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Aliases for NAA10 Gene

Aliases for NAA10 Gene

  • N(Alpha)-Acetyltransferase 10, NatA Catalytic Subunit 2 3 5
  • N-Terminal Acetyltransferase Complex ARD1 Subunit Homolog A 3 4
  • NatA Catalytic Subunit Naa10 3 4
  • ARD1A 3 4
  • HARD1 3 4
  • ARD1 3 4
  • TE2 3 4
  • ARD1 Homolog A, N-Acetyltransferase (S. Cerevisiae) 2
  • ARD1 Homolog, N-Acetyltransferase (S. Cerevisiae) 2
  • N-Acetyltransferase ARD1, Human Homolog Of 3
  • ARD1 Homolog A, N-Acetyltransferase 3
  • N-Alpha-Acetyltransferase 10 3
  • EC 2.3.1.255 4
  • MCOPS1 3
  • DXS707 3
  • ARD1P 3
  • OGDNS 3
  • NATD 3

External Ids for NAA10 Gene

Previous HGNC Symbols for NAA10 Gene

  • ARD1
  • ARD1A

Previous GeneCards Identifiers for NAA10 Gene

  • GC0XM153194
  • GC0XM141848

Summaries for NAA10 Gene

Entrez Gene Summary for NAA10 Gene

  • 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 an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

GeneCards Summary for NAA10 Gene

NAA10 (N(Alpha)-Acetyltransferase 10, NatA Catalytic Subunit) is a Protein Coding gene. Diseases associated with NAA10 include Ogden Syndrome and Microphthalmia, Syndromic 1. Among its related pathways are DNA Damage and Hypoxic and oxygen homeostasis regulation of HIF-1-alpha. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups and N-acetyltransferase activity. An important paralog of this gene is NAA11.

UniProtKB/Swiss-Prot for NAA10 Gene

  • Catalytic subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity (PubMed:15496142, PubMed:19826488, PubMed:19420222, PubMed:20145209, PubMed:27708256, PubMed:25489052). Acetylates amino termini that are devoid of initiator methionine (PubMed:19420222). The alpha (N-terminal) acetyltransferase activity may be important for vascular, hematopoietic and neuronal growth and development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting its degradation (PubMed:12464182). Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration (PubMed:19826488). Acetylates, and stabilizes TSC2, thereby repressing mTOR activity and suppressing cancer development (PubMed:20145209). Acetylates HSPA1A and HSPA1B at Lys-77 which enhances its chaperone activity and leads to preferential binding to co-chaperone HOPX (PubMed:27708256). Acts as a negative regulator of sister chromatid cohesion during mitosis (PubMed:27422821).

Gene Wiki entry for NAA10 Gene

Additional gene information for NAA10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAA10 Gene

Genomics for NAA10 Gene

GeneHancer (GH) Regulatory Elements for NAA10 Gene

Promoters and enhancers for NAA10 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
GH0XI153933 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +0.5 455 1.9 HDAC1 RB1 SIN3A ZNF335 GLIS2 ELK1 SMARCA5 SP3 NFYA SMAD5 ARHGAP4 NAA10 TMEM187 RENBP GC0XP153923
GH0XI153884 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE 12.5 +49.1 49118 3 CTCF KLF1 MAX KLF17 ZIC2 RAD21 HIC1 ZFHX2 GATA3 GLIS2 L1CAM RENBP TMEM187 PDZD4 IDH3G SSR4 SRPK3 PLXNB3 ARHGAP4 NAA10
GH0XI153922 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 0.4 +8.4 8408 7.7 HDGF HNRNPUL1 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ARHGAP4 TMEM187 HCFC1 SNORA70 DKC1 SLC10A3 EMD HCFC1-AS1 FLNA GC0XP153923
GH0XI153943 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 0.4 -9.3 -9303 1.2 HDAC1 TFAP4 ZNF146 PKNOX1 USF1 ATF1 NFXL1 CCNT2 GLIS2 POLR2A RENBP SNORA70 HCFC1 SNORA56 PLXNA3 DKC1 NAA10
GH0XI153941 Enhancer 0.8 Ensembl ENCODE 0.4 -6.6 -6635 1.7 SOX5 KLF1 USF1 L3MBTL2 ZFP64 KLF17 GABPA ZNF592 ZNF316 ZNF341 TMEM187 RENBP NAA10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NAA10 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NAA10 Gene

Genomic Locations for NAA10 Gene
chrX:153,929,242-153,935,223
(GRCh38/hg38)
Size:
5,982 bases
Orientation:
Minus strand
chrX:153,194,695-153,200,676
(GRCh37/hg19)

Genomic View for NAA10 Gene

Genes around NAA10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAA10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAA10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAA10 Gene

Proteins for NAA10 Gene

  • Protein details for NAA10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41227-NAA10_HUMAN
    Recommended name:
    N-alpha-acetyltransferase 10
    Protein Accession:
    P41227
    Secondary Accessions:
    • A6NM98

    Protein attributes for NAA10 Gene

    Size:
    235 amino acids
    Molecular mass:
    26459 Da
    Quaternary structure:
    • Component of the N-terminal acetyltransferase A (NatA) complex composed of NAA10 and NAA15 or NAA16 (PubMed:20154145). Interacts with HIF1A (via its ODD domain); the interaction increases HIF1A protein stability during normoxia, an down-regulates it when induced by hypoxia (PubMed:12464182). Interacts with NAA50 and with the ribosome (PubMed:16507339). Binds to MYLK (PubMed:19826488). Associates with HYPK when in complex with NAA15 (PubMed:15496142). Interacts with NAA15 (PubMed:15496142). Interacts with NAA16 (PubMed:19480662). Interacts (via its C-terminal domain) with TSC2, leading to its acetylation (PubMed:20145209). Interacts with NAA16 (PubMed:19480662). Interacts with IKBKB (PubMed:19716809). Interacts with HSPA1A and HSPA1B leading to its acetylation (PubMed:27708256).

    Alternative splice isoforms for NAA10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAA10 Gene

Post-translational modifications for NAA10 Gene

No data available for DME Specific Peptides for NAA10 Gene

Domains & Families for NAA10 Gene

Gene Families for NAA10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for NAA10 Gene

Graphical View of Domain Structure for InterPro Entry

P41227

UniProtKB/Swiss-Prot:

NAA10_HUMAN :
  • Belongs to the acetyltransferase family. ARD1 subfamily.
Family:
  • Belongs to the acetyltransferase family. ARD1 subfamily.
genes like me logo Genes that share domains with NAA10: view

Function for NAA10 Gene

Molecular function for NAA10 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-glycyl-[protein] = an N-terminal-N(alpha)-acetyl-glycyl-[protein] + CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-L-alanyl-[protein] = an N-terminal-N(alpha)-acetyl-L-alanyl-[protein] + CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-L-seryl-[protein] = an N-terminal-N(alpha)-acetyl-L-seryl-[protein] + CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-L-valyl-[protein] = an N-terminal-N(alpha)-acetyl-L-valyl-[protein] + CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-L-cysteinyl-[protein] = an N-terminal-N(alpha)-acetyl-L-cysteinyl-[protein] + CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an N-terminal-L-threonyl-[protein] = an N-terminal-N(alpha)-acetyl-L-threonyl-[protein] + CoA.
UniProtKB/Swiss-Prot Function:
Catalytic subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity (PubMed:15496142, PubMed:19826488, PubMed:19420222, PubMed:20145209, PubMed:27708256, PubMed:25489052). Acetylates amino termini that are devoid of initiator methionine (PubMed:19420222). The alpha (N-terminal) acetyltransferase activity may be important for vascular, hematopoietic and neuronal growth and development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting its degradation (PubMed:12464182). Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration (PubMed:19826488). Acetylates, and stabilizes TSC2, thereby repressing mTOR activity and suppressing cancer development (PubMed:20145209). Acetylates HSPA1A and HSPA1B at Lys-77 which enhances its chaperone activity and leads to preferential binding to co-chaperone HOPX (PubMed:27708256). Acts as a negative regulator of sister chromatid cohesion during mitosis (PubMed:27422821).

Enzyme Numbers (IUBMB) for NAA10 Gene

Phenotypes From GWAS Catalog for NAA10 Gene

Gene Ontology (GO) - Molecular Function for NAA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004596 contributes_to peptide alpha-N-acetyltransferase activity IDA 19480662
GO:0005515 protein binding IPI 15496142
GO:0008080 N-acetyltransferase activity IEA,TAS 7981673
GO:0016407 contributes_to acetyltransferase activity IDA 15496142
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with NAA10: view
genes like me logo Genes that share phenotypes with NAA10: view

Human Phenotype Ontology for NAA10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NAA10 Gene

Localization for NAA10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAA10 Gene

Cytoplasm. Nucleus. Note=Also present in the free cytosolic and cytoskeleton-bound polysomes. {ECO:0000269 PubMed:15496142}.

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 NAA10 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoli (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NAA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005634 nucleus IDA,TAS 15496142
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA,IEA 15496142
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with NAA10: view

Pathways & Interactions for NAA10 Gene

genes like me logo Genes that share pathways with NAA10: view

Pathways by source for NAA10 Gene

2 Cell Signaling Technology pathways for NAA10 Gene
1 BioSystems pathway for NAA10 Gene

Gene Ontology (GO) - Biological Process for NAA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006323 DNA packaging TAS 7981673
GO:0006473 protein acetylation IDA 27708256
GO:0006474 N-terminal protein amino acid acetylation IDA 15496142
GO:0006475 internal protein amino acid acetylation TAS 7981673
GO:0017198 N-terminal peptidyl-serine acetylation IBA --
genes like me logo Genes that share ontologies with NAA10: view

No data available for SIGNOR curated interactions for NAA10 Gene

Drugs & Compounds for NAA10 Gene

(2) Drugs for NAA10 Gene - From: HMDB and Novoseek

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

(1) Additional Compounds for NAA10 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
genes like me logo Genes that share compounds with NAA10: view

Transcripts for NAA10 Gene

Unigene Clusters for NAA10 Gene

N(alpha)-acetyltransferase 10, NatA catalytic subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NAA10 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: - - -
SP6: - - - -
SP7: -
SP8:
SP9: - -
SP10: -

Relevant External Links for NAA10 Gene

GeneLoc Exon Structure for
NAA10
ECgene alternative splicing isoforms for
NAA10

Expression for NAA10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NAA10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NAA10 Gene

This gene is overexpressed in Breast (16.5), Nasal epithelium (7.7), and Bone marrow stromal cell (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NAA10 Gene



Protein tissue co-expression partners for NAA10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NAA10 Gene:

NAA10

SOURCE GeneReport for Unigene cluster for NAA10 Gene:

Hs.433291

mRNA Expression by UniProt/SwissProt for NAA10 Gene:

P41227-NAA10_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for NAA10 Gene

  • Liver(4.4)
  • Lung(4.4)
  • Nervous system(3.6)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NAA10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • vagina
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shoulder
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NAA10: view

Primer Products

No data available for mRNA differential expression in normal tissues for NAA10 Gene

Orthologs for NAA10 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NAA10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAA10 33 34
  • 99.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Naa10 33 16 34
  • 91.85 (n)
cow
(Bos Taurus)
Mammalia NAA10 33 34
  • 91.26 (n)
rat
(Rattus norvegicus)
Mammalia Naa10 33
  • 91.26 (n)
dog
(Canis familiaris)
Mammalia NAA10 33 34
  • 90.96 (n)
oppossum
(Monodelphis domestica)
Mammalia NAA10 34
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NAA10 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia naa10 33
  • 76.41 (n)
Str.2590 33
zebrafish
(Danio rerio)
Actinopterygii naa10 33 34
  • 74.69 (n)
wufc66b08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9985 33
fruit fly
(Drosophila melanogaster)
Insecta vnc 33 34
  • 77.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005410 33
  • 71.46 (n)
worm
(Caenorhabditis elegans)
Secernentea K07H8.3 33 34
  • 64.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARD1 34 36
  • 43 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.2977 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3014 33
barley
(Hordeum vulgare)
Liliopsida Hv.2338 33
rice
(Oryza sativa)
Liliopsida Os.10971 33
wheat
(Triticum aestivum)
Liliopsida Ta.5608 33
corn
(Zea mays)
Liliopsida Zm.2319 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11133 34
  • 63 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.631 33
Species where no ortholog for NAA10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NAA10 Gene

ENSEMBL:
Gene Tree for NAA10 (if available)
TreeFam:
Gene Tree for NAA10 (if available)

Paralogs for NAA10 Gene

Paralogs for NAA10 Gene

(4) SIMAP similar genes for NAA10 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NAA10: view

Variants for NAA10 Gene

Sequence variations from dbSNP and Humsavar for NAA10 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1057519448 pathogenic, N-terminal acetyltransferase deficiency 153,932,549(-) A/G coding_sequence_variant, missense_variant
rs1057519620 likely-benign, Mental retardation, autosomal dominant 153,930,112(-) G/A coding_sequence_variant, missense_variant
rs387906701 pathogenic, N-terminal acetyltransferase deficiency, N-terminal acetyltransferase deficiency (NATD) [MIM:300855] 153,934,388(-) A/G coding_sequence_variant, missense_variant
rs587776457 pathogenic, Lenz microphthalmia syndrome 153,930,761(-) A/T splice_donor_variant
rs587780562 pathogenic, N-terminal acetyltransferase deficiency 153,932,338(-) C/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for NAA10 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV gain+loss 17666407
nsv1144325 CNV deletion 24896259
nsv469867 CNV loss 16826518

Variation tolerance for NAA10 Gene

Residual Variation Intolerance Score: 24.1% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAA10 Gene

Human Gene Mutation Database (HGMD)
NAA10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAA10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAA10 Gene

Disorders for NAA10 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NAA10 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ogden syndrome
  • ogdns
microphthalmia, syndromic 1
  • mcops1
cardiogenic shock
  • shock cardiogenic
microphthalmia
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards
Search NAA10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NAA10_HUMAN
  • Microphthalmia, syndromic, 1 (MCOPS1) [MIM:309800]: A rare syndrome defined by the canonical features of unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary systems. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. Anomalies of the digits, teeth, and ears are hallmarks of MCOPS1. Intellectual disability ranges from mild to severe, with self-mutilating behaviors and seizures in severely affected MCOPS1 individuals. {ECO:0000269 PubMed:24431331}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • N-terminal acetyltransferase deficiency (NATD) [MIM:300855]: An enzymatic deficiency resulting in postnatal growth failure with severe delays and dysmorphic features. It is clinically characterized by wrinkled forehead, prominent eyes, widely opened anterior and posterior fontanels, downsloping palpebral fissures, thickened lids, large ears, flared nares, hypoplastic alae, short columella, protruding upper lip, and microretrognathia. There are also delayed closing of fontanels and broad great toes. Skin is characterized by redundancy or laxity with minimal subcutaneous fat, cutaneous capillary malformations, and very fine hair and eyebrows. Death results from cardiogenic shock following arrhythmia. {ECO:0000269 PubMed:21700266, ECO:0000269 PubMed:25489052, ECO:0000269 PubMed:26522270}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NAA10

genes like me logo Genes that share disorders with NAA10: view

No data available for Genatlas for NAA10 Gene

Publications for NAA10 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 58
  2. Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans. (PMID: 19420222) Arnesen T … Gevaert K (Proceedings of the National Academy of Sciences of the United States of America 2009) 2 3 4 58
  3. Identification and characterization of the human ARD1-NATH protein acetyltransferase complex. (PMID: 15496142) Arnesen T … Lillehaug JR (The Biochemical journal 2005) 3 4 22 58
  4. Regulation and destabilization of HIF-1alpha by ARD1-mediated acetylation. (PMID: 12464182) Jeong JW … Kim KW (Cell 2002) 3 4 22 58
  5. Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae. (PMID: 7981673) Tribioli C … Toniolo D (Human molecular genetics 1994) 2 3 4 58

Products for NAA10 Gene

Sources for NAA10 Gene

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