PMPCA (peptidase, mitochondrial processing subunit alpha)

Gene

• Entrez ID: 23203
• Gene name: Peptidase, mitochondrial processing subunit alpha
• Gene symbol: PMPCA
• Synonyms (NCBI Gene): Alpha-MPP, CLA1, CPD3, INPP5E, MAS2, P-55, SCAR2
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: 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 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
rs869025293	G>A	Pathogenic	Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant
rs963172852	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

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
MIRT722289	hsa-miR-4459	HITS-CLIP	19536157
MIRT722288	hsa-miR-4433a-3p	HITS-CLIP	19536157
MIRT722287	hsa-miR-6131	HITS-CLIP	19536157
MIRT722286	hsa-miR-6801-5p	HITS-CLIP	19536157
MIRT722285	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT722284	hsa-miR-3692-5p	HITS-CLIP	19536157
MIRT671726	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT671722	hsa-miR-4284	HITS-CLIP	23824327
MIRT671721	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671719	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671709	hsa-miR-6769a-5p	HITS-CLIP	23824327
MIRT671708	hsa-miR-6769b-5p	HITS-CLIP	23824327
MIRT671706	hsa-miR-7977	HITS-CLIP	23824327
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671698	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671695	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT671694	hsa-miR-3122	HITS-CLIP	23824327
MIRT671693	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT671692	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT671691	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT671723	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT671722	hsa-miR-4284	HITS-CLIP	23824327
MIRT671721	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671719	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671698	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671726	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT671723	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT671722	hsa-miR-4284	HITS-CLIP	23824327
MIRT671721	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671719	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671715	hsa-miR-363-5p	HITS-CLIP	23824327
MIRT671714	hsa-miR-6745	HITS-CLIP	23824327
MIRT671713	hsa-miR-6756-5p	HITS-CLIP	23824327
MIRT671712	hsa-miR-6766-5p	HITS-CLIP	23824327
MIRT671711	hsa-miR-1293	HITS-CLIP	23824327
MIRT671710	hsa-miR-4483	HITS-CLIP	23824327
MIRT671709	hsa-miR-6769a-5p	HITS-CLIP	23824327
MIRT671708	hsa-miR-6769b-5p	HITS-CLIP	23824327
MIRT671707	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT671706	hsa-miR-7977	HITS-CLIP	23824327
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671698	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671695	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT671694	hsa-miR-3122	HITS-CLIP	23824327
MIRT671693	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT671692	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT671691	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT610474	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT550735	hsa-miR-302f	PAR-CLIP	20371350
MIRT550733	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT563549	hsa-miR-3929	PAR-CLIP	20371350
MIRT563548	hsa-miR-4419b	PAR-CLIP	20371350
MIRT563547	hsa-miR-4478	PAR-CLIP	20371350
MIRT550734	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT550731	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT550732	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT550730	hsa-let-7a-5p	PAR-CLIP	20371350
MIRT550729	hsa-let-7b-5p	PAR-CLIP	20371350
MIRT550728	hsa-let-7c-5p	PAR-CLIP	20371350
MIRT550727	hsa-let-7d-5p	PAR-CLIP	20371350
MIRT051702	hsa-let-7e-5p	PAR-CLIP	20371350
MIRT550726	hsa-let-7f-5p	PAR-CLIP	20371350
MIRT550725	hsa-let-7g-5p	PAR-CLIP	20371350
MIRT550724	hsa-let-7i-5p	PAR-CLIP	20371350
MIRT550722	hsa-miR-4458	PAR-CLIP	20371350
MIRT550723	hsa-miR-4500	PAR-CLIP	20371350
MIRT550721	hsa-miR-98-5p	PAR-CLIP	20371350
MIRT550720	hsa-miR-202-3p	PAR-CLIP	20371350
MIRT550719	hsa-miR-6134	PAR-CLIP	20371350
MIRT550718	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT550717	hsa-miR-3689d	PAR-CLIP	20371350
MIRT550716	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT550715	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT550714	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT550713	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT550712	hsa-miR-1273e	PAR-CLIP	20371350
MIRT550711	hsa-miR-665	PAR-CLIP	20371350
MIRT550735	hsa-miR-302f	PAR-CLIP	21572407
MIRT550733	hsa-miR-6888-5p	PAR-CLIP	21572407
MIRT550734	hsa-miR-1247-3p	PAR-CLIP	21572407
MIRT550731	hsa-miR-7162-3p	PAR-CLIP	21572407
MIRT550732	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT550730	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT550729	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT550728	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT550727	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT051702	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT550726	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT550725	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT550724	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT550722	hsa-miR-4458	PAR-CLIP	21572407
MIRT550723	hsa-miR-4500	PAR-CLIP	21572407
MIRT550721	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT550720	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT550719	hsa-miR-6134	PAR-CLIP	21572407
MIRT550718	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT550717	hsa-miR-3689d	PAR-CLIP	21572407
MIRT550716	hsa-miR-6851-5p	PAR-CLIP	21572407
MIRT550715	hsa-miR-6799-5p	PAR-CLIP	21572407
MIRT550714	hsa-miR-6880-5p	PAR-CLIP	21572407
MIRT550713	hsa-miR-7847-3p	PAR-CLIP	21572407
MIRT550712	hsa-miR-1273e	PAR-CLIP	21572407
MIRT550711	hsa-miR-665	PAR-CLIP	21572407
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	27418678
MIRT671719	hsa-miR-149-3p	HITS-CLIP	27418678
MIRT671721	hsa-miR-24-3p	HITS-CLIP	27418678
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	27418678
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	27418678
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	27418678
MIRT671694	hsa-miR-3122	HITS-CLIP	27418678
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	27418678
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	27418678
MIRT671698	hsa-miR-3689c	HITS-CLIP	27418678
MIRT671726	hsa-miR-383-3p	HITS-CLIP	27418678
MIRT671693	hsa-miR-3913-5p	HITS-CLIP	27418678
MIRT671722	hsa-miR-4284	HITS-CLIP	27418678
MIRT671695	hsa-miR-450a-1-3p	HITS-CLIP	27418678
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	27418678
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	27418678
MIRT671723	hsa-miR-4746-3p	HITS-CLIP	27418678
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	27418678
MIRT671691	hsa-miR-6513-5p	HITS-CLIP	27418678
MIRT671707	hsa-miR-6748-5p	HITS-CLIP	27418678
MIRT671709	hsa-miR-6769a-5p	HITS-CLIP	27418678
MIRT671708	hsa-miR-6769b-5p	HITS-CLIP	27418678
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	27418678
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	27418678
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	27418678
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	27418678
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	27418678
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	27418678
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	27418678
MIRT671706	hsa-miR-7977	HITS-CLIP	27418678
MIRT671692	hsa-miR-887-5p	HITS-CLIP	27418678
MIRT722291	hsa-miR-1226-3p	HITS-CLIP	19536157
MIRT722290	hsa-miR-4768-3p	HITS-CLIP	19536157
MIRT722289	hsa-miR-4459	HITS-CLIP	19536157
MIRT722288	hsa-miR-4433a-3p	HITS-CLIP	19536157
MIRT722287	hsa-miR-6131	HITS-CLIP	19536157
MIRT722286	hsa-miR-6801-5p	HITS-CLIP	19536157
MIRT722285	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT722284	hsa-miR-3692-5p	HITS-CLIP	19536157
MIRT671726	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT671722	hsa-miR-4284	HITS-CLIP	23824327
MIRT671721	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671719	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671709	hsa-miR-6769a-5p	HITS-CLIP	23824327
MIRT671708	hsa-miR-6769b-5p	HITS-CLIP	23824327
MIRT671706	hsa-miR-7977	HITS-CLIP	23824327
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671698	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671695	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT671694	hsa-miR-3122	HITS-CLIP	23824327
MIRT671693	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT671692	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT671691	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT671723	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT671722	hsa-miR-4284	HITS-CLIP	23824327
MIRT671721	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671719	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671698	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671726	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671725	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT671724	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT671723	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT671722	hsa-miR-4284	HITS-CLIP	23824327
MIRT671721	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671720	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671719	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671718	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671717	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671716	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT550715	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671715	hsa-miR-363-5p	HITS-CLIP	23824327
MIRT671714	hsa-miR-6745	HITS-CLIP	23824327
MIRT671713	hsa-miR-6756-5p	HITS-CLIP	23824327
MIRT671712	hsa-miR-6766-5p	HITS-CLIP	23824327
MIRT671711	hsa-miR-1293	HITS-CLIP	23824327
MIRT671710	hsa-miR-4483	HITS-CLIP	23824327
MIRT671709	hsa-miR-6769a-5p	HITS-CLIP	23824327
MIRT671708	hsa-miR-6769b-5p	HITS-CLIP	23824327
MIRT671707	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT671706	hsa-miR-7977	HITS-CLIP	23824327
MIRT671705	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671704	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671703	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671702	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671701	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671700	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671699	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671698	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671697	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671696	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671695	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT671694	hsa-miR-3122	HITS-CLIP	23824327
MIRT671693	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT671692	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT671691	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT610474	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT550735	hsa-miR-302f	PAR-CLIP	20371350
MIRT550733	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT563549	hsa-miR-3929	PAR-CLIP	20371350
MIRT563548	hsa-miR-4419b	PAR-CLIP	20371350
MIRT563547	hsa-miR-4478	PAR-CLIP	20371350
MIRT550734	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT550731	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT550732	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT550730	hsa-let-7a-5p	PAR-CLIP	20371350
MIRT550729	hsa-let-7b-5p	PAR-CLIP	20371350
MIRT550728	hsa-let-7c-5p	PAR-CLIP	20371350
MIRT550727	hsa-let-7d-5p	PAR-CLIP	20371350
MIRT051702	hsa-let-7e-5p	PAR-CLIP	20371350
MIRT550726	hsa-let-7f-5p	PAR-CLIP	20371350
MIRT550725	hsa-let-7g-5p	PAR-CLIP	20371350
MIRT550724	hsa-let-7i-5p	PAR-CLIP	20371350
MIRT550722	hsa-miR-4458	PAR-CLIP	20371350
MIRT550723	hsa-miR-4500	PAR-CLIP	20371350
MIRT550721	hsa-miR-98-5p	PAR-CLIP	20371350
MIRT550720	hsa-miR-202-3p	PAR-CLIP	20371350
MIRT550719	hsa-miR-6134	PAR-CLIP	20371350
MIRT550718	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT550717	hsa-miR-3689d	PAR-CLIP	20371350
MIRT550716	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT550715	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT550714	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT550713	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT550712	hsa-miR-1273e	PAR-CLIP	20371350
MIRT550711	hsa-miR-665	PAR-CLIP	20371350
MIRT550735	hsa-miR-302f	PAR-CLIP	21572407
MIRT550733	hsa-miR-6888-5p	PAR-CLIP	21572407
MIRT550734	hsa-miR-1247-3p	PAR-CLIP	21572407
MIRT550731	hsa-miR-7162-3p	PAR-CLIP	21572407
MIRT550732	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT550730	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT550729	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT550728	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT550727	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT051702	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT550726	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT550725	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT550724	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT550722	hsa-miR-4458	PAR-CLIP	21572407
MIRT550723	hsa-miR-4500	PAR-CLIP	21572407
MIRT550721	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT550720	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT550719	hsa-miR-6134	PAR-CLIP	21572407
MIRT550718	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT550717	hsa-miR-3689d	PAR-CLIP	21572407
MIRT550716	hsa-miR-6851-5p	PAR-CLIP	21572407
MIRT550715	hsa-miR-6799-5p	PAR-CLIP	21572407
MIRT550714	hsa-miR-6880-5p	PAR-CLIP	21572407
MIRT550713	hsa-miR-7847-3p	PAR-CLIP	21572407
MIRT550712	hsa-miR-1273e	PAR-CLIP	21572407
MIRT550711	hsa-miR-665	PAR-CLIP	21572407
MIRT1244616	hsa-miR-1976	CLIP-seq
MIRT1244617	hsa-miR-3121-5p	CLIP-seq
MIRT1244618	hsa-miR-370	CLIP-seq
MIRT1244619	hsa-miR-4257	CLIP-seq
MIRT1244620	hsa-miR-4267	CLIP-seq
MIRT1244621	hsa-miR-4279	CLIP-seq
MIRT2072338	hsa-miR-1273	CLIP-seq
MIRT2072339	hsa-miR-186	CLIP-seq
MIRT2072340	hsa-miR-3683	CLIP-seq
MIRT1244620	hsa-miR-4267	CLIP-seq
MIRT2072341	hsa-miR-556-3p	CLIP-seq
MIRT2072340	hsa-miR-3683	CLIP-seq
MIRT2596187	hsa-miR-1184	CLIP-seq
MIRT2072338	hsa-miR-1273	CLIP-seq
MIRT2596188	hsa-miR-1285	CLIP-seq
MIRT2596189	hsa-miR-1292	CLIP-seq
MIRT2596190	hsa-miR-1301	CLIP-seq
MIRT2596191	hsa-miR-1324	CLIP-seq
MIRT2596192	hsa-miR-1343	CLIP-seq
MIRT2596193	hsa-miR-151-3p	CLIP-seq
MIRT2072339	hsa-miR-186	CLIP-seq
MIRT2596194	hsa-miR-187	CLIP-seq
MIRT2596195	hsa-miR-193a-5p	CLIP-seq
MIRT2596196	hsa-miR-1972	CLIP-seq
MIRT2596197	hsa-miR-2115	CLIP-seq
MIRT2596198	hsa-miR-300	CLIP-seq
MIRT2596199	hsa-miR-3155	CLIP-seq
MIRT2596200	hsa-miR-3155b	CLIP-seq
MIRT2596201	hsa-miR-3187-5p	CLIP-seq
MIRT2596202	hsa-miR-323-5p	CLIP-seq
MIRT2596203	hsa-miR-3622a-3p	CLIP-seq
MIRT2596204	hsa-miR-3622b-3p	CLIP-seq
MIRT2072340	hsa-miR-3683	CLIP-seq
MIRT2596205	hsa-miR-381	CLIP-seq
MIRT2596206	hsa-miR-412	CLIP-seq
MIRT1244620	hsa-miR-4267	CLIP-seq
MIRT2596207	hsa-miR-4292	CLIP-seq
MIRT2596208	hsa-miR-4308	CLIP-seq
MIRT2596209	hsa-miR-4650-5p	CLIP-seq
MIRT2596210	hsa-miR-4660	CLIP-seq
MIRT2596211	hsa-miR-4666-3p	CLIP-seq
MIRT2596212	hsa-miR-4681	CLIP-seq
MIRT2596213	hsa-miR-4738-5p	CLIP-seq
MIRT2596214	hsa-miR-4789-5p	CLIP-seq
MIRT2596215	hsa-miR-4793-3p	CLIP-seq
MIRT2596216	hsa-miR-484	CLIP-seq
MIRT2596217	hsa-miR-5047	CLIP-seq
MIRT2596218	hsa-miR-507	CLIP-seq
MIRT2596219	hsa-miR-508-5p	CLIP-seq
MIRT2596220	hsa-miR-516a-3p	CLIP-seq
MIRT2596221	hsa-miR-557	CLIP-seq
MIRT2596222	hsa-miR-564	CLIP-seq
MIRT2596223	hsa-miR-612	CLIP-seq
MIRT2596224	hsa-miR-766	CLIP-seq
MIRT2596225	hsa-miR-939	CLIP-seq
MIRT2596187	hsa-miR-1184	CLIP-seq
MIRT2072338	hsa-miR-1273	CLIP-seq
MIRT2596188	hsa-miR-1285	CLIP-seq
MIRT2596189	hsa-miR-1292	CLIP-seq
MIRT2596190	hsa-miR-1301	CLIP-seq
MIRT2596191	hsa-miR-1324	CLIP-seq
MIRT2596192	hsa-miR-1343	CLIP-seq
MIRT2596193	hsa-miR-151-3p	CLIP-seq
MIRT2072339	hsa-miR-186	CLIP-seq
MIRT2596195	hsa-miR-193a-5p	CLIP-seq
MIRT2596196	hsa-miR-1972	CLIP-seq
MIRT2596197	hsa-miR-2115	CLIP-seq
MIRT2596198	hsa-miR-300	CLIP-seq
MIRT2596199	hsa-miR-3155	CLIP-seq
MIRT2596200	hsa-miR-3155b	CLIP-seq
MIRT2596201	hsa-miR-3187-5p	CLIP-seq
MIRT2596202	hsa-miR-323-5p	CLIP-seq
MIRT2596203	hsa-miR-3622a-3p	CLIP-seq
MIRT2596204	hsa-miR-3622b-3p	CLIP-seq
MIRT2072340	hsa-miR-3683	CLIP-seq
MIRT2596205	hsa-miR-381	CLIP-seq
MIRT2596206	hsa-miR-412	CLIP-seq
MIRT1244620	hsa-miR-4267	CLIP-seq
MIRT2596207	hsa-miR-4292	CLIP-seq
MIRT2596208	hsa-miR-4308	CLIP-seq
MIRT2596209	hsa-miR-4650-5p	CLIP-seq
MIRT2596210	hsa-miR-4660	CLIP-seq
MIRT2596211	hsa-miR-4666-3p	CLIP-seq
MIRT2596212	hsa-miR-4681	CLIP-seq
MIRT2596213	hsa-miR-4738-5p	CLIP-seq
MIRT2596214	hsa-miR-4789-5p	CLIP-seq
MIRT2596215	hsa-miR-4793-3p	CLIP-seq
MIRT2596216	hsa-miR-484	CLIP-seq
MIRT2596217	hsa-miR-5047	CLIP-seq
MIRT2596218	hsa-miR-507	CLIP-seq
MIRT2596219	hsa-miR-508-5p	CLIP-seq
MIRT2596220	hsa-miR-516a-3p	CLIP-seq
MIRT2596221	hsa-miR-557	CLIP-seq
MIRT2596222	hsa-miR-564	CLIP-seq
MIRT2596223	hsa-miR-612	CLIP-seq
MIRT2596224	hsa-miR-766	CLIP-seq

Gene ontology (GO)

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
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	32443488
GO:0005743	Component	Mitochondrial inner membrane	IDA	25808372
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IBA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IDA	22354088
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IMP	25808372
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	NAS	32443488
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0017087	Component	Mitochondrial processing peptidase complex	NAS	32443488
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 613036
• HGNC: 18667
• e!Ensembl: 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:

  MAAVVLAATRLLRGSGSWGCSRLRFGPPAYRRFSSGGAYPNIPLSSPLPGVPKPVFATVD
  GQEKFETKVTTLDNGLRVASQNKFGQFCTVGILINSGSRYEAKYLSGIAHFLEKLAFSST
  ARFDSKDEILLTLEKHGGICDCQTSRDTTMYAVSADSKGLDTVVALLADVVLQPRLTDEE
  VEMTRMAVQFELEDLNLRPDPEPLLTEMIHEAAYRENTVGLHRFCPTENVAKINREVLHS
  YLRNYYTPDRMVLAGVGVEHEHLVDCARKYLLGVQPAWGSAEAVDIDRSVAQYTGGIAKL
  ERDMSNVSLGPTPIPELTHIMVGLESCSFLEEDFIPFAVLNMMMGGGGSFSAGGPGKGMF
  SRLYLNVLNRHHWMYNATSYHHSYEDTGLLCIHASADPRQVREMVEIITKEFILMGGTVD
  TVELERAKTQLTSMLMMNLESRPVIFEDVGRQVLATRSRKLPHELCTLIRNVKPEDVKRV
  ASKMLRGKPAVAALGDLTDLPTYEHIQTALSSKDGRLPRTYRLFR

• Sequence length: 525

Pathways

Reactome:

Processing of SMDT1

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive spinocerebellar ataxia 2	Pathogenic; Likely pathogenic	rs753895120, rs753611141, rs869025292, rs869025293, rs534750502, rs1057519454, rs573267388	RCV001663395 RCV000207168 RCV000207255 RCV000207072 RCV003314475 RCV000416418 RCV000416433	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL PTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLINDNESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHRONIC LACTIC ACIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS, NORMAL PRESSURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PMPCA-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	28881646		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10426565		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	9253328		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	10426565, 30049837, 30300539, 9253328		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	9253328		★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	12238639, 17259591		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	36233161	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	12238639, 17259591		★☆☆☆☆ Found in Text Mining only
Autosomal recessive cerebelloparenchymal disorder type 3	Cerebelloparenchymal Disorder	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	25808372	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebellar Diseases	Cerebellar diseases	Pubtator	36233161	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	10426565		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	15681296		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	10426565		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29338930		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	25808372		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29338930		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35803560	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	35803560	Associate	★☆☆☆☆ Found in Text Mining only
Leydig Cell Tumor	Leydig Cell Tumor	BEFREE	9253328		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17259591		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	17259591		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	36233161	Associate	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	30049837, 30300539		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35885985	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	CLINVAR_DG	11020385, 22495024, 25808372, 26657514, 27148589, 9700204		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10426565		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29338930		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy Autosomal Dominant	Optic atrophy	Pubtator	35885985	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	10426565, 30049837, 30300539, 9253328		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	25808372		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 1	Retinitis Pigmentosa	BEFREE	8154871		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Autosomal Recessive 2	Spinocerebellar ataxia	Pubtator	35885985	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Autosomal Recessive 9	Spinocerebellar ataxia	Pubtator	35885985	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	8931575		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	10528257, 25808372, 30617178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	Spinocerebellar Ataxia	UNIPROT_DG	25808372, 26657514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	Spinocerebellar Ataxia	ORPHANET_DG	25808372		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	Spinocerebellar Ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	Spinocerebellar Ataxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations