Gene Gene information from NCBI Gene database.
Entrez ID 7818
Gene name Death associated protein 3
Gene symbol DAP3
Synonyms (NCBI Gene)
DAP-3MRP-S29MRPS29PRLTS7S29mtbMRP-10mS29
Chromosome 1
Chromosome location 1q22
Summary 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% prot
miRNA miRNA information provided by mirtarbase database.
167
miRTarBase ID miRNA Experiments Reference
MIRT031739 hsa-miR-16-5p Proteomics 18668040
MIRT031739 hsa-miR-16-5p CLASH 23622248
MIRT044320 hsa-miR-106b-5p CLASH 23622248
MIRT043117 hsa-miR-324-5p CLASH 23622248
MIRT040466 hsa-miR-615-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ELK1 Unknown 19536094
ESRRA Unknown 19536094
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003735 Function Structural constituent of ribosome IBA
GO:0003735 Function Structural constituent of ribosome IMP 39701103
GO:0003924 Function GTPase activity IMP 39701103
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602074 2673 ENSG00000132676
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51398
Protein name Small ribosomal subunit protein mS29 (EC 3.6.5.-) (28S ribosomal protein S29, mitochondrial) (MRP-S29) (S29mt) (Death-associated protein 3) (DAP-3) (Ionizing radiation resistance conferring protein)
Protein function As a component of the mitochondrial small ribosomal subunit, it plays a role in the translation of mitochondrial mRNAs (PubMed:39701103). Involved in mediating interferon-gamma-induced cell death (PubMed:7499268). Displays GTPase activity in vit
PDB 3J9M , 6NU2 , 6NU3 , 6RW4 , 6RW5 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5I , 7A5K , 7L08 , 7OG4 , 7P2E , 7PNX , 7PNY , 7PNZ , 7PO0 , 7PO1 , 7PO2 , 7PO3 , 7QI4 , 7QI5 , 7QI6 , 8ANY , 8CSP , 8CSQ , 8CSR , 8CSS , 8CST , 8CSU , 8K2A , 8OIR , 8OIS , 8QRK , 8QRL , 8QRM , 8QRN , 8RRI , 8XT0 , 8XT2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10236 DAP3 99 394 Mitochondrial ribosomal death-associated protein 3 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 398
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Mitochondrial translation elongation
Mitochondrial translation termination
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DAP3-related disorder Likely pathogenic rs1660001313 RCV005052081
Perrault syndrome 1 Likely pathogenic; Pathogenic rs536103220, rs781562698 RCV004585045
RCV004585046
Perrault syndrome 7 Likely pathogenic; Pathogenic rs536103220, rs781562698 RCV005208213
RCV005208214
See cases Likely pathogenic rs1660001313 RCV003991072
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 26356813, 33401559, 37023702
Ataxia Telangiectasia Associate 20079882
Breast Neoplasms Associate 36382667
Carcinoma Hepatocellular Associate 36028814, 36769187, 37400785
Cerebral Infarction Associate 31436916
Colorectal Neoplasms Associate 36382667
Gastritis Atrophic Associate 17366642
Glioma Associate 20079882
Neoplasms Stimulate 19536094
Neoplasms Associate 24150215, 32596459, 36382667