Aliases for NAA30 Gene

Aliases for NAA30 Gene

  • N-Alpha-Acetyltransferase 30, NatC Catalytic Subunit 2 3 5
  • MAK3 2 3 4
  • N-Acetyltransferase 12 (GCN5-Related, Putative) 2 3
  • N-Acetyltransferase MAK3 Homolog 3 4
  • N-Alpha-Acetyltransferase 30 3 4
  • N-Acetyltransferase 12 2 4
  • NatC Catalytic Subunit 3 4
  • C14orf35 3 4
  • Mak3p 2 3
  • NAT12 3 4
  • N(Alpha)-Acetyltransferase 30, NatC Catalytic Subunit 2
  • Chromosome 14 Open Reading Frame 35 2
  • Putative N-Acetyltransferase 3
  • EC 2.3.1.256 4
  • FLJ35355 2
  • NAT12P 3
  • NAA30 5

External Ids for NAA30 Gene

Previous HGNC Symbols for NAA30 Gene

  • C14orf35
  • NAT12

Previous GeneCards Identifiers for NAA30 Gene

  • GC14P057857
  • GC14P038022

Summaries for NAA30 Gene

GeneCards Summary for NAA30 Gene

NAA30 (N-Alpha-Acetyltransferase 30, NatC Catalytic Subunit) is a Protein Coding gene. Diseases associated with NAA30 include Neurogenic Arthropathy and Ochronosis. Among its related pathways are Retrograde transport at the Trans-Golgi-Network and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups and peptide alpha-N-acetyltransferase activity. An important paralog of this gene is NAA11.

UniProtKB/Swiss-Prot Summary for NAA30 Gene

  • Catalytic subunit of the N-terminal acetyltransferase C (NatC) complex. Catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Leu-Ala and Met-Leu-Gly. Necessary for the lysosomal localization and function of ARL8B sugeesting that ARL8B is a NatC substrate.

Additional gene information for NAA30 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NAA30 Gene

Genomics for NAA30 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NAA30 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J057389 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 618.1 +0.7 657 5.2 PRDM10 ZNF629 POLR2A ZNF692 JUND FOXA1 LARP7 PRDM1 ZIC2 RBFOX2 NAA30 ENSG00000258682 ENSG00000258428 PSMA3-AS1 HMGB1P14 lnc-NAA30-3 CCDC198
GH14J057264 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 17.8 -122.6 -122570 6.9 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 IKZF1 NFKBIZ ZNF692 RCOR2 AP5M1 EXOC5 HSALNG0101564 NAA30 lnc-CCDC198-3 OTX2
GH14J057259 Enhancer 0.8 FANTOM5 Ensembl 9.9 -131.0 -131001 0.9 PRDM1 FOSL1 NCOR1 ZNF18 DPF2 ATF3 PRDM10 TCF12 ZEB2 FOS NAA30 AP5M1 EXOC5 lnc-CCDC198-3 OTX2
GH14J057361 Enhancer 0.6 Ensembl ENCODE 11.1 -27.2 -27243 5 MAFF NR2F2 MAFK JUN NAA30 AP5M1 lnc-EXOC5-2 ENSG00000259008
GH14J057261 Enhancer 0.6 Ensembl 9.7 -128.6 -128643 1.4 KDM1A SP1 FOXA2 YY1 GABPA JUND BCOR ADNP HNF4A RXRA NAA30 AP5M1 EXOC5 lnc-CCDC198-3 OTX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NAA30 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NAA30

Genomic Locations for NAA30 Gene

Genomic Locations for NAA30 Gene
chr14:57,390,544-57,415,906
(GRCh38/hg38)
Size:
25,363 bases
Orientation:
Plus strand
chr14:57,857,262-57,882,635
(GRCh37/hg19)
Size:
25,374 bases
Orientation:
Plus strand

Genomic View for NAA30 Gene

Genes around NAA30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAA30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAA30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAA30 Gene

Proteins for NAA30 Gene

  • Protein details for NAA30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q147X3-NAA30_HUMAN
    Recommended name:
    N-alpha-acetyltransferase 30
    Protein Accession:
    Q147X3
    Secondary Accessions:
    • Q0IIN2

    Protein attributes for NAA30 Gene

    Size:
    362 amino acids
    Molecular mass:
    39320 Da
    Quaternary structure:
    • Component of the N-terminal acetyltransferase C (NatC) complex, which is composed of NAA35, NAA38 and NAA30.

    Alternative splice isoforms for NAA30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAA30 Gene

Post-translational modifications for NAA30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NAA30 Gene

No data available for DME Specific Peptides for NAA30 Gene

Domains & Families for NAA30 Gene

Gene Families for NAA30 Gene

Protein Domains for NAA30 Gene

Suggested Antigen Peptide Sequences for NAA30 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50785 (B4DK34_HUMAN)
  • N-acetyltransferase MAK3 homolog (NAA30_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q147X3

UniProtKB/Swiss-Prot:

NAA30_HUMAN :
  • Belongs to the acetyltransferase family. MAK3 subfamily.
Family:
  • Belongs to the acetyltransferase family. MAK3 subfamily.
genes like me logo Genes that share domains with NAA30: view

Function for NAA30 Gene

Molecular function for NAA30 Gene

UniProtKB/Swiss-Prot Function:
Catalytic subunit of the N-terminal acetyltransferase C (NatC) complex. Catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Leu-Ala and Met-Leu-Gly. Necessary for the lysosomal localization and function of ARL8B sugeesting that ARL8B is a NatC substrate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + N-terminal L-methionyl-L-leucyl-[protein] = CoA + H(+) + N-terminal N(alpha)-acetyl-L-methionyl-L-leucyl-[protein]; Xref=Rhea:RHEA:50520, Rhea:RHEA-COMP:12711, Rhea:RHEA-COMP:12712, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:133377, ChEBI:CHEBI:133378; EC=2.3.1.256; Evidence={ECO:0000269|PubMed:19398576};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + N-terminal L-methionyl-L-isoleucyl-[protein] = CoA + H(+) + N-terminal N(alpha)-acetyl-L-methionyl-L-isoleucyl-[protein]; Xref=Rhea:RHEA:50524, Rhea:RHEA-COMP:12713, Rhea:RHEA-COMP:12714, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:133379, ChEBI:CHEBI:133380; EC=2.3.1.256; Evidence={ECO:0000269|PubMed:19398576};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + N-terminal L-methionyl-L-phenylalanyl-[protein] = CoA + H(+) + N-terminal N(alpha)-acetyl-L-methionyl-L-phenylalanyl-[protein]; Xref=Rhea:RHEA:50528, Rhea:RHEA-COMP:12715, Rhea:RHEA-COMP:12716, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:133382, ChEBI:CHEBI:133383; EC=2.3.1.256; Evidence={ECO:0000269|PubMed:19398576};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + N-terminal L-methionyl-L-tryptophyl-[protein] = CoA + H(+) + N-terminal N(alpha)-acetyl-L-methionyl-L-tryptophyl-[protein]; Xref=Rhea:RHEA:50560, Rhea:RHEA-COMP:12724, Rhea:RHEA-COMP:12725, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:133386, ChEBI:CHEBI:133387; EC=2.3.1.256; Evidence={ECO:0000269|PubMed:19398576};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + N-terminal L-methionyl-L-tyrosyl-[protein] = CoA + H(+) + N-terminal N(alpha)-acetyl-L-methionyl-L-tyrosyl-[protein]; Xref=Rhea:RHEA:50532, Rhea:RHEA-COMP:12717, Rhea:RHEA-COMP:12718, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:133384, ChEBI:CHEBI:133385; EC=2.3.1.256; Evidence={ECO:0000269|PubMed:19398576};.

Enzyme Numbers (IUBMB) for NAA30 Gene

Phenotypes From GWAS Catalog for NAA30 Gene

Gene Ontology (GO) - Molecular Function for NAA30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004596 peptide alpha-N-acetyltransferase activity IBA,IDA 19398576
GO:0005515 protein binding IPI 19398576
GO:0008080 N-acetyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with NAA30: view
genes like me logo Genes that share phenotypes with NAA30: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NAA30

CRISPR Products

miRNA for NAA30 Gene

miRTarBase miRNAs that target NAA30

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAA30

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NAA30 Gene

Localization for NAA30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAA30 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAA30 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NAA30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 25732826
GO:0005737 cytoplasm IEA,IDA 19398576
GO:0005829 cytosol IDA --
GO:0005844 colocalizes_with polysome IDA 19398576
GO:0031417 NatC complex IBA,IDA 19398576
genes like me logo Genes that share ontologies with NAA30: view

Pathways & Interactions for NAA30 Gene

genes like me logo Genes that share pathways with NAA30: view

Gene Ontology (GO) - Biological Process for NAA30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017196 N-terminal peptidyl-methionine acetylation IDA 19398576
genes like me logo Genes that share ontologies with NAA30: view

No data available for SIGNOR curated interactions for NAA30 Gene

Drugs & Compounds for NAA30 Gene

(1) Drugs for NAA30 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coenzyme A Investigational Nutra 0

(1) Additional Compounds for NAA30 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
genes like me logo Genes that share compounds with NAA30: view

Transcripts for NAA30 Gene

mRNA/cDNA for NAA30 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAA30

Alternative Splicing Database (ASD) splice patterns (SP) for NAA30 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c
SP1:
SP2: - - -
SP3: -
SP4: - - - -

Relevant External Links for NAA30 Gene

GeneLoc Exon Structure for
NAA30

Expression for NAA30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NAA30 Gene

Protein differential expression in normal tissues from HIPED for NAA30 Gene

This gene is overexpressed in Breast (19.2) and Fetal Brain (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NAA30 Gene



Protein tissue co-expression partners for NAA30 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NAA30

SOURCE GeneReport for Unigene cluster for NAA30 Gene:

Hs.165465

Evidence on tissue expression from TISSUES for NAA30 Gene

  • Liver(4.3)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with NAA30: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAA30 Gene

Orthologs for NAA30 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NAA30 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NAA30 30 31
  • 99.82 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NAA30 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia NAA30 30 31
  • 94.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NAA30 30 31
  • 93.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Naa30 30
  • 88.89 (n)
Mouse
(Mus musculus)
Mammalia Naa30 30 17 31
  • 87.23 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NAA30 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NAA30 30 31
  • 78.92 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NAA30 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia naa30 30
  • 77.3 (n)
Str.1080 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10290 30
Zebrafish
(Danio rerio)
Actinopterygii naa30 31
  • 50 (a)
OneToOne
Dr.19557 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG32319 31
  • 43 (a)
OneToMany
CG11412 31
  • 34 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea B0238.10 31
  • 38 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAK3 31 33
  • 43 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4735 31
  • 25 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.532 30
Species where no ortholog for NAA30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NAA30 Gene

ENSEMBL:
Gene Tree for NAA30 (if available)
TreeFam:
Gene Tree for NAA30 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NAA30: view image

Paralogs for NAA30 Gene

Paralogs for NAA30 Gene

(1) SIMAP similar genes for NAA30 Gene using alignment to 4 proteins:

  • NAA30_HUMAN
  • B4DK34_HUMAN
  • G3V3I2_HUMAN
  • J3KNC2_HUMAN
genes like me logo Genes that share paralogs with NAA30: view

Variants for NAA30 Gene

Additional dbSNP identifiers (rs#s) for NAA30 Gene

Structural Variations from Database of Genomic Variants (DGV) for NAA30 Gene

Variant ID Type Subtype PubMed ID
esv2664347 CNV deletion 23128226
esv3634606 CNV loss 21293372
nsv1046422 CNV gain 25217958
nsv832806 CNV loss 17160897

Variation tolerance for NAA30 Gene

Residual Variation Intolerance Score: 40.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.21; 24.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAA30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAA30

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NAA30 Gene

Disorders for NAA30 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NAA30 Gene - From: DISEASES

Disorder Aliases PubMed IDs
neurogenic arthropathy
  • arthropathy associated with neurological disorder
ochronosis
villonodular synovitis
  • pigmented villonodular synovitis
ogden syndrome
  • ogdns
chondrocalcinosis
  • calcium pyrophosphate deposition disease
- elite association - COSMIC cancer census association via MalaCards
Search NAA30 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NAA30

genes like me logo Genes that share disorders with NAA30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NAA30 Gene

Publications for NAA30 Gene

  1. A synopsis of eukaryotic Nalpha-terminal acetyltransferases: nomenclature, subunits and substrates. (PMID: 19660095) Polevoda B … Sherman F (BMC proceedings 2009) 2 3 4
  2. Knockdown of human N alpha-terminal acetyltransferase complex C leads to p53-dependent apoptosis and aberrant human Arl8b localization. (PMID: 19398576) Starheim KK … Arnesen T (Molecular and cellular biology 2009) 2 3 4
  3. An organellar nα-acetyltransferase, naa60, acetylates cytosolic N termini of transmembrane proteins and maintains Golgi integrity. (PMID: 25732826) Aksnes H … Arnesen T (Cell reports 2015) 3 4
  4. Identification of an alternatively spliced nuclear isoform of human N-terminal acetyltransferase Naa30. (PMID: 29247799) Varland S … Arnesen T (Gene 2018) 3
  5. R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein. (PMID: 28561026) Cloutier P … Coulombe B (Nature communications 2017) 3

Products for NAA30 Gene

Sources for NAA30 Gene