ALAS1

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]

Description

5'-aminolevulinate synthase 1

Tissue specificity

Tissue enhanced (adrenal gland, liver)

Subcell location

Nucleoplasm, Mitochondria

Predicted location

Intracellular

Protein family

Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

3 (52198086 - 52214327)

Ensembl ID

ENSG00000023330  (ver. 103.38)

Orthologs

Mouse Alas1: ENSMUSG00000032786

UniProt

P13196

neXtProt

NX_P13196

Human splice variants
Mouse splice variants

Protein structure