Homo sapiens Gene: NAT8L
Summary
InnateDB Gene IDBG-7315.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NAT8L
Gene Name N-acetyltransferase 8-like (GCN5-related, putative)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000185818
Encoded Proteins
N-acetyltransferase 8-like (GCN5-related, putative)
N-acetyltransferase 8-like (GCN5-related, putative)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:2059512-2069089
Strand Forward strand
Band p16.3
Transcripts
ENST00000331662 ENSP00000328464
ENST00000423729 ENSP00000413064
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0008080 N-acetyltransferase activity
GO:0017188 aspartate N-acetyltransferase activity
Biological Process
GO:0008152 metabolic process
GO:0051586 positive regulation of dopamine uptake involved in synaptic transmission
Cellular Component
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0030867 rough endoplasmic reticulum membrane
GO:0031966 mitochondrial membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Alanine, aspartate and glutamate metabolism pathway
INOH
PID NCI
Cross-References
SwissProt Q8N9F0
TrEMBL
UniProt Splice Variant
Entrez Gene 339983
UniGene Hs.318529
RefSeq NM_178557 XM_006710156
HUGO HGNC:26742
OMIM 610647
CCDS CCDS3359
HPRD
IMGT
EMBL AK094797 AL132868 BC093906 BC093908 BC103748 CN256164
GenPept AAH93906 AAH93908 AAI03749 BAC04426 CAM15218
RNA Seq Atlas 339983