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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NAA30 Gene

protein-coding   GIFtS: 46
GCID: GC14P057857

N(Alpha)-Acetyltransferase 30, NatC Catalytic Subunit

(Previous names: chromosome 14 open reading frame 35, N-acetyltransferase...)
(Previous symbols: C14orf35, NAT12)
  Search for NAA30
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
N(Alpha)-Acetyltransferase 30, NatC Catalytic Subunit1 2     N-Acetyltransferase MAK3 Homolog2 3
C14orf351 2 3     Chromosome 14 Open Reading Frame 351
NAT121 2 3     Mak3p2
N-Acetyltransferase 12 (GCN5-Related, Putative)1 2     N-Alpha-Acetyltransferase 302
N-Acetyltransferase 121 3     N-Alpha-Acetyltransferase 30, NatC Catalytic Subunit2
NatC Catalytic Subunit2 3     Putative N-Acetyltransferase2
MAK32 3     EC 2.3.1.883

External Ids:    HGNC: 198441   Entrez Gene: 1228302   Ensembl: ENSG000001399777   UniProtKB: Q147X33   

Export aliases for NAA30 gene to outside databases

Previous GC identifer: GC14P038022


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for NAA30 Gene: 
NAA30 (N(alpha)-acetyltransferase 30, NatC catalytic subunit) is a protein-coding gene. Among its related super-pathways are Biological oxidations. GO annotations related to this gene include peptide alpha-N-acetyltransferase activity.

UniProtKB/Swiss-Prot: NAA30_HUMAN, Q147X3
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NAA30
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNAA30 promoter sequence
   Search SABiosciences Chromatin IP Primers for NAA30

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NAA30


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q22.3   Ensembl cytogenetic band:  14q22.3   HGNC cytogenetic band: 14q22.2

NAA30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAA30 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P057857:  view genomic region     (about GC identifiers)

Start:
57,857,262 bp from pter      End:
57,882,635 bp from pter
Size:
25,374 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NAA30_HUMAN, Q147X3 (See protein sequence)
Recommended Name: N-alpha-acetyltransferase 30  
Size: 362 amino acids; 39320 Da
Subunit: Component of the N-terminal acetyltransferase C (NatC) complex, which is composed of NAA35, LSMD1 and
NAA30
Subcellular location: Cytoplasm
Secondary accessions: Q0IIN2
Alternative splicing: 2 isoforms:  Q147X3-1   Q147X3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NAA30: NX_Q147X3

Explore proteomics data for NAA30 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q147X3

  • NAA30 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NAA30 Protein Expression
    REFSEQ proteins: NP_001011713.2  
    ENSEMBL proteins: 
     ENSP00000450939   ENSP00000452521   ENSP00000451255   ENSP00000298406  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    NAA30 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    NAA: N(alpha)-acetyltransferase subunits

    2 InterPro protein domains:
     IPR000182 GNAT_dom
     IPR016181 Acyl_CoA_acyltransferase

    Graphical View of Domain Structure for InterPro Entry Q147X3

    ProtoNet protein and cluster: Q147X3

    UniProtKB/Swiss-Prot: NAA30_HUMAN, Q147X3
    Similarity: Belongs to the acetyltransferase family. MAK3 subfamily
    Similarity: Contains 1 N-acetyltransferase domain


    NAA30 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NAA30_HUMAN, Q147X3
    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
    Catalytic activity: Acetyl-CoA + peptide = N(alpha)-acetylpeptide + CoA

         Enzyme Number (IUBMB): EC 2.3.1.881

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004596peptide alpha-N-acetyltransferase activity IEA--
    GO:0008080N-acetyltransferase activity ----
    GO:0016747transferase activity, transferring acyl groups other than amino-acyl groups ----
         
    NAA30 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Naa30 (no phenotypes)

    NAA30 for phenotypes           About GeneDecksing

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidNAA30 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NAA30 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Biological oxidations
    metapathway biotransformation0.41


    1 BioSystems Pathway for NAA30
        metapathway biotransformation


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NAA30

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for NAA30 (ENSP000002984064) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPS3ENSP000002785724STRING: ENSP00000278572
    VPS35ENSP000002991384STRING: ENSP00000299138
    ARCN1ENSP000002640284STRING: ENSP00000264028
    RPL3ENSP000003460014STRING: ENSP00000346001
    XRN1ENSP000002649514STRING: ENSP00000264951
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NAA30

    Search CenterWatch for drugs/clinical trials and news about NAA30

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NAA30 gene: 
    NM_001011713.2  

    Unigene Cluster for NAA30:

    N(alpha)-acetyltransferase 30, NatC catalytic subunit
    Hs.165465  [show with all ESTs]
    Unigene Representative Sequence: NM_001011713
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555166 ENST00000556492(uc001xcx.4 uc010trk.2 uc010aow.3)
    ENST00000554703 ENST00000298406
    miRNA
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    hsa-miR-4291 hsa-miR-4307 hsa-miR-607 hsa-let-7d hsa-miR-106a hsa-miR-301a hsa-miR-519a hsa-let-7g
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK024885.1 AK025749.1 AK092674.1 AK296372.1 AK304257.1 AK307348.1 BC048983.1 BC118589.1 
    BC122557.1 BX648700.1 

    7 DOTS entries:

    DT.415321  DT.441829  DT.102824364  DT.100754625  DT.95106614  DT.97823552  DT.120753996 

    24/156 AceView cDNA sequences (see all 156):

    AI803224 CA437004 AI753449 BF061915 BI964191 H67235 BQ959365 BU181327 
    AA435565 W60557 CA941313 BM313443 AI452950 AA541417 R42930 BQ186228 
    BF056265 BQ938170 BE327045 BM873588 H24244 BF593208 BM704461 AI687432 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NAA30    About this scheme

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


    ECgene alternative splicing isoforms for NAA30

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NAA30 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATCACTAA
    NAA30 Expression
    About this image


    See NAA30 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NAA30

    SOURCE GeneReport for Unigene cluster: Hs.165465
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for NAA30 gene from 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Naa301 , 5 N(alpha)-acetyltransferase 30, NatC catalytic subunit1, 5 89.23(n)1
    88.2(a)1
      14 (25.42 cM)5
    706461  NM_001081430.11  NP_001074899.11 
     491722265 
    chicken
    (Gallus gallus)
    Aves NAA301 N(alpha)-acetyltransferase 30, NatC catalytic subunit 79.66(n)
    80.51(a)
      423547  XM_421440.3  XP_421440.3 
    lizard
    (Anolis carolinensis)
    Reptilia NAA306
    Uncharacterized protein
    59(a)
    1 ↔ 1
    GL343325.1(829340-853209)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.102902 Xenopus laevis transcribed sequence with weak similarity more 86.88(n)    CA973347.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.195572 Transcribed sequence with weak similarity to protein more 77.5(n)    AL911505.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG323196
    CG114126
    --
    43(a)
    33(a)
    possible ortholog
    1 ↔ 1
    3L(1470850-1472060)
    X(1236118-1238803)
    worm
    (Caenorhabditis elegans)
    Secernentea B0238.106
    Protein B0238.10
    38(a)
    1 ↔ 1
    V(5274074-5275562)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MAK3(YPR051W)4
    MAK31
    Catalytic subunit of N-terminal acetyltransferase of more4
    Mak3p1
    58.33(n)1
    53.57(a)1
      16(664960-665490)4
    8561631, 4  NP_015376.11, 4 


    ENSEMBL Gene Tree for NAA30 (if available)
    TreeFam Gene Tree for NAA30 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NAA30 gene
    1 SIMAP similar gene for NAA30 using alignment to 4 protein entries:     NAA30_HUMAN (see all proteins):
    NAA10

    NAA30 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/381 SNPs in NAA30 are shown (see all 381)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1887706741,2
    --57855305(+) TTGTTC/TTGTGC 1 -- us2k10--------
    rs1470849011,2
    --57855346(+) TACTTA/GTACAT 1 -- us2k10--------
    rs1932838451,2
    --57855425(+) TCTGAA/GAATGG 1 -- us2k10--------
    rs1155434291,2
    F--57855439(+) CAGCAA/GTATTT 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1380428421,2
    C--57855507(+) TCCCCC/TCCTGT 1 -- us2k10--------
    rs1835842171,2
    --57855589(+) GTTTCC/TTTTTG 1 -- us2k10--------
    rs1179835561,2
    C,F--57855594(+) TTTTTG/CATGAG 1 -- us2k11Minor allele frequency- C:0.04EA 120
    rs80046271,2
    C,A--57855731(+) taccaT/Cgcccg 1 -- us2k17Minor allele frequency- C:0.00NA CSA 12
    rs1867111681,2
    --57855823(+) CTCCCA/GCCTGG 1 -- us2k10--------
    rs1471552851,2
    --57856023(+) GTCTAC/TATGGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NAA30 (57857262 - 57882635 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NAA30:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2664347CNV Deletion23128226
    nsv832806CNV Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NAA30 for disorders           About MalaCards
    1 disease from the University of Copenhagen DISEASES database for NAA30:
    Eastern equine encephalitis

    NAA30 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NAA30

    Export disorders for NAA30 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NAA30 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with NAA30)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A synopsis of eukaryotic Nalpha-terminal acetyltransferases: nomenclature, subunits and substrates. (PubMed id 19660095)1, 2, 3 Polevoda B.... Sherman F. (2009)
    2. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    3. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    4. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    5. Knockdown of human N alpha-terminal acetyltransferase complex C leads to p53-dependent apoptosis and aberrant human Arl8b localization. (PubMed id 19398576)2 Starheim K.K.... Arnesen T. (2009)
    6. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)
    7. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 122830 HGNC: 19844 AceView: C14orf35 Ensembl:ENSG00000139977 euGenes: HUgn122830
    ECgene: NAA30 H-InvDB: NAA30

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NAA30 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NAA30 gene:
    Search GeneIP for patents involving NAA30

    GeneCards and IP:
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