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NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit [ Homo sapiens (human) ]

Gene ID: 8260, updated on 19-Sep-2024

Summary

Official Symbol
NAA10provided by HGNC
Official Full Name
N-alpha-acetyltransferase 10, NatA catalytic subunitprovided by HGNC
Primary source
HGNC:HGNC:18704
See related
Ensembl:ENSG00000102030 MIM:300013; AllianceGenome:HGNC:18704
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
MAA; TE2; ARD1; LZMS; NATD; ARD1A; ARD1P; OGDNS; hARD1; DXS707; MCOPS1
Summary
N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Expression
Ubiquitous expression in fat (RPKM 16.8), appendix (RPKM 16.4) and 25 other tissues See more
Orthologs
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Genomic context

See NAA10 in Genome Data Viewer
Location:
Xq28
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153929225..153935037, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152202942..152208754, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153194678..153200490, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153174367-153175060 Neighboring gene arginine vasopressin receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153175061-153175753 Neighboring gene Rho GTPase activating protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153186395-153186896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153188877-153189377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153200750-153201255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153201256-153201760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153204898-153205662 Neighboring gene renin binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153210247-153211010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153213176-153213715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30044 Neighboring gene host cell factor C1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153231131-153231789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153231790-153232449 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153234675-153234853 Neighboring gene HCFC1 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Microphthalmia, syndromic 1
MedGen: C0796016 OMIM: 309800 GeneReviews: Not available
Compare labs
Ogden syndrome
MedGen: C3275447 OMIM: 300855 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2022-08-09)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2022-08-09)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ78896, MGC71248

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of NatA complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of NatA complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of NatA complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in membrane HDA PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
N-alpha-acetyltransferase 10
Names
ARD1 homolog A, N-acetyltransferase
N-acetyltransferase ARD1, human homolog of
N-terminal acetyltransferase complex ARD1 subunit homolog A
arrest defective protein 1
microphthalmia or anophthalmia and associated anomalies
natA catalytic subunit Naa10
NP_001243048.1
NP_001243049.1
NP_003482.1

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.

Genomic

  1. NG_031987.2 RefSeqGene

    Range
    5000..10812
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256119.2NP_001243048.1  N-alpha-acetyltransferase 10 isoform 2

    See identical proteins and their annotated locations for NP_001243048.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AY183135, CA313208, CR979270, U52112
    Consensus CDS
    CCDS59179.1
    UniProtKB/Swiss-Prot
    P41227
    Related
    ENSP00000359026.1, ENST00000370009.5
    Conserved Domains (1) summary
    COG0456
    Location:1134
    RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]
  2. NM_001256120.2NP_001243049.1  N-alpha-acetyltransferase 10 isoform 3

    See identical proteins and their annotated locations for NP_001243049.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AK315997, AY183135, BI192945, CA313208, CR979270, U52112
    UniProtKB/TrEMBL
    B7Z9N2
    Conserved Domains (1) summary
    COG0456
    Location:1143
    RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]
  3. NM_003491.4NP_003482.1  N-alpha-acetyltransferase 10 isoform 1

    See identical proteins and their annotated locations for NP_003482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC000308, CA313208, CR979270, U52112
    Consensus CDS
    CCDS14737.1
    UniProtKB/Swiss-Prot
    A6NM98, P41227
    Related
    ENSP00000417763.1, ENST00000464845.6
    Conserved Domains (1) summary
    COG0456
    Location:1149
    RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    153929225..153935037 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    152202942..152208754 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)