PTCD3 - pentatricopeptide repeat domain 3 Gene

Also Known as COXPD51; MRP-S39

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55037

About PTCD3

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:86,106,235-86,142,157 (from NCBI)

This gene has 20 transcripts (splice variants), 204 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 14.7), heart (RPKM 11.3) and 25 other tissues.

Summary

Enables rRNA binding activity and ribosomal small subunit binding activity. Involved in mitochondrial translation. Located in several cellular components, including cytosol; mitochondrion; and nucleoplasm. Implicated in combined Oxidative Phosphorylation deficiency 51. [provided by Alliance of Genome Resources, Apr 2022]

PTCD3 Products (1)

mRNA Protein Name
NM_017952.6 NP_060422.4 pentatricopeptide repeat domain-containing protein 3, mitochondrial precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19427859 GOA
enables rRNA binding IDA
IDA: Inferred from direct assay
19427859 GOA
enables ribosomal small subunit binding IDA
IDA: Inferred from direct assay
19427859 GOA
Biological Process GO Annotation Evidence References Source
involved in mitochondrial translation IMP
IMP: Inferred from mutant phenotype
19427859 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrion IDA
IDA: Inferred from direct assay
19427859 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PTCD3 Protein Structure

PPR_2

PPR_2: PPR repeat family (254 - 300)

PPR_3

PPR_3: Pentatricopeptide repeat domain (333 - 367)

  • 0
  • 200
  • 400
  • 600
  • 689 a.a.
Protein Preferred Names Protein Names

pentatricopeptide repeat domain-containing protein 3, mitochondrial

  • 28S ribosomal protein S39, mitochondrial

PTCD3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PTCD3 Q96EY7 LNX2 Homo sapiens Q8N448
Y2H Array
29892012
Intra
PTCD3 Q96EY7 LNX2 Homo sapiens Q8N448
Y2H Array
31515488
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 51

  • COXPD51
Combined Oxidative Phosphorylation Deficiency
Leigh Syndrome

  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy
Mitochondrial Complex I Deficiency, Nuclear Type 1

  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11355 PTCD3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21703 Ptcd3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28221 Ptcd3 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PTCD3 RGD RGD:1565582
Macaca mulatta PTCD3 VGNC VGNC:76309
Felis catus PTCD3 VGNC VGNC:64423
Canis familiaris PTCD3 VGNC VGNC:45132
Mus musculus PTCD3 MGD MGI:1917206
Bos taurus PTCD3 VGNC VGNC:33491
Others PTCD3 NCBI