======= ADSL ======= == Gene Information == * **Official Symbol**: ADSL * **Official Name**: adenylosuccinate lyase * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=158|158]] * **UniProt**: [[https://www.uniprot.org/uniprot/P30566|P30566]] * **Interactions**: [[https://thebiogrid.org/search.php?search=ADSL&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ADSL|Open PubMed]] * **OMIM**: [[https://omim.org/entry/608222|Open OMIM]] == Function Summary == * **Entrez Summary**: The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. * **UniProt Summary**: Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate. {ECO:0000269|PubMed:10888601}. |ADSL C| |Lyase 1| |(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity| |N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity| |de novo AMP biosynthetic process| |AMP biosynthetic process| |de novo IMP biosynthetic process| |IMP biosynthetic process| |IMP metabolic process| |AMP metabolic process| |purine nucleoside monophosphate biosynthetic process| |purine ribonucleoside monophosphate biosynthetic process| |response to muscle activity| |ribonucleoside monophosphate biosynthetic process| |purine ribonucleoside monophosphate metabolic process| |purine nucleoside monophosphate metabolic process| |nucleoside monophosphate biosynthetic process| |ribonucleoside monophosphate metabolic process| |response to activity| |nucleoside monophosphate metabolic process| |aerobic respiration| |purine ribonucleotide biosynthetic process| |protein tetramerization| |purine nucleotide biosynthetic process| |ribonucleotide biosynthetic process| |cellular respiration| |ribose phosphate biosynthetic process| |purine-containing compound biosynthetic process| |response to starvation| |response to nutrient| |energy derivation by oxidation of organic compounds| |nucleotide biosynthetic process| |nucleoside phosphate biosynthetic process| |purine ribonucleotide metabolic process| |ribonucleotide metabolic process| |purine nucleotide metabolic process| |ribose phosphate metabolic process| |response to hypoxia| |response to decreased oxygen levels| |purine-containing compound metabolic process| |response to oxygen levels| |generation of precursor metabolites and energy| |nucleotide metabolic process| |nucleoside phosphate metabolic process| |response to nutrient levels| |drug metabolic process| |protein complex oligomerization| |response to extracellular stimulus| |organophosphate biosynthetic process| |nucleobase-containing small molecule metabolic process| |carbohydrate derivative biosynthetic process| |organophosphate metabolic process| |oxidation-reduction process| |carbohydrate derivative metabolic process| |nucleobase-containing compound biosynthetic process| |response to abiotic stimulus| |heterocycle biosynthetic process| |aromatic compound biosynthetic process| |organic cyclic compound biosynthetic process| |organonitrogen compound biosynthetic process| |protein-containing complex assembly| |cellular nitrogen compound biosynthetic process| |small molecule metabolic process| |protein-containing complex subunit organization| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp300|VE-822 0.04μM R06 exp300]]|-2.59| |[[:results:exp286|HMS-I2 1μM R06 exp286]]|-2.58| |[[:results:exp222|Betulinic acid 10 to 15μM on day4 R05 exp222]]|-2.57| |[[:results:exp245|UM0011500 5μM R05 exp245]]|-2.57| |[[:results:exp235|Geldanamycin 0.01μM R05 exp235]]|-2.34| |[[:results:exp483|FTY720 3μM R08 exp483]]|-2.29| |[[:results:exp482|Fas-L 44ng/ml R08 exp482]]|-2.25| |[[:results:exp363|GSK-J4 1-1.25μM to day4 R07 exp363]]|-2.24| |[[:results:exp356|Docosahexaenoic-acid 50μM R07 exp356]]|-2.23| |[[:results:exp177|Apcin 25μM plus proTAME 2μM R04 exp177]]|-2.16| |[[:results:exp198|Etoposide 0.1μM R05 exp198]]|-2.16| |[[:results:exp438|NN-Diethyl-meta-toluamide 500μM R08 exp438]]|-2.14| |[[:results:exp278|CVT-10216 0.1μM R06 exp278]]|-2.12| |[[:results:exp453|B02 10μM R08 exp453]]|-2.06| |[[:results:exp217|Mdivi-1 15μM R05 exp217]]|-2.06| |[[:results:exp191|Hypoxia 5%O2 R04 exp191]]|-2.02| |[[:results:exp335|Aminopterin 0.005μM R07 exp335]]|-2.02| |[[:results:exp40|2-Methoxyestradiol 0.2μM R01 exp40]]|-2| |[[:results:exp347|Cyclosporin-A 0.8μM R07 exp347]]|-1.97| |[[:results:exp319|ABT-702 5μM plus Dimethyloxaloylglycine 11μM R07 exp319]]|-1.96| |[[:results:exp372|Ibrutinib 1μM R07 exp372]]|-1.96| |[[:results:exp442|Ibrutinib 10μM R08 exp442]]|-1.94| |[[:results:exp170|Metformin 100 to 150μM on day4 R04 exp170]]|-1.94| |[[:results:exp415|Trichostatin-A 0.06μM R07 exp415]]|-1.94| |[[:results:exp538|ZLN024 50μM R08 exp538]]|-1.86| |[[:results:exp332|Adefovir 20μM R07 exp332]]|-1.85| |[[:results:exp331|A-769662 20μM R07 exp331]]|-1.82| |[[:results:exp236|GSK2606414 1μM R05 exp236]]|-1.81| |[[:results:exp341|BRD2 inhibitor II 20μM R07 exp341]]|-1.78| |[[:results:exp330|5-Azacytidine 2μM R07 exp330]]|-1.77| |[[:results:exp425|Beta-Estradiol 0.55μM R07 exp425]]|-1.76| |[[:results:exp227|Cryptotanshinone 12μM R05 exp227]]|-1.74| |[[:results:exp233|EPZ-5676 30μM R05 exp233]]|-1.74| |[[:results:exp230|Epigallocatechin gallate 20μM R05 exp230]]|-1.73| |[[:results:exp260|ABT-702 0.1μM R06 exp260]]|-1.7| |[[:results:exp314|Dimethyloxaloylglycine 11μM R07 exp314]]|-1.7| |[[:results:exp499|LY2090314 0.003μM R08 exp499]]|-1.7| |[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|1.71| |[[:results:exp98|BI-6727 0.04μM R03 exp98]]|1.72| |[[:results:exp466|Cannabidiol 20μM R08 exp466]]|1.74| |[[:results:exp126|GSK461364A 0.1μM R03 exp126]]|1.74| |[[:results:exp503|Mitomycin-C 0.06μM R08 exp503]]|1.83| |[[:results:exp527|Tanespimycin 14μM R08 exp527]]|1.84| |[[:results:exp487|Hinokiflavone 12μM R08 exp487]]|1.88| |[[:results:exp85|UM0129480 7μM R02 exp85]]|1.9| |[[:results:exp211|AICAR 240μM R05 exp211]]|1.91| |[[:results:exp199|Etoposide 0.3μM R05 exp199]]|1.96| |[[:results:exp448|Ammonium tetrathiomolybdate 10μM R08 exp448]]|2.16| |[[:results:exp451|Atovaquone 15μM R08 exp451]]|2.17| ^Gene^Correlation^ |[[:human genes:t:thg1l|THG1L]]|0.676| |[[:human genes:g:gmppb|GMPPB]]|0.658| |[[:human genes:a:alg1|ALG1]]|0.633| |[[:human genes:r:rpp21|RPP21]]|0.627| |[[:human genes:d:dpagt1|DPAGT1]]|0.613| |[[:human genes:r:rtcb|RTCB]]|0.609| |[[:human genes:a:atxn10|ATXN10]]|0.606| |[[:human genes:r:rnmt|RNMT]]|0.589| |[[:human genes:t:triap1|TRIAP1]]|0.581| |[[:human genes:p:pmm2|PMM2]]|0.578| |[[:human genes:s:srp14|SRP14]]|0.574| |[[:human genes:n:nae1|NAE1]]|0.572| |[[:human genes:u:uap1|UAP1]]|0.569| |[[:human genes:m:med4|MED4]]|0.567| |[[:human genes:m:med16|MED16]]|0.562| |[[:human genes:r:rptor|RPTOR]]|0.561| |[[:human genes:a:alg13|ALG13]]|0.554| |[[:human genes:u:uhrf1|UHRF1]]|0.545| |[[:human genes:u:utp23|UTP23]]|0.542| |[[:human genes:g:gfpt1|GFPT1]]|0.542| |[[:human genes:y:yars|YARS]]|0.541| |[[:human genes:r:rpe|RPE]]|0.54| |[[:human genes:u:uxt|UXT]]|0.539| |[[:human genes:g:gemin8|GEMIN8]]|0.537| |[[:human genes:t:telo2|TELO2]]|0.534| |[[:human genes:s:slc25a19|SLC25A19]]|0.529| |[[:human genes:g:gnb1l|GNB1L]]|0.528| |[[:human genes:v:vezt|VEZT]]|0.527| |[[:human genes:h:hspd1|HSPD1]]|0.526| |[[:human genes:e:eny2|ENY2]]|0.523| |[[:human genes:e:eprs|EPRS]]|0.523| |[[:human genes:d:dr1|DR1]]|0.522| |[[:human genes:f:fen1|FEN1]]|0.521| |[[:human genes:t:txnl4b|TXNL4B]]|0.521| |[[:human genes:e:exoc4|EXOC4]]|0.52| |[[:human genes:t:tsen54|TSEN54]]|0.519| |[[:human genes:p:ppp4c|PPP4C]]|0.519| |[[:human genes:z:zrsr2|ZRSR2]]|0.519| |[[:human genes:a:atp5j|ATP5J]]|0.519| |[[:human genes:d:dolk|DOLK]]|0.518| |[[:human genes:t:tti2|TTI2]]|0.518| |[[:human genes:d:dohh|DOHH]]|0.517| |[[:human genes:u:urm1|URM1]]|0.517| |[[:human genes:s:ssb|SSB]]|0.517| |[[:human genes:d:dhps|DHPS]]|0.512| |[[:human genes:p:polr3h|POLR3H]]|0.511| |[[:human genes:e:elac2|ELAC2]]|0.51| |[[:human genes:d:ddx20|DDX20]]|0.507| |[[:human genes:r:rad1|RAD1]]|0.506| |[[:human genes:t:tprkb|TPRKB]]|0.505| |[[:human genes:a:atp5o|ATP5O]]|0.504| |[[:human genes:n:naf1|NAF1]]|0.504| |[[:human genes:t:tti1|TTI1]]|0.503| |[[:human genes:e:eif3f|EIF3F]]|0.5| |[[:human genes:g:gemin6|GEMIN6]]|0.5| |[[:human genes:p:pelo|PELO]]|0.499| |[[:human genes:g:gtf3c3|GTF3C3]]|0.497| |[[:human genes:t:trmt5|TRMT5]]|0.496| |[[:human genes:e:eif4e|EIF4E]]|0.496| |[[:human genes:g:gtf3c2|GTF3C2]]|0.495| |[[:human genes:o:osgep|OSGEP]]|0.495| |[[:human genes:r:rpia|RPIA]]|0.495| |[[:human genes:a:atp5b|ATP5B]]|0.493| |[[:human genes:a:atic|ATIC]]|0.492| |[[:human genes:p:ppp6c|PPP6C]]|0.491| |[[:human genes:t:tpk1|TPK1]]|0.49| |[[:human genes:f:fnta|FNTA]]|0.49| |[[:human genes:t:tgs1|TGS1]]|0.487| |[[:human genes:c:chchd4|CHCHD4]]|0.487| |[[:human genes:t:ten1|TEN1]]|0.487| |[[:human genes:r:rabggtb|RABGGTB]]|0.487| |[[:human genes:h:haus8|HAUS8]]|0.486| |[[:human genes:u:uba3|UBA3]]|0.485| |[[:human genes:p:ppcs|PPCS]]|0.483| |[[:human genes:t:thoc3|THOC3]]|0.48| |[[:human genes:c:cep57|CEP57]]|0.477| |[[:human genes:g:gtf3c6|GTF3C6]]|0.476| |[[:human genes:f:fh|FH]]|0.475| |[[:human genes:s:sec61g|SEC61G]]|0.474| |[[:human genes:a:atp5a1|ATP5A1]]|0.474| |[[:human genes:t:trnt1|TRNT1]]|0.474| |[[:human genes:g:gemin7|GEMIN7]]|0.473| |[[:human genes:s:slc25a26|SLC25A26]]|0.472| |[[:human genes:t:tbca|TBCA]]|0.468| |[[:human genes:l:lamtor5|LAMTOR5]]|0.466| |[[:human genes:c:c15orf41|C15orf41]]|0.465| |[[:human genes:o:oraov1|ORAOV1]]|0.464| |[[:human genes:b:bap1|BAP1]]|0.463| |[[:human genes:e:exoc3|EXOC3]]|0.461| |[[:human genes:c:cct7|CCT7]]|0.461| |[[:human genes:c:ccdc101|CCDC101]]|0.46| |[[:human genes:r:rad50|RAD50]]|0.458| |[[:human genes:v:vrk1|VRK1]]|0.457| |[[:human genes:g:gtf3c4|GTF3C4]]|0.454| |[[:human genes:e:elp3|ELP3]]|0.452| |[[:human genes:r:rfk|RFK]]|0.452| |[[:human genes:u:ube2g2|UBE2G2]]|0.451| |[[:human genes:n:naa20|NAA20]]|0.451| |[[:human genes:d:ddx55|DDX55]]|0.449| |[[:human genes:v:vhl|VHL]]|0.449| |[[:human genes:a:alg14|ALG14]]|0.449| |[[:human genes:e:ercc2|ERCC2]]|0.448| |[[:human genes:k:kdm8|KDM8]]|0.447| |[[:human genes:p:ppa2|PPA2]]|0.447| |[[:human genes:a:alg2|ALG2]]|0.446| |[[:human genes:u:uqcrc2|UQCRC2]]|0.446| |[[:human genes:s:supv3l1|SUPV3L1]]|0.446| |[[:human genes:e:eno1|ENO1]]|0.445| |[[:human genes:d:dad1|DAD1]]|0.444| |[[:human genes:a:aasdhppt|AASDHPPT]]|0.444| |[[:human genes:a:alg6|ALG6]]|0.443| |[[:human genes:p:paxip1|PAXIP1]]|0.442| |[[:human genes:t:tamm41|TAMM41]]|0.442| |[[:human genes:c:casp9|CASP9]]|0.44| |[[:human genes:m:msto1|MSTO1]]|0.439| |[[:human genes:e:elp2|ELP2]]|0.438| |[[:human genes:g:gpn2|GPN2]]|0.438| |[[:human genes:d:dld|DLD]]|0.437| |[[:human genes:n:nars|NARS]]|0.437| |[[:human genes:d:dicer1|DICER1]]|0.437| |[[:human genes:a:aars|AARS]]|0.435| |[[:human genes:w:wdr92|WDR92]]|0.435| |[[:human genes:d:dctn6|DCTN6]]|0.434| |[[:human genes:h:hccs|HCCS]]|0.433| |[[:human genes:l:lsm11|LSM11]]|0.433| |[[:human genes:e:eftud1|EFTUD1]]|0.433| |[[:human genes:n:nsmce1|NSMCE1]]|0.432| |[[:human genes:r:rft1|RFT1]]|0.429| |[[:human genes:p:pdss1|PDSS1]]|0.429| |[[:human genes:m:mapk14|MAPK14]]|0.429| |[[:human genes:c:c21orf59|C21orf59]]|0.428| |[[:human genes:g:gemin5|GEMIN5]]|0.428| |[[:human genes:a:atm|ATM]]|0.427| |[[:human genes:m:mllt1|MLLT1]]|0.427| |[[:human genes:a:alg5|ALG5]]|0.425| |[[:human genes:k:kctd5|KCTD5]]|0.424| |[[:human genes:c:crcp|CRCP]]|0.423| |[[:human genes:o:oip5|OIP5]]|0.423| |[[:human genes:a:atrx|ATRX]]|0.422| |[[:human genes:s:sec62|SEC62]]|0.422| |[[:human genes:l:lsm10|LSM10]]|0.422| |[[:human genes:c:csnk2b|CSNK2B]]|0.421| |[[:human genes:b:bub3|BUB3]]|0.42| |[[:human genes:t:timm13|TIMM13]]|0.42| |[[:human genes:w:wdr82|WDR82]]|0.42| |[[:human genes:t:taf1a|TAF1A]]|0.419| |[[:human genes:m:mtor|MTOR]]|0.418| |[[:human genes:p:pam16|PAM16]]|0.418| |[[:human genes:c:cox5a|COX5A]]|0.417| |[[:human genes:a:atp5f1|ATP5F1]]|0.417| |[[:human genes:c:c17orf89|C17orf89]]|0.416| |[[:human genes:z:znhit1|ZNHIT1]]|0.416| |[[:human genes:r:rbmx2|RBMX2]]|0.416| |[[:human genes:p:pggt1b|PGGT1B]]|0.416| |[[:human genes:p:ppp2r3c|PPP2R3C]]|0.416| |[[:human genes:t:ttc4|TTC4]]|0.415| |[[:human genes:t:thoc6|THOC6]]|0.415| |[[:human genes:w:wdr59|WDR59]]|0.415| |[[:human genes:t:timm22|TIMM22]]|0.414| |[[:human genes:t:tmem242|TMEM242]]|0.414| |[[:human genes:g:gtf2a2|GTF2A2]]|0.413| |[[:human genes:t:tsen34|TSEN34]]|0.412| |[[:human genes:s:seh1l|SEH1L]]|0.412| |[[:human genes:m:mis18a|MIS18A]]|0.41| |[[:human genes:n:nbn|NBN]]|0.41| |[[:human genes:s:snapc5|SNAPC5]]|0.41| |[[:human genes:p:pgm3|PGM3]]|0.41| |[[:human genes:x:xrcc3|XRCC3]]|0.41| |[[:human genes:a:atp5h|ATP5H]]|0.41| |[[:human genes:t:tbcb|TBCB]]|0.409| |[[:human genes:z:zcrb1|ZCRB1]]|0.408| |[[:human genes:x:xrcc2|XRCC2]]|0.408| |[[:human genes:b:bcs1l|BCS1L]]|0.408| |[[:human genes:l:lamtor4|LAMTOR4]]|0.408| |[[:human genes:b:bak1|BAK1]]|0.407| |[[:human genes:c:cbfb|CBFB]]|0.406| |[[:human genes:t:tmem41b|TMEM41B]]|0.405| |[[:human genes:c:ciao1|CIAO1]]|0.405| |[[:human genes:d:dpf2|DPF2]]|0.405| |[[:human genes:t:tkt|TKT]]|0.404| |[[:human genes:c:cdipt|CDIPT]]|0.403| |[[:human genes:w:wdr24|WDR24]]|0.403| |[[:human genes:r:romo1|ROMO1]]|0.403| |[[:human genes:t:tbcd|TBCD]]|0.401| |[[:human genes:m:mrps14|MRPS14]]|0.401| |[[:human genes:s:sgol1|SGOL1]]|0.401| |[[:human genes:t:trmt10a|TRMT10A]]|0.401| |[[:human genes:s:spcs2|SPCS2]]|0.401| |[[:human genes:u:ube2m|UBE2M]]|0.4| |[[:human genes:c:c14orf166|C14orf166]]|0.4| |[[:human genes:k:kif14|KIF14]]|0.4| Global Fraction of Cell Lines Where Essential: 407/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|17/28| |blood|27/28| |bone|11/26| |breast|28/33| |central nervous system|13/56| |cervix|3/4| |colorectal|12/17| |esophagus|8/13| |fibroblast|0/1| |gastric|10/16| |kidney|9/21| |liver|6/20| |lung|41/75| |lymphocyte|12/16| |ovary|7/26| |pancreas|19/24| |peripheral nervous system|4/16| |plasma cell|13/15| |prostate|0/1| |skin|19/24| |soft tissue|1/9| |thyroid|1/2| |upper aerodigestive|7/22| |urinary tract|15/29| |uterus|2/5| == Essentiality in NALM6 == * **Essentiality Rank**: 1352 * **Expression level (log2 read counts)**: 6.74 {{:chemogenomics:nalm6 dist.png?nolink |}}