======= MMAA ======= == Gene Information == * **Official Symbol**: MMAA * **Official Name**: metabolism of cobalamin associated A * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=166785|166785]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8IVH4|Q8IVH4]] * **Interactions**: [[https://thebiogrid.org/search.php?search=MMAA&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MMAA|Open PubMed]] * **OMIM**: [[https://omim.org/entry/607481|Open OMIM]] == Function Summary == * **Entrez 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]. * **UniProt Summary**: GTPase, binds and hydrolyzes GTP (PubMed:28497574, PubMed:20876572). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MUT) and reactivation of the enzyme during catalysis (PubMed:28497574, PubMed:20876572). {ECO:0000269|PubMed:20876572, ECO:0000269|PubMed:28497574}. |ArgK| |cobW| |cobalamin biosynthetic process| |short-chain fatty acid catabolic process| |water-soluble vitamin biosynthetic process| |vitamin biosynthetic process| |short-chain fatty acid metabolic process| |cobalamin metabolic process| |tetrapyrrole biosynthetic process| |tetrapyrrole metabolic process| |water-soluble vitamin metabolic process| |fatty acid catabolic process| |monocarboxylic acid catabolic process| |vitamin metabolic process| |cellular lipid catabolic process| |cofactor biosynthetic process| |organic acid catabolic process| |carboxylic acid catabolic process| |lipid catabolic process| |fatty acid metabolic process| |GTPase activity| |mitochondrial matrix| |GTP binding| |small molecule catabolic process| |cofactor metabolic process| |drug metabolic process| |monocarboxylic acid metabolic process| |small molecule biosynthetic process| |protein homodimerization activity| |carboxylic acid metabolic process| |cellular lipid metabolic process| |oxoacid metabolic process| |organic acid metabolic process| |identical protein binding| |heterocycle biosynthetic process| |aromatic compound biosynthetic process| |lipid metabolic process| |organic cyclic compound biosynthetic process| |organonitrogen compound biosynthetic process| |cellular nitrogen compound biosynthetic process| |small molecule metabolic process| |organic substance catabolic process| |cellular catabolic process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp5|Alpha-Amanitin 0.5μM R00 exp5]]|1.77| |[[:results:exp212|Phenformin 20μM R05 exp212]]|1.82| |[[:results:exp242|Radicicol 0.16μM R05 exp242]]|1.93| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 15790 * **Expression level (log2 read counts)**: 3.24 {{:chemogenomics:nalm6 dist.png?nolink |}}