ENSG00000185100


Homo sapiens

Features
Gene ID: ENSG00000185100
  
Biological name :ADSSL1
  
Synonyms : adenylosuccinate synthase like 1 / ADSSL1 / Q8N142
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q32.33
Gene start: 104724186
Gene end: 104747325
  
Corresponding Affymetrix probe sets: 226325_at (Human Genome U133 Plus 2.0 Array)   238259_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000473778
Ensembl peptide - ENSP00000450759
Ensembl peptide - ENSP00000452303
Ensembl peptide - ENSP00000331260
Ensembl peptide - ENSP00000333019
Ensembl peptide - ENSP00000450433
NCBI entrez gene - 122622     See in Manteia.
OMIM - 612498
RefSeq - XM_011536414
RefSeq - NM_001320424
RefSeq - NM_152328
RefSeq - NM_199165
RefSeq - XM_006720026
RefSeq - XM_011536412
RefSeq Peptide - NP_001307353
RefSeq Peptide - NP_689541
RefSeq Peptide - NP_954634
swissprot - G3V2N1
swissprot - G3V5D8
swissprot - Q8N142
swissprot - S4R2Z1
swissprot - G3V232
Ensembl - ENSG00000185100
  
Related genetic diseases (OMIM): 617030 - Myopathy, distal, 5, 617030
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 adssl1ENSDARG00000099517Danio rerio
 ADSSL1ENSGALG00000011618Gallus gallus
 Adssl1ENSMUSG00000011148Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ADSS / P30520 / adenylosuccinate synthaseENSG0000003568763


Protein motifs (from Interpro)
Interpro ID Name
 IPR001114  Adenylosuccinate synthetase
 IPR018220  Adenylosuccinate synthase, GTP-binding site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR027509  Adenylosuccinate synthetase isozyme 1, chordates
 IPR033128  Adenylosuccinate synthase, active site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process NAS
 biological_processGO:0006163 purine nucleotide metabolic process IEA
 biological_processGO:0006164 purine nucleotide biosynthetic process IEA
 biological_processGO:0006167 AMP biosynthetic process IDA
 biological_processGO:0006531 aspartate metabolic process IEA
 biological_processGO:0006541 glutamine metabolic process IEA
 biological_processGO:0009168 purine ribonucleoside monophosphate biosynthetic process IEA
 biological_processGO:0014850 response to muscle activity IEA
 biological_processGO:0035690 cellular response to drug IEA
 biological_processGO:0042594 response to starvation IEA
 biological_processGO:0044208 "de novo" AMP biosynthetic process IBA
 biological_processGO:0046040 IMP metabolic process IEA
 biological_processGO:0071257 cellular response to electrical stimulus IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0004019 adenylosuccinate synthase activity EXP
 molecular_functionGO:0005525 GTP binding NAS
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0042301 phosphate ion binding NAS
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
Purine ribonucleoside monophosphate biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002600 Hyporeflexia of lower limbs 
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 HP:0003555 Muscle fiber splitting "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches." [pmid:6123177]
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 HP:0003677 Slow progression 
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 HP:0003693 Distal amyotrophy "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators]
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 HP:0008180 Mildly elevated creatine phosphokinase 
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 HP:0010628 Facial muscle weakness "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000185100 ADSSL1 / Q8N142 / adenylosuccinate synthase like 1  / complex






 

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