NAT8 (N-acetyltransferase 8 (putative))

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9027
Gene name N-acetyltransferase 8 (putative)
Gene symbol NAT8
Synonyms (NCBI Gene)
ATase2CCNATCML1GLAHcml1TSC501TSC510
Chromosome 2
Chromosome location 2p13.1
Summary 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.
11
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0004468 Function L-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor IEA
GO:0004468 Function L-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor TAS
GO:0005515 Function Protein binding IPI 19011241, 24556617, 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 20392701
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606716 18069 ENSG00000144035
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (3)
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
CHRONIC KIDNEY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MACROVASCULAR COMPLICATIONS OF DIABETES — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (191)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 19011241 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Angiokeratoma Angiokeratoma CTD_human_DG 19925601
★★★★★
★☆☆☆☆
Found in Text Mining only
Angiokeratoma Angiokeratoma BEFREE 28798024
★★★★★
★☆☆☆☆
Found in Text Mining only
Angiokeratoma Angiokeratoma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arterial Occlusive Diseases Arterial occlusive disease Pubtator 38295534 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 27916618
★★★★★
★☆☆☆☆
Found in Text Mining only