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ALDH18A1 (aldehyde dehydrogenase 18 family, member A1)

Identity

Alias_namesGSAS
PYCS
pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
aldehyde dehydrogenase 18 family, member A1
Alias_symbol (synonym)P5CS
Other aliasARCL3A
HGNC (Hugo) ALDH18A1
LocusID (NCBI) 5832
Atlas_Id 60238
Location 10q24.1  [Link to chromosome band 10q24]
Location_base_pair Starts at 97365686 and ends at 97416567 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ALDH18A1 (10q24.1) / ALDH18A1 (10q24.1)ALDH18A1 (10q24.1) / CALCOCO2 (17q21.32)ALDH18A1 (10q24.1) / HGSNAT (8p11.21)
ALDH18A1 (10q24.1) / ZNF271P (18q12.2)

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)ALDH18A1   9722
Cards
Entrez_Gene (NCBI)ALDH18A1  5832  aldehyde dehydrogenase 18 family, member A1
AliasesARCL3A; GSAS; P5CS; PYCS
GeneCards (Weizmann)ALDH18A1
Ensembl hg19 (Hinxton)ENSG00000059573 [Gene_View]  chr10:97365686-97416567 [Contig_View]  ALDH18A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000059573 [Gene_View]  chr10:97365686-97416567 [Contig_View]  ALDH18A1 [Vega]
ICGC DataPortalENSG00000059573
TCGA cBioPortalALDH18A1
AceView (NCBI)ALDH18A1
Genatlas (Paris)ALDH18A1
WikiGenes5832
SOURCE (Princeton)ALDH18A1
Genetics Home Reference (NIH)ALDH18A1
Genomic and cartography
GoldenPath hg19 (UCSC)ALDH18A1  -     chr10:97365686-97416567 -  10q24.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ALDH18A1  -     10q24.1   [Description]    (hg38-Dec_2013)
EnsemblALDH18A1 - 10q24.1 [CytoView hg19]  ALDH18A1 - 10q24.1 [CytoView hg38]
Mapping of homologs : NCBIALDH18A1 [Mapview hg19]  ALDH18A1 [Mapview hg38]
OMIM138250   219150   
Gene and transcription
Genbank (Entrez)AK126355 AK225455 AK225465 AK226032 AK295487
RefSeq transcript (Entrez)NM_001017423 NM_002860
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_012258 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)ALDH18A1
Cluster EST : UnigeneHs.500645 [ NCBI ]
CGAP (NCI)Hs.500645
Alternative Splicing GalleryENSG00000059573
Gene ExpressionALDH18A1 [ NCBI-GEO ]   ALDH18A1 [ EBI - ARRAY_EXPRESS ]   ALDH18A1 [ SEEK ]   ALDH18A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ALDH18A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5832
GTEX Portal (Tissue expression)ALDH18A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54886   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54886  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54886
Splice isoforms : SwissVarP54886
Catalytic activity : Enzyme2.7.2.11 [ Enzyme-Expasy ]   2.7.2.112.7.2.11 [ IntEnz-EBI ]   2.7.2.11 [ BRENDA ]   2.7.2.11 [ KEGG ]   
PhosPhoSitePlusP54886
Domaine pattern : Prosite (Expaxy)GLUTAMATE_5_KINASE (PS00902)    PROA (PS01223)   
Domains : Interpro (EBI)Ald_DH/histidinol_DH    Ald_DH_C    Ald_DH_N    Aldehyde_DH_dom    Asp/Glu/Uridylate_kinase    G-glutamylP_reductase_CS    Glu/AcGlu_kinase    Glu_5kinase/COase_Synthase    Glutamate_5-kinase_CS    GPR_dom    P5_carboxy_syn   
Domain families : Pfam (Sanger)AA_kinase (PF00696)    Aldedh (PF00171)   
Domain families : Pfam (NCBI)pfam00696    pfam00171   
Conserved Domain (NCBI)ALDH18A1
DMDM Disease mutations5832
Blocks (Seattle)ALDH18A1
PDB (SRS)2H5G   
PDB (PDBSum)2H5G   
PDB (IMB)2H5G   
PDB (RSDB)2H5G   
Structural Biology KnowledgeBase2H5G   
SCOP (Structural Classification of Proteins)2H5G   
CATH (Classification of proteins structures)2H5G   
SuperfamilyP54886
Human Protein AtlasENSG00000059573
Peptide AtlasP54886
HPRD00696
IPIIPI00008982   IPI00218547   
Protein Interaction databases
DIP (DOE-UCLA)P54886
IntAct (EBI)P54886
FunCoupENSG00000059573
BioGRIDALDH18A1
STRING (EMBL)ALDH18A1
ZODIACALDH18A1
Ontologies - Pathways
QuickGOP54886
Ontology : AmiGOglutamate 5-kinase activity  glutamate-5-semialdehyde dehydrogenase activity  protein binding  ATP binding  cytoplasm  mitochondrion  mitochondrial inner membrane  glutamate metabolic process  proline biosynthetic process  ornithine biosynthetic process  cellular amino acid biosynthetic process  phosphorylation  citrulline biosynthetic process  cellular nitrogen compound metabolic process  small molecule metabolic process  poly(A) RNA binding  oxidation-reduction process  L-proline biosynthetic process  
Ontology : EGO-EBIglutamate 5-kinase activity  glutamate-5-semialdehyde dehydrogenase activity  protein binding  ATP binding  cytoplasm  mitochondrion  mitochondrial inner membrane  glutamate metabolic process  proline biosynthetic process  ornithine biosynthetic process  cellular amino acid biosynthetic process  phosphorylation  citrulline biosynthetic process  cellular nitrogen compound metabolic process  small molecule metabolic process  poly(A) RNA binding  oxidation-reduction process  L-proline biosynthetic process  
Pathways : KEGGArginine and proline metabolism   
NDEx NetworkALDH18A1
Atlas of Cancer Signalling NetworkALDH18A1
Wikipedia pathwaysALDH18A1
Orthology - Evolution
OrthoDB5832
GeneTree (enSembl)ENSG00000059573
Phylogenetic Trees/Animal Genes : TreeFamALDH18A1
HOVERGENP54886
HOGENOMP54886
Homologs : HomoloGeneALDH18A1
Homology/Alignments : Family Browser (UCSC)ALDH18A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALDH18A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALDH18A1
dbVarALDH18A1
ClinVarALDH18A1
1000_GenomesALDH18A1 
Exome Variant ServerALDH18A1
ExAC (Exome Aggregation Consortium)ALDH18A1 (select the gene name)
Genetic variants : HAPMAP5832
Genomic Variants (DGV)ALDH18A1 [DGVbeta]
DECIPHER (Syndromes)10:97365686-97416567  ENSG00000059573
CONAN: Copy Number AnalysisALDH18A1 
Mutations
ICGC Data PortalALDH18A1 
TCGA Data PortalALDH18A1 
Broad Tumor PortalALDH18A1
OASIS PortalALDH18A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALDH18A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALDH18A1
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ALDH18A1
DgiDB (Drug Gene Interaction Database)ALDH18A1
DoCM (Curated mutations)ALDH18A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALDH18A1 (select a term)
intoGenALDH18A1
Cancer3DALDH18A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138250    219150   
Orphanet23537    23536    23538    10381    12024   
MedgenALDH18A1
Genetic Testing Registry ALDH18A1
NextProtP54886 [Medical]
TSGene5832
GENETestsALDH18A1
Huge Navigator ALDH18A1 [HugePedia]
snp3D : Map Gene to Disease5832
BioCentury BCIQALDH18A1
ClinGenALDH18A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5832
Chemical/Pharm GKB GenePA34065
Clinical trialALDH18A1
Miscellaneous
canSAR (ICR)ALDH18A1 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALDH18A1
EVEXALDH18A1
GoPubMedALDH18A1
iHOPALDH18A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:54:03 CET 2017

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