NAT14

Summary

NAT14 (N-acetyltransferase 14 (putative), HGNC:28918) is a protein-coding gene on chromosome 19q13.42, encoding Probable N-acetyltransferase 14 (Q8WUY8). Probable acetyltransferase.

Predicted to enable N-acetyltransferase activity. Predicted to be involved in DNA-templated transcription initiation and positive regulation of DNA-templated transcription. Predicted to be located in nucleus.

Source: NCBI Gene 57106 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 46 total
• MANE Select transcript: NM_020378

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28918
Approved symbol	NAT14
Name	N-acetyltransferase 14 (putative)
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	KLP1
Ensembl gene	ENSG00000090971
Ensembl biotype	protein_coding
Entrez	57106

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000205194, ENST00000587400, ENST00000588985, ENST00000591590, ENST00000592719, ENST00000898441, ENST00000935974, ENST00000962965

RefSeq mRNA: 1 — MANE Select: NM_020378 NM_020378

CCDS: CCDS12926

Canonical transcript exons

ENST00000205194 — 3 exons

Exon	Start	End
ENSE00000579331	55485661	55485780
ENSE00001175062	55486408	55487566
ENSE00002959617	55485188	55485258

Expression profiles

Bgee: expression breadth ubiquitous, 228 present calls, max score 95.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.0704 / max 127.0423, expressed in 1633 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177623	13.2406	1589
177622	8.9479	1579
177621	0.8820	567

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	95.71	gold quality
cerebellar hemisphere	UBERON:0002245	95.37	gold quality
cerebellar cortex	UBERON:0002129	95.28	gold quality
right uterine tube	UBERON:0001302	95.22	gold quality
putamen	UBERON:0001874	95.14	gold quality
right frontal lobe	UBERON:0002810	95.11	gold quality
adenohypophysis	UBERON:0002196	94.98	gold quality
caudate nucleus	UBERON:0001873	94.84	gold quality
anterior cingulate cortex	UBERON:0009835	94.78	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.68	gold quality
cerebellum	UBERON:0002037	94.59	gold quality
amygdala	UBERON:0001876	94.49	gold quality
hypothalamus	UBERON:0001898	94.48	gold quality
nucleus accumbens	UBERON:0001882	94.22	gold quality
thymus	UBERON:0002370	93.95	gold quality
pituitary gland	UBERON:0000007	93.88	gold quality
prefrontal cortex	UBERON:0000451	93.73	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.44	gold quality
cortical plate	UBERON:0005343	93.20	gold quality
ganglionic eminence	UBERON:0004023	93.03	gold quality
embryo	UBERON:0000922	93.02	gold quality
neocortex	UBERON:0001950	92.88	gold quality
frontal cortex	UBERON:0001870	92.68	gold quality
forebrain	UBERON:0001890	92.48	gold quality
brain	UBERON:0000955	92.44	gold quality
ventricular zone	UBERON:0003053	92.11	gold quality
cerebral cortex	UBERON:0000956	91.93	gold quality
bronchial epithelial cell	CL:0002328	91.82	gold quality
stromal cell of endometrium	CL:0002255	91.59	gold quality
bronchus	UBERON:0002185	91.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting NAT14, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-3166	98.24	66.63	1223
HSA-MIR-6826-3P	98.19	66.32	1153
HSA-MIR-4264	96.35	64.76	1480
HSA-MIR-6747-5P	96.17	64.99	743

Literature-anchored findings (GeneRIF, showing 1)

• Results indicated that NAT8L, but not NAT14, catalysed the synthesis of NAA from L-aspartate and acetyl-CoA. (PMID:19807691)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	nat14	ENSDARG00000115349
mus_musculus	Nat14	ENSMUSG00000035285

Paralogs (2): NAT8 (ENSG00000144035), NAT8L (ENSG00000185818)

Protein

Protein identifiers

Probable N-acetyltransferase 14 — Q8WUY8 (reviewed: Q8WUY8)

Alternative names: K562 cell-derived leucine-zipper-like protein 1

All UniProt accessions (4): Q8WUY8, M0QZH3, M0R1E3, M0R284

UniProt curated annotations — full annotation on UniProt →

Function. Probable acetyltransferase. May act as a transcription factor that regulates the expression of coproporphyrinogen oxidase by binding to a promoter regulatory element.

Subcellular location. Membrane.

Tissue specificity. Expressed in K-562 and HeLa cell lines and in brain.

Similarity. Belongs to the camello family.

RefSeq proteins (1): NP_065111* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000182	GNAT_dom	Domain
IPR016181	Acyl_CoA_acyltransferase	Homologous_superfamily
IPR050769	NAT_camello-type	Family

Pfam: PF00583

UniProt features (5 total): sequence conflict 2, chain 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WUY8-F1	83.55	0.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 59 (showing top): SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, TAL1BETAE47_01, AR_01, RFX1_01, GARY_CD5_TARGETS_UP, GOMF_ACETYLTRANSFERASE_ACTIVITY, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_N_ACYLTRANSFERASE_ACTIVITY, MZF1_01, GOMF_N_ACETYLTRANSFERASE_ACTIVITY, MIKKELSEN_ES_ICP_WITH_H3K4ME3, ARID5B_TARGET_GENES, CHAF1B_TARGET_GENES, ZFP3_TARGET_GENES

GO Biological Process (2): DNA-templated transcription initiation (GO:0006352), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (6): DNA binding (GO:0003677), N-acetyltransferase activity (GO:0008080), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747)

GO Cellular Component (2): nucleus (GO:0005634), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
RNA biosynthetic process	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
nucleic acid binding	1
acetyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
acyltransferase activity	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

538 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NAT14	KIF9	Q9HAQ2	657
NAT14	NAT1	P18440	572
NAT14	ZNF579	Q8NAF0	562
NAT14	ASPNAT	Q8N9F0	533
NAT14	NAT9	Q9BTE0	532
NAT14	HYDIN	Q4G0P3	507
NAT14	FIZ1	Q96SL8	499
NAT14	NAT10	Q9H0A0	496
NAT14	ISOC2	Q96AB3	495
NAT14	PPP6R1	Q9UPN7	457
NAT14	TMEM131L	A2VDJ0	421
NAT14	AIDA	Q96BJ3	412
NAT14	SPAG17	Q6Q759	400
NAT14	NAA60	Q9H7X0	397
NAT14	NAT8	Q9UHE5	383

IntAct

108 interactions, top by confidence:

A	B	Type	Score
IFT70B	IFT56	psi-mi:“MI:0914”(association)	0.790
NAT14	PEX19	psi-mi:“MI:0915”(physical association)	0.740
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
SLC7A1	TMEM223	psi-mi:“MI:0914”(association)	0.530
SLC39A5	TMEM223	psi-mi:“MI:0914”(association)	0.530
C3AR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
KCNA10	GAPDHS	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
rep	AGPS	psi-mi:“MI:0914”(association)	0.530
POMK	TMEM120B	psi-mi:“MI:0914”(association)	0.530
FAM241A	NRP1	psi-mi:“MI:0914”(association)	0.530
TSPAN5	SC5D	psi-mi:“MI:0914”(association)	0.530
FUCA2	HSPA5	psi-mi:“MI:0914”(association)	0.530
PEX19	MYO1D	psi-mi:“MI:0914”(association)	0.530
CMKLR1	SC5D	psi-mi:“MI:0914”(association)	0.530
P2RY10	ATM	psi-mi:“MI:0914”(association)	0.530
SLC6A8	ILVBL	psi-mi:“MI:0914”(association)	0.530
NAT14	ADRB2	psi-mi:“MI:0915”(physical association)	0.370
NAT14	CCR4	psi-mi:“MI:0915”(physical association)	0.370
NAT14	F2RL1	psi-mi:“MI:0915”(physical association)	0.370
NAT14	HTR2B	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (98): NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS), NAT14 (Affinity Capture-MS)

ESM2 similar proteins: A1A4L8, A2BDX3, A2WY00, A2X4M8, A2XFU5, A2YQ58, A2YS71, A2YS76, A8MPS7, B3GSH5, C9JR72, D3KU66, D3KU67, O19179, O43323, P18080, P50427, P55203, Q02846, Q08DH8, Q08DM2, Q0D3F2, Q0J7E4, Q10MI9, Q14BV6, Q17QU7, Q2QMI0, Q2QSL4, Q3MHZ1, Q53P49, Q5NAI7, Q5RE82, Q61488, Q67UR2, Q67WR5, Q6K7B8, Q6K9X3, Q6Z0Q9, Q6Z1I5, Q75GK4

Diamond homologs: P59599, Q0P4A4, Q3MHZ1, Q8BVG8, Q8WUY8, Q9N0D0, A4IGD2, A4II32, D3ZVU9, Q28DI5, Q3UGX3, Q8N9F0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 123 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
SLC-mediated transport of neurotransmitters	5	23.4×	1e-03
Class A/1 (Rhodopsin-like receptors)	8	6.8×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
amino acid transport	6	17.2×	6e-04
sodium ion transmembrane transport	9	16.8×	3e-06
response to endoplasmic reticulum stress	6	9.2×	8e-03
response to xenobiotic stimulus	9	5.7×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

46 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

415 predictions. Top by Δscore:

Variant	Effect	Δscore
19:55485656:A:AG	acceptor_gain	1.0000
19:55485658:CA:C	acceptor_loss	1.0000
19:55485659:A:T	acceptor_loss	1.0000
19:55485778:AAGGT:A	donor_loss	1.0000
19:55485779:AGG:A	donor_loss	1.0000
19:55485780:GGT:G	donor_loss	1.0000
19:55485782:T:A	donor_loss	1.0000
19:55485254:TGCAG:T	donor_loss	0.9900
19:55485256:C:T	donor_gain	0.9900
19:55485257:AG:A	donor_loss	0.9900
19:55485260:T:G	donor_loss	0.9900
19:55485657:C:G	acceptor_gain	0.9900
19:55485659:A:AG	acceptor_gain	0.9900
19:55485659:AG:A	acceptor_gain	0.9900
19:55485659:AGGT:A	acceptor_gain	0.9900
19:55485660:G:GA	acceptor_gain	0.9900
19:55485660:GG:G	acceptor_gain	0.9900
19:55485660:GGT:G	acceptor_gain	0.9900
19:55485660:GGTG:G	acceptor_gain	0.9900
19:55485660:GGTGC:G	acceptor_gain	0.9900
19:55485777:GAAG:G	donor_gain	0.9900
19:55485781:G:GG	donor_gain	0.9900
19:55485238:G:GT	donor_gain	0.9800
19:55485247:C:T	donor_gain	0.9800
19:55485656:ACCAG:A	acceptor_gain	0.9800
19:55485745:G:T	donor_gain	0.9800
19:55486405:CA:C	acceptor_loss	0.9800
19:55485649:T:TA	acceptor_gain	0.9700
19:55486406:A:AG	acceptor_gain	0.9700
19:55486407:G:GG	acceptor_gain	0.9700

AlphaMissense

1269 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:55486489:A:C	S52R	0.998
19:55486491:C:A	S52R	0.998
19:55486491:C:G	S52R	0.998
19:55486492:A:C	S53R	0.998
19:55486494:C:A	S53R	0.998
19:55486494:C:G	S53R	0.998
19:55486939:T:C	F202L	0.996
19:55486941:C:A	F202L	0.996
19:55486941:C:G	F202L	0.996
19:55486519:T:C	F62L	0.995
19:55486521:C:A	F62L	0.995
19:55486521:C:G	F62L	0.995
19:55486940:T:C	F202S	0.995
19:55486532:T:A	L66H	0.994
19:55486541:C:G	P69R	0.994
19:55486660:G:T	G109W	0.994
19:55486661:G:A	G109E	0.994
19:55486724:T:A	V130D	0.993
19:55486490:G:A	S52N	0.992
19:55486504:T:C	F57L	0.992
19:55486506:T:A	F57L	0.992
19:55486506:T:G	F57L	0.992
19:55486541:C:A	P69Q	0.992
19:55486634:C:A	A100D	0.992
19:55486439:C:A	A35D	0.991
19:55486442:T:A	L36H	0.991
19:55486472:T:A	L46H	0.991
19:55486947:A:C	K204N	0.991
19:55486947:A:T	K204N	0.991
19:55486660:G:A	G109R	0.990

dbSNP variants (sampled 300 via entrez): RS1000057773 (19:55483437 C>T), RS1000216708 (19:55485122 G>A), RS1000306157 (19:55484954 C>G,T), RS1000774188 (19:55488033 C>A), RS1001275739 (19:55483753 G>A), RS1003332442 (19:55485071 C>G), RS1003384742 (19:55484885 C>G), RS1004785894 (19:55485381 C>T), RS1004894255 (19:55484736 GC>G,GCC,GCCC), RS1005245032 (19:55485199 C>A,T), RS1005447728 (19:55487613 C>T), RS1006865725 (19:55486570 C>G), RS1006906004 (19:55483419 C>G,T), RS1007341360 (19:55486640 G>A,T), RS1008252125 (19:55486545 G>A,C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST90020025_1650	Waist-to-hip ratio adjusted for BMI	1.000000e-12
GCST90020027_321	Waist-hip index	1.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects expression	4
sodium arsenite	increases expression, decreases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Copper	affects binding, increases expression, decreases expression	2
Smoke	increases abundance, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
methylmercuric chloride	decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
monomethylarsonous acid	decreases expression	1
K 7174	decreases expression	1
ICG 001	decreases expression	1
jinfukang	increases expression	1
NSC 689534	decreases expression, affects binding	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression	1
Disulfiram	affects binding, increases expression	1
Diuron	decreases expression	1
Estradiol	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Quercetin	increases expression	1
Rotenone	decreases expression	1
Thiram	decreases expression	1
Cyclosporine	decreases expression	1
Cadmium Chloride	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SZ93	HAP1 NAT14 (-) 1	Cancer cell line	Male
CVCL_SZ94	HAP1 NAT14 (-) 2	Cancer cell line	Male
CVCL_SZ95	HAP1 NAT14 (-) 3	Cancer cell line	Male
CVCL_SZ96	HAP1 NAT14 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.