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NAT8L N-acetyltransferase 8 like [ Homo sapiens (human) ]

Gene ID: 339983, updated on 19-Sep-2024

Summary

Official Symbol
NAT8Lprovided by HGNC
Official Full Name
N-acetyltransferase 8 likeprovided by HGNC
Primary source
HGNC:HGNC:26742
See related
Ensembl:ENSG00000185818 MIM:610647; AllianceGenome:HGNC:26742
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CML3; NACED; NAT8-LIKE
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]
Expression
Biased expression in fat (RPKM 41.3), brain (RPKM 25.5) and 2 other tissues See more
Orthologs
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Genomic context

See NAT8L in Genome Data Viewer
Location:
4p16.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (2059327..2069089)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (2057805..2067569)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (2061054..2070816)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1993535-1994374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1999747-2000246 Neighboring gene microRNA 943 Neighboring gene negative elongation factor complex member A Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:2010384-2010884 Neighboring gene uncharacterized LOC124900839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2042861-2043362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15155 Neighboring gene NELL2 interacting cell ontogeny regulator 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2068259-2068872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2071383-2072064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2077922-2078535 Neighboring gene HBS1 like translational GTPase pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2094512-2095012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2095013-2095513 Neighboring gene DNA polymerase nu Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2127861-2128566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2128567-2129273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2136917-2137418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2137419-2137918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21164 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:2143774-2144295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15156 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:2175172-2176371 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:2188158-2188330 Neighboring gene Sharpr-MPRA regulatory region 8787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15157 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2222888-2223812 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:2243031-2243532 Neighboring gene cytochrome c oxidase subunit 6B1 pseudogene 5 Neighboring gene HAUS augmin like complex subunit 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ37478, MGC117272, DKFZp566H184, DKFZp434B0650

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aspartate N-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables aspartate N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables aspartate N-acetyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables aspartate N-acetyltransferase activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in aspartate family amino acid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
N-acetylaspartate synthetase
Names
N-acetyltransferase 8-like (GCN5-related, putative)
NAA synthetase
Shati
camello-like protein 3
NP_848652.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027961.1 RefSeqGene

    Range
    4816..14578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_178557.4NP_848652.2  N-acetylaspartate synthetase

    See identical proteins and their annotated locations for NP_848652.2

    Status: REVIEWED

    Source sequence(s)
    AL132868, BC010045, BC103748
    Consensus CDS
    CCDS3359.2
    UniProtKB/Swiss-Prot
    Q8N9F0
    Related
    ENSP00000413064.2, ENST00000423729.3
    Conserved Domains (1) summary
    pfam00583
    Location:157264
    Acetyltransf_1; Acetyltransferase (GNAT) family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    2059327..2069089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    2057805..2067569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)