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    NAA25 N-alpha-acetyltransferase 25, NatB auxiliary subunit [ Homo sapiens (human) ]

    Gene ID: 80018, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NAA25provided by HGNC
    Official Full Name
    N-alpha-acetyltransferase 25, NatB auxiliary subunitprovided by HGNC
    Primary source
    HGNC:HGNC:25783
    See related
    Ensembl:ENSG00000111300 MIM:612755; AllianceGenome:HGNC:25783
    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
    NAP1; MDM20; C12orf30
    Summary
    This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.6), lymph node (RPKM 4.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NAA25 in Genome Data Viewer
    Location:
    12q24.13
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (112026689..112108783, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (112003594..112085687, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112464493..112546587, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112448927-112449440 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:112449945-112450833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7043 Neighboring gene immediate early response 3 interacting protein 1 pseudogene Neighboring gene uncharacterized LOC124903021 Neighboring gene NANOG hESC enhancer GRCh37_chr12:112471007-112471508 Neighboring gene uncharacterized LOC124903022 Neighboring gene endoplasmic reticulum protein 29 Neighboring gene microRNA 3657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112540436-112540936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112544255-112544756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4881 Neighboring gene Sharpr-MPRA regulatory region 5940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7046 Neighboring gene TRAF-type zinc finger domain containing 1 Neighboring gene microRNA 6861 Neighboring gene HECT domain E3 ubiquitin protein ligase 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Genome-wide long non-coding RNA association study on Han Chinese women identifies lncHSAT164 as a novel susceptibility gene for breast cancer. Xu JK, et al. Chin Med J (Engl), 2021 Mar 22. PMID 34018994, Free PMC Article
    2. Identification of the human N(alpha)-acetyltransferase complex B (hNatB): a complex important for cell-cycle progression. Starheim KK, et al. Biochem J, 2008 Oct 15. PMID 18570629
    3. Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly. Morrison J, et al. Genet Med, 2021 Nov. PMID 34230638, Free PMC Article
    4. Mdm20 Modulates Actin Remodeling through the mTORC2 Pathway via Its Effect on Rictor Expression. Yasuda K, et al. PLoS One, 2015. PMID 26600389, Free PMC Article
    5. The relationship between the prognosis of children with acute arterial stroke and polymorphisms of CDKN2B, HDAC9, NINJ2, NAA25 genes. Bozpolat A, et al. J Thromb Thrombolysis, 2019 May. PMID 30656483

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genome-wide long non-coding RNA association study on Han Chinese women identifies lncHSAT164 as a novel susceptibility gene for breast cancer.
      Title: Genome-wide long non-coding RNA association study on Han Chinese women identifies lncHSAT164 as a novel susceptibility gene for breast cancer.
    2. The relationship between the prognosis of children with acute arterial stroke and polymorphisms of CDKN2B, HDAC9, NINJ2, NAA25 genes.
      Title: The relationship between the prognosis of children with acute arterial stroke and polymorphisms of CDKN2B, HDAC9, NINJ2, NAA25 genes.
    3. Mdm20 acts as a novel regulator of Rictor, thereby controlling mTORC2 activity, and leading to the activation of PKCalphaS657 and FoxO1.
      Title: Mdm20 Modulates Actin Remodeling through the mTORC2 Pathway via Its Effect on Rictor Expression.
    4. The human NatB complex composed of Naa20 (NAT3) and Naa25 (MDM20) N-terminally acetylates Met-Glu-, Met-Asp-, Met-Asn- and Met-Gln- N-termini, and is important for the structure and function of actomyosin fibers and for proper cellular migration.
      Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide searching of rare genetic variants in WTCCC data.
    6. The C120rf30 gene maps into a region of extensive linkage disequilibrium including several genes that represent functional candidates of type 1 diabetes-susceptibility.
      Title: Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.
    7. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk.
    8. There are associations between juvenile idiopathic arthritis and variants in the TNFAIP3, STAT4, and C12orf30 regions that have previously shown associations with other autoimmune diseases, including rheumatoid arthritis and systemic lupus erythematosus.
      Title: Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.
    10. Human N-acetyltransferase complexe NatB consists of human N-acetyltransferase 3 and human MDM20. The hMDM20 knockdown decreased the fraction of cells in G(0)/G(1)-phase and increased the fraction of cells in the sub-G(0)/G(1)-phase.
      Title: Identification of the human N(alpha)-acetyltransferase complex B (hNatB): a complex important for cell-cycle progression.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
    EBI GWAS Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
    EBI GWAS Catalog
    Novel associations for hypothyroidism include known autoimmune risk loci.
    EBI GWAS Catalog
    Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
    EBI GWAS Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    EBI GWAS Catalog

    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

    • FLJ13089, DKFZp667K2112

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetyltransferase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    part_of NatB complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of NatB complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    		  

    General protein information

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    Preferred Names
    N-alpha-acetyltransferase 25, NatB auxiliary subunit
    Names
    N-terminal acetyltransferase B complex subunit NAA25
    mitochondrial distribution and morphology 20
    natB complex subunit MDM20

    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.

    Genomic

    1. NG_017071.1 RefSeqGene

      Range
      5049..87143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024953.4 → NP_079229.2  N-alpha-acetyltransferase 25, NatB auxiliary subunit

      See identical proteins and their annotated locations for NP_079229.2

      Status: REVIEWED

      Source sequence(s)
      AA653507, BC047640, BC113587, BX647450
      Consensus CDS
      CCDS9159.1
      UniProtKB/Swiss-Prot
      A0JLU7, Q14CX7, Q6MZH1, Q7Z4N6, Q9H911
      UniProtKB/TrEMBL
      A8K8X0
      Related
      ENSP00000261745.4, ENST00000261745.9
      Conserved Domains (3) summary
      TIGR02917
      Location:22 → 213
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:47 → 73
      TPR; TPR repeat [structural motif]
      pfam09797
      Location:264 → 658
      NatB_MDM20; N-acetyltransferase B complex (NatB) non catalytic subunit

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      112026689..112108783 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719606.3 → XP_006719669.1  N-alpha-acetyltransferase 25, NatB auxiliary subunit isoform X2

      UniProtKB/TrEMBL
      A8K8X0
      Conserved Domains (3) summary
      sd00008
      Location:478 → 505
      TPR_YbbN; TPR repeat [structural motif]
      sd00006
      Location:19 → 45
      TPR; TPR repeat [structural motif]
      pfam09797
      Location:235 → 627
      NatB_MDM20; N-acetyltransferase B complex (NatB) non catalytic subunit

    2. XM_047429557.1 → XP_047285513.1  N-alpha-acetyltransferase 25, NatB auxiliary subunit isoform X1

      UniProtKB/TrEMBL
      A8K8X0

    RNA

    1. XR_944730.4 RNA Sequence

    2. XR_243023.5 RNA Sequence

    3. XR_944731.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      112003594..112085687 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373255.1 → XP_054229230.1  N-alpha-acetyltransferase 25, NatB auxiliary subunit isoform X2

      UniProtKB/TrEMBL
      A8K8X0

    2. XM_054373254.1 → XP_054229229.1  N-alpha-acetyltransferase 25, NatB auxiliary subunit isoform X1

      UniProtKB/TrEMBL
      A8K8X0

    RNA

    1. XR_008488680.1 RNA Sequence

    2. XR_008488678.1 RNA Sequence

    3. XR_008488679.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14CX7.1 GenPept UniProtKB/Swiss-Prot:Q14CX7

    Gene LinkOut

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

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