U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 24142, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NAA80 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50296402..50299405, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50325758..50328761, complement)
    105.20220307 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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 IDA
    Inferred from Direct Assay
    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

    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)

    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_001200016.2NP_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:119189
      Acetyltransf_1; Acetyltransferase (GNAT) family
    2. NM_001200018.2NP_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:119189
      Acetyltransf_1; Acetyltransferase (GNAT) family
    3. NM_012191.4NP_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:141211
      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_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)