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

Gene ID: 80018, updated on 7-Apr-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
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Genomic context

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Location:
12q24.13
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (112026689..112108783, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (112003594..112085687, complement)
105.20220307 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: 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. 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. 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
  3. 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
  4. 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
  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 (42) 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)

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

Clone Names

  • FLJ13089, DKFZp667K2112

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in N-terminal peptidyl-methionine acetylation 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_2023_10

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

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

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

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

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