NAT8B

Summary

NAT8B (N-acetyltransferase 8B (putative, gene/pseudogene), HGNC:30235) is a protein-coding gene on chromosome 2p13.1, encoding N-acetyltransferase 8B (Q9UHF3). 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.

This gene is highly similar to the N-acetyltransferase 8 (NAT8) gene which encodes a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and represents a human-specific transcribed pseudogene of NAT8. This gene contains two common polymorphic nonsense mutations that disrupt the active site of the protein. In the extremely rare event when both nonsense mutations are absent, the predicted protein would contain a complete acetyltransferase domain and would be identical in length to NAT8.

Source: NCBI Gene 51471 — RefSeq curated summary.

At a glance

• Gene type: non-coding (unitary_pseudogene) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30235
Approved symbol	NAT8B
Name	N-acetyltransferase 8B (putative, gene/pseudogene)
Location	2p13.1
Locus type	gene with protein product
Status	Approved
Aliases	Hcml2, NAT8BP, CML2
Ensembl gene	ENSG00000204872
Ensembl biotype	unitary_pseudogene
OMIM	608190
Entrez	51471

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 unitary_pseudogene

ENST00000377712

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000377712 — 1 exons

Exon	Start	End
ENSE00003755262	73700622	73701305

Expression profiles

Bgee: expression breadth ubiquitous, 136 present calls, max score 92.99.

Top tissues by expression

266 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.99	gold quality
jejunal mucosa	UBERON:0000399	89.35	gold quality
duodenum	UBERON:0002114	87.35	gold quality
nephron tubule	UBERON:0001231	86.41	gold quality
monocyte	CL:0000576	83.52	gold quality
adult mammalian kidney	UBERON:0000082	82.87	gold quality
mononuclear cell	CL:0000842	82.84	gold quality
kidney epithelium	UBERON:0004819	82.83	gold quality
leukocyte	CL:0000738	82.18	gold quality
renal glomerulus	UBERON:0000074	80.23	gold quality
metanephric glomerulus	UBERON:0004736	79.05	gold quality
mucosa of transverse colon	UBERON:0004991	78.72	gold quality
kidney	UBERON:0002113	77.22	gold quality
adult organism	UBERON:0007023	77.14	gold quality
ileal mucosa	UBERON:0000331	76.47	gold quality
cortex of kidney	UBERON:0001225	75.94	gold quality
granulocyte	CL:0000094	71.58	gold quality
small intestine	UBERON:0002108	69.15	gold quality
metanephros	UBERON:0000081	69.03	gold quality
small intestine Peyer’s patch	UBERON:0003454	67.70	gold quality
jejunum	UBERON:0002115	67.46	gold quality
metanephros cortex	UBERON:0010533	65.38	gold quality
rectum	UBERON:0001052	64.74	gold quality
blood	UBERON:0000178	63.83	gold quality
gall bladder	UBERON:0002110	63.81	gold quality
transverse colon	UBERON:0001157	61.40	gold quality
tendon of biceps brachii	UBERON:0008188	60.57	gold quality
renal medulla	UBERON:0000362	59.30	silver quality
right lobe of liver	UBERON:0001114	57.58	gold quality
spleen	UBERON:0002106	57.12	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.17

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• Biochemical inhibition of the acetyltransferases ATase1 and ATase2 reduces beta-secretase (BACE1) levels and Abeta generation. (PMID:22267734)
• ATase1 and ATase2 are endoplasmic reticulum-based acetyltransferases that form homo- and heterodimers and associate with members of the oligosaccharyltransferase complex (PMID:25301944)

Cross-species orthologs

0 orthologs

Protein

Non-coding RNA — no protein product; not a drug target.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No drug or pharmacology data — not an established drug target.