U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 339983, updated on 17-Jun-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NAT8L in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (2059327..2069089)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (2057805..2067569)
    105.20220307 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
    • 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)

    NEW Try the new Transcript table

    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_2023_10

    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)