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ASS1 (argininosuccinate synthase 1)

Identity

Alias_namesASS
argininosuccinate synthetase
Alias_symbol (synonym)CTLN1
Other alias
HGNC (Hugo) ASS1
LocusID (NCBI) 445
Atlas_Id 46363
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 130444707 and ends at 130501274 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ASS1 (9q34.11) / NCS1 (9q34.11)EXOSC2 (9q34.12) / ASS1 (9q34.11)ASS1 9q34.11 / NCS1 9q34.11

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)ASS1   758
Cards
Entrez_Gene (NCBI)ASS1  445  argininosuccinate synthase 1
AliasesASS; CTLN1
GeneCards (Weizmann)ASS1
Ensembl hg19 (Hinxton)ENSG00000130707 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130707 [Gene_View]  chr9:130444707-130501274 [Contig_View]  ASS1 [Vega]
ICGC DataPortalENSG00000130707
TCGA cBioPortalASS1
AceView (NCBI)ASS1
Genatlas (Paris)ASS1
WikiGenes445
SOURCE (Princeton)ASS1
Genetics Home Reference (NIH)ASS1
Genomic and cartography
GoldenPath hg38 (UCSC)ASS1  -     chr9:130444707-130501274 +  9q34.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASS1  -     9q34.11   [Description]    (hg19-Feb_2009)
EnsemblASS1 - 9q34.11 [CytoView hg19]  ASS1 - 9q34.11 [CytoView hg38]
Mapping of homologs : NCBIASS1 [Mapview hg19]  ASS1 [Mapview hg38]
OMIM215700   603470   
Gene and transcription
Genbank (Entrez)AK027126 AK293114 AK304625 AK315093 AW672752
RefSeq transcript (Entrez)NM_000050 NM_054012
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ASS1
Cluster EST : UnigeneHs.160786 [ NCBI ]
CGAP (NCI)Hs.160786
Alternative Splicing GalleryENSG00000130707
Gene ExpressionASS1 [ NCBI-GEO ]   ASS1 [ EBI - ARRAY_EXPRESS ]   ASS1 [ SEEK ]   ASS1 [ MEM ]
Gene Expression Viewer (FireBrowse)ASS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)445
GTEX Portal (Tissue expression)ASS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00966   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00966  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00966
Splice isoforms : SwissVarP00966
Catalytic activity : Enzyme6.3.4.5 [ Enzyme-Expasy ]   6.3.4.56.3.4.5 [ IntEnz-EBI ]   6.3.4.5 [ BRENDA ]   6.3.4.5 [ KEGG ]   
PhosPhoSitePlusP00966
Domaine pattern : Prosite (Expaxy)ARGININOSUCCIN_SYN_1 (PS00564)    ARGININOSUCCIN_SYN_2 (PS00565)   
Domains : Interpro (EBI)Arginosuc_synth    Arginosuc_synth_CS    Arginosuc_synth_type_1_subfam    AS_cat/multimer_dom_body    Rossmann-like_a/b/a_fold   
Domain families : Pfam (Sanger)Arginosuc_synth (PF00764)   
Domain families : Pfam (NCBI)pfam00764   
Conserved Domain (NCBI)ASS1
DMDM Disease mutations445
Blocks (Seattle)ASS1
PDB (SRS)2NZ2   
PDB (PDBSum)2NZ2   
PDB (IMB)2NZ2   
PDB (RSDB)2NZ2   
Structural Biology KnowledgeBase2NZ2   
SCOP (Structural Classification of Proteins)2NZ2   
CATH (Classification of proteins structures)2NZ2   
SuperfamilyP00966
Human Protein AtlasENSG00000130707
Peptide AtlasP00966
HPRD04590
IPIIPI00909521   IPI00020632   IPI00514341   IPI00640430   IPI00642128   
Protein Interaction databases
DIP (DOE-UCLA)P00966
IntAct (EBI)P00966
FunCoupENSG00000130707
BioGRIDASS1
STRING (EMBL)ASS1
ZODIACASS1
Ontologies - Pathways
QuickGOP00966
Ontology : AmiGOurea cycle  urea cycle  urea cycle  citrulline metabolic process  argininosuccinate metabolic process  RNA binding  argininosuccinate synthase activity  protein binding  ATP binding  cytoplasm  mitochondrion  cytosol  arginine biosynthetic process  arginine biosynthetic process  arginine biosynthetic process  aspartate metabolic process  amino acid binding  identical protein binding  myelin sheath  positive regulation of nitric oxide biosynthetic process  extracellular exosome  cellular response to laminar fluid shear stress  negative regulation of leukocyte cell-cell adhesion  
Ontology : EGO-EBIurea cycle  urea cycle  urea cycle  citrulline metabolic process  argininosuccinate metabolic process  RNA binding  argininosuccinate synthase activity  protein binding  ATP binding  cytoplasm  mitochondrion  cytosol  arginine biosynthetic process  arginine biosynthetic process  arginine biosynthetic process  aspartate metabolic process  amino acid binding  identical protein binding  myelin sheath  positive regulation of nitric oxide biosynthetic process  extracellular exosome  cellular response to laminar fluid shear stress  negative regulation of leukocyte cell-cell adhesion  
Pathways : KEGGAlanine, aspartate and glutamate metabolism    Arginine and proline metabolism   
NDEx NetworkASS1
Atlas of Cancer Signalling NetworkASS1
Wikipedia pathwaysASS1
Orthology - Evolution
OrthoDB445
GeneTree (enSembl)ENSG00000130707
Phylogenetic Trees/Animal Genes : TreeFamASS1
HOVERGENP00966
HOGENOMP00966
Homologs : HomoloGeneASS1
Homology/Alignments : Family Browser (UCSC)ASS1
Gene fusions - Rearrangements
Fusion : MitelmanASS1/NCS1 [9q34.11/9q34.11]  
Fusion: TCGAASS1 9q34.11 NCS1 9q34.11 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASS1
dbVarASS1
ClinVarASS1
1000_GenomesASS1 
Exome Variant ServerASS1
ExAC (Exome Aggregation Consortium)ASS1 (select the gene name)
Genetic variants : HAPMAP445
Genomic Variants (DGV)ASS1 [DGVbeta]
DECIPHERASS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisASS1 
Mutations
ICGC Data PortalASS1 
TCGA Data PortalASS1 
Broad Tumor PortalASS1
OASIS PortalASS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDASS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)The Globin Gene Server
BioMutasearch ASS1
DgiDB (Drug Gene Interaction Database)ASS1
DoCM (Curated mutations)ASS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASS1 (select a term)
intoGenASS1
Cancer3DASS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM215700    603470   
Orphanet19525    19526   
MedgenASS1
Genetic Testing Registry ASS1
NextProtP00966 [Medical]
TSGene445
GENETestsASS1
Huge Navigator ASS1 [HugePedia]
snp3D : Map Gene to Disease445
BioCentury BCIQASS1
ClinGenASS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD445
Chemical/Pharm GKB GenePA162376926
Clinical trialASS1
Miscellaneous
canSAR (ICR)ASS1 (select the gene name)
Probes
Litterature
PubMed93 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineASS1
EVEXASS1
GoPubMedASS1
iHOPASS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:06:56 CEST 2017

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