Mus musculus Gene: Alas2
Summary
InnateDB Gene IDBG-178061.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Alas2
Gene Name aminolevulinic acid synthase 2, erythroid
Synonyms ALAS; Alas-2; ALAS-E; ALASE
Species Mus musculus
Ensembl Gene ENSMUSG00000025270
Encoded Proteins
aminolevulinic acid synthase 2, erythroid
aminolevulinic acid synthase 2, erythroid
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000158578:
The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:150547375-150570638
Strand Forward strand
Band F3
Transcripts
ENSMUST00000066337 ENSMUSP00000066040
ENSMUST00000112715 ENSMUSP00000108335
ENSMUST00000134670
ENSMUST00000142474
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003870 5-aminolevulinate synthase activity
GO:0005515 protein binding
GO:0030170 pyridoxal phosphate binding
Biological Process
GO:0001666 response to hypoxia
GO:0006778 porphyrin-containing compound metabolic process
GO:0006782 protoporphyrinogen IX biosynthetic process
GO:0006783 heme biosynthetic process
GO:0006879 cellular iron ion homeostasis
GO:0008152 metabolic process
GO:0009058 biosynthetic process
GO:0030218 erythrocyte differentiation
GO:0033014 tetrapyrrole biosynthetic process
GO:0042541 hemoglobin biosynthetic process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Metabolism pathway
Heme biosynthesis pathway
Metabolism of porphyrins pathway
KEGG
Glycine, serine and threonine metabolism pathway
Porphyrin and chlorophyll metabolism pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Heme biosynthesis pathway
Metabolism of porphyrins pathway
Metabolism pathway
Metabolism of porphyrins pathway
Heme biosynthesis pathway
Metabolism pathway
KEGG
Glycine, serine and threonine metabolism pathway
Porphyrin and chlorophyll metabolism pathway
INOH
Glycine Serine metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL A2AFM1 Q8R1G3
UniProt Splice Variant
Entrez Gene 11656
UniGene Mm.302724
RefSeq NM_001102446 XM_006528690 NM_009653 XM_006528689
OMIM
CCDS CCDS53220 CCDS41173
HPRD
IMGT
MGI ID MGI:87990
MGI Symbol Alas2
EMBL AL672150 AL808140 BC024575
GenPept AAH24575
RNA Seq Atlas 11656