NAT9: N-Acetyltransferase 9 (Putative)

A member of the N-acetyltransferase family with potential roles in cellular metabolism and disease.

Gene Information Card

Symbol NAT9
Full Name N-acetyltransferase 9 (putative)
Gene Type protein-coding
Chromosomal Location 17q25.1
NCBI Gene ID 26151 ncbi.nlm.nih.gov/gene/26151
Ensembl ID ENSG00000109062
UniProt ID Q9BTE0
OMIM ID 608703
HGNC ID 18033
Aliases NAT9, N-acetyltransferase 9, NAL1, N-acetyltransferase-like 1

Description

NAT9 (N-acetyltransferase 9) is a protein-coding gene located on chromosome 17q25.1. It encodes a putative N-acetyltransferase enzyme belonging to the GCN5-related N-acetyltransferase (GNAT) family. The protein is predicted to catalyze the transfer of acetyl groups from acetyl-CoA to substrate amines, though its specific biological substrates and functions remain under investigation. NAT9 is ubiquitously expressed and has been implicated in cellular processes including metabolism and protein modification.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various) Altered NAT9 expression may affect acetylation pathways involved in cell proliferation and survival. COSMIC; limited direct evidence
No specific Mendelian disease association NAT9 is not currently linked to a monogenic disorder in OMIM. OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Thyroid 10.2 Medium
Adrenal gland 9.8 Medium
Liver 8.5 Medium
Brain 6.3 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 15.0 Moderate expression
HeLa 12.0 Moderate expression
K562 8.0 Low expression
A549 7.5 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.307G>A (p.Gly103Arg) Missense <0.01% Unknown; predicted benign by in silico tools
c.421C>T (p.Arg141Trp) Missense <0.01% Unknown; predicted possibly damaging
c.544_546del (p.Lys182del) In-frame deletion <0.01% Unknown
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in NAT9.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Pathways

• No specific curated pathways for NAT9 in major databases.

Protein Summary

NAT9 encodes a 207-amino acid protein with a predicted molecular weight of ~23 kDa. It contains a conserved N-acetyltransferase domain characteristic of the GNAT superfamily. The protein is localized to the cytoplasm and nucleus, and is ubiquitously expressed. Its exact catalytic function and substrate specificity remain to be fully elucidated, but it is hypothesized to participate in acetylation-dependent cellular regulation.

Related Products

Product name Cat.No. Species Gene ID
NAT9 Knockout HEK293 Cell Line EDJ-KQ8434 Human 26151 Details Get a Quote
NAT9 Knockout A-549 Cell Line EDJ-KQ34548 Human 26151 Details Get a Quote
NAT9 Knockout HCT 116 Cell Line EDJ-KQ34549 Human 26151 Details Get a Quote
NAT9 Knockout HeLa Cell Line EDJ-KQ34550 Human 26151 Details Get a Quote
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