DAR - Bologna Biocomputing Group

Search summary (UniProt accession: Q9UQ90)

Number of enzymes:	1
Number of disease:	2
Number of reactomes:	1
Number of reactions:	3

Search results (UniProt accession: Q9UQ90)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0018155	SPG7	Q9UQ90	3.4.24.-	R-HSA-8949664 R-HSA-8949664 Reactome Name: Processing of SMDT1 See in Reactome	R-HSA-382551 R-HSA-382551 Reactome Name: Transport of small molecules See in Reactome R-HSA-8949215 R-HSA-8949215 Reactome Name: Mitochondrial calcium ion transport See in Reactome	Transport of small molecules	R-HSA-8949649 ( R-HSA-8949664 ) R-HSA-8949649 Reaction Name: PMPCA:PMPCB cleaves the transit peptide of proSMDT1 (proEMRE) See in Reactome R-HSA-8949659 ( R-HSA-8949664 ) R-HSA-8949659 Reaction Name: AFG3L2 (m-AAA protease) degrades SMDT1 that is not assembled in MCU See in Reactome R-HSA-8949661 ( R-HSA-8949664 ) R-HSA-8949661 Reaction Name: C2orf47:AFG3L2 binds the transit peptide of SMDT1 See in Reactome
MONDO:0011803	SPG7	Q9UQ90	3.4.24.-	R-HSA-8949664 R-HSA-8949664 Reactome Name: Processing of SMDT1 See in Reactome	R-HSA-382551 R-HSA-382551 Reactome Name: Transport of small molecules See in Reactome R-HSA-8949215 R-HSA-8949215 Reactome Name: Mitochondrial calcium ion transport See in Reactome	Transport of small molecules	R-HSA-8949649 ( R-HSA-8949664 ) R-HSA-8949649 Reaction Name: PMPCA:PMPCB cleaves the transit peptide of proSMDT1 (proEMRE) See in Reactome R-HSA-8949659 ( R-HSA-8949664 ) R-HSA-8949659 Reaction Name: AFG3L2 (m-AAA protease) degrades SMDT1 that is not assembled in MCU See in Reactome R-HSA-8949661 ( R-HSA-8949664 ) R-HSA-8949661 Reaction Name: C2orf47:AFG3L2 binds the transit peptide of SMDT1 See in Reactome