ADSSL1
Summary: This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| adenylosuccinate synthase like 1 | MIM:612498 | Ensembl:ENSG00000185100 | HGNC:HGNC:20093 | PA134974111 | 14q32.33 |
Gene Categories:
DRUG RESISTANCEGO terms in ADSSL1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | NAS | GO:0002376 | immune system process |
| BP | IDA | GO:0006167 | AMP biosynthetic process |
| BP | IEA | GO:0006531 | aspartate metabolic process |
| BP | IEA | GO:0006541 | glutamine metabolic process |
| BP | TAS | GO:0009168 | purine ribonucleoside monophosphate biosynthetic process |
| BP | IEA | GO:0014850 | response to muscle activity |
| BP | IEA | GO:0035690 | cellular response to drug |
| BP | IEA | GO:0042594 | response to starvation |
| BP | IBA | GO:0044208 | 'de novo' AMP biosynthetic process |
| BP | IEA | GO:0044208 | 'de novo' AMP biosynthetic process |
| BP | IBA | GO:0046040 | IMP metabolic process |
| BP | IEA | GO:0071257 | cellular response to electrical stimulus |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| MF | IEA | GO:0003924 | GTPase activity |
| MF | EXP | GO:0004019 | adenylosuccinate synthase activity |
| MF | IBA | GO:0004019 | adenylosuccinate synthase activity |
| MF | IDA | GO:0004019 | adenylosuccinate synthase activity |
| MF | IMP | GO:0004019 | adenylosuccinate synthase activity |
| MF | NAS | GO:0005525 | GTP binding |
| MF | NAS | GO:0042301 | phosphate ion binding |
| MF | IEA | GO:0042803 | protein homodimerization activity |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IEA | GO:0051015 | actin filament binding |
Gene expression in normal tissue: ADSSL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ADSSL1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| humancyc | PWY-7219 | adenosine ribonucleotides de novo biosynthesis |
| humancyc | PWY-841 | purine nucleotides de novo biosynthesis |
| humancyc | PWY66-409 | superpathway of purine nucleotide salvage |
| kegg | hsa00230 | Purine metabolism - Homo sapiens (human) |
| kegg | hsa00250 | Alanine, aspartate and glutamate metabolism - Homo sapiens (human) |
| smpdb | SMP00067 | Aspartate Metabolism |
| smpdb | SMP00175 | Canavan Disease |
| smpdb | SMP00192 | Hypoacetylaspartia |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-15869 | Metabolism of nucleotides |
| reactome | R-HSA-73817 | Purine ribonucleoside monophosphate biosynthesis |
| reactome | R-HSA-8956320 | Nucleobase biosynthesis |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ADSSL1
CLASSFICATION
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