NAA10
gene geneOn this page
Also known as DXS707TE2
Summary
NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit, HGNC:18704) is a protein-coding gene on chromosome Xq28, encoding N-alpha-acetyltransferase 10 (P41227). Catalytic subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase activity. It is a common-essential gene (DepMap: required in 92.8% of cancer cell lines).
N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 8260 — RefSeq curated summary.
At a glance
- Gene–disease (curated): NAA10-related syndrome (Definitive, ClinGen) — +3 more curated relationships
- GWAS associations: 1
- Clinical variants (ClinVar): 231 total — 14 pathogenic, 14 likely-pathogenic
- Phenotypes (HPO): 216
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 92.8% of screened cell lines (common-essential)
- Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_003491
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18704 |
| Approved symbol | NAA10 |
| Name | N-alpha-acetyltransferase 10, NatA catalytic subunit |
| Location | Xq28 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DXS707, TE2 |
| Ensembl gene | ENSG00000102030 |
| Ensembl biotype | protein_coding |
| OMIM | 300013 |
| Entrez | 8260 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 11 protein_coding, 9 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000370009, ENST00000370011, ENST00000370015, ENST00000393710, ENST00000393712, ENST00000432089, ENST00000460996, ENST00000464845, ENST00000466877, ENST00000467451, ENST00000477750, ENST00000477882, ENST00000478177, ENST00000484950, ENST00000488481, ENST00000700299, ENST00000854040, ENST00000930123, ENST00000930124, ENST00000930125, ENST00000930126
RefSeq mRNA: 3 — MANE Select: NM_003491
NM_001256119, NM_001256120, NM_003491
CCDS: CCDS14737, CCDS59179
Canonical transcript exons
ENST00000464845 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001870438 | 153929225 | 153930223 |
| ENSE00001918122 | 153934884 | 153935037 |
| ENSE00003486656 | 153930763 | 153930847 |
| ENSE00003505156 | 153932316 | 153932431 |
| ENSE00003574243 | 153932539 | 153932584 |
| ENSE00003586877 | 153934377 | 153934475 |
| ENSE00003623423 | 153932071 | 153932115 |
| ENSE00003659133 | 153933943 | 153934001 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 97.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 78.0360 / max 369.0907, expressed in 1822 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200927 | 78.0360 | 1822 |
| 200928 | 4.4210 | 1521 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 97.73 | gold quality |
| apex of heart | UBERON:0002098 | 97.63 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.40 | gold quality |
| lower esophagus | UBERON:0013473 | 97.39 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.37 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.33 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.30 | gold quality |
| left coronary artery | UBERON:0001626 | 97.27 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.27 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.27 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.25 | gold quality |
| body of uterus | UBERON:0009853 | 97.24 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.19 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.11 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.03 | gold quality |
| ascending aorta | UBERON:0001496 | 96.94 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.93 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.88 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.86 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.85 | gold quality |
| right coronary artery | UBERON:0001625 | 96.84 | gold quality |
| coronary artery | UBERON:0001621 | 96.83 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.81 | gold quality |
| muscle of leg | UBERON:0001383 | 96.79 | gold quality |
| granulocyte | CL:0000094 | 96.78 | gold quality |
| left uterine tube | UBERON:0001303 | 96.78 | gold quality |
| aorta | UBERON:0000947 | 96.74 | gold quality |
| popliteal artery | UBERON:0002250 | 96.73 | gold quality |
| tibial artery | UBERON:0007610 | 96.73 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.69 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.64 |
| E-MTAB-6379 | no | 378.22 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HIF1A
miRNA regulators (miRDB)
4 targeting NAA10, 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-4284 | 99.36 | 65.25 | 1293 |
| HSA-MIR-6865-3P | 97.54 | 64.67 | 684 |
| HSA-MIR-4286 | 97.20 | 64.37 | 1587 |
| HSA-MIR-6729-3P | 96.91 | 66.79 | 703 |
Functional genomics
ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
DepMap (CRISPR cell-line fitness): dependent in 92.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 40)
- ARD1-mediated acetylation regulates and destabilizes HIF-1 alpha by directly binding to it. (PMID:12464182)
- Human Naa15 (NATH) and Naa10 (ARD1) form a stable NatA complex which associates with ribosomes and performs co-translational N-terminal acetylation; Naa15 (NATH) and Naa10 (ARD1) are cleaved during apoptosis resulting in decreased acetyltransferase activity (PMID:15496142)
- description of the human homologue of Nat1p, NATH (NAT human), as the binding partner of the hARD1 (human ARD1) protein (PMID:15496142)
- hARD1 complexes with NATH in a ribosomal associated protein-N-acetyltransferase complex. (PMID:15496142)
- Amino-terminal acetyltransferase ARD1 (hARD1) interacts with a novel motif, 658-HGVVEVD-664, in the cytoplasmic domain of beta-amyloid precursor protein. (PMID:15749829)
- ARD1 is involved in cell proliferation and in regulating a series of cellular metabolic pathways that are regulated during hypoxia response. (PMID:15755738)
- Data demonstrate that ARD1 has limited, if any, impact on the HIF-1alpha signaling pathway. (PMID:15994306)
- levels of endogenous NATH and hARD1 proteins in thyroid papillary carcinoma patients; results suggest that NATH positively affects the level of hARD1 protein both in vivo and in cell cultures (PMID:16279846)
- ARD1 specifically binds HIF-1 alpha, suggesting a putative, still unclear, connection between these proteins. (PMID:16288748)
- A human ARD1 variant ortholog (235) has weak effects on hypoxia inducible factor (HIF)-1 alpha and VEGF mRNA stability compared to mouse ARD1 ortholog 225. (PMID:16376303)
- Essential role in cell survival through protein N-alpha-acetylation. (PMID:16518407)
- Structural characterization of native hARD1 using size exclusion chromatography, circular dichroism, & fluorescence spectroscopy shows the protein consists of compact globular region comprising 2 thirds of the protein & a flexible unstructured C terminus. (PMID:16823041)
- These results indicate that ARD1(235) and ARD1(225) isoforms may have different activities and function in different subcellular compartments of mammalian cells. (PMID:17161380)
- HIF-1alpha was found to inactivate the Wnt signaling by binding to hARD1 or beta-catenin, which may contribute to the hypoxia-induced growth arrest of tumor cells. (PMID:18593917)
- ARD1A is implicated in cellular proliferation and carcinogenesis. (PMID:18794801)
- This review focuses on the enzymatic and biological activities of human ARD1, the reduction of which negatively affects cell growth and may be a potential cancer drug target. (PMID:18991565)
- accumulation of hARD1 protein may be related to carcinogenesis of various types of cancer. (PMID:19287988)
- ARD1 is indeed a bona fide substrate of IKKbeta. (PMID:19716809)
- hARD1 is a bona fide regulator of MLCK, and hARD1 plays a crucial role in the balance between tumor cell migration and stasis (PMID:19826488)
- Results suggest that hARD1 might play an important role in breast cancer carcinogenesis. (PMID:19909012)
- ARD1 functions as an inhibitor of the mTOR pathway and that dysregulation of the ARD1-TSC2-mTOR axis may contribute to cancer development (PMID:20145209)
- Data indicate that the physical interaction between HYPK and NatA Naa10/15 seems to be of functional importance both for huntingtin aggregation and for N-terminal acetylation. (PMID:20154145)
- Results show that hARD1 autoacetylation is critical for its activation and its ability to stimulate cancer cell proliferation and tumorigenesis. (PMID:20501853)
- interaction between hNaa10p and DNMT1 was required for E-cadherin silencing through promoter CpG methylation, and E-cadherin repression contributed to the oncogenic effects of hNaa10p. (PMID:20592467)
- These results indicate that ARD1A is a novel tumor-associated antigen and a potential prognostic factor for colon cancer. (PMID:20639454)
- suggest that Naa10p functions as a tumor metastasis suppressor by disrupting the migratory complex, PIX-GIT- Paxillin, in cancer cells (PMID:21295525)
- N(alpha)-acetyltransferase 10 may function as a post-translational actin N(alpha)-acetyltransferase. (PMID:21383206)
- A reduction in acetylation by hNaa10p causes lethal X-linked disorder of infancy. (PMID:21700266)
- Arrest-defective protein 1 homolog A (ARD1) in combination with SNCG/Hiwi/PRL-3 may lead to a poor outcome in patients with or without lymph node metastatic colon cancer. (PMID:22261620)
- ARD1 functions as a unique AR regulator in prostate cancer cells. (PMID:22315407)
- study revealed a novel mechanism controlling MCL1 expression, in which Naa10p and RelA/p65 synergistically interact with MCL1 promoter region and promote MCL1 transcription (PMID:22496479)
- These data indicate that the interaction between ARD1 and RIP1 plays an important role in the DNA damage-induced NF-kappaB activation, and that the acetyltransferase activity of ARD1 and its localization in to the nucleus are involved in such stress response. (PMID:22580278)
- Protein N-terminal acetyltransferases (NATs), including Naa10, act as N-terminal propionyltransferases. (PMID:23043182)
- The expression level of NAA10 is inversely correlated with that of MMP-9 in breast cancer samples. (PMID:23550278)
- Development of the first specific NAT-inhibitors, including inhibitors targeting Naa10. (PMID:23557624)
- Naa10p suppresses 28S proteasome activity through interaction with PA28beta. (PMID:23624078)
- Study describes a Saccharomyces cerevisiae model developed by introducing the human wild-type (wt) or mutant NatA complex into yeast lacking NatA (NatA-Delta). The wt human NatA complex phenotypically complemented the NatA-Delta strain, whereas only a partial rescue was observed for the Ogden mutant NatA complex suggesting that hNaa10 S37P is only partially functional in vivo. (PMID:24408909)
- The study concludes that the NAA10 mutation is the cause of Lenz microphthalmia syndrome in a family, likely through the dysregulation of the retinoic acid signalling pathway. (PMID:24431331)
- Naa10p inhibits the metastasis of breast cancer cells by targeting STAT5a. (PMID:24925029)
- De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females (PMID:25099252)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | naa10 | ENSDARG00000071060 |
| mus_musculus | Naa10 | ENSMUSG00000031388 |
| rattus_norvegicus | Naa10 | ENSRNOG00000060063 |
| drosophila_melanogaster | vnc | FBGN0263251 |
| caenorhabditis_elegans | WBGENE00000923 |
Paralogs (4): NAA50 (ENSG00000121579), NAA30 (ENSG00000139977), NAA11 (ENSG00000156269), NAA20 (ENSG00000173418)
Protein
Protein identifiers
N-alpha-acetyltransferase 10 — P41227 (reviewed: P41227)
Alternative names: N-terminal acetyltransferase complex ARD1 subunit homolog A, NatA catalytic subunit Naa10
All UniProt accessions (5): P41227, A8MWP7, C9JN83, C9JW55, F8W808
UniProt curated annotations — full annotation on UniProt →
Function. Catalytic subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase activity. Acetylates amino termini that are devoid of initiator methionine. The alpha (N-terminal) acetyltransferase activity may be important for vascular, hematopoietic and neuronal growth and development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting its degradation. Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration. Acetylates, and stabilizes TSC2, thereby repressing mTOR activity and suppressing cancer development. Acetylates HSPA1A and HSPA1B at ‘Lys-77’ which enhances its chaperone activity and leads to preferential binding to co-chaperone HOPX. Acetylates HIST1H4A. Acts as a negative regulator of sister chromatid cohesion during mitosis.
Subunit / interactions. Component of the N-terminal acetyltransferase A complex (also called the NatA complex) composed of NAA10 and NAA15. Within the complex interacts with NAA15. Component of the N-terminal acetyltransferase A (NatA)/HYPK complex at least composed of NAA10, NAA15 and HYPK, which has N-terminal acetyltransferase activity. In complex with NAA15, interacts with HYPK. Component of the N-terminal acetyltransferase E (NatE) complex at least composed of NAA10, NAA15 and NAA50. Within the complex interacts with NAA15; the interaction is required for binding to NAAT50. Interacts with NAAT50. The interaction of the NatA complex with NAA50 reduces the acetylation activity of the NatA complex. Component of the N-terminal acetyltransferase E (NatE)/HYPK complex at least composed of NAA10, NAA15, NAA50 and HYPK. In complex with NAA15, interacts with HYPK; the interaction with HYPK reduces the capacity of the NatA complex to interact with NAA50. Interacts with HIF1A (via its ODD domain); the interaction increases HIF1A protein stability during normoxia, an down-regulates it when induced by hypoxia. Interacts with the ribosome. Binds to MYLK. Interacts with NAA16. Interacts (via its C-terminal domain) with TSC2, leading to its acetylation. Interacts with IKBKB. Interacts with HSPA1A and HSPA1B leading to its acetylation.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Ubiquitous.
Post-translational modifications. Cleaved by caspases during apoptosis. Phosphorylation by IKBKB/IKKB at Ser-209 promotes its proteasome-mediated degradation. Autoacetylated at Lys-136 which stimulates its catalytic activity.
Disease relevance. N-terminal acetyltransferase deficiency (NATD) [MIM:300855] An enzymatic deficiency resulting in postnatal growth failure with severe delays and dysmorphic features. It is clinically characterized by wrinkled forehead, prominent eyes, widely opened anterior and posterior fontanels, downsloping palpebral fissures, thickened lids, large ears, flared nares, hypoplastic alae, short columella, protruding upper lip, and microretrognathia. There are also delayed closing of fontanels and broad great toes. Skin is characterized by redundancy or laxity with minimal subcutaneous fat, cutaneous capillary malformations, and very fine hair and eyebrows. Death results from cardiogenic shock following arrhythmia. The disease is caused by variants affecting the gene represented in this entry. Microphthalmia, syndromic, 1 (MCOPS1) [MIM:309800] A rare syndrome defined by the canonical features of unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary systems. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. Anomalies of the digits, teeth, and ears are hallmarks of MCOPS1. Intellectual disability ranges from mild to severe, with self-mutilating behaviors and seizures in severely affected MCOPS1 individuals. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the acetyltransferase family. ARD1 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P41227-1 | 1 | yes |
| P41227-2 | 2 |
RefSeq proteins (3): NP_001243048, NP_001243049, NP_003482* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000182 | GNAT_dom | Domain |
| IPR016181 | Acyl_CoA_acyltransferase | Homologous_superfamily |
| IPR045047 | Ard1-like | Family |
Pfam: PF00583
Enzyme classification (BRENDA):
- EC 2.3.1.255 — N-terminal amino-acid Nalpha-acetyltransferase NatA (BRENDA: 13 organisms, 96 substrates, 5 inhibitors, 24 Km, 23 kcat entries)
- EC 2.3.1.258 — N-terminal methionine Nalpha-acetyltransferase NatE (BRENDA: 8 organisms, 79 substrates, 9 inhibitors, 25 Km, 15 kcat entries)
- EC 2.3.1.48 — histone acetyltransferase (BRENDA: 41 organisms, 681 substrates, 1134 inhibitors, 140 Km, 96 kcat entries)
Substrate kinetics (BRENDA)
42 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ACETYL-COA | 0.0002–0.046 | 51 |
| HISTONE H3 | 0.007–2.09 | 23 |
| SASEAGVRWGRPVGRRRRP | 0.3–1.85 | 19 |
| HISTONE H4 | — | 11 |
| HISTONE H4 PEPTIDE | 0.0208–0.197 | 7 |
| MVNALE | 0.0153–0.1469 | 6 |
| HISTONE | 0.075–1.4 | 6 |
| ACETYL-COA | 0.196–0.6717 | 4 |
| HISTONE H3 TAIL PEPTIDE | 0.044–0.112 | 4 |
| PICCOLONUA4 PEPTIDE | 0.135–0.372 | 4 |
| 3-AZIDOPROPIONYL-COA | 0.0002–0.0086 | 3 |
| 4-PENTYNOYL-COA | 0.0009–0.0859 | 3 |
| SPERMIDINE | 0.18–0.27 | 3 |
| ACETYL-COA | 0.005–0.0069 | 2 |
| N-TERMINAL-L-METHIONYL-L-LEUCYL-GLYCYL-L-PROLINE | 0.0962–0.8315 | 2 |
Catalyzed reactions (Rhea), 6 shown:
- N-terminal glycyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetylglycyl-[protein] + CoA + H(+) (RHEA:50496)
- N-terminal L-alanyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-alanyl-[protein] + CoA + H(+) (RHEA:50500)
- N-terminal L-seryl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-seryl-[protein] + CoA + H(+) (RHEA:50504)
- N-terminal L-valyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-valyl-[protein] + CoA + H(+) (RHEA:50508)
- N-terminal L-cysteinyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-cysteinyl-[protein] + CoA + H(+) (RHEA:50512)
- N-terminal L-threonyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-threonyl-[protein] + CoA + H(+) (RHEA:50516)
UniProt features (37 total): strand 9, modified residue 8, helix 8, sequence variant 3, splice variant 2, mutagenesis site 2, region of interest 2, chain 1, domain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
12 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9FPZ | ELECTRON MICROSCOPY | 2.69 |
| 6C9M | X-RAY DIFFRACTION | 2.8 |
| 9F1B | ELECTRON MICROSCOPY | 3.01 |
| 6PPL | ELECTRON MICROSCOPY | 3.02 |
| 6C95 | X-RAY DIFFRACTION | 3.15 |
| 9F1D | ELECTRON MICROSCOPY | 3.26 |
| 9QQB | ELECTRON MICROSCOPY | 3.43 |
| 9F1C | ELECTRON MICROSCOPY | 3.78 |
| 9GJ6 | ELECTRON MICROSCOPY | 3.91 |
| 6PW9 | ELECTRON MICROSCOPY | 4.03 |
| 9GJ5 | ELECTRON MICROSCOPY | 4.61 |
| 9FQ0 | ELECTRON MICROSCOPY | 4.67 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P41227-F1 | 81.99 | 0.71 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (8): 209, 213, 216, 1, 136, 182, 186, 205
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 136 | loss of its ability to acetylate hspa1a and hspa1b. |
| 209 | abolishes phosphorylation by ikkb and reduces cell growth. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 571 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, PUJANA_CHEK2_PCC_NETWORK, GOBP_PROTEIN_MATURATION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_SISTER_CHROMATID_COHESION, GOBP_REGULATION_OF_CELL_CYCLE, MORF_BUB3, GOBP_NEGATIVE_REGULATION_OF_CHROMOSOME_ORGANIZATION, GOBP_PROTEIN_FOLDING, MAGRANGEAS_MULTIPLE_MYELOMA_IGG_VS_IGA_UP, WANG_TARGETS_OF_MLL_CBP_FUSION_DN
GO Biological Process (7): protein maturation (GO:0051604), positive regulation of protein refolding (GO:1904592), negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric (GO:2000719), protein acetylation (GO:0006473), N-terminal protein amino acid acetylation (GO:0006474), internal protein amino acid acetylation (GO:0006475), chromosome organization (GO:0051276)
GO Molecular Function (11): protein-N-terminal amino-acid acetyltransferase activity (GO:0004596), N-acetyltransferase activity (GO:0008080), protein-N-terminal-alanine acetyltransferase activity (GO:0008999), protein N-terminal-serine acetyltransferase activity (GO:1990189), protein-N-terminal-glutamate acetyltransferase activity (GO:1990190), protein binding (GO:0005515), acetyltransferase activity (GO:0016407), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747), ribosome binding (GO:0043022)
GO Cellular Component (6): nucleus (GO:0005634), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), NatA complex (GO:0031415)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein-N-terminal amino-acid acetyltransferase activity | 3 |
| cellular anatomical structure | 3 |
| protein acetylation | 2 |
| gene expression | 1 |
| protein metabolic process | 1 |
| protein refolding | 1 |
| regulation of protein refolding | 1 |
| positive regulation of protein folding | 1 |
| negative regulation of maintenance of mitotic sister chromatid cohesion | 1 |
| maintenance of mitotic sister chromatid cohesion, centromeric | 1 |
| regulation of maintenance of mitotic sister chromatid cohesion, centromeric | 1 |
| protein acylation | 1 |
| N-terminal protein amino acid modification | 1 |
| protein maturation | 1 |
| organelle organization | 1 |
| protein N-acetyltransferase activity | 1 |
| acetyltransferase activity | 1 |
| binding | 1 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| acyltransferase activity | 1 |
| ribonucleoprotein complex binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| N-terminal protein acetyltransferase complex | 1 |
Protein interactions and networks
STRING
2043 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NAA10 | NAA15 | Q9BXJ9 | 999 |
| NAA10 | NAA50 | Q9GZZ1 | 981 |
| NAA10 | HYPK | Q9NX55 | 977 |
| NAA10 | NAA60 | Q9H7X0 | 903 |
| NAA10 | NAA16 | Q6N069 | 899 |
| NAA10 | RENBP | P51606 | 865 |
| NAA10 | NAA25 | Q14CX7 | 823 |
| NAA10 | NAA40 | Q86UY6 | 810 |
| NAA10 | ESCO1 | Q5FWF5 | 794 |
| NAA10 | ESCO2 | Q56NI9 | 793 |
| NAA10 | NAA80 | Q93015 | 774 |
| NAA10 | ICE2 | Q659A1 | 763 |
| NAA10 | AVPR2 | P30518 | 748 |
| NAA10 | NAA35 | Q5VZE5 | 742 |
| NAA10 | L1CAM | P32004 | 741 |
IntAct
279 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NAA15 | NAA10 | psi-mi:“MI:0914”(association) | 0.840 |
| NAA10 | NAA15 | psi-mi:“MI:0915”(physical association) | 0.840 |
| NAA10 | NAA15 | psi-mi:“MI:0403”(colocalization) | 0.840 |
| CALCOCO2 | NAA10 | psi-mi:“MI:0915”(physical association) | 0.780 |
| KIFAP3 | NAA10 | psi-mi:“MI:0915”(physical association) | 0.780 |
| NAA10 | CALCOCO2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| NAA10 | KIFAP3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| PDE4DIP | NAA10 | psi-mi:“MI:0915”(physical association) | 0.740 |
| NAA10 | PDE4DIP | psi-mi:“MI:0915”(physical association) | 0.740 |
| ZBTB14 | NAA10 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NAA10 | ZBTB14 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NAA10 | CREBRF | psi-mi:“MI:0915”(physical association) | 0.670 |
| NAA10 | CDCA5 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NAA10 | SNX33 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NAA10 | HIF1A | psi-mi:“MI:0915”(physical association) | 0.670 |
| NAA10 | DDIT4L | psi-mi:“MI:0915”(physical association) | 0.600 |
| NAA10 | NOXA1 | psi-mi:“MI:0915”(physical association) | 0.600 |
| DDIT4L | NAA10 | psi-mi:“MI:0915”(physical association) | 0.600 |
BioGRID (257): NAA10 (Two-hybrid), NAA10 (Two-hybrid), PDE4DIP (Two-hybrid), CALCOCO2 (Two-hybrid), RBCK1 (Two-hybrid), EHMT2 (Two-hybrid), KIFAP3 (Two-hybrid), BCOR (Two-hybrid), CEP44 (Two-hybrid), FIP1L1 (Two-hybrid), RAB3IP (Two-hybrid), SSX2IP (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-5 (Two-hybrid), KRTAP10-3 (Two-hybrid)
ESM2 similar proteins: A0A2R8QFQ6, A4IFE4, A9X1D0, B0VX69, B5FW36, C1FXW2, D1LYT2, D3Z7P3, G3MWR8, G3V6U9, O13016, O46411, O88508, O94925, O95544, P13264, P18031, P18507, P20417, P21548, P22723, P35790, P35821, P41227, P47870, P58058, Q01134, Q0VAM2, Q14722, Q1LZ53, Q2KI14, Q3ULA2, Q3UX61, Q4V8K3, Q4W5Z4, Q5RC04, Q5SRY7, Q5ZML9, Q6ZPR4, Q7RTP6
Diamond homologs: O61219, O74457, P07347, P36416, P41227, P61599, P61600, Q03503, Q05885, Q06504, Q2KI14, Q2PFM2, Q3UX61, Q4JBG0, Q4V8K3, Q58925, Q58ED9, Q6P632, Q7ZXR3, Q8SSN5, Q976C3, Q980R9, Q9BSU3, Q9FKI4, Q9QY36, Q9UTI3, A1ADU8, O74311, O80438, P63420, P63421, P63422, P63423, P63424, P76539, Q0IHH1, Q0T275, Q0TF35, Q147X3, Q1R8T7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NAA10 | “form complex” | NatA | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
231 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 14 |
| Likely pathogenic | 14 |
| Uncertain significance | 65 |
| Likely benign | 44 |
| Benign | 27 |
Top pathogenic / likely-pathogenic (28)
| Variant ID | HGVS | Classification |
|---|---|---|
| 102423 | NM_003491.4(NAA10):c.471+2T>A | Pathogenic |
| 1028122 | NM_003491.4(NAA10):c.472-2A>C | Pathogenic |
| 139643 | NM_003491.4(NAA10):c.319G>T (p.Val107Phe) | Pathogenic |
| 208664 | NM_003491.4(NAA10):c.247C>T (p.Arg83Cys) | Pathogenic |
| 218104 | NM_003491.4(NAA10):c.128A>C (p.Tyr43Ser) | Pathogenic |
| 236258 | NM_003491.4(NAA10):c.384T>A (p.Phe128Leu) | Pathogenic |
| 280237 | NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) | Pathogenic |
| 29927 | NM_003491.4(NAA10):c.109T>C (p.Ser37Pro) | Pathogenic |
| 3340772 | NM_003491.4(NAA10):c.226G>A (p.Ala76Thr) | Pathogenic |
| 3766065 | NM_003491.4(NAA10):c.50G>A (p.Cys17Tyr) | Pathogenic |
| 520542 | NM_003491.4(NAA10):c.332T>G (p.Val111Gly) | Pathogenic |
| 561061 | NM_003491.4(NAA10):c.494_495del (p.Lys165fs) | Pathogenic |
| 640994 | NC_000023.10:g.(?153137587)(153363142_?)dup | Pathogenic |
| 973227 | NM_003491.4(NAA10):c.257T>G (p.Leu86Arg) | Pathogenic |
| 1211059 | NM_003491.4(NAA10):c.236G>A (p.Arg79His) | Likely pathogenic |
| 1299213 | NM_003491.4(NAA10):c.376C>G (p.Leu126Val) | Likely pathogenic |
| 1300802 | NM_003491.4(NAA10):c.49T>G (p.Cys17Gly) | Likely pathogenic |
| 1327568 | NM_003491.4(NAA10):c.469G>A (p.Glu157Lys) | Likely pathogenic |
| 1705306 | NM_003491.4(NAA10):c.128A>G (p.Tyr43Cys) | Likely pathogenic |
| 3376962 | NM_003491.4(NAA10):c.387-1G>A | Likely pathogenic |
| 372842 | NM_003491.4(NAA10):c.339G>T (p.Lys113Asn) | Likely pathogenic |
| 375388 | NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) | Likely pathogenic |
| 431708 | NM_003491.4(NAA10):c.361C>G (p.Leu121Val) | Likely pathogenic |
| 432646 | NM_003491.4(NAA10):c.92A>G (p.Tyr31Cys) | Likely pathogenic |
| 4681857 | NM_003491.4(NAA10):c.445C>G (p.Arg149Gly) | Likely pathogenic |
| 617463 | NM_003491.4(NAA10):c.*43A>G | Likely pathogenic |
| 637034 | NM_003491.4(NAA10):c.115C>A (p.Pro39Thr) | Likely pathogenic |
| 804121 | NM_003491.4(NAA10):c.377T>G (p.Leu126Arg) | Likely pathogenic |
SpliceAI
1122 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:153930231:C:CT | acceptor_gain | 1.0000 |
| X:153930239:C:CT | acceptor_gain | 1.0000 |
| X:153930240:A:T | acceptor_gain | 1.0000 |
| X:153930757:GCTTA:G | donor_loss | 1.0000 |
| X:153930759:TTACC:T | donor_loss | 1.0000 |
| X:153930760:TA:T | donor_loss | 1.0000 |
| X:153930761:A:AC | donor_gain | 1.0000 |
| X:153930761:ACCTC:A | donor_loss | 1.0000 |
| X:153930762:C:A | donor_loss | 1.0000 |
| X:153930762:C:CC | donor_gain | 1.0000 |
| X:153930762:CCT:C | donor_gain | 1.0000 |
| X:153930843:TGATC:T | acceptor_gain | 1.0000 |
| X:153930846:TC:T | acceptor_gain | 1.0000 |
| X:153930847:CC:C | acceptor_gain | 1.0000 |
| X:153930848:C:CA | acceptor_loss | 1.0000 |
| X:153930848:C:CC | acceptor_gain | 1.0000 |
| X:153930849:T:G | acceptor_loss | 1.0000 |
| X:153932116:C:CC | acceptor_gain | 1.0000 |
| X:153932297:C:A | donor_gain | 1.0000 |
| X:153932311:T:TA | donor_gain | 1.0000 |
| X:153932317:T:TA | donor_gain | 1.0000 |
| X:153932320:T:A | donor_gain | 1.0000 |
| X:153932341:A:AC | donor_gain | 1.0000 |
| X:153932427:ACAGC:A | acceptor_gain | 1.0000 |
| X:153932428:CAGC:C | acceptor_gain | 1.0000 |
| X:153932428:CAGCC:C | acceptor_gain | 1.0000 |
| X:153932429:AGC:A | acceptor_gain | 1.0000 |
| X:153932430:GC:G | acceptor_gain | 1.0000 |
| X:153932431:CC:C | acceptor_gain | 1.0000 |
| X:153932432:C:A | acceptor_loss | 1.0000 |
AlphaMissense
1561 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:153930782:A:G | L151P | 1.000 |
| X:153930788:C:G | R149P | 1.000 |
| X:153930793:C:A | M147I | 1.000 |
| X:153930793:C:G | M147I | 1.000 |
| X:153930793:C:T | M147I | 1.000 |
| X:153930794:A:C | M147R | 1.000 |
| X:153930794:A:G | M147T | 1.000 |
| X:153930794:A:T | M147K | 1.000 |
| X:153930798:C:G | A146P | 1.000 |
| X:153930801:A:C | Y145D | 1.000 |
| X:153930803:G:A | A144V | 1.000 |
| X:153930803:G:T | A144D | 1.000 |
| X:153930804:C:G | A144P | 1.000 |
| X:153930804:C:T | A144T | 1.000 |
| X:153930806:T:A | D143V | 1.000 |
| X:153930807:C:G | D143H | 1.000 |
| X:153930808:C:A | E142D | 1.000 |
| X:153930808:C:G | E142D | 1.000 |
| X:153930809:T:A | E142V | 1.000 |
| X:153930810:C:T | E142K | 1.000 |
| X:153930813:C:A | G141W | 1.000 |
| X:153930814:A:C | D140E | 1.000 |
| X:153930814:A:T | D140E | 1.000 |
| X:153930815:T:A | D140V | 1.000 |
| X:153930815:T:G | D140A | 1.000 |
| X:153930816:C:A | D140Y | 1.000 |
| X:153930816:C:G | D140H | 1.000 |
| X:153930818:G:T | A139E | 1.000 |
| X:153930819:C:G | A139P | 1.000 |
| X:153930821:T:C | Y138C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000986627 (X:153936747 C>T), RS1001424554 (X:153932816 C>A), RS1002425512 (X:153934657 G>C), RS1003101587 (X:153931010 G>A), RS10046980 (X:153934130 C>A,T), RS1004954870 (X:153932494 C>A,T), RS1005415418 (X:153932876 T>C,G), RS1005542383 (X:153929540 G>C,T), RS1006071227 (X:153929124 C>T), RS1007349241 (X:153936399 G>C), RS1007463744 (X:153935989 C>T), RS1008183008 (X:153931519 A>G), RS1008483395 (X:153931833 C>T), RS1009346 (X:153931231 G>C), RS1009347 (X:153931408 C>T)
Disease associations
OMIM: gene MIM:300013 | disease phenotypes: MIM:309800, MIM:300855, MIM:148840, MIM:300100, MIM:156200, MIM:300673
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Ogden syndrome | Definitive | X-linked |
| NAA10-related syndrome | Definitive | X-linked |
| microphthalmia, syndromic 1 | Moderate | X-linked |
| microphthalmia, Lenz type | Supportive | X-linked |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| NAA10-related syndrome | Definitive | XL |
Mondo (10): microphthalmia, syndromic 1 (MONDO:0010671), Ogden syndrome (MONDO:0010457), Kleine-Levin syndrome (MONDO:0007863), intellectual disability (MONDO:0001071), NAA10-related syndrome (MONDO:0100124), adrenoleukodystrophy (MONDO:0018544), intellectual disability, autosomal dominant (MONDO:0100172), severe neonatal-onset encephalopathy with microcephaly (MONDO:0010397), neurodevelopmental disorder (MONDO:0700092), microphthalmia, Lenz type (MONDO:0018924)
Orphanet (7): Microphthalmia, Lenz type (Orphanet:568), Microphthalmia-ankyloblepharon-intellectual disability syndrome (Orphanet:85275), Ogden syndrome (Orphanet:276432), Kleine-Levin syndrome (Orphanet:33543), X-linked adrenoleukodystrophy (Orphanet:43), MECP2-related severe neonatal encephalopathy (Orphanet:209370), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
216 total (30 of 216 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000034 | Hydrocele testis |
| HP:0000047 | Hypospadias |
| HP:0000072 | Hydroureter |
| HP:0000089 | Renal hypoplasia |
| HP:0000105 | Enlarged kidney |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0000126 | Hydronephrosis |
| HP:0000164 | Abnormality of the dentition |
| HP:0000189 | Narrow palate |
| HP:0000202 | Orofacial cleft |
| HP:0000204 | Cleft upper lip |
| HP:0000215 | Thick upper lip vermilion |
| HP:0000218 | High palate |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000233 | Thin vermilion border |
| HP:0000252 | Microcephaly |
| HP:0000260 | Wide anterior fontanel |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000290 | Abnormal forehead morphology |
| HP:0000308 | Microretrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000322 | Short philtrum |
| HP:0000337 | Broad forehead |
| HP:0000341 | Narrow forehead |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003155_27 | Systemic lupus erythematosus | 2.000000e-15 |
MeSH disease descriptors (7)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000326 | Adrenoleukodystrophy | C10.228.140.163.100.084; C10.228.140.163.100.362.250; C10.228.140.695.625.250; C10.314.400.250; C10.597.606.360.455.124; C16.320.322.500.124; C16.320.400.525.124; C16.320.565.189.084; C16.320.565.189.362.250; C16.320.565.663.100; C18.452.132.100.084; C18.452.132.100.362.250; C18.452.648.189.084; C18.452.648.189.362.250; C18.452.648.663.100; C19.053.500.270 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D017593 | Kleine-Levin Syndrome | C10.886.425.800.200.500; F03.870.400.800.200.500 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
| C566878 | Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (supp.) | |
| C537464 | Microphthalmia, syndromic 1 (supp.) | |
| C536107 | N acetyltransferase deficiency (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4630819 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.09 | Kd | 817.3 | nM | CHEMBL5653589 |
| 6.09 | ED50 | 817.3 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148814: Binding affinity to human NAA10 incubated for 45 mins by Kinobead based pull down assay | kd | 0.8173 | uM |
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 4 |
| bisphenol A | affects expression, decreases expression | 3 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 3 |
| Tretinoin | affects cotreatment, decreases expression, increases expression | 3 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, affects expression | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance, affects expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| moringin | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| cobaltous chloride | decreases expression | 1 |
| tanshinone | increases expression | 1 |
| nickel chloride | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Vehicle Emissions | increases abundance, decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4618912 | Binding | Binding affinity to Naa10 in human A549 cell lysates assessed as thermal stabilization of protein at 50 uM after 30 mins followed by heating at 40 to 64 degC for 3 mins by immunoblot-based CESTA | Characterization of Specific N-α-Acetyltransferase 50 (Naa50) Inhibitors Identified Using a DNA Encoded Library. — ACS Med Chem Lett |
Cellosaurus cell lines
1 cell lines: 1 telomerase immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C0QI | S37P-hTERT | Telomerase immortalized cell line | Male |
Clinical trials (associated diseases)
200 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT01793168 | Not specified | RECRUITING | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford |
| NCT02337023 | Not specified | COMPLETED | Brain Scintigraphy in Normal Versus Kleine-Levin Syndrome Subjects |
| NCT03754348 | Not specified | COMPLETED | Microglial Activation in Narcolepsy Type 1 and Kleine-Levin Syndrome: Positron Emission Tomography (PET) Study in [18F] DPA-714 |
| NCT03479476 | PHASE2/PHASE3 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome |
| NCT02616796 | PHASE1/PHASE2 | COMPLETED | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome |
| NCT06860672 | EARLY_PHASE1 | RECRUITING | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation |
| NCT00597948 | Not specified | COMPLETED | Healthy Lifestyles for People With Intellectual Disabilities |
| NCT01087320 | Not specified | RECRUITING | Genome Medical Sequencing for Gene Discovery |
| NCT01652963 | Not specified | UNKNOWN | Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills |
| NCT01695395 | Not specified | COMPLETED | Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder |
| NCT01867554 | Not specified | COMPLETED | Research and Characterization of New Genes Involved in Intellectual Disability |
| NCT01915381 | Not specified | COMPLETED | Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities |
| NCT01988623 | Not specified | COMPLETED | Pivotal Response Treatment for Individuals With Intellectual Disabilities |
| NCT02099773 | Not specified | COMPLETED | Support Staff-client Interactions With Augmentative and Alternative Communication |
| NCT02136849 | Not specified | COMPLETED | Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic |
| NCT02225041 | Not specified | COMPLETED | Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood |
| NCT02414438 | Not specified | COMPLETED | Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study |
| NCT02451761 | Not specified | COMPLETED | Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability |
| NCT02461420 | Not specified | ACTIVE_NOT_RECRUITING | Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome |
| NCT02461459 | Not specified | ACTIVE_NOT_RECRUITING | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) |
| NCT02486081 | Not specified | COMPLETED | Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population |
| NCT02504502 | Not specified | COMPLETED | Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients |
| NCT02513277 | Not specified | COMPLETED | Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study |
| NCT02561754 | Not specified | COMPLETED | Weight Management for Adolescents With IDD |
| NCT02591446 | Not specified | COMPLETED | Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders |
| NCT02714868 | Not specified | COMPLETED | Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications) |
Related Atlas pages
- Associated diseases: Ogden syndrome, microphthalmia, syndromic 1, microphthalmia, Lenz type, NAA10-related syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): adrenoleukodystrophy, intellectual disability, autosomal dominant, Kleine-Levin syndrome, microphthalmia, Lenz type, microphthalmia, syndromic 1, NAA10-related syndrome, Ogden syndrome, severe neonatal-onset encephalopathy with microcephaly