MMACHC [The Human Chemical-Genetic Interaction Map Project]

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======= MMACHC =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MMACHC
  * **<color #00a2e8>Official Name</color>**: metabolism of cobalamin associated C
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=25974|25974]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y4U1|Q9Y4U1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MMACHC&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MMACHC|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609831|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810). Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin (PubMed:19801555, PubMed:22642810, PubMed:25809485). Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen (PubMed:19801555). Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives (PubMed:21071249). {ECO:0000269|PubMed:19700356, ECO:0000269|PubMed:19801555, ECO:0000269|PubMed:21071249, ECO:0000269|PubMed:21697092, ECO:0000269|PubMed:22642810, ECO:0000269|PubMed:25809485}.

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|cyanocobalamin reductase (cyanide-eliminating) activity|
|cobalamin biosynthetic process|
|demethylase activity|
|water-soluble vitamin biosynthetic process|
|cobalamin binding|
|glutathione binding|
|vitamin biosynthetic process|
|cobalamin metabolic process|
|tetrapyrrole biosynthetic process|
|FAD binding|
|glutathione metabolic process|
|tetrapyrrole metabolic process|
|demethylation|
|water-soluble vitamin metabolic process|
|oxidoreductase activity|
|vitamin metabolic process|
|cellular modified amino acid metabolic process|
|cofactor biosynthetic process|
|sulfur compound metabolic process|
|cofactor metabolic process|
|drug metabolic process|
|peptide metabolic process|
|small molecule biosynthetic process|
|cellular amide metabolic process|
|protein homodimerization activity|
|oxidation-reduction process|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|organic cyclic compound biosynthetic process|
|organonitrogen compound biosynthetic process|
|cellular nitrogen compound biosynthetic process|
|small molecule metabolic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp501|Methotrexate 0.01μM R08 exp501]]|-2.83|
|[[:results:exp214|2-Deoxy-D-glucose 800μM R05 exp214]]|-2.11|
|[[:results:exp500|LY2090314 0.003μM R08 exp500 no dilution day6]]|-2.11|
|[[:results:exp335|Aminopterin 0.005μM R07 exp335]]|-1.75|
|[[:results:exp372|Ibrutinib 1μM R07 exp372]]|-1.75|
|[[:results:exp148|SB202190 10μM R03 exp148]]|1.85|
|[[:results:exp211|AICAR 240μM R05 exp211]]|5.43|
|[[:results:exp116|AICAR 240μM R03 exp116]]|6.57|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:m:mtr|MTR]]|0.586|
|[[:human genes:s:slc25a32|SLC25A32]]|0.478|
|[[:human genes:m:mtrr|MTRR]]|0.464|
|[[:human genes:m:mthfd1l|MTHFD1L]]|0.456|
|[[:human genes:m:mthfd2|MTHFD2]]|0.455|
|[[:human genes:s:shmt2|SHMT2]]|0.454|
|[[:human genes:a:ak2|AK2]]|0.444|
|[[:human genes:n:nudt2|NUDT2]]|0.43|
|[[:human genes:a:adss|ADSS]]|0.422|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^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|1/75|
|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>**: 10277
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.36 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MMACHC Expression in NALM6 Cells: 6.36'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>