NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: NAA15provided by HGNC
Official Full Name: N-alpha-acetyltransferase 15, NatA auxiliary subunitprovided by HGNC
Primary source: HGNC:HGNC:30782
See related: Ensembl:ENSG00000164134 MIM:608000; AllianceGenome:HGNC:30782
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: Ga19; NATH; TBDN; MRD50; NARG1; NAT1P; TBDN100
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 the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017]
Expression: Ubiquitous expression in testis (RPKM 10.4), lymph node (RPKM 9.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q31.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (139301505..139391384)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (142621100..142711046)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (140222659..140312538)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Title: Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants.
Title: Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants.
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.
Title: Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.
Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.
Title: Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.
Structure and mechanism of acetylation by the N-terminal dual enzyme NatA/Naa50 complex has been reported.
Title: Structure and Mechanism of Acetylation by the N-Terminal Dual Enzyme NatA/Naa50 Complex.
Results provide evidence that Naa15 metazoan-specific domain contributes to N-terminal acetyltransferases A activity and stability.
Title: Structure of Human NatA and Its Regulation by the Huntingtin Interacting Protein HYPK.
individuals with copy-number variant (CNV) deletions involving NAA15 and surrounding genes can present with mild intellectual disability, mild dysmorphic features, motor delays, and decreased growth.
Title: Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
In combination with acetylation assays, the HypK N-terminal region is identified as a negative regulator of the NatA acetylation activity
Title: Structural basis of HypK regulating N-terminal acetylation by the NatA complex.
Authors highlight NAA15 as a novel candidate ID gene based on the vital role of NAA15 in the generation and differentiation of neurons in neonatal brain.
Title: Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Human Naa15 (NATH) and Naa10 (ARD1) form a stable NatA complex which associates with ribosomes and performs co-translational N-terminal acetylation; Naa15 (NATH) and Naa10 (ARD1) are cleaved during apoptosis resulting in decreased acetyltransferase activity
Title: Identification and characterization of the human ARD1-NATH protein acetyltransferase complex.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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

Associated conditions

Description	Tests
Intellectual disability, autosomal dominant 50 MedGen: C4540470 OMIM: 617787 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-04-13) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-13) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_15315-15316:1013436374:1 (e-PCR)
- UniSTS:267809

NARG1 (e-PCR)
- UniSTS:503367

SHGC-67742 (e-PCR)
- UniSTS:48218

SHGC-82119 (e-PCR)
- UniSTS:103041

D4S2568E (e-PCR)
- UniSTS:30096

TBDN100__5224 (e-PCR)
- UniSTS:464595

D4S2830 (e-PCR)
- UniSTS:26620

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables acetyltransferase activator activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ribosome binding	IDA Inferred from Direct Assay more info	PubMed
enables ribosome binding	IDA Inferred from Direct Assay 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 angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IMP Inferred from Mutant Phenotype 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
part_of NatA 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 cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: N-alpha-acetyltransferase 15, NatA auxiliary subunit

Names: N-terminal acetyltransferase; NMDA receptor regulated 1; NMDA receptor-regulated protein 1; gastric cancer antigen Ga19; protein tubedown-1; transcriptional coactivator tubedown-100; tubedown-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

NG_053037.1 RefSeqGene

Range

5039..94918

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001410842.1 → NP_001397771.1 N-alpha-acetyltransferase 15, NatA auxiliary subunit isoform 2

Status: REVIEWED

Source sequence(s)

AC097376

Consensus CDS

CCDS93635.1

UniProtKB/TrEMBL

A0A0B4J1W3

Related

ENSP00000381920.1, ENST00000398947.1
NM_057175.5 → NP_476516.1 N-alpha-acetyltransferase 15, NatA auxiliary subunit isoform 1

See identical proteins and their annotated locations for NP_476516.1

Status: REVIEWED

Source sequence(s)

AC097376, AY039242, BX499137

Consensus CDS

CCDS43270.1

UniProtKB/Swiss-Prot

D3DNY6, Q52LG9, Q8IWH4, Q8NEV2, Q9BXJ9, Q9H8P6

UniProtKB/TrEMBL

B2RBE5

Related

ENSP00000296543.4, ENST00000296543.10

Conserved Domains (3) summary

TIGR02917
Location:90 → 271

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:82 → 108

TPR; TPR repeat [structural motif]

pfam12569
Location:187 → 698

NARP1; NMDA receptor-regulated protein 1