MMAA [The Human Chemical-Genetic Interaction Map Project]

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======= MMAA =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MMAA
  * **<color #00a2e8>Official Name</color>**: metabolism of cobalamin associated A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=166785|166785]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8IVH4|Q8IVH4]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MMAA&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MMAA|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607481|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|ArgK|
|cobW|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|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|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^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|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 15790
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.24 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MMAA Expression in NALM6 Cells: 3.24'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>