NAT8L - N-acetyltransferase 8 like Gene

Also Known as CML3; NACED; NAT8-LIKE

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 339983

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 References 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 References 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

Acetyltransf_1: Acetyltransferase (GNAT) family (189 - 265)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. 상품명
효과
Purity
Rare Diseases
HY-RS09044 NAT8L Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-181719 NAT8L-IN-1 Inhibitor / Unkown
HY-181750 NAT8L-IN-2 / Unkown
HY-RS22671 Nat8l Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29185 Nat8l Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others NAT8L NCBI