Sequence in raw or FASTA format:
ALAS1 aminolevulinate, delta-, synthase 1 [
Homo sapiens (human)]
Gene Symbol ALAS1
Entrez Gene ID
Full Name aminolevulinate, delta-, synthase 1
Synonyms ALAS, ALAS3, ALASH, MIG4
General protein information
Gene Type protein-coding
Homo sapiens (human)
Chromosome:3 Map Location:3p21.1
Summary This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011].
hsa00260 Glycine, serine and threonine metabolism
hsa00860 Porphyrin and chlorophyll metabolism
Pathway Interaction Database
ID Name Evidence
GO:0006778 porphyrin-containing compound metabolic process TAS
GO:0006782 protoporphyrinogen IX biosynthetic process IEA
GO:0006783 heme biosynthetic process TAS
GO:0044255 cellular lipid metabolic process TAS
GO:0044281 small molecule metabolic process TAS
ID Name Evidence
GO:0003870 5-aminolevulinate synthase activity IEA
GO:0030170 pyridoxal phosphate binding IEA
Related articles in PubMed Nuclear receptor 5A (NR5A) family regulates 5-aminolevulinic acid synthase 1 (ALAS1) gene expression in steroidogenic cells. Ju Y, et al. Endocrinology, 2012 Nov. PMID 23024262. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. Udeshi ND, et al. Mol Cell Proteomics, 2012 May. PMID 22505724. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094. See all (42) citations in PubMed See citations in PubMed for homologs of this gene provided by HomoloGene
GeneRIFs: Gene References Into Functions
What's a GeneRIF?
These results indicate that ALAS1 is a novel NR5A-target gene and participates in steroid hormone production.
Title: Nuclear receptor 5A (NR5A) family regulates 5-aminolevulinic acid synthase 1 (ALAS1) gene expression in steroidogenic cells.
Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells.
Title: Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
In this study, we show significant reductions of the rate-limiting enzymes involved in heme biosynthesis, ALAS1 in the postmortem cortex of Alzheimer's disease subjects, providing additional evidence of abnormal heme homeostasis in Alzheimer's disease.
Title: Down-regulation of aminolevulinate synthase, the rate-limiting enzyme for heme biosynthesis in Alzheimer's disease.
Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin.
Title: Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin.
Expression of candidate genes HPRT1 and ALAS1 in malignant and non-malignant prostate tissue samples after microdissection.
Title: [Quantifying gene expression in prostate carcinoma. Which endogenous reference genes are suitable?].
REVIEW: mechanisms involving ALAS deficiency, point mutations, post translational processing, and complex formation with succinyl CoA synthetase subunit B in the pathogenesis of hereditary sideroblastic anemia.
Title: Multiple mechanisms for hereditary sideroblastic anemia.
REVIEW:active site and mechanistic analysis, protein folding, structure and function.
Title: Circular permutation of 5-aminolevulinate synthase as a tool to evaluate folding, structure and function.
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