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NAT8L (NM_178557) - N-acetyltransferase 8 like

N-Acetylaspartate Synthetase

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of NAT8L protein.
NAT8L: N-acetylaspartate synthetase
Description:

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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly.

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: AK094797.1, BC103748.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142680 [ECO:0000348]

##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000423729.3/ ENSP00000413064.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Strand
+
Chromosome
4
Protein
302 residues
All mutations
27
PTM sites
1
CDS
2,061,238 - 2,065,854
Transcription
2,061,238 - 2,070,816
14.9% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 339983
UniProt
Ensembl