Bos taurus Gene: ALAS2
Summary
InnateDB Gene IDBG-637598.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALAS2
Gene Name 5-aminolevulinate synthase, erythroid-specific, mitochondrial
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000013178
Encoded Proteins
5-aminolevulinate synthase, erythroid-specific, mitochondrial
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:97908616-97935775
Strand Reverse strand
Band
Transcripts
ENSBTAT00000017538 ENSBTAP00000017538
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0003870 5-aminolevulinate synthase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
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
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
Metabolism of porphyrins pathway
Heme biosynthesis pathway
Metabolism pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Heme biosynthesis pathway
Metabolism of porphyrins pathway
Metabolism pathway
Metabolism pathway
Heme biosynthesis pathway
Metabolism of porphyrins pathway
KEGG
Glycine, serine and threonine metabolism pathway
Porphyrin and chlorophyll metabolism pathway
Glycine, serine and threonine metabolism pathway
Porphyrin and chlorophyll metabolism pathway
INOH
Glycine Serine metabolism pathway
PID NCI
Cross-References
SwissProt Q3ZC31
TrEMBL
UniProt Splice Variant
Entrez Gene 511791
UniGene Bt.49467
RefSeq NM_001035103
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL BC102938
GenPept AAI02939
RNA Seq Atlas 511791