Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23203
Gene name Gene Name - the full gene name approved by the HGNC.
Peptidase, mitochondrial processing subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PMPCA
Synonyms (NCBI Gene) Gene synonyms aliases
Alpha-MPP, CLA1, CPD3, INPP5E, MAS2, P-55, SCAR2
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs143813417 G>T Conflicting-interpretations-of-pathogenicity 5 prime UTR variant, intron variant, genic upstream transcript variant, missense variant, upstream transcript variant, coding sequence variant
rs573267388 G>A,T Pathogenic Missense variant, coding sequence variant
rs746549806 G>A Pathogenic Missense variant, coding sequence variant
rs753611141 G>A,T Pathogenic Coding sequence variant, missense variant
rs768643552 G>A,C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028878 hsa-miR-26b-5p Microarray 19088304
MIRT051702 hsa-let-7e-5p CLASH 23622248
MIRT038065 hsa-miR-423-5p CLASH 23622248
MIRT722291 hsa-miR-1226-3p HITS-CLIP 19536157
MIRT722290 hsa-miR-4768-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0005515 Function Protein binding IPI 30021884, 32296183, 33961781
GO:0005615 Component Extracellular space HDA 22664934
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613036 18667 ENSG00000165688
Protein
UniProt ID Q10713
Protein name Mitochondrial-processing peptidase subunit alpha (Alpha-MPP) (Inactive zinc metalloprotease alpha) (P-55)
Protein function Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00675 Peptidase_M16 77 227 Insulinase (Peptidase family M16) Family
PF05193 Peptidase_M16_C 232 431 Peptidase M16 inactive domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with highest expression in fetal tissues and adult brain, cerebellum and cerebellar vermis. {ECO:0000269|PubMed:25808372}.
Sequence
Sequence length 525
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Processing of SMDT1
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinocerebellar Ataxia Autosomal recessive spinocerebellar ataxia 2 rs753611141, rs869025292, rs869025293, rs1057519454, rs573267388 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Inflammatory Bowel Disease Inflammatory bowel disease (MTAG) N/A N/A GWAS
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 36233161
Cerebellar Ataxia Associate 25808372
Cerebellar Diseases Associate 36233161
COVID 19 Associate 37643521
Epileptic Encephalopathy Early Infantile 3 Associate 35803560
Friedreich Ataxia Associate 25808372
Leukodystrophy Metachromatic Associate 35803560
Leukoencephalopathies Associate 35803560
Malformations of Cortical Development Associate 36233161
Mitochondrial Diseases Associate 35885985