Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian... See more...

Aliases for DAP3 Gene

Aliases for DAP3 Gene

  • Death Associated Protein 3 2 3 5
  • MRP-S29 2 3 4
  • MRPS29 2 3 4
  • DAP-3 2 3 4
  • Mitochondrial Small Ribosomal Subunit Protein MS29 3 4
  • Ionizing Radiation Resistance Conferring Protein 3 4
  • 28S Ribosomal Protein S29, Mitochondrial 3 4
  • Mitochondrial 28S Ribosomal Protein S29 2 3
  • BMRP-10 2 3
  • S29mt 3 4
  • Death-Associated Protein 3 4
  • DKFZp686G12159 2
  • MGC126058 2
  • MGC126059 2
  • DAP3 5

External Ids for DAP3 Gene

Previous GeneCards Identifiers for DAP3 Gene

  • GC01P153522
  • GC01P151406
  • GC01P152436
  • GC01P152875
  • GC01P152471
  • GC01P153925
  • GC01P127020

Summaries for DAP3 Gene

Entrez Gene Summary for DAP3 Gene

  • Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010]

GeneCards Summary for DAP3 Gene

DAP3 (Death Associated Protein 3) is a Protein Coding gene. Diseases associated with DAP3 include Grange Syndrome. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance.

UniProtKB/Swiss-Prot Summary for DAP3 Gene

Gene Wiki entry for DAP3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DAP3 Gene

Genomics for DAP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DAP3 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 DAP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DAP3

Top Transcription factor binding sites by QIAGEN in the DAP3 gene promoter:
  • GR
  • GR-alpha
  • YY1

Genomic Locations for DAP3 Gene

Latest Assembly
chr1:155,687,902-155,739,010
(GRCh38/hg38)
Size:
51,109 bases
Orientation:
Plus strand

Previous Assembly
chr1:155,658,882-155,708,801
(GRCh37/hg19 by Entrez Gene)
Size:
49,920 bases
Orientation:
Plus strand

chr1:155,657,751-155,708,801
(GRCh37/hg19 by Ensembl)
Size:
51,051 bases
Orientation:
Plus strand

Genomic View for DAP3 Gene

Genes around DAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAP3 Gene

Proteins for DAP3 Gene

  • Protein details for DAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51398-RT29_HUMAN
    Recommended name:
    28S ribosomal protein S29, mitochondrial
    Protein Accession:
    P51398
    Secondary Accessions:
    • B4DP59
    • B4DY62
    • E7EM60
    • Q13044
    • Q68CT7
    • Q96Q20

    Protein attributes for DAP3 Gene

    Size:
    398 amino acids
    Molecular mass:
    45566 Da
    Quaternary structure:
    • Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins (PubMed:25838379). Interacts with DELE1 (PubMed:20563667). Interacts with NOA1 (PubMed:19103604).
    SequenceCaution:
    • Sequence=AAA57443.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DAP3 Gene

    Alternative splice isoforms for DAP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DAP3 Gene

Post-translational modifications for DAP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DAP3 Gene

Domains & Families for DAP3 Gene

Gene Families for DAP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for DAP3 Gene

InterPro:
Blocks:
  • Death associated protein 3 family signature

Suggested Antigen Peptide Sequences for DAP3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57409, highly similar to Mitochondrial 28S ribosomal protein S29 (B4DP59_HUMAN)
  • Mitochondrial ribosomal protein S29 (E2JL21_HUMAN)
  • Ionizing radiation resistance conferring protein (RT29_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51398

UniProtKB/Swiss-Prot:

RT29_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mS29 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mS29 family.
genes like me logo Genes that share domains with DAP3: view

Function for DAP3 Gene

Molecular function for DAP3 Gene

UniProtKB/Swiss-Prot Function:
Involved in mediating interferon-gamma-induced cell death.
GENATLAS Biochemistry:
death associated protein 3,ubiquitously expressed,involved in mediating interferon gamma induced apoptosis,and as well as TNF and TNFRSF6 induced cell death,acting upstream caspases

Phenotypes From GWAS Catalog for DAP3 Gene

Gene Ontology (GO) - Molecular Function for DAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0003735 structural constituent of ribosome IBA 21873635
GO:0005515 protein binding IPI 19103604
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with DAP3: view
genes like me logo Genes that share phenotypes with DAP3: view

Animal Models for research

  • Taconic Biosciences Mouse Models for DAP3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DAP3

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DAP3 Gene

Localization for DAP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAP3 Gene

Mitochondrion.

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 DAP3 gene
Compartment Confidence
mitochondrion 5
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA,IDA 20563667
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome IEA --
GO:0005763 mitochondrial small ribosomal subunit IBA,ISS --
genes like me logo Genes that share ontologies with DAP3: view

Pathways & Interactions for DAP3 Gene

genes like me logo Genes that share pathways with DAP3: view

Pathways by source for DAP3 Gene

2 Qiagen pathways for DAP3 Gene
  • all-trans-Retinoic Acid Mediated Apoptosis
  • TRAIL Pathway

SIGNOR curated interactions for DAP3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
GO:0097190 apoptotic signaling pathway TAS 7499268
genes like me logo Genes that share ontologies with DAP3: view

Drugs & Compounds for DAP3 Gene

(1) Additional Compounds for DAP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DAP3: view

Transcripts for DAP3 Gene

mRNA/cDNA for DAP3 Gene

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DAP3

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for DAP3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2:

Relevant External Links for DAP3 Gene

GeneLoc Exon Structure for
DAP3

Expression for DAP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DAP3 Gene

Protein differential expression in normal tissues from HIPED for DAP3 Gene

This gene is overexpressed in Bone (24.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DAP3 Gene



Protein tissue co-expression partners for DAP3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DAP3

SOURCE GeneReport for Unigene cluster for DAP3 Gene:

Hs.516746

mRNA Expression by UniProt/SwissProt for DAP3 Gene:

P51398-RT29_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for DAP3 Gene

  • Intestine(4.6)
  • Nervous system(4.2)
  • Lung(3.3)
  • Liver(2.5)
  • Pancreas(2.4)
  • Thyroid gland(2.2)
  • Heart(2.2)
  • Kidney(2.2)
  • Eye(2)
genes like me logo Genes that share expression patterns with DAP3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DAP3 Gene

Orthologs for DAP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DAP3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DAP3 30
  • 100 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia DAP3 29 30
  • 89.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DAP3 29 30
  • 85.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dap3 29 16 30
  • 83.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dap3 29
  • 82.78 (n)
Oppossum
(Monodelphis domestica)
Mammalia DAP3 30
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DAP3 30
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DAP3 29 30
  • 68.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DAP3 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dap3 29
  • 64.51 (n)
Str.16215 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.20520 29
Zebrafish
(Danio rerio)
Actinopterygii dap3 29 30
  • 62.31 (n)
OneToOne
Dr.12877 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1108 29
Fruit Fly
(Drosophila melanogaster)
Insecta mRpS29 29 30 31
  • 51.47 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000890 29
  • 47.4 (n)
Worm
(Caenorhabditis elegans)
Secernentea dap-3 29 30 31
  • 47.24 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 36 (a)
OneToOne
Species where no ortholog for DAP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 DAP3 Gene

ENSEMBL:
Gene Tree for DAP3 (if available)
TreeFam:
Gene Tree for DAP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DAP3: view image
Alliance of Genome Resources:
Additional Orthologs for DAP3

Paralogs for DAP3 Gene

Pseudogenes.org Pseudogenes for DAP3 Gene

genes like me logo Genes that share paralogs with DAP3: view

No data available for Paralogs for DAP3 Gene

Variants for DAP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DAP3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1031923 Uncertain Significance: Grange syndrome 155,688,218(+) AGAG/A
NM_139119.3(YY1AP1):c.-151-20_-151-18del
INFRAME_DELETION,INTRON
rs111718014 Likely Benign: not provided 155,688,327(+) G/A
NM_001198903.1(YY1AP1):c.138C>T (p.Cys46=)
SYNONYMOUS_VARIANT,INTRON
rs114089731 Benign: not provided 155,688,269(+) A/G
NM_001198903.1(YY1AP1):c.196T>C (p.Ser66Pro)
MISSENSE_VARIANT,INTRON
rs143953255 Benign: not provided 155,688,110(+) A/G
NM_001198903.1(YY1AP1):c.355T>C (p.Ser119Pro)
MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
rs149449921 Benign: not provided 155,688,080(+) G/A
NM_001198903.1(YY1AP1):c.385C>T (p.Leu129Phe)
MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DAP3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DAP3 Gene

Variant ID Type Subtype PubMed ID
esv2421343 CNV deletion 20811451
esv2662699 CNV deletion 23128226
esv2718429 CNV deletion 23290073
esv28903 CNV loss 19812545
esv33869 CNV loss 17666407
esv3578199 CNV loss 25503493
esv3587627 CNV loss 21293372
esv3587628 CNV gain 21293372
esv3587631 CNV loss 21293372
esv3587632 CNV loss 21293372
nsv1161728 OTHER complex 26073780
nsv3054 CNV deletion 18451855
nsv3065 CNV deletion 18451855
nsv428246 CNV gain 18775914
nsv436522 CNV deletion 17901297
nsv442072 CNV loss 18776908
nsv472921 CNV novel sequence insertion 20440878
nsv514012 CNV loss 21397061
nsv547965 CNV gain 21841781
nsv547966 CNV loss 21841781
nsv946421 CNV duplication 23825009

Variation tolerance for DAP3 Gene

Residual Variation Intolerance Score: 40.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.23; 52.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DAP3 Gene

Human Gene Mutation Database (HGMD)
DAP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DAP3
Leiden Open Variation Database (LOVD)
DAP3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DAP3 Gene

Disorders for DAP3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DAP3 Gene - From: GCD

Disorder Aliases PubMed IDs
grange syndrome
  • grng
- elite association - COSMIC cancer census association via MalaCards
Search DAP3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DAP3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DAP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DAP3 Gene

Publications for DAP3 Gene

  1. Isolation of DAP3, a novel mediator of interferon-gamma-induced cell death. (PMID: 7499268) Kissil JL … Kimchi A (The Journal of biological chemistry 1995) 2 3 4 22
  2. hNOA1 interacts with complex I and DAP3 and regulates mitochondrial respiration and apoptosis. (PMID: 19103604) Tang T … Farquhar MG (The Journal of biological chemistry 2009) 3 4 22
  3. Association between genetic variation in the gene for death-associated protein-3 (DAP3) and adult asthma. (PMID: 15179560) Hirota T … Tamari M (Journal of human genetics 2004) 3 22 40
  4. A conserved N-terminal sequence targets human DAP3 to mitochondria. (PMID: 11162496) Morgan CJ … Reynier P (Biochemical and biophysical research communications 2001) 3 4 22
  5. Assignment of death associated protein 3 (DAP3) to human chromosome 1q21 by in situ hybridization. (PMID: 9284927) Kissil JL … Kimchi A (Cytogenetics and cell genetics 1997) 2 3 22

Products for DAP3 Gene

Sources for DAP3 Gene