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ALAS1 (aminolevulinate, delta-, synthase 1)

Identity

Other namesALAS
ALAS3
ALASH
MIG4
HGNC (Hugo) ALAS1
LocusID (NCBI) 211
Location 3p21.2
Location_base_pair Starts at 52232099 and ends at 52248343 bp from pter ( according to hg19-Feb_2009)
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)ALAS1   396
Cards
Entrez_Gene (NCBI)ALAS1  211  aminolevulinate, delta-, synthase 1
GeneCards (Weizmann)ALAS1
Ensembl hg19 (Hinxton)ENSG00000023330 [Gene_View]  chr3:52232099-52248343 [Contig_View]  ALAS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000023330 [Gene_View]  chr3:52232099-52248343 [Contig_View]  ALAS1 [Vega]
ICGC DataPortalENSG00000023330
cBioPortalALAS1
AceView (NCBI)ALAS1
Genatlas (Paris)ALAS1
WikiGenes211
SOURCE (Princeton)ALAS1
Genomic and cartography
GoldenPath hg19 (UCSC)ALAS1  -     chr3:52232099-52248343 +  3p21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ALAS1  -     3p21.2   [Description]    (hg38-Dec_2013)
EnsemblALAS1 - 3p21.2 [CytoView hg19]  ALAS1 - 3p21.2 [CytoView hg38]
Mapping of homologs : NCBIALAS1 [Mapview hg19]  ALAS1 [Mapview hg38]
OMIM125290   
Gene and transcription
Genbank (Entrez)AB063322 AI868691 AK293190 AK300993 AK312566
RefSeq transcript (Entrez)NM_000688 NM_199166
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NT_022517 NW_001838877 NW_004929309
Consensus coding sequences : CCDS (NCBI)ALAS1
Cluster EST : UnigeneHs.476308 [ NCBI ]
CGAP (NCI)Hs.476308
Alternative Splicing : Fast-db (Paris)GSHG0020845
Alternative Splicing GalleryENSG00000023330
Gene ExpressionALAS1 [ NCBI-GEO ]     ALAS1 [ SEEK ]   ALAS1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13196 (Uniprot)
NextProtP13196  [Medical]
With graphics : InterProP13196
Splice isoforms : SwissVarP13196 (Swissvar)
Catalytic activity : Enzyme2.3.1.37 [ Enzyme-Expasy ]   2.3.1.372.3.1.37 [ IntEnz-EBI ]   2.3.1.37 [ BRENDA ]   2.3.1.37 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)AA_TRANSFER_CLASS_2 (PS00599)   
Domains : Interpro (EBI)4pyrrol_synth_NH2levulA_synth    5aminolev_synth_preseq    Aminotrans_II_pyridoxalP_BS    Aminotransferase_I/II    PyrdxlP-dep_Trfase    PyrdxlP-dep_Trfase_major_sub1    PyrdxlP-dep_Trfase_major_sub2   
Related proteins : CluSTrP13196
Domain families : Pfam (Sanger)Aminotran_1_2 (PF00155)    Preseq_ALAS (PF09029)   
Domain families : Pfam (NCBI)pfam00155    pfam09029   
DMDM Disease mutations211
Blocks (Seattle)P13196
Human Protein AtlasENSG00000023330
Peptide AtlasP13196
HPRD00505
IPIIPI00847214   IPI00908524   IPI00007266   IPI00946407   IPI00946026   
Protein Interaction databases
DIP (DOE-UCLA)P13196
IntAct (EBI)P13196
FunCoupENSG00000023330
BioGRIDALAS1
IntegromeDBALAS1
STRING (EMBL)ALAS1
Ontologies - Pathways
QuickGOP13196
Ontology : AmiGO5-aminolevulinate synthase activity  nucleus  nucleolus  cytoplasm  mitochondrion  mitochondrial matrix  porphyrin-containing compound metabolic process  protoporphyrinogen IX biosynthetic process  heme biosynthetic process  pyridoxal phosphate binding  cellular lipid metabolic process  small molecule metabolic process  
Ontology : EGO-EBI5-aminolevulinate synthase activity  nucleus  nucleolus  cytoplasm  mitochondrion  mitochondrial matrix  porphyrin-containing compound metabolic process  protoporphyrinogen IX biosynthetic process  heme biosynthetic process  pyridoxal phosphate binding  cellular lipid metabolic process  small molecule metabolic process  
Pathways : BIOCARTAHemoglobin's Chaperone [Genes]   
Pathways : KEGGGlycine, serine and threonine metabolism    Porphyrin and chlorophyll metabolism   
Protein Interaction DatabaseALAS1
DoCM (Curated mutations)ALAS1
Wikipedia pathwaysALAS1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerALAS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALAS1
dbVarALAS1
ClinVarALAS1
1000_GenomesALAS1 
Exome Variant ServerALAS1
SNP (GeneSNP Utah)ALAS1
SNP : HGBaseALAS1
Genetic variants : HAPMAPALAS1
Genomic VariantsALAS1  ALAS1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000023330 
Somatic Mutations in Cancer : COSMICALAS1 
CONAN: Copy Number AnalysisALAS1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:52232099-52248343
Mutations and Diseases : HGMDALAS1
OMIM125290   
MedgenALAS1
NextProtP13196 [Medical]
GENETestsALAS1
Disease Genetic AssociationALAS1
Huge Navigator ALAS1 [HugePedia]  ALAS1 [HugeCancerGEM]
snp3D : Map Gene to Disease211
DGIdb (Drug Gene Interaction db)ALAS1
General knowledge
Homologs : HomoloGeneALAS1
Homology/Alignments : Family Browser (UCSC)ALAS1
Phylogenetic Trees/Animal Genes : TreeFamALAS1
Chemical/Protein Interactions : CTD211
Chemical/Pharm GKB GenePA24688
Clinical trialALAS1
Cancer Resource (Charite)ENSG00000023330
Other databases
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
CoreMineALAS1
GoPubMedALAS1
iHOPALAS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:04:54 CET 2014

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