Reactome: A Curated Pathway Database

MMAA R145* (R-HSA-3322136) [Homo sapiens]

Reference Gene Product
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:607481  MMAA  MMAA-001  NM_172250  NP_758454
 OTTHUMP00000220104  PF03308  PH_hs_0022324  Q495G5  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 MMAA
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-arginine 145 replaced with unknown 145 L-arginine removal 01632 A protein modification that effectively removes or replaces an L-arginine.