• Gene id: 26024

Gene Summary

• Gene Symbol: PTCD1   Gene   UCSC   Ensembl
• Gene name: pentatricopeptide repeat domain 1
• Alternate names: pentatricopeptide repeat-containing protein 1, mitochondrial,
• Gene location: 7q22.1 (99438797: 99416738)     Exons: 8     NC_000007.14
• Gene summary(Entrez): 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 occurrin
• OMIM: 614774

Protein Summary

• Protein general information: O75127  
  • Name: Pentatricopeptide repeat containing protein 1, mitochondrial
  • Length: 700  
  • Mass: 78856
  • Tissue specificity: Abundant in testes, skeletal muscle and heart. {ECO
• Sequence:

  MDFVRLARLFARARPMGLFILQHLDPCRARWAGGREGLMRPMWAPFSSSSSQLPLGQERQENTGSLGSDPSHSNS
  TATQEEDEEEEESFGTLSDKYSSRRLFRKSAAQFHNLRFGERRDEQMEPEPKLWRGRRNTPYWYFLQCKHLIKEG
  KLVEALDLFERQMLKEERLQPMESNYTVLIGGCGRVGYLKKAFNLYNQMKKRDLEPSDATYTALFNVCAESPWKD
  SALQSALKLRQQLQAKNFELNLKTYHALLKMAAKCADLRMCLDVFKEIIHKGHVVTEETFSFLLMGCIQDKKTGF
  RYALQVWRLMLSLGLQPSRDSYNLLLVAARDCGLGDPQVASELLLKPREEATVLQPPVSRQRPRRTAQAKAGNLM
  SAMLHVEALERQLFLEPSQALGPPEPPEARVPGKAQPEVDTKAEPSHTAALTAVALKPPPVELEVNLLTPGAVPP
  TVVSFGTVTTPADRLALIGGLEGFLSKMAEHRQQPDIRTLTLLAEVVESGSPAESLLLALLDEHQVEADLTFFNT
  LVRKKSKLGDLEGAKALLPVLAKRGLVPNLQTFCNLAIGCHRPKDGLQLLTDMKKSQVTPNTHIYSALINAAIRK
  LNYTYLISILKDMKQNRVPVNEVVIRQLEFAAQYPPTFDRYQGKNTYLEKIDGFRAYYKQWLTVMPAEETPHPWQ
  KFRTKPQGDQDTGKEADDGCALGGR

• Structural information:
  • Interpro: IPR002885  IPR033443  IPR011990  
  • Prosite: PS51375
  • DIP: 56845
  • STRING: ENSP00000292478
• Other Databases: GeneCards:  PTCD1  Malacards:  PTCD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0000049	tRNA binding	IBA	molecular function
GO:0042780	tRNA 3'-end processing	IBA	biological process
GO:0042780	tRNA 3'-end processing	IDA	biological process
GO:0000049	tRNA binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005759	mitochondrial matrix	ISS	cellular component
GO:0008033	tRNA processing	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray