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PAICS (phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase)

Identity

Alias_namesPAIS
phosphoribosylaminoimidazole carboxylase
Alias_symbol (synonym)ADE2H1
AIRC
Other aliasADE2
HGNC (Hugo) PAICS
LocusID (NCBI) 10606
Atlas_Id 55910
Location 4q12  [Link to chromosome band 4q12]
Location_base_pair Starts at 56436103 and ends at 56461368 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CENPC (4q13.2) / PAICS (4q12)

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)PAICS   8587
Cards
Entrez_Gene (NCBI)PAICS  10606  phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase
AliasesADE2; ADE2H1; AIRC; PAIS
GeneCards (Weizmann)PAICS
Ensembl hg19 (Hinxton)ENSG00000128050 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128050 [Gene_View]  chr4:56436103-56461368 [Contig_View]  PAICS [Vega]
ICGC DataPortalENSG00000128050
TCGA cBioPortalPAICS
AceView (NCBI)PAICS
Genatlas (Paris)PAICS
WikiGenes10606
SOURCE (Princeton)PAICS
Genetics Home Reference (NIH)PAICS
Genomic and cartography
GoldenPath hg38 (UCSC)PAICS  -     chr4:56436103-56461368 +  4q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAICS  -     4q12   [Description]    (hg19-Feb_2009)
EnsemblPAICS - 4q12 [CytoView hg19]  PAICS - 4q12 [CytoView hg38]
Mapping of homologs : NCBIPAICS [Mapview hg19]  PAICS [Mapview hg38]
OMIM172439   
Gene and transcription
Genbank (Entrez)AA669362 AK001163 AK054760 AK294821 AK308527
RefSeq transcript (Entrez)NM_001079524 NM_001079525 NM_006452
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAICS
Cluster EST : UnigeneHs.709570 [ NCBI ]
CGAP (NCI)Hs.709570
Alternative Splicing GalleryENSG00000128050
Gene ExpressionPAICS [ NCBI-GEO ]   PAICS [ EBI - ARRAY_EXPRESS ]   PAICS [ SEEK ]   PAICS [ MEM ]
Gene Expression Viewer (FireBrowse)PAICS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10606
GTEX Portal (Tissue expression)PAICS
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22234   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22234  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22234
Splice isoforms : SwissVarP22234
Catalytic activity : Enzyme6.3.2.6 [ Enzyme-Expasy ]   6.3.2.66.3.2.6 [ IntEnz-EBI ]   6.3.2.6 [ BRENDA ]   6.3.2.6 [ KEGG ]   
PhosPhoSitePlusP22234
Domaine pattern : Prosite (Expaxy)SAICAR_SYNTHETASE_1 (PS01057)    SAICAR_SYNTHETASE_2 (PS01058)   
Domains : Interpro (EBI)ATP_grasp_subdomain_2    PurE_classII    PurE_dom    SAICAR_synt/ADE2_N    SAICAR_synthetase_CS   
Domain families : Pfam (Sanger)AIRC (PF00731)    SAICAR_synt (PF01259)   
Domain families : Pfam (NCBI)pfam00731    pfam01259   
Domain families : Smart (EMBL)AIRC (SM01001)  
Conserved Domain (NCBI)PAICS
DMDM Disease mutations10606
Blocks (Seattle)PAICS
PDB (SRS)2H31   
PDB (PDBSum)2H31   
PDB (IMB)2H31   
PDB (RSDB)2H31   
Structural Biology KnowledgeBase2H31   
SCOP (Structural Classification of Proteins)2H31   
CATH (Classification of proteins structures)2H31   
SuperfamilyP22234
Human Protein AtlasENSG00000128050
Peptide AtlasP22234
HPRD01401
IPIIPI00815732   IPI00217223   IPI00964123   IPI00963816   
Protein Interaction databases
DIP (DOE-UCLA)P22234
IntAct (EBI)P22234
FunCoupENSG00000128050
BioGRIDPAICS
STRING (EMBL)PAICS
ZODIACPAICS
Ontologies - Pathways
QuickGOP22234
Ontology : AmiGOphosphoribosylaminoimidazole carboxylase activity  phosphoribosylaminoimidazolesuccinocarboxamide synthase activity  protein binding  ATP binding  cytoplasm  cytosol  'de novo' IMP biosynthetic process  purine nucleobase biosynthetic process  purine ribonucleoside monophosphate biosynthetic process  membrane  identical protein binding  cadherin binding  extracellular exosome  
Ontology : EGO-EBIphosphoribosylaminoimidazole carboxylase activity  phosphoribosylaminoimidazolesuccinocarboxamide synthase activity  protein binding  ATP binding  cytoplasm  cytosol  'de novo' IMP biosynthetic process  purine nucleobase biosynthetic process  purine ribonucleoside monophosphate biosynthetic process  membrane  identical protein binding  cadherin binding  extracellular exosome  
Pathways : KEGGPurine metabolism   
NDEx NetworkPAICS
Atlas of Cancer Signalling NetworkPAICS
Wikipedia pathwaysPAICS
Orthology - Evolution
OrthoDB10606
GeneTree (enSembl)ENSG00000128050
Phylogenetic Trees/Animal Genes : TreeFamPAICS
HOVERGENP22234
HOGENOMP22234
Homologs : HomoloGenePAICS
Homology/Alignments : Family Browser (UCSC)PAICS
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAICS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAICS
dbVarPAICS
ClinVarPAICS
1000_GenomesPAICS 
Exome Variant ServerPAICS
ExAC (Exome Aggregation Consortium)PAICS (select the gene name)
Genetic variants : HAPMAP10606
Genomic Variants (DGV)PAICS [DGVbeta]
DECIPHERPAICS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAICS 
Mutations
ICGC Data PortalPAICS 
TCGA Data PortalPAICS 
Broad Tumor PortalPAICS
OASIS PortalPAICS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPAICS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPAICS
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PAICS
DgiDB (Drug Gene Interaction Database)PAICS
DoCM (Curated mutations)PAICS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAICS (select a term)
intoGenPAICS
Cancer3DPAICS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM172439   
Orphanet
MedgenPAICS
Genetic Testing Registry PAICS
NextProtP22234 [Medical]
TSGene10606
GENETestsPAICS
Target ValidationPAICS
Huge Navigator PAICS [HugePedia]
snp3D : Map Gene to Disease10606
BioCentury BCIQPAICS
ClinGenPAICS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10606
Chemical/Pharm GKB GenePA32914
Clinical trialPAICS
Miscellaneous
canSAR (ICR)PAICS (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAICS
EVEXPAICS
GoPubMedPAICS
iHOPPAICS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:09:59 CEST 2017

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