GNPNAT1 (glucosamine-phosphate N-acetyltransferase 1)

2017-08-01  

Identity

HGNC
GNPNAT1
LOCATION
14q22.1
LOCUSID
64841
ALIAS
GNA1,GNPNAT,Gpnat1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64841
MIM: 616510
HGNC: 19980
Ensembl: ENSG00000100522

Variants:

dbSNP: 64841
ClinVar: 64841
TCGA: ENSG00000100522
COSMIC: GNPNAT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100522ENST00000216410Q96EK6
ENSG00000100522ENST00000216410A0A024R649
ENSG00000100522ENST00000554230G3V5E4
ENSG00000100522ENST00000557604G3V4W4
ENSG00000100522ENST00000650397Q96EK6
ENSG00000100522ENST00000650397A0A024R649

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Synthesis of UDP-N-acetyl-glucosamineREACTOMER-HSA-446210

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
372151112023GNPNAT1 is a potential biomarker correlated with immune infiltration and immunotherapy outcome in breast cancer.5
373874222023GNPNAT1 promotes the stemness of breast cancer and serves as a potential prognostic biomarker.1
372151112023GNPNAT1 is a potential biomarker correlated with immune infiltration and immunotherapy outcome in breast cancer.5
373874222023GNPNAT1 promotes the stemness of breast cancer and serves as a potential prognostic biomarker.1
325913452021Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.3
336860192021Potential role of glucosamine-phosphate N-acetyltransferase 1 in the development of lung adenocarcinoma.7
325913452021Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.3
336860192021Potential role of glucosamine-phosphate N-acetyltransferase 1 in the development of lung adenocarcinoma.7
331788362020Independent Prognostic Potential of GNPNAT1 in Lung Adenocarcinoma.18
331788362020Independent Prognostic Potential of GNPNAT1 in Lung Adenocarcinoma.18
269356562016Human acetyl-CoA:glucosamine-6-phosphate N-acetyltransferase 1 has a relaxed donor specificity and transfers acyl groups up to four carbons in length.4
269356562016Human acetyl-CoA:glucosamine-6-phosphate N-acetyltransferase 1 has a relaxed donor specificity and transfers acyl groups up to four carbons in length.4
186758102008Acceptor substrate binding revealed by crystal structure of human glucosamine-6-phosphate N-acetyltransferase 1.20
186758102008Acceptor substrate binding revealed by crystal structure of human glucosamine-6-phosphate N-acetyltransferase 1.20

Citation

Dessen P

GNPNAT1 (glucosamine-phosphate N-acetyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56977/gnpnat1-(glucosamine-phosphate-n-acetyltransferase-1)