NAA50 N-alpha-acetyltransferase 50, NatE catalytic subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: NAA50provided by HGNC
Official Full Name: N-alpha-acetyltransferase 50, NatE catalytic subunitprovided by HGNC
Primary source: HGNC:HGNC:29533
See related: Ensembl:ENSG00000121579 MIM:610834; AllianceGenome:HGNC:29533
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: SAN; MAK3; NAT5; NAT13; NAT5P; NAT13P; hNaa50p
Summary: Enables H4 histone acetyltransferase activity; peptide alpha-N-acetyltransferase activity; and peptidyl-lysine acetyltransferase activity. Involved in N-terminal protein amino acid acetylation; establishment of mitotic sister chromatid cohesion; and mitotic sister chromatid cohesion, centromeric. Located in cytosol and nucleus. Part of NatA complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in esophagus (RPKM 21.2), fat (RPKM 20.2) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3q13.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (113716458..113746249, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (116437658..116467450, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (113435305..113465096, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Because Naa10 is reported to acetylate all amino termini that are devoid of methionine and Naa50 acetylates all other peptides that are followed by methionine
Title: Human Naa50 Protein Displays Broad Substrate Specificity for Amino-terminal Acetylation: DETAILED STRUCTURAL AND BIOCHEMICAL ANALYSIS USING TETRAPEPTIDE LIBRARY.
co-depletion of NatA, a heterodimeric NAT complex that physically interacts with Naa50, rescues the sister-chromatid cohesion defects and the resulting mitotic arrest caused by Naa50 depletion, indicating that NatA and Naa50 play antagonistic roles in cohesion.
Title: Opposing Functions of the N-terminal Acetyltransferases Naa50 and NatA in Sister-chromatid Cohesion.
The study quantitatively compared the Nt-acetylomes of wild-type yeast S. cerevisiae expressing the endogenous yeast Naa50 (yNaa50), the congenic strain lacking yNaa50, and an otherwise identical strain expressing human Naa50 (hNaa50).
Title: N-terminal acetylome analysis reveals the specificity of Naa50 (Nat5) and suggests a kinetic competition between N-terminal acetyltransferases and methionine aminopeptidases.
The first description of the human homologue of Nat5p/San, hNAT5, the third component of the human NatA N-alpha-acetyltransferase complex
Title: Cloning and characterization of hNAT5/hSAN: an evolutionarily conserved component of the NatA protein N-alpha-acetyltransferase complex.
Nat5 displays both protein N alpha- and N epsilon-acetyltransferase activity.
Title: Human Naa50p (Nat5/San) displays both protein N alpha- and N epsilon-acetyltransferase activity.
Development of the first N-terminal acetyltransferase (NAT) inhibitors, including a specific Naa50 inhibitor.
Title: Design, synthesis, and kinetic characterization of protein N-terminal acetyltransferase inhibitors.
Human protein N-terminal acetyltransferase hNaa50p (hNAT5/hSAN) follows ordered sequential catalytic mechanism: combined kinetic and NMR study.
Title: Human protein N-terminal acetyltransferase hNaa50p (hNAT5/hSAN) follows ordered sequential catalytic mechanism: combined kinetic and NMR study.
Naa50p can accommodate only an alpha-amino substrate and not a side chain lysine substrate that is acetylated by lysine acetyltransferase enzymes such as Gcn5.
Title: Structure of a ternary Naa50p (NAT5/SAN) N-terminal acetyltransferase complex reveals the molecular basis for substrate-specific acetylation.
Data show that with MAK3 knockdown, p53 is stabilized and phosphorylated and there is a significant transcriptional activation of proapoptotic genes downstream of p53, and that localization of Arl8b is altered, suggesting that Arl8b is a Mak3 substrate.
Title: Knockdown of human N alpha-terminal acetyltransferase complex C leads to p53-dependent apoptosis and aberrant human Arl8b localization.
May be specifically required for the maintenance of centromeric cohesion in mitosis.
Title: The acetyltransferase activity of San stabilizes the mitotic cohesin at the centromeres in a shugoshin-independent manner.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

STS-N20593 (e-PCR)
- UniSTS:9216

RH67016 (e-PCR)
- UniSTS:86282

D3S2891E (e-PCR)
- UniSTS:3856

PMC156606P1 (e-PCR)
- UniSTS:271408

SHGC-77212 (e-PCR)
- UniSTS:53813

D3S4251 (e-PCR)
- UniSTS:11612

RH35991 (e-PCR)
- UniSTS:51299

RH102322 (e-PCR)
- UniSTS:96656

WI-14701 (e-PCR)
- UniSTS:20626

G34955 (e-PCR)
- UniSTS:117665

WI-18032 (e-PCR)
- UniSTS:15571

DXS6978E (e-PCR)
- UniSTS:151293

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone H4 acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide alpha-N-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide alpha-N-acetyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables peptidyl-lysine 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 N-terminal protein amino acid acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in N-terminal protein amino acid acetylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in N-terminal protein amino acid acetylation	TAS Traceable Author Statement more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in establishment of mitotic sister chromatid cohesion	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic sister chromatid cohesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic sister chromatid cohesion, centromeric	IDA Inferred from Direct Assay more info	PubMed

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
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	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

Go to the top of the page Help

Preferred Names: N-alpha-acetyltransferase 50

Names: N-acetyltransferase 13 (GCN5-related); N-acetyltransferase 5; N-acetyltransferase san homolog; N-epsilon-acetyltransferase 50; natE catalytic subunit

NP_001295374.1

EC 2.3.1.258

NP_079422.1

EC 2.3.1.258

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001308445.2 → NP_001295374.1 N-alpha-acetyltransferase 50 isoform 2

See identical proteins and their annotated locations for NP_001295374.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.

Source sequence(s)

AC108693, AL601126, BX102492

Consensus CDS

CCDS77791.1

UniProtKB/TrEMBL

E7EQ69

Related

ENSP00000417837.1, ENST00000493900.5

Conserved Domains (1) summary

COG0456
Location:9 → 144

RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]
NM_025146.4 → NP_079422.1 N-alpha-acetyltransferase 50 isoform 1

See identical proteins and their annotated locations for NP_079422.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC108693, AW954963, BC012731, BM831426, BX102492, DA408894, DA599265, DB096143, DB198553, H15889, H39948, HX784836

Consensus CDS

CCDS2975.1

UniProtKB/Swiss-Prot

D3DN74, Q68DQ1, Q9GZZ1

Related

ENSP00000240922.2, ENST00000240922.8

Conserved Domains (1) summary

COG0456
Location:10 → 145

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