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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: 5-aminolevulinate synthase
Gene Tree: Alas2

Human homologs

Human Homolog		ALAS2, aminolevulinate, delta-, 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:55035488-55057497 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human ALAS2

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

Homozygous mutation of this gene results in embryonic lethality and severe anemia due to arrest of fetal hematopoiesis.

 

Gene Ontology (GO) classifications

All GO classifications: (24 annotations)

Process	biosynthetic process, cellular iron ion homeostasis, ...
Component	mitochondrial inner membrane, mitochondrial matrix, ...
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)
Theiler Stages: 15, 20, 22, 23, 28

Assay Type	Results
RNA in situ	94
RT-PCR	52

cDNA source data(100)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(106) cDNA(101) Primer pair(4) Other(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000019150 (Evidence)
Ensembl Gene Model	ENSMUSG00000025270 (Evidence)
Entrez Gene	11656 (Evidence)
UniGene	302724
DFCI	TC1576134, TC1605495
DoTS	DT.91291809, DT.94158502
NIA Mouse Gene Index	U020302
EC	2.3.1.37
PDB	1H7D, 1H7J
Consensus CDS Project	CCDS41173.1, CCDS53220.1
International Mouse Knockout Project Status	Alas2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019150	VEGA Gene Model | MGI Sequence Detail	23264	C57BL/6J
transcript	OTTMUST00000045893	VEGA | MGI Sequence Detail	2037	Not Applicable
polypeptide	OTTMUSP00000020679	VEGA | MGI Sequence Detail	587	Not Applicable

All sequences(42) RefSeq(4) UniProt(6)

Polymorphisms

RFLP(4) : SNPs(137 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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