NAT8L - N-acetyltransferase 8 like Gene

Homo sapiens

Also known as CML3; NACED; NAT8-LIKE

Gene ID: 339983 | Gene type: protein coding

About NAT8L

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:2,059,327-2,069,089 (from NCBI)

This gene has 1 transcript (splice variant), 194 orthologues, 3 paralogues and is associated with 1 phenotype. Biased expression in fat (RPKM 41.3), brain (RPKM 25.5) and 2 other tissues.

Summary

This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic Enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010]

NAT8L Products(1)

mRNA	Protein	Name
NM_178557.4	NP_848652.2	N-acetylaspartate synthetase

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables aspartate N-acetyltransferase activity	IDA IDA: Inferred from direct assay	19524112	GOA
enables aspartate N-acetyltransferase activity	IMP IMP: Inferred from mutant phenotype	19807691	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19524112	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	19524112	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NAT8L Protein Structure

Acetyltransf_1

0
100
200
302 a.a.

Protein Preferred Names

Protein Names

N-acetylaspartate synthetase

N-acetyltransferase 8-like (GCN5-related, putative)

NAT8L Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NAT8L	Q8N9F0	PEX19	Homo sapiens	P40855	Y2H Prey Pooling	32296183
Intra	NAT8L	Q8N9F0	PEX19	Homo sapiens	P40855	Y2H Array	32296183
Intra	NAT8L	Q8N9F0	KIAA0232	Homo sapiens	Q92628	Anti Tag CoIP	28514442
Intra	NAT8L	Q8N9F0	KIAA0232	Homo sapiens	Q92628	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

N-Acetylaspartate Deficiency

NACED	Naa Deficiency
Hypoacetylaspartia	Deficiency, N-Acetylaspartate

Canavan Disease

Aspartoacylase Deficiency	Aminoacylase 2 Deficiency
Spongy Degeneration Of Central Nervous System	Aspa Deficiency
Acy2 Deficiency	Canavan-Van Bogaert-Bertrand Disease
Mild Canavan Disease	Asp Deficiency
Spongy Degeneration Of The Central Nervous System	Severe Canavan Disease
Von Bogaert-Bertrand Disease	Canavan'S Disease
Spongy Degeneration Of The Brain	Juvenile Canavan Disease
Infantile Canavan Disease	Neonatal Canavan Disease
CAND	Disease, Canavan
Canavan Disease, Juvenile	Canavan Disease, Infantile
Canavan Disease, Neonatal

Developmental And Epileptic Encephalopathy 39

Hypomyelination, Global Cerebral	Agc1 Deficiency
Epileptic Encephalopathy, Early Infantile, 39	DEE39
Eiee39	Aspartate-Glutamate Carrier 1 Deficiency
Epileptic Encephalopathy With Global Cerebral Demyelination	Developmental And Epileptic Encephalopathy, 39
Early Infantile Epileptic Encephalopathy 39	Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency
Global Cerebral Hypomyelination	Hereditary Central Nervous System Demyelinating Diseases

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09044	NAT8L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NAT8L	VGNC	VGNC:107352
Mus musculus	NAT8L	MGD	MGI:2447776
Canis familiaris	NAT8L	VGNC	VGNC:43628
Rattus norvegicus	NAT8L	RGD	RGD:1305719

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