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ALAS1 (5'-aminolevulinate synthase 1)

Identity

Other namesALAS
ALAS-H
ALAS3
ALASH
MIG4
HGNC (Hugo) ALAS1
LocusID (NCBI) 211
Atlas_Id 45873
Location 3p21.2  [Link to chromosome band 3p21]
Location_base_pair Starts at 52232099 and ends at 52248343 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ALAS1 (3p21.2) / ALAS1 (3p21.2)DNAH1 (3p21.1) / ALAS1 (3p21.2)GLYCTK (3p21.1) / ALAS1 (3p21.2)
SRGN (10q22.1) / ALAS1 (3p21.2)DNAH1 3p21.1 / ALAS1 3p21.2GLYCTK 3p21.1 / ALAS1 3p21.2

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)ALAS1   396
Cards
Entrez_Gene (NCBI)ALAS1  211  5'-aminolevulinate synthase 1
AliasesALAS; ALAS-H; ALAS3; ALASH; 
MIG4
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
TCGA 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_001304443 NM_001304444 NM_199166
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)ALAS1
Cluster EST : UnigeneHs.731798 [ NCBI ]
CGAP (NCI)Hs.731798
Alternative Splicing GalleryENSG00000023330
Gene ExpressionALAS1 [ NCBI-GEO ]   ALAS1 [ EBI - ARRAY_EXPRESS ]   ALAS1 [ SEEK ]   ALAS1 [ MEM ]
Gene Expression Viewer (FireBrowse)ALAS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)211
GTEX Portal (Tissue expression)ALAS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13196 (Uniprot)
NextProtP13196  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusP13196
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   
Domain families : Pfam (Sanger)Aminotran_1_2 (PF00155)    Preseq_ALAS (PF09029)   
Domain families : Pfam (NCBI)pfam00155    pfam09029   
DMDM Disease mutations211
Blocks (Seattle)ALAS1
SuperfamilyP13196
Human Protein AtlasENSG00000023330
Peptide AtlasP13196
HPRD00505
IPIIPI00847214   IPI00908524   IPI00007266   IPI00946407   IPI00946026   
Protein Interaction databases
DIP (DOE-UCLA)P13196
IntAct (EBI)P13196
FunCoupENSG00000023330
BioGRIDALAS1
STRING (EMBL)ALAS1
ZODIACALAS1
Ontologies - Pathways
QuickGOP13196
Ontology : AmiGO5-aminolevulinate synthase activity  protein binding  nucleoplasm  cytoplasm  mitochondrion  mitochondrial matrix  protoporphyrinogen IX biosynthetic process  heme biosynthetic process  mitochondrion organization  pyridoxal phosphate binding  
Ontology : EGO-EBI5-aminolevulinate synthase activity  protein binding  nucleoplasm  cytoplasm  mitochondrion  mitochondrial matrix  protoporphyrinogen IX biosynthetic process  heme biosynthetic process  mitochondrion organization  pyridoxal phosphate binding  
Pathways : BIOCARTAHemoglobin's Chaperone [Genes]   
Pathways : KEGGGlycine, serine and threonine metabolism    Porphyrin and chlorophyll metabolism   
NDEx NetworkALAS1
Atlas of Cancer Signalling NetworkALAS1
Wikipedia pathwaysALAS1
Orthology - Evolution
OrthoDB211
GeneTree (enSembl)ENSG00000023330
Phylogenetic Trees/Animal Genes : TreeFamALAS1
Homologs : HomoloGeneALAS1
Homology/Alignments : Family Browser (UCSC)ALAS1
Gene fusions - Rearrangements
Fusion: TCGADNAH1 3p21.1 ALAS1 3p21.2 BRCA
Fusion: TCGAGLYCTK 3p21.1 ALAS1 3p21.2 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerALAS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALAS1
dbVarALAS1
ClinVarALAS1
1000_GenomesALAS1 
Exome Variant ServerALAS1
ExAC (Exome Aggregation Consortium)ALAS1 (select the gene name)
Genetic variants : HAPMAP211
Genomic Variants (DGV)ALAS1 [DGVbeta]
Mutations
ICGC Data PortalALAS1 
TCGA Data PortalALAS1 
Broad Tumor PortalALAS1
OASIS PortalALAS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALAS1 
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 ALAS1
DgiDB (Drug Gene Interaction Database)ALAS1
DoCM (Curated mutations)ALAS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALAS1 (select a term)
intoGenALAS1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:52232099-52248343  ENSG00000023330
CONAN: Copy Number AnalysisALAS1 
Mutations and Diseases : HGMDALAS1
OMIM125290   
MedgenALAS1
Genetic Testing Registry ALAS1
NextProtP13196 [Medical]
TSGene211
GENETestsALAS1
Huge Navigator ALAS1 [HugePedia]
snp3D : Map Gene to Disease211
BioCentury BCIQALAS1
ClinGenALAS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD211
Chemical/Pharm GKB GenePA24688
Clinical trialALAS1
Miscellaneous
canSAR (ICR)ALAS1 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALAS1
EVEXALAS1
GoPubMedALAS1
iHOPALAS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:36:08 CEST 2016

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