Homo sapiens Gene: MMAA

Summary
InnateDB Gene IDBG-39992.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol MMAA
Gene Name methylmalonic aciduria (cobalamin deficiency) cblA type
Synonyms cblA
Species Homo sapiens
Ensembl Gene ENSG00000151611
Encoded Proteins
IDBP-39994 methylmalonic aciduria (cobalamin deficiency) cblA type
IDBP-479041 methylmalonic aciduria (cobalamin deficiency) cblA type
IDBP-602139 methylmalonic aciduria (cobalamin deficiency) cblA type
Entrez Gene
Summary The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4: 146539415-146581187
Strand Forward strand
Band q31.21
Transcripts
ENST00000281317  ENSP00000281317
ENST00000506919 
ENST00000511969  ENSP00000427422
ENST00000503730 
ENST00000541599  ENSP00000442284
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0005525 GTP binding
GO:0017111 nucleoside-triphosphatase activity
Biological Process
GO:0009236 cobalamin biosynthetic process
Cellular Component
GO:0005739 mitochondrion
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000037022 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000012800 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_993 Propionyl-CoA catabolism
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q8IVH4 
TrEMBL D6RIS5 Q495G6
UniProt Splice Variant
Entrez Gene 166785 
UniGene Hs.452864 Hs.599597
RefSeq NM_172250 
HUGO 18871 
OMIM 607481
CCDS CCDS3766 
HPRD 07394
IMGT
EMBL AC093864 AF524841 AF524842 AF524843 AF524844 AF524845 AF524846 AK126662 BC101178 BC101179 BC101180 CH471056
GenPept AAI01179  AAI01180  AAI01181  AAN77287  BAG54352  EAX05036 
ImmGen MMAA (murine) 
RNA Seq Atlas 166785