• Gene id: 115294

Gene Summary

• Gene Symbol: PCMTD1   Gene   UCSC   Ensembl
• Gene name: protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
• Alternate names: protein-L-isoaspartate O-methyltransferase domain-containing protein 1,
• Gene location: 8q11.23 (51899185: 51817574)     Exons: 2     NC_000008.11

Protein Summary

• Protein general information: Q96MG8  
  • Name: Protein L isoaspartate O methyltransferase domain containing protein 1
  • Length: 357  
  • Mass: 40675
• Sequence:

  MGGAVSAGEDNDDLIDNLKEAQYIRTERVEQAFRAIDRGDYYLEGYRDNAYKDLAWKHGNIHLSAPCIYSEVMEA
  LKLQPGLSFLNLGSGTGYLSTMVGLILGPFGINHGIELHSDVVEYAKEKLESFIKNSDSFDKFEFCEPAFVVGNC
  LQIASDSHQYDRIYCGAGVQKDHENYMKILLKVGGILVMPIEDQLTQIMRTGQNTWESKNILAVSFAPLVQPSKN
  DNGKPDSVGLPPCAVRNLQDLARIYIRRTLRNFINDEMQAKGIPQRAPPKRKRKRVKQRINTYVFVGNQLIPQPL
  DSEEDEKMEEDNKEEEEKDHNEAMKPEEPPQNLLREKIMKLPLPESLKAYLTYFRDK

• Structural information:
  • Interpro: IPR000682  IPR029063  
  • STRING: ENSP00000353739
• Other Databases: GeneCards:  PCMTD1  Malacards:  PCMTD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004719	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0004719	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	IEA	molecular function
GO:0006464	cellular protein modification process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006479	protein methylation	IEA	biological process
GO:0006479	protein methylation	IEA	biological process

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)