• Gene id: 5110

Gene Summary

• Gene Symbol: PCMT1   Gene   UCSC   Ensembl
• Aliases: PIMT
• Gene name: protein-L-isoaspartate (D-aspartate) O-methyltransferase
• Alternate names: protein-L-isoaspartate(D-aspartate) O-methyltransferase, L-isoaspartyl protein carboxyl methyltransferase, protein L-isoaspartyl/D-aspartyl methyltransferase, protein-beta-aspartate methyltransferase,
• Gene location: 6q25.1 (149749694: 149811420)     Exons: 9     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation bac
• OMIM: 176851

Protein Summary

• Protein general information: P22061  
  • Name: Protein L isoaspartate(D aspartate) O methyltransferase (PIMT) (EC 2.1.1.77) (L isoaspartyl protein carboxyl methyltransferase) (Protein L isoaspartyl/D aspartyl methyltransferase) (Protein beta aspartate methyltransferase)
  • Length: 227  
  • Mass: 24,636
• Sequence:

  MAWKSGGASHSELIHNLRKNGIIKTDKVFEVMLATDRSHYAKCNPYMDSPQSIGFQATISAPHMHAYALELLFDQ
  LHEGAKALDVGSGSGILTACFARMVGCTGKVIGIDHIKELVDDSVNNVRKDDPTLLSSGRVQLVVGDGRMGYAEE
  APYDAIHVGAAAPVVPQALIDQLKPGGRLILPVGPAGGNQMLEQYDKLQDGSIKMKPLMGVIYVPLTDKEKQWSR
  WK

• Structural information:
  • Interpro: IPR000682  IPR029063  
  • Prosite: PS01279
  • PDB: 1I1N 1KR5
  • PDBsum: 1I1N 1KR5
  • STRING: ENSP00000356348
• Other Databases: GeneCards:  PCMT1  Malacards:  PCMT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004719	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	TAS	molecular function
GO:0004719	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006479	protein methylation	TAS	biological process
GO:0030091	protein repair	TAS	biological process
GO:0030091	protein repair	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:1903561	extracellular vesicle	IDA	cellular component
GO:0004719	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	IEA	molecular function
GO:0004719	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	IEA	molecular function
GO:0004719	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	TAS	molecular function
GO:0004719	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006464	cellular protein modification process	IEA	biological process
GO:0006479	protein methylation	TAS	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0030091	protein repair	TAS	biological process
GO:0030091	protein repair	TAS	biological process
GO:0032259	methylation	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:1903561	extracellular vesicle	IDA	cellular component
GO:0004719	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	TAS	molecular function
GO:0004719	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006479	protein methylation	TAS	biological process
GO:0030091	protein repair	TAS	biological process
GO:0030091	protein repair	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:1903561	extracellular vesicle	IDA	cellular component

Diseases

Associated diseases	References
Spinal dysraphism	GAD: 19161160
Neural tube defects	GAD: 16256389
Premature ovarian failure (POF)	INFBASE: 18582870
Asthenozoospermia	MIK: 3779581
Sperm motility	MIK: 3086132
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenospermia	MIK: 3779581
Sperm motility	MIK: 7062962
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
3779581	Asthenospermia			42 (16 normal fertile men, 26 men with various forms of asthenospermia)	Male infertility	PCM
3086132	Sperm motility				Male infertility	PCM
7062962	Sperm motility			41 (22 normal fertile men, 10 vasectomized volunteers, 9 infertile patients with nonmotile spermatozoa)	Male infertility	carboxyl methylase
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881