• Gene id: 55037

Gene Summary

• Gene Symbol: PTCD3   Gene   UCSC   Ensembl
• Aliases: MRP-S39
• Gene name: pentatricopeptide repeat domain 3
• Alternate names: pentatricopeptide repeat domain-containing protein 3, mitochondrial, 28S ribosomal protein S39, mitochondrial, TRG-15, mitochondrial small ribosomal subunit protein mS39, pentatricopeptide repeat-containing protein 3, mitochondrial, transformation-related gene,
• Gene location: 2p11.2 (86106234: 86142156)     Exons: 24     NC_000002.12
• OMIM: 614918

Protein Summary

• Protein general information: Q96EY7  
  • Name: Pentatricopeptide repeat domain containing protein 3, mitochondrial (28S ribosomal protein S39, mitochondrial) (MRP S39) (Mitochondrial small ribosomal subunit protein mS39) (Transformation related gene 15 protein) (TRG 15)
  • Length: 689  
  • Mass: 78550
  • Tissue specificity: Abundant in testes, skeletal muscle and heart tissue. {ECO
• Sequence:

  MAVVSAVRWLGLRSRLGQPLTGRRAGLCEQARSCRFYSGSATLSKVEGTDVTGIEEVVIPKKKTWDKVAVLQALA
  STVNRDTTAVPYVFQDDPYLMPASSLESRSFLLAKKSGENVAKFIINSYPKYFQKDIAEPHIPCLMPEYFEPQIK
  DISEAALKERIELRKVKASVDMFDQLLQAGTTVSLETTNSLLDLLCYYGDQEPSTDYHFQQTGQSEALEEENDET
  SRRKAGHQFGVTWRAKNNAERIFSLMPEKNEHSYCTMIRGMVKHRAYEQALNLYTELLNNRLHADVYTFNALIEA
  TVCAINEKFEEKWSKILELLRHMVAQKVKPNLQTFNTILKCLRRFHVFARSPALQVLREMKAIGIEPSLATYHHI
  IRLFDQPGDPLKRSSFIIYDIMNELMGKRFSPKDPDDDKFFQSAMSICSSLRDLELAYQVHGLLKTGDNWKFIGP
  DQHRNFYYSKFFDLICLMEQIDVTLKWYEDLIPSAYFPHSQTMIHLLQALDVANRLEVIPKIWKDSKEYGHTFRS
  DLREEILMLMARDKHPPELQVAFADCAADIKSAYESQPIRQTAQDWPATSLNCIAILFLRAGRTQEAWKMLGLFR
  KHNKIPRSELLNELMDSAKVSNSPSQAIEVVELASAFSLPICEGLTQRVMSDFAINQEQKEALSNLTALTSDSDT
  DSSSDSDSDTSEGK

• Structural information:
  • Interpro: IPR002885  IPR037387  IPR011990  
  • Prosite: PS51375
  • PDB: 3J9M 6NU2 6NU3
  • PDBsum: 3J9M 6NU2 6NU3
  • STRING: ENSP00000254630
• Other Databases: GeneCards:  PTCD3  Malacards:  PTCD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019843	rRNA binding	IBA	molecular function
GO:0032543	mitochondrial translation	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0043024	ribosomal small subunit binding	IBA	molecular function
GO:0019843	rRNA binding	IDA	molecular function
GO:0043024	ribosomal small subunit binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0032543	mitochondrial translation	IMP	biological process
GO:0019843	rRNA binding	IEA	molecular function
GO:0032543	mitochondrial translation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0043024	ribosomal small subunit binding	IEA	molecular function
GO:0019843	rRNA binding	IEA	molecular function
GO:0005840	ribosome	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0070125	mitochondrial translational elongation	TAS	biological process
GO:0070126	mitochondrial translational termination	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)