ALAS1 aminolevulinate, delta-, synthase 1 [Homo sapiens (human)]
| Gene Symbol | ALAS1 |
| Entrez Gene ID | 211 |
| Full Name | aminolevulinate, delta-, synthase 1 |
| Synonyms | ALAS, ALAS3, ALASH, MIG4 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
3 3p21.1 |
| Summary | Delta-aminolevulinate synthase (ALAS; EC 2.3.1.37) catalyzes the condensation of glycine with succinyl-CoA to form delta-aminolevulinic acid. This nuclear-encoded mitochondrial enzyme is the first and rate-limiting enzyme in the mammalian heme biosynthetic pathway. There are 2 tissue-specific isozymes: a housekeeping enzyme encoded by the ALAS1 gene and an erythroid tissue-specific enzyme encoded by ALAS2 (MIM 301300).[supplied by OMIM]. |
| Disorder | MIM: 125290 |
| mRNA | NM_000688, 40316942 |
| Protein | NP_000679, 4502025 |
| Product | 5-aminolevulinate synthase, nonspecific, mitochondrial precursor |
| RefSeq Status | VALIDATED |
| mRNA | NM_199166, 40316938 |
| Protein | NP_954635, 40316939 |
| Product | 5-aminolevulinate synthase, nonspecific, mitochondrial precursor |
| RefSeq Status | VALIDATED |
| hsa00860 | Porphyrin and chlorophyll metabolism |
| hsa01100 | Metabolic pathways |
| hsa00260 | Glycine, serine and threonine metabolism |
WikiPathways
| WP561 | Heme Biosynthesis |
Pathway Interaction Database
| hnf3bpathway | FOXA2 and FOXA3 transcription factor networks |
Reactome
| REACT_9465 | Heme biosynthesis |
| REACT_9431 | Metabolism of porphyrins |
| Homo sapiens (human) | ALAS1 | NP_000679.1 |
| Pan troglodytes (chimpanzee) | ALAS1 | XP_001171508.1 |
| Canis lupus familiaris (dog) | ALAS1 | XP_533804.2 |
| Bos taurus (cattle) | ALAS1 | NP_001094624.1 |
| Mus musculus (house mouse) | Alas1 | NP_065584.1 |
| Gallus gallus (chicken) | ALAS1 | NP_001018012.1 |
| Danio rerio (zebrafish) | alas1 | NP_958444.1 |
| Drosophila melanogaster (fruit fly) | Alas | NP_477281.1 |
| ID | Name | Evidence |
| GO:0006778 | porphyrin metabolic process | TAS |
| GO:0006783 | heme biosynthetic process | TAS |
| GO:0009058 | biosynthetic process | IEA |
| GO:0033014 | tetrapyrrole biosynthetic process | IEA |
Component
| ID | Name | Evidence |
| GO:0005739 | mitochondrion | IEA |
| GO:0005759 | mitochondrial matrix | TAS |
Function
| ID | Name | Evidence |
| GO:0003870 | 5-aminolevulinate synthase activity | IEA |
| GO:0008415 | acyltransferase activity | IEA |
| GO:0016769 | transferase activity, transferring nitrogenous groups | IEA |
| GO:0030170 | pyridoxal phosphate binding | IEA |
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