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

Gene ID: 339983, updated on 19-Sep-2018

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
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

Genomic context

See NAT8L in Genome Data Viewer
Location:
4p16.3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (2059512..2069089)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (2061239..2070816)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene negative elongation factor complex member A Neighboring gene microRNA 943 Neighboring gene chromosome 4 open reading frame 48 Neighboring gene HBS1 like translational GTPase pseudogene Neighboring gene DNA polymerase nu 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37478, MGC117272, DKFZp566H184, DKFZp434B0650

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aspartate N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
aspartate N-acetyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cellular amino acid biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
rough endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
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)

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, ENST00000423729.2
    Conserved Domains (1) summary
    pfam00583
    Location:158264
    Acetyltransf_1; Acetyltransferase (GNAT) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    2059512..2069089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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