U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit [ Homo sapiens (human) ]

Gene ID: 24142, updated on 2-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
NAA80provided by HGNC
Official Full Name
N-alpha-acetyltransferase 80, NatH catalytic subunitprovided by HGNC
Primary source
HGNC:HGNC:30252
See related
Ensembl:ENSG00000243477 MIM:607073; AllianceGenome:HGNC:30252
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
ANDS; FUS2; NAT6; FUS-2; HsNAAA80
Summary
This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]
Expression
Broad expression in testis (RPKM 16.6), bone marrow (RPKM 8.4) and 24 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See NAA80 in Genome Data Viewer
Location:
3p21.31
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50296402..50299405, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50325758..50328761, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50333833..50336836, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene semaphorin 3B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50310784-50311307 Neighboring gene microRNA 6872 Neighboring gene leucine rich single-pass membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19898 Neighboring gene interferon related developmental regulator 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50330739-50331294 Neighboring gene hyaluronidase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19899 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50340489-50341423 Neighboring gene hyaluronidase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50357211-50357884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50359913-50360586 Neighboring gene hyaluronidase 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Characterization of a new SNP c767A/T (Arg222Trp) in the candidate TSG FUS2 on human chromosome 3p21.3: prevalence in Asian populations and analysis of association with nasopharyngeal cancer. Duh FM, et al. Mol Cell Probes, 2004 Feb. PMID 15036368
  2. N-terminal acetyltransferase 6 facilitates enterovirus 71 replication by regulating PI4KB expression and replication organelle biogenesis. Yang H, et al. J Virol, 2024 Feb 20. PMID 38189249, Free PMC Article
  3. The putative tumour suppressor Fus-2 is an N-acetyltransferase. Zegerman P, et al. Oncogene, 2000 Jan 6. PMID 10644992
  4. PFN2 and NAA80 cooperate to efficiently acetylate the N-terminus of actin. Ree R, et al. J Biol Chem, 2020 Dec 4. PMID 32978259, Free PMC Article
  5. Expression of candidate chromosome 3p21.3 tumor suppressor genes and down-regulation of BLU in some esophageal squamous cell carcinomas. Yi Lo PH, et al. Cancer Lett, 2006 Mar 28. PMID 15885884

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. N-terminal acetyltransferase 6 facilitates enterovirus 71 replication by regulating PI4KB expression and replication organelle biogenesis.
    Title: N-terminal acetyltransferase 6 facilitates enterovirus 71 replication by regulating PI4KB expression and replication organelle biogenesis.
  2. The Final Maturation State of beta-actin Involves N-terminal Acetylation by NAA80, not N-terminal Arginylation by ATE1.
    Title: The Final Maturation State of β-actin Involves N-terminal Acetylation by NAA80, not N-terminal Arginylation by ATE1.
  3. PFN2 and NAA80 cooperate to efficiently acetylate the N-terminus of actin.
    Title: PFN2 and NAA80 cooperate to efficiently acetylate the N-terminus of actin.
  4. N-terminal acetylation of actin by NAA80 is essential for structural integrity of the Golgi apparatus.
    Title: N-terminal acetylation of actin by NAA80 is essential for structural integrity of the Golgi apparatus.
  5. findings reveal that NAT6 plays a critical role in the maturation of actins by carrying out the acetylation of their N-terminal acidic residue
    Title: NAT6 acetylates the N-terminus of different forms of actin.
  6. this study reveals the molecular and cellular basis of NAA80 Nt acetylation and provides a scaffold for development of inhibitors for the regulation of cytoskeletal properties.
    Title: Structural determinants and cellular environment define processed actin as the sole substrate of the N-terminal acetyltransferase NAA80.
  7. the results demonstrate NAA80's role as actin's NAT and reveal a crucial role for actin Nt-acetylation in the control of cytoskeleton structure and dynamics.
    Title: NAA80 is actin's N-terminal acetyltransferase and regulates cytoskeleton assembly and cell motility.
  8. NAA80/NatH is dedicated to the post-translational N-terminal acetylation of processed actins. The structure of NAA80 reveals features like a positively charged catalytic groove perfectly suited to bind the acidic actin N-terminus. A cellular factor restricting NAA80 to processed actins is NatB, which co-translationally acetylates all cellular Met-starting N-termini with acidic amino acids at the second position.
    Title: Structural determinants and cellular environment define processed actin as the sole substrate of the N-terminal acetyltransferase NAA80.
  9. NAT6/FUS-2 is the N-alpha acetyltransferase 80 (NAA80/NatH) acting post-translationally and specifically on processed animal actins. This NAA80 mediated actin N-terminal acetylation is crucial for actin polymerization and depolymerization, and regulates the actin cytoskeleton and cell motility.
    Title: NAA80 is actin's N-terminal acetyltransferase and regulates cytoskeleton assembly and cell motility.
  10. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
    Title: A gene-based risk score for lung cancer susceptibility in smokers and ex-smokers.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables acetyl-CoA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables acetyl-CoA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables peptide alpha-N-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peptide alpha-N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in N-terminal peptidyl-aspartic acid acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in N-terminal peptidyl-glutamic acid acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in actin modification IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of actin polymerization or depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of actin polymerization or depolymerization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
N-alpha-acetyltransferase 80
Names
N-acetyltransferase 6 (GCN5-related)
protein fusion-2
NP_001186945.1
NP_001186947.1
NP_036323.2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

  1. NM_001200016.2 → NP_001186945.1  N-alpha-acetyltransferase 80 isoform 2

    See identical proteins and their annotated locations for NP_001186945.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate splice site in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same protein.
    Source sequence(s)
    AK313803, BM989194
    Consensus CDS
    CCDS56258.1
    UniProtKB/Swiss-Prot
    Q93014, Q93015
    UniProtKB/TrEMBL
    A0A024R2Z7, Q6IAP1
    Related
    ENSP00000410610.2, ENST00000443094.3
    Conserved Domains (1) summary
    pfam00583
    Location:119 → 189
    Acetyltransf_1; Acetyltransferase (GNAT) family

  2. NM_001200018.2 → NP_001186947.1  N-alpha-acetyltransferase 80 isoform 2

    See identical proteins and their annotated locations for NP_001186947.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same protein.
    Source sequence(s)
    AF040706, BC004483, BM147777
    Consensus CDS
    CCDS56258.1
    UniProtKB/Swiss-Prot
    Q93014, Q93015
    UniProtKB/TrEMBL
    A0A024R2Z7, Q6IAP1
    Related
    ENSP00000391893.1, ENST00000417393.1
    Conserved Domains (1) summary
    pfam00583
    Location:119 → 189
    Acetyltransf_1; Acetyltransferase (GNAT) family

  3. NM_012191.4 → NP_036323.2  N-alpha-acetyltransferase 80 isoform 1

    See identical proteins and their annotated locations for NP_036323.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK313803, BC004483
    Consensus CDS
    CCDS43095.1
    UniProtKB/Swiss-Prot
    Q93015
    UniProtKB/TrEMBL
    Q6IAP1
    Related
    ENSP00000346927.4, ENST00000354862.4
    Conserved Domains (1) summary
    pfam00583
    Location:141 → 211
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    50296402..50299405 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    50325758..50328761 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q93015.2 GenPept UniProtKB/Swiss-Prot:Q93015

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools