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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... See more...
Aliases for NAA15 Gene
Aliases for NAA15 Gene
- N-Alpha-Acetyltransferase 15, NatA Auxiliary Subunit 2 3 4 5
- TBDN100 2 3 4
- NATH 2 3 4
- NMDA Receptor-Regulated Protein 1 3 4
- N-Terminal Acetyltransferase 3 4
- Gastric Cancer Antigen Ga19 3 4
- NMDA Receptor Regulated 1 2 3
- Protein Tubedown-1 3 4
- NARG1 3 4
- N(Alpha)-Acetyltransferase 15, NatA Auxiliary Subunit 2
External Ids for NAA15 Gene
- HGNC: 30782
- Entrez Gene: 80155
- Ensembl: ENSG00000164134
- OMIM: 608000
- UniProtKB: Q9BXJ9
Previous HGNC Symbols for NAA15 Gene
- NARG1
Previous GeneCards Identifiers for NAA15 Gene
- GC04P140222
- GC04P135952
Summaries for NAA15 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 the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017]
GeneCards Summary for NAA15 Gene
NAA15 (N-Alpha-Acetyltransferase 15, NatA Auxiliary Subunit) is a Protein Coding gene. Diseases associated with NAA15 include Mental Retardation, Autosomal Dominant 50 and Ogden Syndrome. Among its related pathways are Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include N-acetyltransferase activity. An important paralog of this gene is NAA16.
UniProtKB/Swiss-Prot Summary for NAA15 Gene
-
Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. The NAT activity may be important for vascular, hematopoietic and neuronal growth and development. Required to control retinal neovascularization in adult ocular endothelial cells. In complex with XRCC6 and XRCC5 (Ku80), up-regulates transcription from the osteocalcin promoter.
Additional gene information for NAA15 Gene
- HGNC(30782)
- Entrez Gene(80155)
- Ensembl(ENSG00000164134)
- OMIM(608000)
- UniProtKB(Q9BXJ9)
- Open Targets Platform(ENSG00000164134)
- Monarch Initiative
- Search for NAA15 at DataMed
- Search for NAA15 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NAA15 Gene
Genomics for NAA15 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NAA15 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NAA15 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NAA15
Genomic Locations for NAA15 Gene
Genomic Locations for NAA15 Gene
- chr4:139,301,499-139,420,033
- (GRCh38/hg38)
- Size:
- 118,535 bases
- Orientation:
- Plus strand
- chr4:140,222,609-140,341,187
- (GRCh37/hg19)
- Size:
- 118,579 bases
- Orientation:
- Plus strand
Genomic View for NAA15 Gene
Genes around NAA15 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q31.1 by HGNC
- 4q31.1 by Entrez Gene
- 4q31.1 by Ensembl
NAA15 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NAA15 Gene
Proteins for NAA15 Gene
-
Protein details for NAA15 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BXJ9-NAA15_HUMAN
- Recommended name:
- N-alpha-acetyltransferase 15, NatA auxiliary subunit
- Protein Accession:
- Q9BXJ9
- D3DNY6
- Q52LG9
- Q8IWH4
- Q8NEV2
- Q9H8P6
Protein attributes for NAA15 Gene
- Size:
- 866 amino acids
- Molecular mass:
- 101272 Da
- Quaternary structure:
-
- Component of the N-terminal acetyltransferase A (NatA) complex composed of NAA10 or probably NAA11 and NAA15 (PubMed:15496142, PubMed:16638120). Interacts with XRCC6, NAA50 and XRCC5 (PubMed:12145306, PubMed:29754825, PubMed:16507339). Associates with HYPK when in a complex with NAA10 (PubMed:20154145, PubMed:29754825). Interaction with HYPK reduces the capacity to interact with NAA50 (PubMed:29754825).
- SequenceCaution:
-
- Sequence=AAH39818.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for NAA15 Gene
Protein Expression for NAA15 Gene
Post-translational modifications for NAA15 Gene
- Cleaved by caspases during apoptosis, resulting in a stable 35 kDa fragment.
-
Ubiquitination at Lys34, Lys41, Lys262, Lys266, Lys286, Lys305, Lys312, Lys454, Lys496, Lys543, Lys659, Lys756, and Lys770
- NX_Q9BXJ9 (NX_Q9BXJ9-1)
- Modification sites at PhosphoSitePlus
Other Protein References for NAA15 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- NSJ Bioreagents NARG1 Antibody / NAA15
-
Custom Antibody ServicesOriGene Antibodies for NAA15
- Novus Biologicals Antibodies for NAA15
-
Abcam antibodies for NAA15
- Invitrogen Antibodies for NAA15 (AFLGC-NAA15)
-
Biorbyt antibodies for NAA15
-
Santa Cruz Biotechnology (SCBT) Antibodies for NAA15
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for NAA15
- Origene Custom Protein Services for NAA15
- Novus Biologicals proteins for NAA15
- antibodies-online: Show 3 available NAA15 Proteins ranked by validation data
- Compare Top NAA15 Proteins
-
Quality Products:
-
Abcam proteins for NAA15
No data available for DME Specific Peptides for NAA15 Gene
Domains & Families for NAA15 Gene
Gene Families for NAA15 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for NAA15 Gene
- InterPro:
- Blocks:
-
- FIS bacterial regulatory protein HTH signature
- ProtoNet:
Suggested Antigen Peptide Sequences for NAA15 Gene
- GenScript: Design optimal peptide antigens:
-
- Tbdn100 (NAA15_HUMAN)
- NARG1 protein (Q58F05_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NAA15 Gene
Function for NAA15 Gene
Molecular function for NAA15 Gene
- UniProtKB/Swiss-Prot Function:
- Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. The NAT activity may be important for vascular, hematopoietic and neuronal growth and development. Required to control retinal neovascularization in adult ocular endothelial cells. In complex with XRCC6 and XRCC5 (Ku80), up-regulates transcription from the osteocalcin promoter.
Phenotypes From GWAS Catalog for NAA15 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22658674 |
| GO:0004596 | contributes_to peptide alpha-N-acetyltransferase activity | IBA | 21873635 |
| GO:0005515 | protein binding | IEA,IPI | 12145306 |
| GO:0016407 | contributes_to acetyltransferase activity | IDA | 15496142 |
| GO:0043022 | contributes_to ribosome binding | IDA | 15496142 |
Phenotypes for NAA15 Gene
- GenomeRNAi human phenotypes for NAA15:
-
- no effect
- Decreased viability
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased vaccinia virus (VACV) infection
- Decreased shRNA abundance (Z-score < -2)
- Synthetic lethal with Ras
- Increased G1 DNA content
- Decreased shRNA abundance
- Increased shRNA abundance (Z-score > 2)
- Increased replication of vaccinia virus (VACV)
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NAA15 - Select products 50% OFF >
- * NAA15 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NAA15
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NAA15
-
Santa Cruz Biotechnology (SCBT) CRISPR for NAA15
miRNA for NAA15 Gene
- miRTarBase miRNAs that target NAA15
-
- hsa-miR-124-3p (MIRT004101)
- hsa-miR-16-5p (MIRT005271)
- mmu-miR-340-5p (MIRT010474)
- hsa-miR-590-3p (MIRT016209)
- hsa-miR-103a-3p (MIRT027203)
- hsa-miR-98-5p (MIRT027747)
- hsa-let-7b-5p (MIRT032425)
- hsa-miR-186-5p (MIRT093149)
- hsa-miR-2113 (MIRT093151)
- hsa-miR-1825 (MIRT093152)
- hsa-miR-4276 (MIRT093156)
- hsa-miR-3934-3p (MIRT093157)
- hsa-miR-6844 (MIRT522377)
- hsa-miR-5190 (MIRT522378)
- hsa-miR-218-5p (MIRT522379)
- hsa-miR-199a-5p (MIRT522380)
- hsa-miR-199b-5p (MIRT522381)
- mmu-miR-329-3p (MIRT577121)
- mmu-miR-362-3p (MIRT577122)
- hsa-miR-4668-5p (MIRT623184)
- hsa-miR-6773-5p (MIRT623185)
- hsa-miR-6724-5p (MIRT623186)
- hsa-miR-296-5p (MIRT623187)
- hsa-miR-6774-5p (MIRT623188)
- hsa-miR-635 (MIRT623189)
- hsa-miR-548c-3p (MIRT623190)
- hsa-miR-510-3p (MIRT627993)
- hsa-miR-6851-3p (MIRT627994)
- hsa-miR-552-5p (MIRT711148)
- hsa-miR-6776-3p (MIRT711149)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NAA15
- Browse OriGene Inhibitory RNA Products For NAA15
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAA15
Clone Products
- Applied Biological Materials (abm): Clones for NAA15 - Select products 50% OFF >
- * NAA15 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NAA15
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NAA15
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NAA15 Gene
Localization for NAA15 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NAA15 Gene
- Cytoplasm. Nucleus. Note=Mainly cytoplasmic, nuclear in some cases. Present in the free cytosolic and cytoskeleton-bound polysomes, but not in the membrane-bound polysomes.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 2 |
| golgi apparatus | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 12140756 |
| GO:0005667 | transcription factor complex | IDA | 12145306 |
| GO:0005737 | cytoplasm | IBA,IDA | 12140756 |
| GO:0005829 | cytosol | IDA | -- |
| GO:0016020 | membrane | HDA | 19946888 |
Pathways & Interactions for NAA15 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mesodermal Commitment Pathway | ||
Pathways by source for NAA15 Gene
1 BioSystems pathway for NAA15 Gene
Interacting Proteins for NAA15 Gene
Selected Interacting proteins:
Q9BXJ9-NAA15_HUMAN
ENSP00000296543
for NAA15 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for NAA15
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001525 | angiogenesis | IEA | -- |
| GO:0006474 | N-terminal protein amino acid acetylation | IDA | 15496142 |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0017196 | N-terminal peptidyl-methionine acetylation | IBA | 21873635 |
| GO:0030154 | cell differentiation | IEA | -- |
No data available for SIGNOR curated interactions for NAA15 Gene
Transcripts for NAA15 Gene
mRNA/cDNA for NAA15 Gene
- 1 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000296543 6174 nts (view in UCSC)
- ENST00000398947 6072 nts (view in UCSC)
- ENST00000468029 530 nts (view in UCSC)
- ENST00000480277 852 nts (view in UCSC)
- ENST00000482087 550 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NAA15 - Select products 50% OFF >
- * NAA15 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NAA15
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NAA15
-
Santa Cruz Biotechnology (SCBT) CRISPR for NAA15
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NAA15
- Browse OriGene Inhibitory RNA Products For NAA15
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAA15
Clone Products
- Applied Biological Materials (abm): Clones for NAA15 - Select products 50% OFF >
- * NAA15 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NAA15
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NAA15
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | · | 16c | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 20b | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||
| SP2: | |||||||||
| SP3: | |||||||||
| SP4: | |||||||||
| SP5: | - | ||||||||
| SP6: | - | - | |||||||
| SP7: | |||||||||
| SP8: |
Relevant External Links for NAA15 Gene
- GeneLoc Exon Structure for
- NAA15
Expression for NAA15 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Gonad (Reproductive System)
- Primordial Germ Cells Primitive Gonad
This gene is overexpressed in Lymph node (16.5) and Peripheral blood mononuclear cells (12.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NAA15 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NAA15
SOURCE GeneReport for Unigene cluster for NAA15 Gene:
Hs.745047mRNA Expression by UniProt/SwissProt for NAA15 Gene:
Q9BXJ9-NAA15_HUMAN
Tissue specificity:
Expressed at high levels in testis and in ocular endothelial cells. Also found in brain (corpus callosum), heart, colon, bone marrow and at lower levels in most adult tissues, including thyroid, liver, pancreas, mammary and salivary glands, lung, ovary, urogenital system and upper gastrointestinal tract. Overexpressed in gastric cancer, in papillary thyroid carcinomas and in a Burkitt lymphoma cell line (Daudi). Specifically suppressed in abnormal proliferating blood vessels in eyes of patients with proliferative diabetic retinopathy.
Evidence on tissue expression from TISSUES for NAA15 Gene
- Nervous system(4.7)
- Heart(4.5)
- Bone(4.1)
- Muscle(2.4)
- Liver(2.2)
- Skin(2.1)
- Kidney(2.1)
Primer Products
-
OriGene qPCR primer pairs for NAA15
-
OriGene qPCR primer pairs and template standards for NAA15
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAA15 Gene
Orthologs for NAA15 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NAA15 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | NAA15 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NAA15 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NAA15 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Naa15 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Naa15 30 |
|
||
| Chicken (Gallus gallus) |
Aves | NAA15 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | NAA15 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | naa15 30 |
|
||
| Str.7467 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4200 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | naa15b 31 |
|
OneToMany | |
| naa15a 30 31 |
|
OneToMany | |||
| Dr.15380 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Nat1 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | hpo-29 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NAT1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10581 31 |
|
OneToMany |
- Species where no ortholog for NAA15 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 Vase (Ciona intestinalis)
- 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 NAA15 Gene
- ENSEMBL:
- Gene Tree for NAA15 (if available)
- TreeFam:
- Gene Tree for NAA15 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NAA15: view image
Paralogs for NAA15 Gene
Variants for NAA15 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NAA15 Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 641161 | Pathogenic: not provided | 139,334,222(+) | C/T | NONSENSE | |
| 716110 | Benign: not provided | 139,370,401(+) | C/T | SYNONYMOUS_VARIANT | |
| 730948 | Benign: not provided | 139,378,814(+) | T/C | SYNONYMOUS_VARIANT | |
| 776020 | Benign: not provided | 139,349,481(+) | A/G | SYNONYMOUS_VARIANT | |
| 799117 | Likely Benign: not provided | 139,387,970(+) | T/C | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1532e212 | CNV | loss | 25503493 |
| dgv5409n100 | CNV | loss | 25217958 |
| dgv9292n54 | CNV | loss | 21841781 |
| dgv9293n54 | CNV | loss | 21841781 |
| dgv9294n54 | CNV | loss | 21841781 |
| dgv977e199 | CNV | deletion | 23128226 |
| esv2728426 | CNV | deletion | 23290073 |
| esv2762465 | CNV | loss | 21179565 |
| esv3564714 | CNV | deletion | 23714750 |
| esv3602437 | CNV | loss | 21293372 |
| nsv1023892 | CNV | gain | 25217958 |
| nsv1034429 | CNV | loss | 25217958 |
| nsv442922 | CNV | loss | 18776908 |
| nsv4529 | CNV | insertion | 18451855 |
| nsv478370 | CNV | novel sequence insertion | 20440878 |
| nsv514254 | CNV | loss | 21397061 |
| nsv595589 | CNV | loss | 21841781 |
| nsv595592 | CNV | loss | 21841781 |
| nsv822748 | CNV | loss | 20364138 |
| nsv830084 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
9.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.09;
22.26% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NAA15 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAA15 Gene
Disorders for NAA15 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal dominant 50 |
|
|
| ogden syndrome |
|
|
| transient bullous dermolysis of the newborn |
|
|
| mental retardation, autosomal dominant 10 |
|
|
| epidermolysis bullosa dystrophica |
|
|
Search NAA15 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NAA15_HUMAN- Mental retardation, autosomal dominant 50 (MRD50) [MIM:617787]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:28191889}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for NAA15
No data available for Genatlas for NAA15 Gene
Publications for NAA15 Gene
- NATH, a novel gene overexpressed in papillary thyroid carcinomas. (PMID: 12140756) Fluge Ø … Lillehaug JR (Oncogene 2002) 2 3 4 23
- A synopsis of eukaryotic Nalpha-terminal acetyltransferases: nomenclature, subunits and substrates. (PMID: 19660095) Polevoda B … Sherman F (BMC proceedings 2009) 2 3 4
- 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 23
- Characterization of hARD2, a processed hARD1 gene duplicate, encoding a human protein N-alpha-acetyltransferase. (PMID: 16638120) Arnesen T … Lillehaug JR (BMC biochemistry 2006) 3 4 23
- Identification and characterization of the human ARD1-NATH protein acetyltransferase complex. (PMID: 15496142) Arnesen T … Lillehaug JR (The Biochemical journal 2005) 3 4 23
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