Reactome: A Curated Pathway Database

MMAA K88Ifs*9

Stable Identifier
R-HSA-3322147
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Methylmalonic aciduria type A protein, mitochondrial ecNumber3.6.-.-/ecNumber, MMAA_HUMAN, MMAA
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
MMAA
Chain
transit peptide:1-65, chain:66-418
Reference Genes
Reference Transcript
Other Identifiers
 0007100129  11735204_a_at  11735205_s_at  11735206_at  166785
 16971195  236347_at  239852_at  242702_at  242750_at
 2746165  2746166  2746167  2746168  2746169
 2746172  2746173  2746176  2746177  2746178
 2746179  2746180  2746182  2WWW  3277600
 37361  51941_at  76909_at  8097670  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  GE648091  GE709980  GO:0000166  GO:0003674
 GO:0003924  GO:0005525  GO:0005575  GO:0005622  GO:0005623
 GO:0005737  GO:0005739  GO:0005759  GO:0006629  GO:0008150
 GO:0009056  GO:0009058  GO:0009235  GO:0009236  GO:0016787
 GO:0019626  GO:0034641  GO:0043167  GO:0043226  GO:0044281
 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-201  NCBI Gene:166785  NM_172250  NP_758454
 PF03308  PH_hs_0022324  Q495G5  TC04000714.hg  TC04002245.hg
 uc003ikh.5  UPI000005032D  XM_011531684  XM_011531685  XP_011529986
 XP_011529987
Participant Of
Other forms of this molecule
Modified Residues
Name Coordinate Modification PsiMod
Replacement of residues 88 to 95 by INLNFILV
Disease
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
Cross References
RefSeq
UCSC human
GeneCards
DOCK Blaster
PRO
HMDB_protein
Protein Data Bank