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ALAD (aminolevulinate dehydratase)

Identity

Alias_namesaminolevulinate
Alias_symbol (synonym)ALADH
PBGS
Other alias
HGNC (Hugo) ALAD
LocusID (NCBI) 210
Atlas_Id 52501
Location 9q32  [Link to chromosome band 9q32]
Location_base_pair Starts at 113386312 and ends at 113401338 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ALAD (9q32) / ESRP2 (16q22.1)

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)ALAD   395
Cards
Entrez_Gene (NCBI)ALAD  210  aminolevulinate dehydratase
AliasesALADH; PBGS
GeneCards (Weizmann)ALAD
Ensembl hg19 (Hinxton)ENSG00000148218 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000148218 [Gene_View]  chr9:113386312-113401338 [Contig_View]  ALAD [Vega]
ICGC DataPortalENSG00000148218
TCGA cBioPortalALAD
AceView (NCBI)ALAD
Genatlas (Paris)ALAD
WikiGenes210
SOURCE (Princeton)ALAD
Genetics Home Reference (NIH)ALAD
Genomic and cartography
GoldenPath hg38 (UCSC)ALAD  -     chr9:113386312-113401338 -  9q32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALAD  -     9q32   [Description]    (hg19-Feb_2009)
EnsemblALAD - 9q32 [CytoView hg19]  ALAD - 9q32 [CytoView hg38]
Mapping of homologs : NCBIALAD [Mapview hg19]  ALAD [Mapview hg38]
OMIM125270   612740   
Gene and transcription
Genbank (Entrez)AA593706 AK131490 AK290490 AK295945 AK312552
RefSeq transcript (Entrez)NM_000031 NM_001003945 NM_001317745
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALAD
Cluster EST : UnigeneHs.1227 [ NCBI ]
CGAP (NCI)Hs.1227
Alternative Splicing GalleryENSG00000148218
Gene ExpressionALAD [ NCBI-GEO ]   ALAD [ EBI - ARRAY_EXPRESS ]   ALAD [ SEEK ]   ALAD [ MEM ]
Gene Expression Viewer (FireBrowse)ALAD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)210
GTEX Portal (Tissue expression)ALAD
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13716   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13716  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13716
Splice isoforms : SwissVarP13716
Catalytic activity : Enzyme4.2.1.24 [ Enzyme-Expasy ]   4.2.1.244.2.1.24 [ IntEnz-EBI ]   4.2.1.24 [ BRENDA ]   4.2.1.24 [ KEGG ]   
PhosPhoSitePlusP13716
Domaine pattern : Prosite (Expaxy)D_ALA_DEHYDRATASE (PS00169)   
Domains : Interpro (EBI)ALAD    ALAD_AS    Aldolase_TIM   
Domain families : Pfam (Sanger)ALAD (PF00490)   
Domain families : Pfam (NCBI)pfam00490   
Domain families : Smart (EMBL)ALAD (SM01004)  
Conserved Domain (NCBI)ALAD
DMDM Disease mutations210
Blocks (Seattle)ALAD
PDB (SRS)1E51    1PV8    5HMS    5HNR   
PDB (PDBSum)1E51    1PV8    5HMS    5HNR   
PDB (IMB)1E51    1PV8    5HMS    5HNR   
PDB (RSDB)1E51    1PV8    5HMS    5HNR   
Structural Biology KnowledgeBase1E51    1PV8    5HMS    5HNR   
SCOP (Structural Classification of Proteins)1E51    1PV8    5HMS    5HNR   
CATH (Classification of proteins structures)1E51    1PV8    5HMS    5HNR   
SuperfamilyP13716
Human Protein AtlasENSG00000148218
Peptide AtlasP13716
HPRD00504
IPIIPI00442121   IPI00937974   IPI00790373   IPI01013587   IPI00917587   IPI00917028   
Protein Interaction databases
DIP (DOE-UCLA)P13716
IntAct (EBI)P13716
FunCoupENSG00000148218
BioGRIDALAD
STRING (EMBL)ALAD
ZODIACALAD
Ontologies - Pathways
QuickGOP13716
Ontology : AmiGOresponse to hypoxia  catalytic activity  porphobilinogen synthase activity  porphobilinogen synthase activity  extracellular region  extracellular space  nucleus  cytosol  cytosol  protoporphyrinogen IX biosynthetic process  heme biosynthetic process  heme biosynthetic process  response to oxidative stress  zinc ion binding  response to herbicide  response to iron ion  response to zinc ion  response to aluminum ion  response to ionizing radiation  response to vitamin B1  response to selenium ion  response to activity  response to cobalt ion  response to lipopolysaccharide  response to vitamin E  secretory granule lumen  response to drug  identical protein binding  response to amino acid  neutrophil degranulation  response to ethanol  response to arsenic-containing substance  response to cadmium ion  response to mercury ion  protein homooligomerization  response to glucocorticoid  response to methylmercury  extracellular exosome  response to platinum ion  response to fatty acid  cellular response to lead ion  cellular response to interleukin-4  negative regulation of proteasomal protein catabolic process  ficolin-1-rich granule lumen  
Ontology : EGO-EBIresponse to hypoxia  catalytic activity  porphobilinogen synthase activity  porphobilinogen synthase activity  extracellular region  extracellular space  nucleus  cytosol  cytosol  protoporphyrinogen IX biosynthetic process  heme biosynthetic process  heme biosynthetic process  response to oxidative stress  zinc ion binding  response to herbicide  response to iron ion  response to zinc ion  response to aluminum ion  response to ionizing radiation  response to vitamin B1  response to selenium ion  response to activity  response to cobalt ion  response to lipopolysaccharide  response to vitamin E  secretory granule lumen  response to drug  identical protein binding  response to amino acid  neutrophil degranulation  response to ethanol  response to arsenic-containing substance  response to cadmium ion  response to mercury ion  protein homooligomerization  response to glucocorticoid  response to methylmercury  extracellular exosome  response to platinum ion  response to fatty acid  cellular response to lead ion  cellular response to interleukin-4  negative regulation of proteasomal protein catabolic process  ficolin-1-rich granule lumen  
Pathways : BIOCARTAHemoglobin's Chaperone [Genes]   
Pathways : KEGGPorphyrin and chlorophyll metabolism   
NDEx NetworkALAD
Atlas of Cancer Signalling NetworkALAD
Wikipedia pathwaysALAD
Orthology - Evolution
OrthoDB210
GeneTree (enSembl)ENSG00000148218
Phylogenetic Trees/Animal Genes : TreeFamALAD
HOVERGENP13716
HOGENOMP13716
Homologs : HomoloGeneALAD
Homology/Alignments : Family Browser (UCSC)ALAD
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALAD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALAD
dbVarALAD
ClinVarALAD
1000_GenomesALAD 
Exome Variant ServerALAD
ExAC (Exome Aggregation Consortium)ALAD (select the gene name)
Genetic variants : HAPMAP210
Genomic Variants (DGV)ALAD [DGVbeta]
DECIPHERALAD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALAD 
Mutations
ICGC Data PortalALAD 
TCGA Data PortalALAD 
Broad Tumor PortalALAD
OASIS PortalALAD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALAD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALAD
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
BioMutasearch ALAD
DgiDB (Drug Gene Interaction Database)ALAD
DoCM (Curated mutations)ALAD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALAD (select a term)
intoGenALAD
Cancer3DALAD(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125270    612740   
Orphanet14678   
MedgenALAD
Genetic Testing Registry ALAD
NextProtP13716 [Medical]
TSGene210
GENETestsALAD
Target ValidationALAD
Huge Navigator ALAD [HugePedia]
snp3D : Map Gene to Disease210
BioCentury BCIQALAD
ClinGenALAD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD210
Chemical/Pharm GKB GenePA24687
Clinical trialALAD
Miscellaneous
canSAR (ICR)ALAD (select the gene name)
Probes
Litterature
PubMed120 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALAD
EVEXALAD
GoPubMedALAD
iHOPALAD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:54:45 CEST 2017

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