======= ALDH18A1 ======= == Gene Information == * **Official Symbol**: ALDH18A1 * **Official Name**: aldehyde dehydrogenase 18 family member A1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5832|5832]] * **UniProt**: [[https://www.uniprot.org/uniprot/P54886|P54886]] * **Interactions**: [[https://thebiogrid.org/search.php?search=ALDH18A1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ALDH18A1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/138250|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]. * **UniProt Summary**: N/A |Aldedh| |AA kinase| |glutamate-5-semialdehyde dehydrogenase activity| |ornithine biosynthetic process| |glutamate 5-kinase activity| |citrulline biosynthetic process| |proline biosynthetic process| |citrulline metabolic process| |L-proline biosynthetic process| |ornithine metabolic process| |proline metabolic process| |glutamine family amino acid biosynthetic process| |glutamate metabolic process| |alpha-amino acid biosynthetic process| |glutamine family amino acid metabolic process| |cellular amino acid biosynthetic process| |dicarboxylic acid metabolic process| |alpha-amino acid metabolic process| |carboxylic acid biosynthetic process| |organic acid biosynthetic process| |cellular amino acid metabolic process| |mitochondrial inner membrane| |drug metabolic process| |small molecule biosynthetic process| |carboxylic acid metabolic process| |oxidation-reduction process| |oxoacid metabolic process| |organic acid metabolic process| |identical protein binding| |heterocycle biosynthetic process| |mitochondrion| |phosphorylation| |organic cyclic compound biosynthetic process| |RNA binding| |organonitrogen compound biosynthetic process| |ATP binding| |small molecule metabolic process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp169|BH1 1μM R04 exp169]]|-2.72| |[[:results:exp187|proTAME 5μM R04 exp187]]|-2.37| |[[:results:exp99|NFN1 0.4μM R03 exp99]]|-2.28| |[[:results:exp261|ABT-702 5μM R06 exp261]]|-2.17| |[[:results:exp319|ABT-702 5μM plus Dimethyloxaloylglycine 11μM R07 exp319]]|-2.1| |[[:results:exp232|Epothilone-D 0.004 to 0.006μM on day4 R05 exp232]]|-2.09| |[[:results:exp185|L-BMAA 500 to 750μM on day4 R04 exp185]]|-2.01| |[[:results:exp140|Nicotinate 1000μM R03 exp140]]|-1.99| |[[:results:exp247|UM0130462 0.025 to 0.035μM day4 R05 exp247]]|-1.98| |[[:results:exp220|BAY-598 4μM R05 exp220]]|-1.93| |[[:results:exp73|LJH685 5μM R02 exp73]]|-1.93| |[[:results:exp122|Golgicide-A 4μM R03 exp122]]|-1.92| |[[:results:exp5|Alpha-Amanitin 0.5μM R00 exp5]]|-1.88| |[[:results:exp219|A-395N 10μM R05 exp219]]|-1.87| |[[:results:exp100|NFN1 1μM R03 exp100]]|-1.84| |[[:results:exp37|Wortmannin 0.5μM R00 exp37]]|-1.83| |[[:results:exp170|Metformin 100 to 150μM on day4 R04 exp170]]|-1.77| |[[:results:exp115|A-366 10μM R03 exp115]]|-1.76| |[[:results:exp156|UNC2400 2μM R03 exp156]]|-1.74| |[[:results:exp536|Vitamin-D3 40μM R08 exp536]]|1.71| |[[:results:exp320|ABT-702 5μM plus CoCl2 18μM R07 exp320]]|1.73| |[[:results:exp85|UM0129480 7μM R02 exp85]]|1.73| |[[:results:exp463|Caffeine 2600μM R08 exp463]]|1.74| |[[:results:exp217|Mdivi-1 15μM R05 exp217]]|1.74| |[[:results:exp224|CB-839 10μM R05 exp224]]|1.76| |[[:results:exp439|QNZ 0.01μM R08 exp439]]|1.76| |[[:results:exp535|Trimetrexate 0.03μM R08 exp535]]|1.76| |[[:results:exp445|∆-9-Tetrahydrocannabinol 30μM R08 exp445]]|1.8| |[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|1.86| |[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|1.89| |[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|1.93| |[[:results:exp290|LLY-283 2.6μM R06 exp290]]|1.96| |[[:results:exp459|Bleomycin 5μM R08 exp459]]|2.01| |[[:results:exp451|Atovaquone 15μM R08 exp451]]|2.02| |[[:results:exp499|LY2090314 0.003μM R08 exp499]]|2.03| |[[:results:exp526|Sulforaphane 9μM R08 exp526 no dilution day6]]|2.06| |[[:results:exp448|Ammonium tetrathiomolybdate 10μM R08 exp448]]|2.09| |[[:results:exp21|MLN-4924 0.2μM R00 exp21]]|2.11| |[[:results:exp65|Mubritinib 0.2μM R02 exp65]]|2.12| |[[:results:exp431|Rotenone 0.07μM R08 exp431]]|2.12| |[[:results:exp126|GSK461364A 0.1μM R03 exp126]]|2.13| |[[:results:exp96|BI-2536 0.02μM R03 exp96]]|2.24| |[[:results:exp460|BML-284 0.09μM R08 exp460]]|2.25| |[[:results:exp359|FK-506 30μM R07 exp359]]|2.26| |[[:results:exp470|Chloroquine 32μM R08 exp470]]|2.36| |[[:results:exp513|ONC212 0.15μM R08 exp513]]|2.37| |[[:results:exp500|LY2090314 0.003μM R08 exp500 no dilution day6]]|2.79| |[[:results:exp434|Vemurafenib 6.6μM R08 exp434]]|2.85| |[[:results:exp106|UM131593 0.2μM R03 exp106]]|3.66| ^Gene^Correlation^ |[[:human genes:y:yars2|YARS2]]|0.545| |[[:human genes:s:sec62|SEC62]]|0.505| |[[:human genes:t:trmt61a|TRMT61A]]|0.493| |[[:human genes:l:lars2|LARS2]]|0.46| |[[:human genes:b:bcs1l|BCS1L]]|0.459| |[[:human genes:r:rnaseh1|RNASEH1]]|0.457| |[[:human genes:p:pars2|PARS2]]|0.455| |[[:human genes:m:mrps6|MRPS6]]|0.455| |[[:human genes:m:mrpl23|MRPL23]]|0.45| |[[:human genes:m:mrps26|MRPS26]]|0.449| |[[:human genes:d:dhrsx|DHRSX]]|0.449| |[[:human genes:e:ears2|EARS2]]|0.447| |[[:human genes:t:tars2|TARS2]]|0.447| |[[:human genes:t:trmt10a|TRMT10A]]|0.444| |[[:human genes:c:c17orf89|C17orf89]]|0.443| |[[:human genes:n:nars2|NARS2]]|0.443| |[[:human genes:v:vars2|VARS2]]|0.443| |[[:human genes:s:selrc1|SELRC1]]|0.431| |[[:human genes:d:dap3|DAP3]]|0.429| |[[:human genes:q:qrsl1|QRSL1]]|0.429| |[[:human genes:d:dnlz|DNLZ]]|0.428| |[[:human genes:m:mrps5|MRPS5]]|0.426| |[[:human genes:t:tmem242|TMEM242]]|0.421| |[[:human genes:c:c12orf65|C12orf65]]|0.418| |[[:human genes:w:wars2|WARS2]]|0.418| |[[:human genes:s:slc7a1|SLC7A1]]|0.418| |[[:human genes:p:pitrm1|PITRM1]]|0.417| |[[:human genes:h:hsd17b10|HSD17B10]]|0.413| |[[:human genes:m:mrp63|MRP63]]|0.412| |[[:human genes:n:ndufaf7|NDUFAF7]]|0.412| |[[:human genes:s:sco2|SCO2]]|0.411| |[[:human genes:f:fh|FH]]|0.411| |[[:human genes:d:dars2|DARS2]]|0.411| |[[:human genes:m:mrpl21|MRPL21]]|0.41| |[[:human genes:p:pet112|PET112]]|0.41| |[[:human genes:p:pmvk|PMVK]]|0.409| |[[:human genes:r:rpusd4|RPUSD4]]|0.407| |[[:human genes:p:polg|POLG]]|0.406| |[[:human genes:k:kiaa0391|KIAA0391]]|0.406| |[[:human genes:g:gtpbp10|GTPBP10]]|0.406| |[[:human genes:f:ftsj2|FTSJ2]]|0.403| |[[:human genes:m:mtrf1l|MTRF1L]]|0.4| Global Fraction of Cell Lines Where Essential: 17/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|1/28| |bone|0/26| |breast|3/33| |central nervous system|0/56| |cervix|1/4| |colorectal|1/17| |esophagus|0/13| |fibroblast|0/1| |gastric|1/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|2/16| |ovary|2/26| |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|2/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 4911 * **Expression level (log2 read counts)**: 8.4 {{:chemogenomics:nalm6 dist.png?nolink |}}