ALAS1

Delta-aminolevulinate synthase 1 also known as ALAS1 is a protein that in humans is encoded by the ALAS1 gene.^[5][6] ALAS1 is an aminolevulinic acid synthase.

AliasesALAS1, ALAS, ALAS3, ALASH, MIG4, ALAS-H, 5'-aminolevulinate synthase 1

External IDsOMIM: 125290; MGI: 87989; HomoloGene: 55478; GeneCards: ALAS1; OMA:ALAS1 - orthologs

Chr.Chromosome 3 (human)^[1]

End52,214,327 bp^[1]

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ALAS1
Identifiers
Aliases	ALAS1, ALAS, ALAS3, ALASH, MIG4, ALAS-H, 5'-aminolevulinate synthase 1
External IDs	OMIM: 125290; MGI: 87989; HomoloGene: 55478; GeneCards: ALAS1; OMA:ALAS1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p21.2 Start 52,198,086 bp[1] End 52,214,327 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 F1 Start 106,110,654 bp[2] End 106,125,853 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex left adrenal gland left adrenal cortex oocyte secondary oocyte right lobe of liver right ventricle myocardium of left ventricle mucosa of transverse colon apex of heart Top expressed in adrenal gland right kidney right lung right lung lobe lacrimal gland brown adipose tissue cardiac muscle tissue of left ventricle muscle of thigh right ventricle granulocyte More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity pyridoxal phosphate binding acyltransferase activity protein binding catalytic activity 5-aminolevulinate synthase activity identical protein binding Cellular component mitochondrial matrix mitochondrion nucleoplasm cytosol Biological process heme biosynthetic process mitochondrion organization metabolism protoporphyrinogen IX biosynthetic process biosynthesis tetrapyrrole biosynthetic process porphyrin-containing compound metabolic process regulation of lipid metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 211 11655 Ensembl ENSG00000023330 ENSMUSG00000032786 UniProt P13196 Q8VC19 RefSeq (mRNA) NM_000688 NM_001304443 NM_001304444 NM_199166 NM_001291835 NM_020559 RefSeq (protein) NP_000679 NP_001291372 NP_001291373 NP_954635 NP_001278764 NP_065584 Location (UCSC) Chr 3: 52.2 – 52.21 Mb Chr 9: 106.11 – 106.13 Mb PubMed search [3] [4]
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Delta-aminolevulinate synthase 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.^[6]

Mice lacking this gene exhibit embryonic lethality, indicating that ALAS is essential for early embryogenesis.^[7]