NAA30 N-alpha-acetyltransferase 30, NatC catalytic subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: NAA30provided by HGNC
Official Full Name: N-alpha-acetyltransferase 30, NatC catalytic subunitprovided by HGNC
Primary source: HGNC:HGNC:19844
See related: Ensembl:ENSG00000139977 MIM:617989; AllianceGenome:HGNC:19844
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: MAK3; Mak3p; NAT12; NAT12P; C14orf35
Summary: Enables peptide alpha-N-acetyltransferase activity. Involved in protein stabilization. Located in cytosol and nucleus. Part of NatC complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 11.4), brain (RPKM 9.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q22.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (57390586..57415906)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (51597048..51622359)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (57857304..57882624)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ARFRP1 shifted from a predominantly cis-Golgi and endosome-to-trans-Golgi network localization to localizing both Golgi and non-Golgi vesicular structures in hNaa30-depleted cells.
Title: Depletion of the human N-terminal acetyltransferase hNaa30 disrupts Golgi integrity and ARFRP1 localization.
Overexpression of full-length Naa30 increased cell viability.
Title: Identification of an alternatively spliced nuclear isoform of human N-terminal acetyltransferase Naa30.
Data show that the human NatC complex Nt-acetylates a broad range of cellular proteins, and that depletion of the catalytic subunit Naa30 affects mitochondrial morphology and function.
Title: A Role for Human N-alpha Acetyltransferase 30 (Naa30) in Maintaining Mitochondrial Integrity.
NAT12/NAA30 plays an important role in growth and survival of GICs possibly by regulating hypoxia response (HIF1a), levels of p-MTOR (Ser2448) and the p53 pathway.
Title: Knockdown of NAT12/NAA30 reduces tumorigenic features of glioblastoma-initiating cells.
Human Naa30 (MAK3) is the catalytic subunit of the human NatC N-terminal acetyltransferase complex. NatC acetylates hydrophobic Met-starting N-termini, and NatC knockdown induces p53-dependent apoptosis.
Title: Knockdown of human N alpha-terminal acetyltransferase complex C leads to p53-dependent apoptosis and aberrant human Arl8b localization.

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 Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35536 (e-PCR)
- UniSTS:56363

NoName (e-PCR)
- UniSTS:236958

G20721 (e-PCR)
- UniSTS:39625

A006D22 (e-PCR)
- UniSTS:39626

WI-13591 (e-PCR)
- UniSTS:82169

G30954 (e-PCR)
- UniSTS:13050

D14S645E (e-PCR)
- UniSTS:151547

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables peptide alpha-N-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptide alpha-N-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide-methionine-alpha-N-acetyltransferase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in N-terminal peptidyl-methionine acetylation	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of NatC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NatC complex	IDA Inferred from Direct Assay more info	PubMed
part_of NatC complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: N-alpha-acetyltransferase 30

Names: N-acetyltransferase 12 (GCN5-related, putative); N-acetyltransferase MAK3 homolog; natC catalytic subunit; putative N-acetyltransferase

NP_001011713.2

EC 2.3.1.256

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)

NM_001011713.3 → NP_001011713.2 N-alpha-acetyltransferase 30

See identical proteins and their annotated locations for NP_001011713.2

Status: VALIDATED

Source sequence(s)

AK092674, AL355834, BC048983, BC118589

Consensus CDS

CCDS32088.1

UniProtKB/Swiss-Prot

Q0IIN2, Q147X3

UniProtKB/TrEMBL

B3KS28

Related

ENSP00000452521.1, ENST00000556492.6

Conserved Domains (1) summary

COG0456
Location:209 → 362

RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]