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

    Gene ID: 24142, updated on 28-Oct-2024

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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)

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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.

    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.

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