• Gene id: 23203

Gene Summary

• Gene Symbol: PMPCA   Gene   UCSC   Ensembl
• Aliases: Alpha-MPP, CLA1, CPD3, INPP5E, P-55, SCAR2
• Gene name: peptidase, mitochondrial processing subunit alpha
• Alternate names: mitochondrial-processing peptidase subunit alpha, Cerebellar ataxia-1, cerebellar ataxia 1 (autosomal recessive), inactive zinc metalloprotease alpha, inositol polyphosphate-5-phosphatase, 72 kD, mitochondrial matrix processing protease, alpha subunit, peptidas,
• Gene location: 9q34.3 (136410572: 136423760)     Exons: 13     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in th
• OMIM: 613036

Protein Summary

• Protein general information: Q10713  
  • Name: Mitochondrial processing peptidase subunit alpha (Alpha MPP) (Inactive zinc metalloprotease alpha) (P 55)
  • Length: 525  
  • Mass: 58253
  • Tissue specificity: Ubiquitously expressed with highest expression in fetal tissues and adult brain, cerebellum and cerebellar vermis. {ECO
• Sequence:

  MAAVVLAATRLLRGSGSWGCSRLRFGPPAYRRFSSGGAYPNIPLSSPLPGVPKPVFATVDGQEKFETKVTTLDNG
  LRVASQNKFGQFCTVGILINSGSRYEAKYLSGIAHFLEKLAFSSTARFDSKDEILLTLEKHGGICDCQTSRDTTM
  YAVSADSKGLDTVVALLADVVLQPRLTDEEVEMTRMAVQFELEDLNLRPDPEPLLTEMIHEAAYRENTVGLHRFC
  PTENVAKINREVLHSYLRNYYTPDRMVLAGVGVEHEHLVDCARKYLLGVQPAWGSAEAVDIDRSVAQYTGGIAKL
  ERDMSNVSLGPTPIPELTHIMVGLESCSFLEEDFIPFAVLNMMMGGGGSFSAGGPGKGMFSRLYLNVLNRHHWMY
  NATSYHHSYEDTGLLCIHASADPRQVREMVEIITKEFILMGGTVDTVELERAKTQLTSMLMMNLESRPVIFEDVG
  RQVLATRSRKLPHELCTLIRNVKPEDVKRVASKMLRGKPAVAALGDLTDLPTYEHIQTALSSKDGRLPRTYRLFR

• Structural information:
  • Interpro: IPR011249  IPR011765  IPR001431  IPR007863  IPR037715  
  • Prosite: PS00143
  • STRING: ENSP00000360782
• Other Databases: GeneCards:  PMPCA  Malacards:  PMPCA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004175	endopeptidase activity	IBA	contributes to
GO:0005739	mitochondrion	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0006627	protein processing involved in protein targeting to mitochondrion	IBA	biological process
GO:0017087	mitochondrial processing peptidase complex	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0006627	protein processing involved in protein targeting to mitochondrion	IMP	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006627	protein processing involved in protein targeting to mitochondrion	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	TAS	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006627	protein processing involved in protein targeting to mitochondrion	IDA	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0006508	proteolysis	TAS	biological process
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Teratozoospermia	MIK: 17327269

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)