Naa80

N-acetyltransferase 80 (also known as NAT6 or FUS2) is a protein that in humans is encoded by the NAA80 gene.^[5] It acetylates the N-terminus of mature actin.^[6]

Crystal structure of Drosophila melanogaster Naa80. Substrate peptide is shown as yellow sticks and CoA is shown as cyan sticks. Enzyme is displayed as cyan cartoon. (PDB ID: 5WJE)

NAA80
Identifiers
Aliases	NAA80, FUS-2, FUS2, N-acetyltransferase 6, NAT6, N(alpha)-acetyltransferase 80, NatH catalytic subunit, HsNAAA80, N-alpha-acetyltransferase 80, NatH catalytic subunit
External IDs	OMIM: 607073; MGI: 1888902; HomoloGene: 36325; GeneCards: NAA80; OMA:NAA80 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p21.31 Start 50,296,402 bp[1] End 50,299,416 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 F1|9 58.18 cM Start 107,456,086 bp[2] End 107,461,249 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis apex of heart right hemisphere of cerebellum granulocyte right frontal lobe skin of abdomen body of stomach right lung prefrontal cortex Top expressed in left lobe of liver seminiferous tubule lacrimal gland lip muscle of thigh right kidney spermatid choroid plexus of fourth ventricle brown adipose tissue proximal tubule More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity acyltransferase activity N-acetyltransferase activity acetyl-CoA binding peptide alpha-N-acetyltransferase activity Cellular component cytoplasm cytosol Biological process protein acetylation regulation of actin polymerization or depolymerization N-terminal peptidyl-aspartic acid acetylation N-terminal peptidyl-glutamic acid acetylation actin modification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 24142 56441 Ensembl ENSG00000243477 ENSMUSG00000079334 UniProt Q93015 Q6IAP1 Q9R123 RefSeq (mRNA) NM_012191 NM_001200016 NM_001200018 NM_019750 RefSeq (protein) NP_001186945 NP_001186947 NP_036323 NP_001186945.1 NP_001186947.1 NP_036323.2 NP_062724 Location (UCSC) Chr 3: 50.3 – 50.3 Mb Chr 9: 107.46 – 107.46 Mb PubMed search [3] [4]
Wikidata
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Function

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 N-termini that are enriched for acidic residues.^[7] 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].

Naa80 acetylates the N-terminus of mature actin. This N-terminal acetylation affects the rates of actin filament depolymerization and elongation, and the overall morphology of the cell.^[6]

Structure

Naa80 is a member of the GNAT family of acetyltransferases.^[8] It has an overall fold similar to the other N-terminal acetyltransferases, but has a more open, basic active site to accommodate the acidic N-terminus of actin. Naa80 can acetylate peptides with different N-terminal residues, but the presence of acidic residues in positions 2 and 3 is important for substrate specificity.^[8][7] Most Naa80 orthologs have an extended polyproline loop which may be important for actin binding through profilin.^[6][8]

Clinical Significance

Naa80 is thought to be involved in the function of the inner ear, brain and muscle, as individuals of one single family with bi-allelic mutations in NAA80 show sensorineural hearing loss, developmental delay, muscle weakness and craniofacial dysmorphisms.^[9]