ALAS1

Last updated
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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]
Wikidata
View/Edit Human View/Edit Mouse

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.

Contents

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]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000023330 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032786 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Bishop DF, Henderson AS, Astrin KH (June 1990). "Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome". Genomics. 7 (2): 207–14. doi:10.1016/0888-7543(90)90542-3. PMID   2347585.
  6. 1 2 "Entrez Gene: Delta-aminolevulinate synthase 1".
  7. Okano, S; Zhou, L; Kusaka, T; Shibata, K; Shimizu, K; Gao, X; Kikuchi, Y; Togashi, Y; Hosoya, T; Takahashi, S; Nakajima, O; Yamamoto, M (January 2010). "Indispensable function for embryogenesis, expression and regulation of the nonspecific form of the 5-aminolevulinate synthase gene in mouse". Genes to Cells. 15 (1): 77–89. doi: 10.1111/j.1365-2443.2009.01366.x . PMID   20015225. S2CID   25018156.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.