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ALAS2 (aminolevulinate, delta-, synthase 2)

Identity

Other namesALAS-E
ALASE
ANH1
ASB
FLJ93603
XLSA
HGNC (Hugo) ALAS2
Location Xp11.21
Location_base_pair Starts at 55035489 and ends at 55057497 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)ALAS2   397
Entrez_Gene (NCBI)ALAS2  212  aminolevulinate, delta-, synthase 2
Cards
GeneCards (Weizmann)ALAS2
Ensembl (Hinxton)ENSG00000158578 [Gene_View]  ALAS2 [Vega]
AceView (NCBI)ALAS2
Genatlas (Paris)ALAS2
euGene (Indiana)212
SOURCE (Stanford)NM_000032 NM_001037967 NM_001037968
Gene Expression (Array Express) ENSG00000158578
Genomic and cartography
GoldenPath (UCSC)ALAS2  -  Xp11.21   chrX:55035489-55057497 -  Xp11.21   [Description]    (hg19-Feb_2009)
EnsemblALAS2 - Xp11.21 [CytoView]
Mapping of homologs : NCBIALAS2 [Mapview]
OMIM300751   300752   301300   
Gene and transcription
Gene : Genbank (Entrez)AA778169 AK290565 AK291589 AK313118 BC030230
Reference sequence (RefSeq transcript) :SRSNM_000032 NM_001037967 NM_001037968
Reference transcript : EntrezNM_000032 NM_001037967 NM_001037968
RefSeq genomic : SRSAC_000066 AC_000155 NC_000023 NG_008983 NT_011630 NW_001842370 NW_927709
RefSeq genomic : EntrezAC_000066 AC_000155 NC_000023 NG_008983 NT_011630 NW_001842370 NW_927709
Consensus coding sequences : CCDS NCBIALAS2
Cluster EST : UnigeneHs.555936 [ SRS ] Hs.555936 [ NCBI ]
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP22557 (SRS) P22557 (Expasy) P22557 (Uniprot)
With graphics : InterProP22557
Splice isoforms : VarSplice FASTAP22557(VarSplice FASTA)
Domaine pattern : Prosite (SRS)AA_TRANSFER_CLASS_2 (PS00599)   
Domain pattern : Prosite (Expaxy)AA_TRANSFER_CLASS_2 (PS00599)   
Domains : Interpro (SRS)4pyrrol_synth_NH2levulA_synth    Aminotrans_II_pyridoxalP_BS    Aminotransferase_I/II    PyrdxlP-dep_Trfase_major_dom    PyrdxlP-dep_Trfase_major_sub1   
Domains : Interpro (EBI)4pyrrol_synth_NH2levulA_synth    Aminotrans_II_pyridoxalP_BS    Aminotransferase_I/II    PyrdxlP-dep_Trfase_major_dom    PyrdxlP-dep_Trfase_major_sub1   
Related proteins : CluSTrP22557
Domain families : Pfam SRSAminotran_1_2 (PF00155)   
Domain families : Pfam SangerAminotran_1_2 (PF00155)   
Domain families : Pfam NCBIpfam00155   
Blocks (Seattle)P22557
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
Human Protein AtlasENSG00000158578
HPRD02356
Protein Interaction databases
DIP (DOE-UCLA)P22557
IntAct (EBI)P22557
FunCoupENSG00000158578
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIALAS2
SNP : GeneSNP UtahALAS2
SNP : HGBaseALAS2
Genetic variants : HAPMAPALAS2
Somatic Mutations in Cancer : COSMICALAS2 
Mutations and Diseases : HGMDALAS2
Hereditary diseases : OMIM300751    300752    301300   
Hereditary diseases : GENETests300751    300752    301300   
Diseases : Genetic AssociationALAS2
General knowledge
Homologs : HomoloGeneALAS2
Homology/Alignments : Family Browser UCSCALAS2
Phylogenetic Trees/Animal Genes : TreeFamALAS2
Catalytic activity : Enzyme2.3.1.37 [ Enzyme-Expasy ]   2.3.1.37 [ Enzyme-SRS ]   2.3.1.37 [ IntEnz-EBI ]   2.3.1.37 [ BRENDA ]   2.3.1.37 [ KEGG ]   
Chemical/Protein Interactions : CTD212
Keywords Ontology : AmiGOresponse to hypoxia  5-aminolevulinate synthase activity  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  porphyrin metabolic process  heme biosynthetic process  heme biosynthetic process  cellular iron ion homeostasis  acyltransferase activity  biosynthetic process  glycine binding  transferase activity, transferring nitrogenous groups  pyridoxal phosphate binding  erythrocyte differentiation  erythrocyte differentiation  oxygen homeostasis  tetrapyrrole biosynthetic process  hemoglobin biosynthetic process  coenzyme binding  
Keywords Ontology : EGO-EBIresponse to hypoxia  5-aminolevulinate synthase activity  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  porphyrin metabolic process  heme biosynthetic process  heme biosynthetic process  cellular iron ion homeostasis  acyltransferase activity  biosynthetic process  glycine binding  transferase activity, transferring nitrogenous groups  pyridoxal phosphate binding  erythrocyte differentiation  erythrocyte differentiation  oxygen homeostasis  tetrapyrrole biosynthetic process  hemoglobin biosynthetic process  coenzyme binding  
Pathways : BIOCARTAHemoglobin's Chaperone [Genes]   
Pathways : KEGGGlycine, serine and threonine metabolism
Other databases
Probes
Probes : ImagenesALAS2 Related clones (RZPD - Berlin)
Literature
PubMed31 Pubmed reference(s) in Entrez
PubGeneALAS2
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
Updated05-2010Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 9 11:21:02 CEST 2010
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