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ALAS1 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]
Protein type: Amino Acid Metabolism - glycine, serine and threonine; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; EC; Mitochondrial; Transferase
Chromosomal Location of Human Ortholog: 3p21.2
Cellular Component: cytosol; mitochondrial matrix; mitochondrion; nucleoplasm
Molecular Function: 5-aminolevulinate synthase activity; identical protein binding; protein binding
Biological Process: heme biosynthetic process; mitochondrion organization and biogenesis; regulation of lipid metabolic process
Reference #:  P13196 (UniProtKB)
Alt. Names/Synonyms: 5-aminolevulinate synthase, nonspecific, mitochondrial; 5-aminolevulinic acid synthase 1; ALAS; ALAS-H; ALAS1; ALAS3; ALASH; aminolevulinate, delta-, synthase 1; Delta-ALA synthase 1; Delta-aminolevulinate synthase 1; HEM1; MIG4; migration-inducing protein 4
Gene Symbols: ALAS1
Molecular weight: 70,581 Da
Basal Isoelectric point: 8.74  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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