ALAS1

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.

ALAS1
Identifiers
AliasesALAS1, ALAS, ALAS3, ALASH, MIG4, ALAS-H, 5'-aminolevulinate synthase 1
External IDsOMIM: 125290 MGI: 87989 HomoloGene: 55478 GeneCards: ALAS1
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3p21.2Start52,198,086 bp[1]
End52,214,327 bp[1]
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 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]

References

  1. GRCh38: Ensembl release 89: ENSG00000023330 - Ensembl, May 2017
  2. 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. "Entrez Gene: Delta-aminolevulinate synthase 1".

Further reading

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


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