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PTCD1 - pentatricopeptide repeat domain 1 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26024

About PTCD1

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:99,416,739-99,438,798 (from NCBI)

This gene has 5 transcripts (splice variants), 190 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 5.8), bone marrow (RPKM 4.7) and 25 other tissues.

Summary

This gene encodes a mitochondrial protein that binds leucine tRNAs and Other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP Synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene. [provided by RefSeq, Aug 2015]

PTCD1 Products (1)

mRNA	Protein	Name
NM_015545.4	NP_056360.2	pentatricopeptide repeat-containing protein 1, mitochondrial

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables tRNA binding	IDA IDA: Inferred from direct assay	19651879	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in tRNA 3'-end processing	IDA IDA: Inferred from direct assay	21857155	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	19651879	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

PTCD1 Protein Structure

PPR_2

PPR_3

0
200
400
600
700 a.a.

Protein Preferred Names	Protein Names
pentatricopeptide repeat-containing protein 1, mitochondrial

PTCD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PTCD1	O75127	NFKBID	Homo sapiens	Q8NI38	Y2H Prey Pooling	32296183
Intra	PTCD1	O75127	NFKBID	Homo sapiens	Q8NI38	Y2H Array	32296183
Intra	PTCD1	O75127	NFKBID	Homo sapiens	Q8NI38	Validated Y2H	32296183
Intra	PTCD1	O75127	TFIP11	Homo sapiens	Q9UBB9	Y2H Prey Pooling	32296183
Intra	PTCD1	O75127	TFIP11	Homo sapiens	Q9UBB9	Validated Y2H	32296183
Intra	PTCD1	O75127	TFIP11	Homo sapiens	Q9UBB9	Y2H Array	32296183
Intra	PTCD1	O75127	MTUS2	Homo sapiens	Q5JR59-3	Y2H Prey Pooling	32296183
Intra	PTCD1	O75127	MTUS2	Homo sapiens	Q5JR59-3	Validated Y2H	32296183
Intra	PTCD1	O75127	MTUS2	Homo sapiens	Q5JR59-3	Y2H Array	32296183
Intra	PTCD1	O75127	GEMIN4	Homo sapiens	P57678	Y2H Prey Pooling	32296183
Intra	PTCD1	O75127	GEMIN4	Homo sapiens	P57678	Y2H Array	32296183
Intra	PTCD1	O75127	GEMIN4	Homo sapiens	P57678	Validated Y2H	32296183
Intra	PTCD1	O75127	CARD10	Homo sapiens	Q9BWT7	Y2H Prey Pooling	32296183
Intra	PTCD1	O75127	CARD10	Homo sapiens	Q9BWT7	Validated Y2H	32296183
Intra	PTCD1	O75127	CARD10	Homo sapiens	Q9BWT7	Y2H Array	32296183
Intra	PTCD1	O75127	FKBP7	Homo sapiens	Q9Y680	Y2H Array	32296183
Intra	PTCD1	O75127	FKBP7	Homo sapiens	Q9Y680	Y2H Prey Pooling	32296183
Intra	PTCD1	O75127	FKBP7	Homo sapiens	Q9Y680	Validated Y2H	32296183
Intra	PTCD1	O75127	SYP	Homo sapiens	P08247	Y2H Array	32296183
Intra	PTCD1	O75127	SYP	Homo sapiens	P08247	Validated Y2H	32296183
Intra	PTCD1	O75127	SYP	Homo sapiens	P08247	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Raynaud-Claes Syndrome	Mrx49 MRXSRC Mental Retardation, X-Linked 49 Mrx15 Clcn4-Related X-Linked Intellectual Disability Syndrome Mental Retardation, X-Linked 15 X-Linked Mental Retardation 15 X-Linked Mental Retardation 49 Mental Retardation, X-Linked-49
Deafness, Aminoglycoside-Induced	Streptomycin Ototoxicity Deafness, Mitochondrial, Modifier Of Aminoglycoside-Induced Deafness Deafness, Streptomycin-Induced Streptomycin-Induced Deafness DFNI
Mitochondrial Dna Depletion Syndrome 4b	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Mngie Syndrome Thymidine Phosphorylase Deficiency MTDPS4B Mitochondrial Neurogastrointestinal Encephalopathy Disease Mngie Myoneurogastrointestinal Encephalopathy Syndrome Ogimd Oculogastrointestinal Muscular Dystrophy Polip Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related Mngie, Polg-Related Mepop Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction Mngie Disease Mitochondrial Dna Depletion Syndrome 4b Mngie Type Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related Mngie Polg-Related Mitochondrial Dna Depletion Syndrome, Type 4b Visceral Myopathy Familial External Ophthalmoplegia
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Merrf Syndrome MERRF Fukuhara Syndrome Myoclonic Epilepsy Associated With Ragged Red Fibers Myoencephalopathy Ragged-Red Fiber Disease Myoclonic Epilepsy - Ragged Red Fibers Myoclonus Epilepsy And Ragged Red Fibers Myoclonus With Epilepsy And With Ragged Red Fibers Myoclonic Epilepsy With Ragged Red Fibers Myoclonic Epilepsy With Ragged-Red Fibers Fukuhara Disease Myoclonus Epilepsy Associated With Ragged-Red Fibres Myoclonus With Epilepsy With Ragged Red Fibers
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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11354	PTCD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PTCD1	MGD	MGI:1919049