PTCD3 - pentatricopeptide repeat domain 3 Gene

Homo sapiens

Also known as COXPD51; MRP-S39

Gene ID: 55037 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in mitochondrial translation	IMP IMP: Inferred from mutant phenotype	19427859	GOA

Cellular Component GO Annotation	Evidence	Reference	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_3

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11355	PTCD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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