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Protein Ontology report - bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human)
PR:Q9Y223 - http://purl.obolibrary.org/obo/PR_Q9Y223
 
  Protein Forms      
Ontology Information Show OBO stanza / GPI
  PRO ID
PR:Q9Y223   
  PRO namebifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) 
  Synonyms
PRO-Short-label: EXACT:hGNE
Gene-based: RELATED:GLCNE | GNE | IBM2
Other: EXACT:UDP-GlcNAc-2-epimerase/ManAc kinase (human)
  Definition"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q9Y223] 
  PRO Categoryorganism-gene 
  ParentPR:000008102 bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
PR:000029067 Homo sapiens protein
  Gene TemplateHGNC:23657 GNE (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene0                                                  Organism-Gene 1                                        
         Sequence0                                                  Organism-Sequence 13                                        
         Modification0                                                  Organism-Modification 2                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB:Q9Y223
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Protein Forms Switch to Compact View   

Category  
PRO ID
Name
Short Name
Definition
Ann. Has Annotation?

Comp. In Complex?
organism-gene


PR:Q9Y223
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human)
hGNE
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q9Y223]

organism-sequence


PR:000060435
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase sequence variant A631V (human)
hGNE/var:A631V
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that has a Val residue at the position equivalent to Ala-631 of the amino acid sequence represented by UniProtKB:Q9Y223-1. Example: UniProtKB:Q9Y223-1, Ala-631, CHEBI:30015." [PRO:DNx, Reactome:R-HSA-4088376]

organism-sequence


PR:000060739
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase sequence variant R263L (human)
hGNE/var:R263L
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that has a Leu residue at the position equivalent to Arg-263 of the amino acid sequence represented by UniProtKB:Q9Y223-1. Example: UniProtKB:Q9Y223-1, Arg-263, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-4088402]

organism-sequence


PR:000061528
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase sequence variant C303V (human)
hGNE/var:C303V
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that has a Val residue at the position equivalent to Cys-303 of the amino acid sequence represented by UniProtKB:Q9Y223-1. Example: UniProtKB:Q9Y223-1, Cys-303, CHEBI:30015." [PRO:DNx, Reactome:R-HSA-4088366]

organism-sequence


PR:000061819
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase sequence variant M712T (human)
hGNE/var:M712T
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that has a Thr residue at the position equivalent to Met-712 of the amino acid sequence represented by UniProtKB:Q9Y223-1. Example: UniProtKB:Q9Y223-1, Met-712, CHEBI:30013." [PRO:DNx, Reactome:R-HSA-4088386]

organism-sequence


PR:000062200
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase sequence variant V572L (human)
hGNE/var:V572L
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that has a Leu residue at the position equivalent to Val-572 of the amino acid sequence represented by UniProtKB:Q9Y223-1. Example: UniProtKB:Q9Y223-1, Val-572, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-4088323]

organism-sequence


PR:000062471
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase sequence variant R266Q (human)
hGNE/var:R266Q
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that has a Gln residue at the position equivalent to Arg-266 of the amino acid sequence represented by UniProtKB:Q9Y223-1. Example: UniProtKB:Q9Y223-1, Arg-266, CHEBI:30011." [PRO:DNx, Reactome:R-HSA-4088390]

organism-sequence


PR:000062720
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase sequence variant R266W (human)
hGNE/var:R266W
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that has a Trp residue at the position equivalent to Arg-266 of the amino acid sequence represented by UniProtKB:Q9Y223-1. Example: UniProtKB:Q9Y223-1, Arg-266, CHEBI:29954." [PRO:DNx, Reactome:R-HSA-4088372]

organism-sequence


PR:000063723
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase sequence variant M171V (human)
hGNE/var:M171V
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that has a Val residue at the position equivalent to Met-171 of the amino acid sequence represented by UniProtKB:Q9Y223-1. Example: UniProtKB:Q9Y223-1, Met-171, CHEBI:30015." [PRO:DNx, Reactome:R-HSA-4088351]

organism-sequence


PR:Q9Y223-1
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 1 (human)
hGNE/iso:1
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 1 that is encoded in the genome of human." [PRO:DNx]

organism-sequence


PR:Q9Y223-2
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform h2 (human)
hGNE/iso:h2
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y223-2." [PRO:DNx, UniProtKB:Q9Y223]

organism-sequence


PR:Q9Y223-3
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform h3 (human)
hGNE/iso:h3
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y223-3." [PRO:DNx, UniProtKB:Q9Y223]

organism-sequence


PR:Q9Y223-4
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform h4 (human)
hGNE/iso:h4
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y223-4." [PRO:DNx, UniProtKB:Q9Y223]

organism-sequence


PR:Q9Y223-5
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform h5 (human)
hGNE/iso:h5
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y223-5." [PRO:DNx, UniProtKB:Q9Y223]

organism-modification


PR:000077191
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase deaminated 1 (human)
hGNE/Deam:1
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that has been deaminated on the residue at the position equivalent to Asn-56 of the amino acid sequence represented by UniProtKB:Q9Y223-1. Example: UniProtKB:Q9Y223-1, Asn-56, MOD:00684." [IEDB_epitope:1573168, PRO:DNx]

organism-modification


PR:000079830
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase deaminated 2 (human)
hGNE/Deam:2
"A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that has been deaminated on the residue at the position equivalent to Asn-244 of the amino acid sequence represented by UniProtKB:Q9Y223-1. Example: UniProtKB:Q9Y223-1, Asn-244, MOD:00684." [IEDB_epitope:1982574, PRO:DNx]