NAT8 (N-acetyltransferase 8 (putative))

2016-08-01  

Identity

HGNC
NAT8
LOCATION
2p13.1
LOCUSID
9027
ALIAS
ATase2,CCNAT,CML1,GLA,Hcml1,TSC501,TSC510

Other Information

Locus ID:

NCBI: 9027
MIM: 606716
HGNC: 18069
Ensembl: ENSG00000144035

Variants:

dbSNP: 9027
ClinVar: 9027
TCGA: ENSG00000144035
COSMIC: NAT8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144035ENST00000272425Q9UHE5

Expression (GTEx)

0
50
100
150
200
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
Glutathione metabolismKEGGko00480
Glutathione metabolismKEGGhsa00480
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225

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
203831452010Genetic loci influencing kidney function and chronic kidney disease.107
203851092010Methamphetamine-induced neuronal protein NAT8L is the NAA biosynthetic enzyme: implications for specialized acetyl coenzyme A metabolism in the CNS.29
268193452016Role of Increased n-acetylaspartate Levels in Cancer.18
203927012010Molecular identification of NAT8 as the enzyme that acetylates cysteine S-conjugates to mercapturic acids.16
222677342012Biochemical inhibition of the acetyltransferases ATase1 and ATase2 reduces β-secretase (BACE1) levels and Aβ generation.11
184026702008N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study.6
184026702008N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study.6
253019442014The endoplasmic reticulum-based acetyltransferases, ATase1 and ATase2, associate with the oligosaccharyltransferase to acetylate correctly folded polypeptides.6

Citation

Dessen P

NAT8 (N-acetyltransferase 8 (putative))

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55841/nat8