Reactome: A Curated Pathway Database

MMAA Y207C (R-HSA-3322133)

Species Homo sapiens

Additional Information
External reference name MMAA
External reference id Q8IVH4
Synonyms Methylmalonic aciduria type A protein, mitochondrial ecNumber3.6.-.-/ecNumber, MMAA_HUMAN
Compartment mitochondrial matrix
Other Identifiers 0007100129, 11735204_a_at, 11735205_s_at, 11735206_at, 166785, 236347_at, 239852_at, 242702_at, 242750_at, 2WWW, 51941_at, 76909_at, 81239_at, A_14_P137103, A_33_P3405168, AAI01179, AAI01180, AAN77287, AF524841, AF524842, AF524843, AF524844, AF524845, AF524846, AK126662, BAG54352, BC101178, BC101179, CCDS3766, CH471056, EAX05036, ENSG00000151611, ENSP00000281317, ENST00000281317, EntrezGene:166785, GE648091, GE709980, HGNC:18871, HPA037361, Hs.117747.0.A1_3p_at, Hs.126216.0.A1_3p_at, Hs.27947.0.A1_3p_at, ILMN_1754315, IPR005129, IPR027417, MIM:251100, MIM:607481, MMAA, MMAA-001, NM_172250, NP_758454, OTTHUMP00000220104, PF03308, PH_hs_0022324, R-HSA-1430728, R-HSA-1643685, R-HSA-196741, R-HSA-196849, R-HSA-196854, R-HSA-3296469, R-HSA-3296482, R-HSA-3359475, R-HSA-3359478, R-HSA-535734, R-HSA-556833, R-HSA-5668914, R-HSA-71032, R-HSA-77289, uc003ikh.5, UPI000005032D, XM_011531684, XM_011531685, XP_011529986, XP_011529987
Secondary Identifiers MMAA_HUMAN, B3KX40, Q495G7
Gene Names MMAA
Chain transit peptide:1-65, chain:66-418
This entry is a component of:
hasMember
Reference Genes
Database Identifier
dbSNP Gene 166785
CTD Gene 166785
BioGPS Gene 166785
NCBI Gene 166785
ENSEMBL ENSG00000151611
KEGG Gene 166785
Orphanet 16413
Reference Transcripts
Database Identifier
RefSeq NM_172250
Cross References
Database Identifier
RefSeq NP_758454
DOCK Blaster 2WWW
HMDB_protein HMDBP03093
PRO Q8IVH4
GeneCards Q8IVH4
UCSC human Q8IVH4
Protein Data Bank 2WWW
Diseases
Name Identifier Synonyms
methylmalonic acidemia 14749 [METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A]
ModifiedResidues
Name Coordinate Modification PsiMod Name PsiMod Identifier PsiMod Definition
L-tyrosine 207 replaced with L-cysteine 207 L-tyrosine removal 01649 A protein modification that effectively removes or replaces an L-tyrosine.