Names & Taxonomy

Uniprot ID:
Q9Y4U1
Entry Name:
MMAC_HUMAN
Status:
reviewed
Protein Names:
Methylmalonic aciduria and homocystinuria type C protein
Gene Names:
MMACHC
Gene Names Primary:
MMACHC
Organism:
Homo sapiens (Human)

Structure

Length:
282
Sequence:
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP
Proteomes:
UP000005640

Subcellular location

Subcellular Location:
Cytoplasm

Function

Function:
May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).
Pathway:
Cofactor biosynthesis; adenosylcobalamin biosynthesis.
Cross Reference Drug Bank:
DB00115 DB00200
Gene Ontology Go:
cytosol
mitochondrion
cobalamin binding
cobalamin biosynthetic process
cobalamin metabolic process
small molecule metabolic process
vitamin metabolic process
water-soluble vitamin metabolic process
Gene Ontology Biological Process:
cobalamin biosynthetic process
cobalamin metabolic process
small molecule metabolic process
vitamin metabolic process
water-soluble vitamin metabolic process
Gene Ontology Molecular Function:
cobalamin binding
Gene Ontology Cellular Component:
cytosol
mitochondrion
Keywords:
3D-structure
Cobalamin
Cobalt
Complete proteome
Cytoplasm
Disease mutation
Phosphoprotein
Reference proteome
Interacts With:
Q99707

Publication

PubMed ID:
17974005 16710414 15489334 18669648 19413330 19690332 20068231 21269460 23270877 24275569 16311595 20219402 25809485