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Alas2
Gene Detail
Symbol

Name
ID
Alas2
aminolevulinic acid synthase 2, erythroid
MGI:87990
Synonyms
5-aminolevulinate synthase, ALAS, Alas-2, ALASE, ALAS-E, erythroid-specific ALAS
Feature Type
protein coding gene
Genetic Map
Chromosome X
68.46 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
ChrX:150547375-150570638 bp, + strand
From VEGA annotation of GRCm38

  23264 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:17  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: 5-aminolevulinate synthase
Gene Tree: Alas2

Human
homologs
Human Homolog ALAS2, 5'-aminolevulinate synthase 2
NCBI Gene ID 212
neXtProt AC  NX_P22557
Human Synonyms  ALASE, ALAS-E, ANH1, ASB, XLDPP, XLEPP, XLSA
Human Chr (Location)  Xp11.21; chrX:55009055-55031064 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human ALAS2
Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Targeted(2)
 
Homozygous mutation of this gene results in embryonic lethality and severe anemia due to arrest of fetal hematopoiesis.
 
Interactions
Alas2 interacts with 35 markers (Mir15b, Mir26a-1, Mir26a-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process biosynthetic process, cellular iron ion homeostasis, ...
Component cell, mitochondrial inner membrane, ...
Function 5-aminolevulinate synthase activity, catalytic activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (21 records)
Data Summary: Results (146)    Tissues (142)    Images (4)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
RT-PCR 52
cDNA source data(100)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(106) cDNA(101) Primer pair(4) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000019150 (Evidence)
Ensembl Gene ModelENSMUSG00000025270 (Evidence)
Entrez Gene11656 (Evidence)
UniGene302724
DFCITC1576134, TC1605495
DoTSDT.91291809, DT.94158502
NIA Mouse Gene IndexU020302
EC2.3.1.37
PDB1H7D, 1H7J
Consensus CDS ProjectCCDS41173.1, CCDS53220.1
International Mouse Knockout Project StatusAlas2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019150 VEGA Gene Model | MGI Sequence Detail 23264 C57BL/6J ±  kb
transcript OTTMUST00000045893 VEGA | MGI Sequence Detail 2037 Not Applicable 
polypeptide OTTMUSP00000020679 VEGA | MGI Sequence Detail 587 Not Applicable 

For the selected sequences
All sequences(51) RefSeq(8) UniProt(11)
Polymorphisms
RFLP(4) : SNPs within 2kb(162 from dbSNP Build 137)    SNPs within 2kb including multiple locations(164)
Protein-related
information
ResourceIDDescription
InterPro IPR015118 5-aminolevulinate synthase presequence
InterPro IPR004839 Aminotransferase, class I/classII
InterPro IPR001917 Aminotransferase, class-II, pyridoxal-phosphate binding site
InterPro IPR015424 Pyridoxal phosphate-dependent transferase
InterPro IPR015421 Pyridoxal phosphate-dependent transferase, major region, subdomain 1
InterPro IPR015422 Pyridoxal phosphate-dependent transferase, major region, subdomain 2
InterPro IPR010961 Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase
Protein Ontology PR:000003917 5-aminolevulinate synthase, erythroid-specific, mitochondrial
References
(Earliest) J:8626 Schoenhaut DS, et al., Nucleotide sequence of mouse 5-aminolevulinic acid synthase cDNA and expression of its gene in hepatic and erythroid tissues. Gene. 1986;48(1):55-63
(Latest) J:186500 Kaneko H, et al., N- and C-terminal transactivation domains of GATA1 protein coordinate hematopoietic program. J Biol Chem. 2012 Jun 15;287(25):21439-49
All references(68)
Other
accession IDs
MGD-MRK-1269, MGD-MRK-1271

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory