ALAS1
Sign in to saveAlso 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.
In the Vinony graph
Vinony's link graph records 18 inbound references to ALAS1, and connects out to PubMed, human chromosome 3 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 3.
Vinony links it to 7 Wikipedia language editions.
Gene data
ALAS1- Name
- 5'-aminolevulinate synthase 1
- Type
- protein-coding
- Position
- 52,198,085–52,214,620 (+)
- 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].
Gene Ontology
Biological process
Molecular function
Pathways
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
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 55478
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/211
- genomic end
- 52248343
- genomic start
- 52232102
- chromosome
- human chromosome 3
- cytogenetic location
- 3p21.2
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- References
- External links
- Further reading
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.
Excerpted from Wikipedia’s “ALAS1” article, available under the CC BY-SA 4.0 licence.