PTCD3
Small ribosomal subunit protein mS39
Also known as: DKFZp666K071, FLJ20758, PTCD3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96EY7
- Gene
- PTCD3
- Ensembl
- ENSG00000132300
- Chromosome
- 2
- Canonical length
- 689 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Ribosomal proteins
- Subcellular location
- Mitochondria
OverviewNCBI Gene
Enables rRNA binding activity and ribosomal small subunit binding activity. Involved in mitochondrial translation. Located in several cellular components, including cytosol; mitochondrial matrix; and nucleoplasm. Implicated in combined oxidative phosphorylation deficiency 51. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
689 residues, UniProt reviewed canonical sequence.
>Q96EY7|PTCD3
1 MAVVSAVRWL GLRSRLGQPL TGRRAGLCEQ ARSCRFYSGS ATLSKVEGTD VTGIEEVVIP
61 KKKTWDKVAV LQALASTVNR DTTAVPYVFQ DDPYLMPASS LESRSFLLAK KSGENVAKFI
121 INSYPKYFQK DIAEPHIPCL MPEYFEPQIK DISEAALKER IELRKVKASV DMFDQLLQAG
181 TTVSLETTNS LLDLLCYYGD QEPSTDYHFQ QTGQSEALEE ENDETSRRKA GHQFGVTWRA
241 KNNAERIFSL MPEKNEHSYC TMIRGMVKHR AYEQALNLYT ELLNNRLHAD VYTFNALIEA
301 TVCAINEKFE EKWSKILELL RHMVAQKVKP NLQTFNTILK CLRRFHVFAR SPALQVLREM
361 KAIGIEPSLA TYHHIIRLFD QPGDPLKRSS FIIYDIMNEL MGKRFSPKDP DDDKFFQSAM
421 SICSSLRDLE LAYQVHGLLK TGDNWKFIGP DQHRNFYYSK FFDLICLMEQ IDVTLKWYED
481 LIPSAYFPHS QTMIHLLQAL DVANRLEVIP KIWKDSKEYG HTFRSDLREE ILMLMARDKH
541 PPELQVAFAD CAADIKSAYE SQPIRQTAQD WPATSLNCIA ILFLRAGRTQ EAWKMLGLFR
601 KHNKIPRSEL LNELMDSAKV SNSPSQAIEV VELASAFSLP ICEGLTQRVM SDFAINQEQK
661 EALSNLTALT SDSDTDSSSD SDSDTSEGKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PTCD3 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)
- 0.35
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- tongue: 34 nTPM
- skeletal muscle: 31 nTPM
- heart muscle: 25 nTPM
- choroid plexus: 18 nTPM
- liver: 16 nTPM
- testis: 16 nTPM
Single-cell type
- myonuclei: 150 nCPM
- erythrocyte progenitors: 144 nCPM
- oocytes: 129 nCPM
- adrenal cortex cells: 105 nCPM
- late primary spermatocytes: 104 nCPM
- choroid plexus epithelial cells: 99 nCPM
Immune cell
- naive B-cell: 17 nTPM
- memory B-cell: 16 nTPM
- naive CD4 T-cell: 15 nTPM
- MAIT T-cell: 15 nTPM
- NK-cell: 14 nTPM
- non-classical monocyte: 14 nTPM
Brain region
- choroid plexus: 27 nTPM
- white matter: 27 nTPM
- cerebellum: 24 nTPM
- pons: 23 nTPM
- hypothalamus: 23 nTPM
- cerebral cortex: 23 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PTCD3.
Disease | AllUniProt
Conditions PTCD3 is implicated in, by any mechanism.
- Combined oxidative phosphorylation deficiency 51 (COXPD51) MIM:619057
Disease | GeneticClinVar
13 pathogenic / likely-pathogenic of 182 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Combined oxidative phosphorylation deficiency 51
- PTCD3-related disorder
- See cases
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)
- 1.08
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.48
- DepMap mean gene effect
- -0.71
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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
- Pentatricopeptide repeat
- Tetratricopeptide-like helical domain superfamily
- Pentatricopeptide repeat domain
- Pentatricopeptide repeat domain-containing protein 3
- Small ribosomal subunit protein mS39, PPR
- Small ribosomal subunit protein mS39, PPR
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PTCD3 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 PTCD3 as an antibody target. Whether an autoantibody or antibody against PTCD3 could matter depends on whether native PTCD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PTCD3 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 PTCD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...