DAP3 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | DAP3 |
| Official Name | death associated protein 3 [Source:HGNC Symbol;Acc:HGNC:2673] |
| Ensembl ID | ENSG00000132676 |
| Bio databases IDs | |
| Aliases | death associated protein 3, mitochondrial 28S ribosomal protein S29 |
| Synonyms | 4921514D13Rik, bMRP-10, Ced3, death associated protein 3, IONIZING RADIATION RESISTANCE CONFERRING, MRP-S29, mS29, S29mt |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DAP3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- mitochondrial presequence
- N-terminal helicase domain of the DEAD-box helicase superfamily
- protein binding
- basic helix loop helix/Per Arnt Sim domain
- GTP binding motif, P-loop
Pathways
Biological processes and signaling networks where the DAP3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin resistance
- adenoma formation
- epithelial cancer
- inflammatory bowel disease
- gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
- Perrault syndrome type 1
- breast carcinoma
- thyroid cancer
- major depression
- prostatic carcinoma
role in cell
- growth
- apoptosis
- morphology
- cell death
- phosphorylation in
- anoikis
- fragmentation
- splicing regulation in
- autophagy in
- translation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Mitochondria
- mitochondrial matrix
- mitochondrial inner membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DAP3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- apoptotic signaling pathway
- mitochondrial translation
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial small ribosomal subunit
- mitochondrial inner membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- RNA binding
- structural constituent of ribosome