DAP3
Small ribosomal subunit protein mS29
Also known as: bMRP-10, DAP-3, DKFZp686G12159, MGC126058, MGC126059, MRP-S29, MRPS29, RT29_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P51398
- Gene
- DAP3
- Ensembl
- ENSG00000132676
- Chromosome
- 1
- Canonical length
- 398 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Ribosomal proteins
- Subcellular location
- Nucleoplasm,Mitochondria
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
398 residues, UniProt reviewed canonical sequence.
>P51398|DAP3
1 MMLKGITRLI SRIHKLDPGR FLHMGTQARQ SIAAHLDNQV PVESPRAISR TNENDPAKHG
61 DQHEGQHYNI SPQDLETVFP HGLPPRFVMQ VKTFSEACLM VRKPALELLH YLKNTSFAYP
121 AIRYLLYGEK GTGKTLSLCH VIHFCAKQDW LILHIPDAHL WVKNCRDLLQ SSYNKQRFDQ
181 PLEASTWLKN FKTTNERFLN QIKVQEKYVW NKRESTEKGS PLGEVVEQGI TRVRNATDAV
241 GIVLKELKRQ SSLGMFHLLV AVDGINALWG RTTLKREDKS PIAPEELALV HNLRKMMKND
301 WHGGAIVSAL SQTGSLFKPR KAYLPQELLG KEGFDALDPF IPILVSNYNP KEFESCIQYY
361 LENNWLQHEK APTEEGKKEL LFLSNANPSL LERHCAYLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DAP3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 125 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 125 nTPM
- heart muscle: 84 nTPM
- tongue: 83 nTPM
- liver: 82 nTPM
- thymus: 75 nTPM
- tonsil: 74 nTPM
Single-cell type
- sertoli cells: 279 nCPM
- syncytiotrophoblasts: 251 nCPM
- cardiomyocytes: 169 nCPM
- gastric progenitor cells: 165 nCPM
- myonuclei: 157 nCPM
- esophageal apical cells: 150 nCPM
Immune cell
- naive CD4 T-cell: 193 nTPM
- MAIT T-cell: 179 nTPM
- T-reg: 174 nTPM
- naive CD8 T-cell: 168 nTPM
- total PBMC: 162 nTPM
- memory CD4 T-cell: 156 nTPM
Brain region
- white matter: 67 nTPM
- pons: 66 nTPM
- hypothalamus: 61 nTPM
- thalamus: 61 nTPM
- cerebral cortex: 60 nTPM
- midbrain: 60 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DAP3.
Disease | AllUniProt
Conditions DAP3 is implicated in, by any mechanism.
- Perrault syndrome 7 (PRLTS7) MIM:621101
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 81 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Perrault syndrome 7
- Perrault syndrome 1
- See cases
- DAP3-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.11
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.31
- DepMap mean gene effect
- -0.67
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 17% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- P-loop containing nucleoside triphosphate hydrolase
- Small ribosomal subunit protein mS29, metazoa
- Small ribosomal subunit protein mS29
- Mitochondrial ribosomal death-associated protein 3
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DAP3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DAP3 as an antibody target. Whether an autoantibody or antibody against DAP3 could matter depends on whether native DAP3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DAP3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DAP3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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