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ALAS1

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
ALAS1
Identifiers
AliasesALAS1, ALAS, ALAS3, ALASH, MIG4, ALAS-H, 5'-aminolevulinate synthase 1
External IDsOMIM:125290;MGI:87989;HomoloGene:55478;GeneCards:ALAS1;OMA:ALAS1 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for ALAS1
Genomic location for ALAS1
Band3p21.2Start52,198,086bp[1]
End52,214,327bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for ALAS1
Genomic location for ALAS1
Band9|9 F1Start106,110,654bp[2]
End106,125,853bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right adrenal cortex

  • left adrenal gland

  • left adrenal cortex

  • oocyte

  • secondary oocyte

  • right lobe of liver

  • right ventricle

  • myocardium of left ventricle

  • mucosa of transverse colon

  • apex of heart
Top expressed in
  • adrenal gland

  • right kidney

  • right lung

  • right lung lobe

  • lacrimal gland

  • brown adipose tissue

  • cardiac muscle tissue of left ventricle

  • muscle of thigh

  • right ventricle

  • granulocyte
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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: 106.11 – 106.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Delta-aminolevulinate synthase 1 also known asALAS1 is aprotein that in humans is encoded by theALAS1 gene.[5][6] ALAS1 is anaminolevulinic acid synthase.

Delta-aminolevulinate synthase catalyzes the condensation ofglycine withsuccinyl-CoA to formdelta-aminolevulinic acid. This nuclear-encodedmitochondrial 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 byALAS2.[6]

Mice lacking this gene exhibit embryonic lethality, indicating that ALAS is essential for early embryogenesis.[7]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000023330Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000032786Ensembl, 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. ^ab"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.

External links

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Further reading

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This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.


Enzymes involved in themetabolism ofheme andporphyrin
Porphyrin biosynthesis
early mitochondrial:
cytosolic:
late mitochondrial:
Heme degradation
tobile
spleen:
liver:


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