ALAS1

ALAS1
Identifiers
AliasesALAS1, ALAS, ALAS3, ALASH, MIG4, ALAS-H, 5'-aminolevulinate synthase 1
External IDsOMIM: 125290 MGI: 87989 HomoloGene: 55478 GeneCards: ALAS1
Orthologs
SpeciesHumanMouse
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 MbChr 9: 106.23 – 106.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.

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 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.
  • Human ALAS1 genome location and ALAS1 gene details page in the UCSC Genome Browser.

Further reading

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


This article is issued from Offline. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.