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ADSL (adenylosuccinate lyase)

Identity

HGNC (Hugo) ADSL
LocusID (NCBI) 158
Atlas_Id 60175
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 40742504 and ends at 40762575 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADSL (22q13.1) / PVALB (22q12.3)ADSL (22q13.1) / SGSM3 (22q13.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ADSL   291
Cards
Entrez_Gene (NCBI)ADSL  158  adenylosuccinate lyase
AliasesAMPS; ASASE; ASL
GeneCards (Weizmann)ADSL
Ensembl hg19 (Hinxton)ENSG00000239900 [Gene_View]  chr22:40742504-40762575 [Contig_View]  ADSL [Vega]
Ensembl hg38 (Hinxton)ENSG00000239900 [Gene_View]  chr22:40742504-40762575 [Contig_View]  ADSL [Vega]
ICGC DataPortalENSG00000239900
TCGA cBioPortalADSL
AceView (NCBI)ADSL
Genatlas (Paris)ADSL
WikiGenes158
SOURCE (Princeton)ADSL
Genetics Home Reference (NIH)ADSL
Genomic and cartography
GoldenPath hg19 (UCSC)ADSL  -     chr22:40742504-40762575 +  22q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ADSL  -     22q13.1   [Description]    (hg38-Dec_2013)
EnsemblADSL - 22q13.1 [CytoView hg19]  ADSL - 22q13.1 [CytoView hg38]
Mapping of homologs : NCBIADSL [Mapview hg19]  ADSL [Mapview hg38]
OMIM103050   608222   
Gene and transcription
Genbank (Entrez)AF067853 AF067854 AK225042 AK291091 AK293722
RefSeq transcript (Entrez)NM_000026 NM_001123378
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_007993 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)ADSL
Cluster EST : UnigeneHs.75527 [ NCBI ]
CGAP (NCI)Hs.75527
Alternative Splicing GalleryENSG00000239900
Gene ExpressionADSL [ NCBI-GEO ]   ADSL [ EBI - ARRAY_EXPRESS ]   ADSL [ SEEK ]   ADSL [ MEM ]
Gene Expression Viewer (FireBrowse)ADSL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)158
GTEX Portal (Tissue expression)ADSL
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30566   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP30566  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP30566
Splice isoforms : SwissVarP30566
Catalytic activity : Enzyme4.3.2.2 [ Enzyme-Expasy ]   4.3.2.24.3.2.2 [ IntEnz-EBI ]   4.3.2.2 [ BRENDA ]   4.3.2.2 [ KEGG ]   
PhosPhoSitePlusP30566
Domaine pattern : Prosite (Expaxy)FUMARATE_LYASES (PS00163)   
Domains : Interpro (EBI)AdenyloSucc_lyase_C    Fumarase/histidase_N    Fumarate_lyase_CS    Fumarate_lyase_fam    Fumarate_lyase_N    L-Aspartase-like    Pur_lyase   
Domain families : Pfam (Sanger)ADSL_C (PF10397)    Lyase_1 (PF00206)   
Domain families : Pfam (NCBI)pfam10397    pfam00206   
Domain families : Smart (EMBL)ADSL_C (SM00998)  
Conserved Domain (NCBI)ADSL
DMDM Disease mutations158
Blocks (Seattle)ADSL
PDB (SRS)2J91    2VD6    4FFX    4FLC   
PDB (PDBSum)2J91    2VD6    4FFX    4FLC   
PDB (IMB)2J91    2VD6    4FFX    4FLC   
PDB (RSDB)2J91    2VD6    4FFX    4FLC   
Structural Biology KnowledgeBase2J91    2VD6    4FFX    4FLC   
SCOP (Structural Classification of Proteins)2J91    2VD6    4FFX    4FLC   
CATH (Classification of proteins structures)2J91    2VD6    4FFX    4FLC   
SuperfamilyP30566
Human Protein AtlasENSG00000239900
Peptide AtlasP30566
HPRD00049
IPIIPI00942092   IPI00220887   IPI00909590   IPI00026904   IPI01015286   IPI00916724   IPI00916319   
Protein Interaction databases
DIP (DOE-UCLA)P30566
IntAct (EBI)P30566
FunCoupENSG00000239900
BioGRIDADSL
STRING (EMBL)ADSL
ZODIACADSL
Ontologies - Pathways
QuickGOP30566
Ontology : AmiGOresponse to hypoxia  N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity  N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity  N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity  mitochondrion  cytosol  purine nucleobase metabolic process  purine nucleotide biosynthetic process  AMP biosynthetic process  'de novo' IMP biosynthetic process  response to nutrient  metabolic process  aerobic respiration  purine ribonucleoside monophosphate biosynthetic process  response to muscle activity  response to starvation  'de novo' AMP biosynthetic process  small molecule metabolic process  protein tetramerization  nucleobase-containing small molecule metabolic process  (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity  
Ontology : EGO-EBIresponse to hypoxia  N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity  N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity  N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity  mitochondrion  cytosol  purine nucleobase metabolic process  purine nucleotide biosynthetic process  AMP biosynthetic process  'de novo' IMP biosynthetic process  response to nutrient  metabolic process  aerobic respiration  purine ribonucleoside monophosphate biosynthetic process  response to muscle activity  response to starvation  'de novo' AMP biosynthetic process  small molecule metabolic process  protein tetramerization  nucleobase-containing small molecule metabolic process  (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity  
Pathways : KEGGPurine metabolism    Alanine, aspartate and glutamate metabolism   
NDEx NetworkADSL
Atlas of Cancer Signalling NetworkADSL
Wikipedia pathwaysADSL
Orthology - Evolution
OrthoDB158
GeneTree (enSembl)ENSG00000239900
Phylogenetic Trees/Animal Genes : TreeFamADSL
HOVERGENP30566
HOGENOMP30566
Homologs : HomoloGeneADSL
Homology/Alignments : Family Browser (UCSC)ADSL
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerADSL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ADSL
dbVarADSL
ClinVarADSL
1000_GenomesADSL 
Exome Variant ServerADSL
ExAC (Exome Aggregation Consortium)ADSL (select the gene name)
Genetic variants : HAPMAP158
Genomic Variants (DGV)ADSL [DGVbeta]
DECIPHER (Syndromes)22:40742504-40762575  ENSG00000239900
CONAN: Copy Number AnalysisADSL 
Mutations
ICGC Data PortalADSL 
TCGA Data PortalADSL 
Broad Tumor PortalADSL
OASIS PortalADSL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICADSL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDADSL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ADSL
DgiDB (Drug Gene Interaction Database)ADSL
DoCM (Curated mutations)ADSL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ADSL (select a term)
intoGenADSL
Cancer3DADSL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM103050    608222   
Orphanet763   
MedgenADSL
Genetic Testing Registry ADSL
NextProtP30566 [Medical]
TSGene158
GENETestsADSL
Huge Navigator ADSL [HugePedia]
snp3D : Map Gene to Disease158
BioCentury BCIQADSL
ClinGenADSL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD158
Chemical/Pharm GKB GenePA24600
Clinical trialADSL
Miscellaneous
canSAR (ICR)ADSL (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineADSL
EVEXADSL
GoPubMedADSL
iHOPADSL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 18:47:36 CET 2016

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