NAT8 (N-acetyltransferase 8 (putative))

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9027
Gene name Gene Name - the full gene name approved by the HGNC.
N-acetyltransferase 8 (putative)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NAT8
Synonyms (NCBI Gene) Gene synonyms aliases
ATase2, CCNAT, CML1, GLA, Hcml1, TSC501, TSC510
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affect
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT2050440 hsa-miR-1273e CLIP-seq
MIRT2050441 hsa-miR-2110 CLIP-seq
MIRT2050442 hsa-miR-3150a-3p CLIP-seq
MIRT2050443 hsa-miR-4450 CLIP-seq
MIRT2050444 hsa-miR-488 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0004468 Function Lysine N-acetyltransferase activity, acting on acetyl phosphate as donor IDA 19011241, 24556617
GO:0005515 Function Protein binding IPI 19011241, 24556617, 32296183
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005789 Component Endoplasmic reticulum membrane IDA 20392701
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606716 18069 ENSG00000144035
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UHE5
Protein name N-acetyltransferase 8 (EC 2.3.1.-) (Acetyltransferase 2) (ATase2) (Camello-like protein 1) (Cysteinyl-conjugate N-acetyltransferase) (CCNAT) (EC 2.3.1.80) (Protein-lysine N6-acetyltransferase 8)
Protein function Endoplasmic reticulum (ER)-membrane-bound lysine N-acetyltransferase catalyzing the N6-acetylation of lysine residues in the lumen of the ER in various proteins, including PROM1 and BACE1, using acetyl-CoA as acetyl donor (PubMed:19011241, PubMe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00583 Acetyltransf_1 74 → 193 Acetyltransferase (GNAT) family Family
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed in liver and kidney. Also detected in brain (at protein level). {ECO:0000269|PubMed:22267734, ECO:0000269|PubMed:9852678}.
Sequence 
MAPCHIRKYQESDRQWVVGLLSRGMAEHAPATFRQLLKLPRTLILLLGGPLALLLVSGSW
LLALVFSISLFPALWFLAKKPWTEYVDMTLCTDMSDITKSYLSERGSCFWVAESEEKVVG
MVGALPVDDPTLREKRLQLFHLFVDSEHRRQGIAKALVRTVLQFARDQGYSEVILDTGTI
QLSAMALYQSMGFKKTGQSFFCVWARLVALHTVHFIYHLPSSKVGSL
Sequence length 227
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Glutathione metabolism
Metabolic pathways 		  Amyloid fiber formation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Kidney disease Chronic Kidney Diseases rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 22479191, 20383146
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Kidney Disease Kidney Disease GWAS
Insomnia Insomnia GWAS
Show/Hide Text Mining Associations (13)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 19011241
Carcinoma Renal Cell Associate 37328520
Chronic Kidney Disease Mineral and Bone Disorder Associate 33380473
Crohn Disease Associate 37496049
Diabetes Mellitus Type 2 Associate 33430853
Diabetic Neuropathies Associate 33430853
Heart Failure Associate 23934736
Kidney Neoplasms Associate 33626918
Neoplasms Associate 33626918
Precursor Cell Lymphoblastic Leukemia Lymphoma Associate 24556617