, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y223

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000159921.14

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02177127P → S in NM. 1 PublicationCorresponds to variant dbSNP:rs1554664064EnsemblClinVar.1
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:rs769215411EnsemblClinVar.1
Natural variantiVAR_021774171M → V in NM. 1 PublicationCorresponds to variant dbSNP:rs121908634EnsemblClinVar.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:rs539332585EnsemblClinVar.1
Natural variantiVAR_017946200I → F in NM. 1 PublicationCorresponds to variant dbSNP:rs369328625EnsemblClinVar.1
Natural variantiVAR_021777206G → S in NM; moderate phenotype with unusual involvement of quadriceps. 1 PublicationCorresponds to variant dbSNP:rs766266918EnsemblClinVar.1
Natural variantiVAR_021778216V → A in NM. 1 PublicationCorresponds to variant dbSNP:rs779694939EnsemblClinVar.1
Natural variantiVAR_017947225D → N in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908630EnsemblClinVar.1
Natural variantiVAR_017948246R → Q in NM. 4 PublicationsCorresponds to variant dbSNP:rs121908629EnsemblClinVar.1
Natural variantiVAR_017949246R → W in NM. 1 PublicationCorresponds to variant dbSNP:rs773729410EnsemblClinVar.1
Natural variantiVAR_017953303C → V in NM; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs121908633EnsemblClinVar.1
Natural variantiVAR_021779306R → Q in NM. 1 PublicationCorresponds to variant dbSNP:rs1455785164EnsemblClinVar.1
Natural variantiVAR_021780331V → A in NM. 1 Publication1
Natural variantiVAR_017954378D → Y in NM. 2 PublicationsCorresponds to variant dbSNP:rs199877522EnsemblClinVar.1
Natural variantiVAR_017955460A → V in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908631EnsemblClinVar.1
Natural variantiVAR_021781472I → T in NM. 2 Publications1
Natural variantiVAR_021782519N → S in NM. 1 PublicationCorresponds to variant dbSNP:rs1554658910EnsemblClinVar.1
Natural variantiVAR_017956524A → V in NM. 1 PublicationCorresponds to variant dbSNP:rs764698870EnsemblClinVar.1
Natural variantiVAR_017957528F → C in NM. 1 PublicationCorresponds to variant dbSNP:rs986773986EnsemblClinVar.1
Natural variantiVAR_017958557I → T in NM. 1 PublicationCorresponds to variant dbSNP:rs886043979EnsemblClinVar.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:rs121908625EnsemblClinVar.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:rs387906347EnsemblClinVar.1
Natural variantiVAR_021784630A → T in NM. 1 PublicationCorresponds to variant dbSNP:rs1382191649Ensembl.1
Natural variantiVAR_017962631A → T in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908626EnsemblClinVar.1
Natural variantiVAR_017963631A → V in NM. 4 PublicationsCorresponds to variant dbSNP:rs62541771EnsemblClinVar.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:rs28937594EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		10020

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		GNE

MalaCards human disease database

More...MalaCardsi		GNE
MIMi269921, phenotype
600737, phenotype
605820, phenotype

Open Targets

More...OpenTargetsi		ENSG00000159921

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		602, GNE myopathy
3166, Sialuria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134987566

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y223, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4523504

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GNE

Domain mapping of disease mutations (DMDM)

More...DMDMi		45476991

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000957161 – 722Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinaseAdd BLAST722

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by PKC.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y223

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y223

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y223

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9Y223

PeptideAtlas

More...PeptideAtlasi		Q9Y223

PRoteomics IDEntifications database

More...PRIDEi		Q9Y223

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		38009
85604 [Q9Y223-1]
85605 [Q9Y223-2]
85606 [Q9Y223-3]
85607 [Q9Y223-4]
85608 [Q9Y223-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y223

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q9Y223

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y223

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000159921, Expressed in nasal cavity epithelium and 243 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y223, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000159921, Tissue enhanced (liver, salivary gland)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer and homohexamer.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q9Y223
With#Exp.IntAct
ACTN1 [P12814]3EBI-4291090,EBI-351710
ADAMTSL4 - isoform 3 [Q6UY14-3]3EBI-4291090,EBI-10173507
GTPBP3 [Q969Y2]3EBI-4291090,EBI-740290
KRT31 [Q15323]3EBI-4291090,EBI-948001
KRTAP10-5 [P60370]3EBI-4291090,EBI-10172150
KRTAP10-7 [P60409]3EBI-4291090,EBI-10172290
KRTAP10-8 [P60410]3EBI-4291090,EBI-10171774
KRTAP10-9 [P60411]3EBI-4291090,EBI-10172052
KRTAP4-12 [Q9BQ66]3EBI-4291090,EBI-739863
KRTAP5-9 [P26371]3EBI-4291090,EBI-3958099
KRTAP9-2 [Q9BYQ4]3EBI-4291090,EBI-1044640
NOTCH2NLA [Q7Z3S9]4EBI-4291090,EBI-945833
SPRY2 [O43597]3EBI-4291090,EBI-742487
Isoform 2 [Q9Y223-2]
With#Exp.IntAct
ADAMTSL4 - isoform 3 [Q6UY14-3]3EBI-11975289,EBI-10173507
C22orf39 [Q6P5X5]3EBI-11975289,EBI-7317823
CFP [P27918]3EBI-11975289,EBI-9038570
CYSRT1 [A8MQ03]3EBI-11975289,EBI-3867333
ECM1 [Q16610]3EBI-11975289,EBI-947964
EGFL7 [Q9UHF1]3EBI-11975289,EBI-949532
GRN [P28799]6EBI-11975289,EBI-747754
HOXA1 [P49639]5EBI-11975289,EBI-740785
KPRP [Q5T749]3EBI-11975289,EBI-10981970
KRT31 [Q15323]3EBI-11975289,EBI-948001
KRT34 [O76011]3EBI-11975289,EBI-1047093
KRT40 [Q6A162]3EBI-11975289,EBI-10171697
KRT83 [P78385]3EBI-11975289,EBI-10221390
KRT85 [P78386]3EBI-11975289,EBI-1049371
KRT86 [O43790]3EBI-11975289,EBI-9996498
KRTAP1-1 [Q07627]3EBI-11975289,EBI-11959885
KRTAP10-7 [P60409]3EBI-11975289,EBI-10172290
KRTAP10-8 [P60410]5EBI-11975289,EBI-10171774
KRTAP11-1 [Q8IUC1]3EBI-11975289,EBI-1052037
KRTAP12-3 [P60328]3EBI-11975289,EBI-11953334
KRTAP13-2 [Q52LG2]3EBI-11975289,EBI-11953846
KRTAP13-3 [Q3SY46]3EBI-11975289,EBI-10241252
KRTAP17-1 [Q9BYP8]3EBI-11975289,EBI-11988175
KRTAP19-2 [Q3LHN2]5EBI-11975289,EBI-12196745
KRTAP19-7 [Q3SYF9]3EBI-11975289,EBI-10241353
KRTAP3-1 [Q9BYR8]3EBI-11975289,EBI-9996449
KRTAP3-3 [Q9BYR6]3EBI-11975289,EBI-3957694
KRTAP4-1 [A0A087WY89]3EBI-11975289,EBI-11957260
KRTAP4-11 [Q9BYQ6]3EBI-11975289,EBI-10302392
KRTAP4-4 [Q9BYR3]3EBI-11975289,EBI-11958132
KRTAP5-9 [P26371]3EBI-11975289,EBI-3958099
KRTAP6-1 [Q3LI64]3EBI-11975289,EBI-12111050
KRTAP6-2 [Q3LI66]3EBI-11975289,EBI-11962084
KRTAP9-2 [Q9BYQ4]3EBI-11975289,EBI-1044640
KRTAP9-3 [Q9BYQ3]3EBI-11975289,EBI-1043191
KRTAP9-8 [Q9BYQ0]3EBI-11975289,EBI-11958364
MDFI [Q99750]3EBI-11975289,EBI-724076
NID2 [Q8IV28]3EBI-11975289,EBI-10261509
NOTCH2NLC [P0DPK4]3EBI-11975289,EBI-22310682
PLA2G10 [O15496]3EBI-11975289,EBI-726466
SPRY1 [O43609]3EBI-11975289,EBI-3866665
SPRY3 [O43610]3EBI-11975289,EBI-12290641
TRIM27 [P14373]3EBI-11975289,EBI-719493
TRIM42 [Q8IWZ5]3EBI-11975289,EBI-5235829
TRIP6 [Q15654]3EBI-11975289,EBI-742327
TSPAN4 [O14817]3EBI-11975289,EBI-8652667
VWC2 [Q2TAL6]3EBI-11975289,EBI-11957238
WDR83 [Q9BRX9]3EBI-11975289,EBI-7705033
WFS1 [O76024]3EBI-11975289,EBI-720609
WWOX - isoform 5 [Q9NZC7-5]3EBI-11975289,EBI-12040603

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115337, 83 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y223, 64 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000379839

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q9Y223

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y223, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9Y223

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9Y223

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – ?UDP-N-acetylglucosamine 2-epimerase
Regioni406 – 722N-acetylmannosamine kinaseAdd BLAST317

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QUGI, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000017246

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_023411_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y223

Identification of Orthologs from Complete Genome Data

More...OMAi		VNPREGV

Database of Orthologous Groups

More...OrthoDBi		225119at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y223

TreeFam database of animal gene trees

More...TreeFami		TF332239

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR043129, ATPase_NBD
IPR000600, ROK
IPR020004, UDP-GlcNAc_Epase
IPR003331, UDP_GlcNAc_Epimerase_2_dom

The PANTHER Classification System

More...PANTHERi		PTHR18964, PTHR18964, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02350, Epimerase_2, 1 hit
PF00480, ROK, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53067, SSF53067, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR03568, NeuC_NnaA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A7I2SU25A0A7I2SU25_HUMAN
Bifunctional UDP-N-acetylglucosamin...
GNE
663Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAH12414 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1554664064EnsemblClinVar.1
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:rs769215411EnsemblClinVar.1
Natural variantiVAR_021774171M → V in NM. 1 PublicationCorresponds to variant dbSNP:rs121908634EnsemblClinVar.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:rs539332585EnsemblClinVar.1
Natural variantiVAR_017946200I → F in NM. 1 PublicationCorresponds to variant dbSNP:rs369328625EnsemblClinVar.1
Natural variantiVAR_021777206G → S in NM; moderate phenotype with unusual involvement of quadriceps. 1 PublicationCorresponds to variant dbSNP:rs766266918EnsemblClinVar.1
Natural variantiVAR_021778216V → A in NM. 1 PublicationCorresponds to variant dbSNP:rs779694939EnsemblClinVar.1
Natural variantiVAR_017947225D → N in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908630EnsemblClinVar.1
Natural variantiVAR_017948246R → Q in NM. 4 PublicationsCorresponds to variant dbSNP:rs121908629EnsemblClinVar.1
Natural variantiVAR_017949246R → W in NM. 1 PublicationCorresponds to variant dbSNP:rs773729410EnsemblClinVar.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:rs121908633EnsemblClinVar.1
Natural variantiVAR_021779306R → Q in NM. 1 PublicationCorresponds to variant dbSNP:rs1455785164EnsemblClinVar.1
Natural variantiVAR_021780331V → A in NM. 1 Publication1
Natural variantiVAR_017954378D → Y in NM. 2 PublicationsCorresponds to variant dbSNP:rs199877522EnsemblClinVar.1
Natural variantiVAR_017955460A → V in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908631EnsemblClinVar.1
Natural variantiVAR_021781472I → T in NM. 2 Publications1
Natural variantiVAR_021782519N → S in NM. 1 PublicationCorresponds to variant dbSNP:rs1554658910EnsemblClinVar.1
Natural variantiVAR_017956524A → V in NM. 1 PublicationCorresponds to variant dbSNP:rs764698870EnsemblClinVar.1
Natural variantiVAR_017957528F → C in NM. 1 PublicationCorresponds to variant dbSNP:rs986773986EnsemblClinVar.1
Natural variantiVAR_017958557I → T in NM. 1 PublicationCorresponds to variant dbSNP:rs886043979EnsemblClinVar.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:rs121908625EnsemblClinVar.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:rs387906347EnsemblClinVar.1
Natural variantiVAR_021784630A → T in NM. 1 PublicationCorresponds to variant dbSNP:rs1382191649Ensembl.1
Natural variantiVAR_017962631A → T in NM. 3 PublicationsCorresponds to variant dbSNP:rs121908626EnsemblClinVar.1
Natural variantiVAR_017963631A → V in NM. 4 PublicationsCorresponds to variant dbSNP:rs62541771EnsemblClinVar.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:rs28937594EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS47965.1 [Q9Y223-2]
CCDS55308.1 [Q9Y223-5]
CCDS55309.1 [Q9Y223-4]
CCDS6602.1 [Q9Y223-1]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000396594; ENSP00000379839; ENSG00000159921 [Q9Y223-2]
ENST00000447283; ENSP00000414760; ENSG00000159921 [Q9Y223-4]
ENST00000539208; ENSP00000445117; ENSG00000159921 [Q9Y223-5]
ENST00000642385; ENSP00000494141; ENSG00000159921 [Q9Y223-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10020

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10020

UCSC genome browser

More...UCSCi		uc010mlg.5, human [Q9Y223-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]
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
NP_005467.1, NM_005476.5 [Q9Y223-1]
XP_016869656.1, XM_017014167.1 [Q9Y223-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...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[»]
SMRiQ9Y223
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115337, 83 interactors
IntActiQ9Y223, 64 interactors
STRINGi9606.ENSP00000379839

Chemistry databases

BindingDBiQ9Y223
ChEMBLiCHEMBL4523504

PTM databases

iPTMnetiQ9Y223
MetOSiteiQ9Y223
PhosphoSitePlusiQ9Y223

Genetic variation databases

BioMutaiGNE
DMDMi45476991

Proteomic databases

EPDiQ9Y223
jPOSTiQ9Y223
MassIVEiQ9Y223
PaxDbiQ9Y223
PeptideAtlasiQ9Y223
PRIDEiQ9Y223
ProteomicsDBi38009
85604 [Q9Y223-1]
85605 [Q9Y223-2]
85606 [Q9Y223-3]
85607 [Q9Y223-4]
85608 [Q9Y223-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2058, 241 antibodies

The DNASU plasmid repository

More...DNASUi		10020

Genome annotation databases

EnsembliENST00000396594; ENSP00000379839; ENSG00000159921 [Q9Y223-2]
ENST00000447283; ENSP00000414760; ENSG00000159921 [Q9Y223-4]
ENST00000539208; ENSP00000445117; ENSG00000159921 [Q9Y223-5]
ENST00000642385; ENSP00000494141; ENSG00000159921 [Q9Y223-1]
GeneIDi10020
KEGGihsa:10020
UCSCiuc010mlg.5, human [Q9Y223-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10020
DisGeNETi10020

GeneCards: human genes, protein and diseases

More...GeneCardsi		GNE
GeneReviewsiGNE
HGNCiHGNC:23657, GNE
HPAiENSG00000159921, Tissue enhanced (liver, salivary gland)
MalaCardsiGNE
MIMi269921, phenotype
600737, phenotype
603824, gene
605820, phenotype
neXtProtiNX_Q9Y223
OpenTargetsiENSG00000159921
Orphaneti602, GNE myopathy
3166, Sialuria
PharmGKBiPA134987566
VEuPathDBiHostDB:ENSG00000159921.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QUGI, Eukaryota
GeneTreeiENSGT00390000017246
HOGENOMiCLU_023411_0_0_1
InParanoidiQ9Y223
OMAiVNPREGV
OrthoDBi225119at2759
PhylomeDBiQ9Y223
TreeFamiTF332239

Enzyme and pathway databases

UniPathwayiUPA00630
BRENDAi2.7.1.60, 2681
3.2.1.183, 2681
5.1.3.14, 2681
PathwayCommonsiQ9Y223
ReactomeiR-HSA-4085001, Sialic acid metabolism
R-HSA-4085011, Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10020, 31 hits in 1004 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GNE, human
EvolutionaryTraceiQ9Y223

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GNE_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		10020
PharosiQ9Y223, Tbio

Protein Ontology

More...PROi		PR:Q9Y223
RNActiQ9Y223, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000159921, Expressed in nasal cavity epithelium and 243 other tissues
GenevisibleiQ9Y223, HS

Family and domain databases

InterProiView protein in InterPro
IPR043129, ATPase_NBD
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
SUPFAMiSSF53067, SSF53067, 1 hit
TIGRFAMsiTIGR03568, NeuC_NnaA, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGLCNE_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y223
Secondary accession number(s): A6PZH2
, A6PZH3, A7UNU7, B2R6E1, B7Z372, B7Z428, D3DRP7, F5H499, H0YFA7, Q0VA94
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: November 1, 1999
Last modified: June 2, 2021
This is version 178 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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