DAP3
death associated protein 3
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% 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]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs184679972 | 1:155,658,184 | C/A | synonymous variant | — |
| rs570197886 | 1:155,663,235 | C/A | — | — |
| rs549525988 | 1:155,667,464 | C/T | — | — |
| rs764152940 | 1:155,679,611 | A/G | — | uncertain significance |
| rs369497354 | 1:155,679,618 | G/A | — | likely benign |
| rs61817763 | 1:155,681,157 | G/A | upstream gene variant | — |
| rs770793096 | 1:155,686,809 | C/T | — | likely benign |
| rs146211768 | 1:155,686,867 | A/G | — | uncertain significance |
| rs753527370 | 1:155,691,345 | A/G | — | likely benign |
| rs200299293 | 1:155,695,723 | G/C | — | uncertain significance |
| rs759703250 | 1:155,695,733 | C/T | — | uncertain significance |
| rs146215312 | 1:155,697,441 | G/A | — | likely benign |
| rs1327083426 | 1:155,697,473 | G/C | — | uncertain significance |
| rs946995325 | 1:155,697,491 | A/G | — | uncertain significance |
| rs201777168 | 1:155,697,501 | A/G | — | uncertain significance |
| rs150553683 | 1:155,697,515 | C/T | — | uncertain significance |
| rs148371927 | 1:155,697,526 | C/T | — | likely benign |
| rs2526486685 | 1:155,698,890 | C/T | — | uncertain significance |
| rs57692591 | 1:155,699,032 | G/T | — | benign |
| rs375689451 | 1:155,699,156 | C/G | — | uncertain significance |
| rs2526520750 | 1:155,701,198 | A/G | — | uncertain significance |
| rs2526527179 | 1:155,701,757 | C/T | — | uncertain significance |
| rs373125599 | 1:155,701,804 | C/T | — | uncertain significance |
| rs2526527984 | 1:155,701,811 | A/C | — | uncertain significance |
| rs772402501 | 1:155,706,834 | A/G | — | uncertain significance |
| rs1660001313 | 1:155,707,975 | T/G | — | likely pathogenic |
| rs536103220 | 1:155,708,010 | G/A | — | pathogenic |
| rs758540792 | 1:155,708,013 | C/T | — | uncertain significance |
| rs779948728 | 1:155,708,014 | G/A | — | uncertain significance |
| rs111463064 | 1:155,708,019 | T/A | — | uncertain significance |
| rs781562698 | 1:155,708,020 | G/A | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.