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    NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit [ Homo sapiens (human) ]

    Gene ID: 79829, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NAA40provided by HGNC
    Official Full Name
    N-alpha-acetyltransferase 40, NatD catalytic subunitprovided by HGNC
    Primary source
    HGNC:HGNC:25845
    See related
    Ensembl:ENSG00000110583 MIM:619999; AllianceGenome:HGNC:25845
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NatD; NAT11; PATT1; hNatD
    Summary
    Enables histone H2A acetyltransferase activity; histone H4 acetyltransferase activity; and peptide-serine-alpha-N-acetyltransferase activity. Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within lipid metabolic process. Located in centriolar satellite; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 9.3), spleen (RPKM 7.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NAA40 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (63939002..63957319)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (63928708..63947014)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (63706474..63724791)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene microtubule affinity regulating kinase 2 Neighboring gene tRNA-Arg (anticodon CCT) 9-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63670286-63671098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63674933-63675606 Neighboring gene Sharpr-MPRA regulatory region 844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63682139-63683091 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:63683713-63684376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3450 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63687688-63688350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63688351-63689011 Neighboring gene REST corepressor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63705477-63705977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4879 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:63706395-63706580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63712515-63713444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63728699-63729256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4880 Neighboring gene RNA, U6 small nuclear 45, pseudogene Neighboring gene cytochrome c oxidase subunit 8A

    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
    • 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. Structure of Patt1 human proapoptotic histone acetyltransferase. Jędrzejewski RP, et al. J Mol Model, 2013 Dec. PMID 24248912, Free PMC Article
    2. Depletion of histone N-terminal-acetyltransferase Naa40 induces p53-independent apoptosis in colorectal cancer cells via the mitochondrial pathway. Pavlou D, et al. Apoptosis, 2016 Mar. PMID 26666750, Free PMC Article
    3. The human N-alpha-acetyltransferase 40 (hNaa40p/hNatD) is conserved from yeast and N-terminally acetylates histones H2A and H4. Hole K, et al. PLoS One, 2011. PMID 21935442, Free PMC Article
    4. Effects of Oncohistone Mutations and PTM Crosstalk on the N-Terminal Acetylation Activities of NatD. Ho YH, et al. ACS Chem Biol, 2023 Apr 21. PMID 35044762, Free PMC Article
    5. NAA40 contributes to colorectal cancer growth by controlling PRMT5 expression. Demetriadou C, et al. Cell Death Dis, 2019 Mar 11. PMID 30858358, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effects of Oncohistone Mutations and PTM Crosstalk on the N-Terminal Acetylation Activities of NatD.
      Title: Effects of Oncohistone Mutations and PTM Crosstalk on the N-Terminal Acetylation Activities of NatD.
    2. The findings strengthen the importance of NAA40 to maintain colorectal cancer cell growth. We show that NAA40 oncogenic properties stimulate the global levels of H4R3me2s by transcriptionally activating PRMT5 methyltransferase which in turn modulates the expression of key downstream cancer-related genes.
      Title: NAA40 contributes to colorectal cancer growth by controlling PRMT5 expression.
    3. NatD-mediated acetylation of histone H4 serine 1 competes with phosphorylation by CK2alpha at the same residue, leading to the upregulation of Slug and lung cancer progression.
      Title: NatD promotes lung cancer progression by preventing histone H4 serine phosphorylation to activate Slug expression.
    4. findings reveal an anti-apoptotic role for Naa40 and exhibit its potential as a therapeutic target in colorectal cancers.
      Title: Depletion of histone N-terminal-acetyltransferase Naa40 induces p53-independent apoptosis in colorectal cancer cells via the mitochondrial pathway.
    5. The knowledge of detailed molecular architecture of Patt1 is not only the key to understanding its mechanistic functional properties but it also opens the possibility of rational drug and protein design experiments
      Title: Structure of Patt1 human proapoptotic histone acetyltransferase.
    6. Results strongly suggest that human Naa40p/NatD is conserved from yeast. Thus, the NATs of all classes of N-terminally acetylated proteins in humans now appear to be accounted for.
      Title: The human N-alpha-acetyltransferase 40 (hNaa40p/hNatD) is conserved from yeast and N-terminally acetylates histones H2A and H4.
    7. a novel protein acetyltransferase Patt1 might be involved in the development of hepatocellular carcinoma
      Title: Patt1, a novel protein acetyltransferase that is highly expressed in liver and downregulated in hepatocellular carcinoma, enhances apoptosis of hepatoma cells.
    Submit: New GeneRIF Correction

    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)

    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

    Clone Names

    • FLJ13848

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone H2A acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone H2A acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H4 acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone H4 acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptide-serine-alpha-N-acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide-serine-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 chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    N-alpha-acetyltransferase 40
    Names
    N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog
    N-acetyltransferase 11 (GCN5-related, putative)
    N-alpha acetyl transferase 40
    N-alpha-acetyltransferase D
    natD catalytic subunit
    protein acetyltransferase 1
    NP_001287729.1
    NP_079047.2
    XP_006718752.1
    XP_011543556.2
    XP_047283566.1
    XP_054225961.1
    XP_054225962.1
    XP_054225963.1

    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_001300800.1 → NP_001287729.1  N-alpha-acetyltransferase 40 isoform 2

      See identical proteins and their annotated locations for NP_001287729.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate exon in place of the first exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AP003780, BC041617, DC307984, HY009487
      Consensus CDS
      CCDS73311.1
      UniProtKB/TrEMBL
      F2YHM7
      Related
      ENSP00000442055.1, ENST00000542163.1
      Conserved Domains (1) summary
      pfam00583
      Location:59 → 167
      Acetyltransf_1; Acetyltransferase (GNAT) family

    2. NM_024771.4 → NP_079047.2  N-alpha-acetyltransferase 40 isoform 1

      See identical proteins and their annotated locations for NP_079047.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AP003780
      Consensus CDS
      CCDS8053.1
      UniProtKB/Swiss-Prot
      B4DR03, B4DU10, Q5HYL5, Q86UY6, Q9H897
      UniProtKB/TrEMBL
      F2YHM7
      Related
      ENSP00000367024.4, ENST00000377793.9
      Conserved Domains (1) summary
      pfam00583
      Location:80 → 188
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      63939002..63957319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545254.3 → XP_011543556.2  N-alpha-acetyltransferase 40 isoform X1

      UniProtKB/TrEMBL
      F2YHM7

    2. XM_006718689.4 → XP_006718752.1  N-alpha-acetyltransferase 40 isoform X3

      UniProtKB/TrEMBL
      F2YHM7
      Conserved Domains (1) summary
      pfam00583
      Location:117 → 157
      Acetyltransf_1; Acetyltransferase (GNAT) family

    3. XM_047427610.1 → XP_047283566.1  N-alpha-acetyltransferase 40 isoform X2

      UniProtKB/TrEMBL
      F2YHM7
      Related
      ENST00000338447.10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      63928708..63947014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369986.1 → XP_054225961.1  N-alpha-acetyltransferase 40 isoform X1

      UniProtKB/TrEMBL
      F2YHM7

    2. XM_054369988.1 → XP_054225963.1  N-alpha-acetyltransferase 40 isoform X3

      UniProtKB/TrEMBL
      F2YHM7

    3. XM_054369987.1 → XP_054225962.1  N-alpha-acetyltransferase 40 isoform X2

      UniProtKB/TrEMBL
      F2YHM7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UY6.1 GenPept UniProtKB/Swiss-Prot:Q86UY6

    Gene LinkOut

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

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