Gene Gene information from NCBI Gene database.
Entrez ID 64841
Gene name Glucosamine-phosphate N-acetyltransferase 1
Gene symbol GNPNAT1
Synonyms (NCBI Gene)
GNA1GNPNATGpnat1RHZDAN
Chromosome 14
Chromosome location 14q22.1
miRNA miRNA information provided by mirtarbase database.
942
miRTarBase ID miRNA Experiments Reference
MIRT001366 hsa-miR-1-3p pSILAC 18668040
MIRT020656 hsa-miR-155-5p Proteomics 18668040
MIRT001366 hsa-miR-1-3p Proteomics;Other 18668040
MIRT049476 hsa-miR-92a-3p CLASH 23622248
MIRT043385 hsa-miR-331-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0004343 Function Glucosamine 6-phosphate N-acetyltransferase activity IBA
GO:0004343 Function Glucosamine 6-phosphate N-acetyltransferase activity IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616510 19980 ENSG00000100522
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96EK6
Protein name Glucosamine 6-phosphate N-acetyltransferase (EC 2.3.1.4) (Phosphoglucosamine acetylase) (Phosphoglucosamine transacetylase)
PDB 2HUZ , 2O28 , 3CXP , 3CXQ , 3CXS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00583 Acetyltransf_1 50 170 Acetyltransferase (GNAT) family Family
Sequence
Sequence length 184
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.).
8
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Rhizomelic dysplasia, Ain-Naz type Pathogenic rs2139964469 RCV001733892
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Stimulate 33178836
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 33686019, 38594917
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 37033959, 37387422
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Stimulate 37215111
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 33686019
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 39973555
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 27029739, 28280335
★☆☆☆☆
Found in Text Mining only
Hypertension Inhibit 39596173
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Stimulate 37387422
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 33178836, 33686019
★☆☆☆☆
Found in Text Mining only