ALAS1

Also known as ALAS, ALAS3, ALASH, MIG4, ALAS-H, 5'-aminolevulinate synthase 1

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

Gene data

ALAS1

Name: 5'-aminolevulinate synthase 1
Type: protein-coding
Position: 52,198,086–52,214,585 (+)
Aliases: ALAS, ALAS-H, ALAS3, ALASH, MIG4
Ensembl: ENSG00000023330
RefSeq RNA: NM_000688.6, NM_001304443.1, NM_001304444.1, NM_199166.2, XM_011533477.3
RefSeq protein: NP_000679.1, NP_001291372.1, NP_001291373.1, NP_954635.1, XP_011531779.1

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015].

Pathways

Glycine, serine and threonine metabolism - Homo sapiens (human)Porphyrin and chlorophyll metabolism - Homo sapiens (human)Metabolism Mitochondrial biogenesis Organelle biogenesis and maintenance Metabolism of porphyrins Heme biosynthesis PPARA activates gene expression Transcriptional activation of mitochondrial biogenesis Metabolism of proteins

via MyGene.info

Gene · Ensembl

5'-aminolevulinate synthase 1

Symbol: ALAS1
Biotype: Protein coding
Organism: Homo sapiens
Location: 3:52,198,085-52,214,620
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 55478
exact match: identifiers.org/ncbigene/211
genomic end: 52248343
genomic start: 52232102
cytogenetic location: 3p21.2

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

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.