Gene Gene information from NCBI Gene database.
Entrez ID 55577
Gene name N-acetylglucosamine kinase
Gene symbol NAGK
Synonyms (NCBI Gene)
GNKHSA242910
Chromosome 2
Chromosome location 2p13.3
Summary This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by R
miRNA miRNA information provided by mirtarbase database.
536
miRTarBase ID miRNA Experiments Reference
MIRT028866 hsa-miR-26b-5p Microarray 19088304
MIRT050916 hsa-miR-17-5p CLASH 23622248
MIRT527037 hsa-miR-6790-3p HITS-CLIP 23824327
MIRT527034 hsa-miR-6499-3p HITS-CLIP 23824327
MIRT674284 hsa-miR-3135b HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 16189514, 21516116, 25416956, 25910212, 27107012, 29892012, 31515488, 32296183, 32814053, 37511433
GO:0005524 Function ATP binding IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606828 17174 ENSG00000124357
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJ70
Protein name N-acetyl-D-glucosamine kinase (N-acetylglucosamine kinase) (EC 2.7.1.59) (GlcNAc kinase) (Muramyl dipeptide kinase) (EC 2.7.1.-) (N-acetyl-D-mannosamine kinase) (EC 2.7.1.60)
Protein function Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate (PubMed:22692205). Involved in the N-glycolylneuraminic acid (Neu5Gc) degrada
PDB 2CH5 , 2CH6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01869 BcrAD_BadFG 7 284 BadF/BadG/BcrA/BcrD ATPase family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10824116}.
Sequence
Sequence length 344
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Biosynthesis of nucleotide sugars
  Synthesis of UDP-N-acetyl-glucosamine
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Malignant neoplasm of prostate Prostate cancer CTD_human_DG 17013881
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 32896084 Associate
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Neurodegenerative disorder Pubtator 37511433 Associate
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic Neoplasms CTD_human_DG 17013881
★★☆☆☆
Found in Text Mining + Unknown/Other Associations