Wikipedia

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; OMA:ALAS1 - orthologs
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 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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000023330 – Ensembl, May 2017
  2. ^ a b c 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 2347585.207-14&rft.date=1990-06&rft_id=info:doi/10.1016/0888-7543(90)90542-3&rft_id=info:pmid/2347585&rft.aulast=Bishop&rft.aufirst=DF&rft.au=Henderson, AS&rft.au=Astrin, KH&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  6. ^ a b "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 25018156.77-89&rft.date=2010-01&rft_id=https://api.semanticscholar.org/CorpusID:25018156#id-name=S2CID&rft_id=info:pmid/20015225&rft_id=info:doi/10.1111/j.1365-2443.2009.01366.x&rft.aulast=Okano&rft.aufirst=S&rft.au=Zhou, L&rft.au=Kusaka, T&rft.au=Shibata, K&rft.au=Shimizu, K&rft.au=Gao, X&rft.au=Kikuchi, Y&rft.au=Togashi, Y&rft.au=Hosoya, T&rft.au=Takahashi, S&rft.au=Nakajima, O&rft.au=Yamamoto, M&rft_id=https://doi.org/10.1111%2Fj.1365-2443.2009.01366.x&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
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Further reading

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  • Goodfellow BJ, Dias JS, Ferreira GC, et al. (2001). "The solution structure and heme binding of the presequence of murine 5-aminolevulinate synthase". FEBS Lett. 505 (2): 325–31. doi:10.1016/S0014-5793(01)02818-6. PMID 11566198. S2CID 34879759.325-31&rft.date=2001&rft_id=https://api.semanticscholar.org/CorpusID:34879759#id-name=S2CID&rft_id=info:pmid/11566198&rft_id=info:doi/10.1016/S0014-5793(01)02818-6&rft.aulast=Goodfellow&rft.aufirst=BJ&rft.au=Dias, JS&rft.au=Ferreira, GC&rft_id=https://doi.org/10.1016%2FS0014-5793%2801%2902818-6&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Cortesão E, Vidan J, Pereira J, et al. (2004). "Onset of X-linked sideroblastic anemia in the fourth decade". Haematologica. 89 (10): 1261–3. PMID 15477213.1261-3&rft.date=2004&rft_id=info:pmid/15477213&rft.aulast=Cortesão&rft.aufirst=E&rft.au=Vidan, J&rft.au=Pereira, J&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • May BK, Bhasker CR, Bawden MJ, Cox TC (1990). "Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis". Mol. Biol. Med. 7 (5): 405–21. PMID 2095458.405-21&rft.date=1990&rft_id=info:pmid/2095458&rft.aulast=May&rft.aufirst=BK&rft.au=Bhasker, CR&rft.au=Bawden, MJ&rft.au=Cox, TC&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Dwyer BE, Smith MA, Richardson SL, et al. (2009). "Down-Regulation of Aminolevulinate Synthase, the Rate-Limiting Enzyme for Heme Biosynthesis in Alzheimer's Disease". Neurosci. Lett. 460 (2): 180–4. doi:10.1016/j.neulet.2009.05.058. PMC 2743886. PMID 19477221.180-4&rft.date=2009&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2743886#id-name=PMC&rft_id=info:pmid/19477221&rft_id=info:doi/10.1016/j.neulet.2009.05.058&rft.aulast=Dwyer&rft.aufirst=BE&rft.au=Smith, MA&rft.au=Richardson, SL&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2743886&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Furuyama K, Sassa S (2002). "Multiple mechanisms for hereditary sideroblastic anemia". Cell. Mol. Biol. (Noisy-le-grand). 48 (1): 5–10. PMID 11929048.5-10&rft.date=2002&rft_id=info:pmid/11929048&rft.aulast=Furuyama&rft.aufirst=K&rft.au=Sassa, S&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Guberman AS, Scassa ME, Cánepa ET (2005). "Repression of 5-aminolevulinate synthase gene by the potent tumor promoter, TPA, involves multiple signal transduction pathways". Arch. Biochem. Biophys. 436 (2): 285–96. doi:10.1016/j.abb.2005.02.011. hdl:11336/99172. PMID 15797241.285-96&rft.date=2005&rft_id=info:hdl/11336/99172&rft_id=info:pmid/15797241&rft_id=info:doi/10.1016/j.abb.2005.02.011&rft.aulast=Guberman&rft.aufirst=AS&rft.au=Scassa, ME&rft.au=Cánepa, ET&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Roberts AG, Elder GH (2001). "Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes". Biochim. Biophys. Acta. 1518 (1–2): 95–105. doi:10.1016/s0167-4781(01)00187-7. PMID 11267664.1–2&rft.pages=95-105&rft.date=2001&rft_id=info:doi/10.1016/s0167-4781(01)00187-7&rft_id=info:pmid/11267664&rft.aulast=Roberts&rft.aufirst=AG&rft.au=Elder, GH&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Szafranski K, Schindler S, Taudien S, et al. (2007). "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns". Genome Biol. 8 (8): R154. doi:10.1186/gb-2007-8-8-r154. PMC 2374985. PMID 17672918.
  • Scassa ME, Guberman AS, Ceruti JM, Cánepa ET (2004). "Hepatic nuclear factor 3 and nuclear factor 1 regulate 5-aminolevulinate synthase gene expression and are involved in insulin repression". J. Biol. Chem. 279 (27): 28082–92. doi:10.1074/jbc.M401792200. hdl:20.500.12110/paper_00219258_v279_n27_p28082_Scassa. PMID 15123725.28082-92&rft.date=2004&rft_id=info:hdl/20.500.12110/paper_00219258_v279_n27_p28082_Scassa&rft_id=info:pmid/15123725&rft_id=info:doi/10.1074/jbc.M401792200&rft.aulast=Scassa&rft.aufirst=ME&rft.au=Guberman, AS&rft.au=Ceruti, JM&rft.au=Cánepa, ET&rft_id=https://doi.org/10.1074%2Fjbc.M401792200&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Imabayashi H, Mori T, Gojo S, et al. (2003). "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Exp. Cell Res. 288 (1): 35–50. doi:10.1016/S0014-4827(03)00130-7. PMID 12878157.35-50&rft.date=2003&rft_id=info:doi/10.1016/S0014-4827(03)00130-7&rft_id=info:pmid/12878157&rft.aulast=Imabayashi&rft.aufirst=H&rft.au=Mori, T&rft.au=Gojo, S&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Fujii H, Takahashi T, Matsumi M, et al. (2004). "Increased heme oxygenase-1 and decreased delta-aminolevulinate synthase expression in the liver of patients with acute liver failure". Int. J. Mol. Med. 14 (6): 1001–5. doi:10.3892/ijmm.14.6.1001. PMID 15547665.1001-5&rft.date=2004&rft_id=info:doi/10.3892/ijmm.14.6.1001&rft_id=info:pmid/15547665&rft.aulast=Fujii&rft.aufirst=H&rft.au=Takahashi, T&rft.au=Matsumi, M&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Zheng J, Shan Y, Lambrecht RW, et al. (2008). "Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin". Mol. Cell. Biochem. 319 (1–2): 153–61. doi:10.1007/s11010-008-9888-0. PMID 18719978. S2CID 33770538.1–2&rft.pages=153-61&rft.date=2008&rft_id=https://api.semanticscholar.org/CorpusID:33770538#id-name=S2CID&rft_id=info:pmid/18719978&rft_id=info:doi/10.1007/s11010-008-9888-0&rft.aulast=Zheng&rft.aufirst=J&rft.au=Shan, Y&rft.au=Lambrecht, RW&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Roberts AG, Redding SJ, Llewellyn DH (2005). "An alternatively-spliced exon in the 5'-UTR of human ALAS1 mRNA inhibits translation and renders it resistant to haem-mediated decay". FEBS Lett. 579 (5): 1061–6. doi:10.1016/j.febslet.2004.12.080. PMID 15710391. S2CID 32462861.1061-6&rft.date=2005&rft_id=https://api.semanticscholar.org/CorpusID:32462861#id-name=S2CID&rft_id=info:pmid/15710391&rft_id=info:doi/10.1016/j.febslet.2004.12.080&rft.aulast=Roberts&rft.aufirst=AG&rft.au=Redding, SJ&rft.au=Llewellyn, DH&rft_id=https://doi.org/10.1016%2Fj.febslet.2004.12.080&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.2121-7&rft.date=2004&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928#id-name=PMC&rft_id=info:pmid/15489334&rft_id=info:doi/10.1101/gr.2596504&rft.aulast=Gerhard&rft.aufirst=DS&rft.au=Wagner, L&rft.au=Feingold, EA&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Jung M, Ohl F, Stephan C, et al. (2007). "[Quantifying gene expression in prostate carcinoma. Which endogenous reference genes are suitable?]". Urologe A. 46 (9): 1083–4. doi:10.1007/s00120-007-1436-0. PMID 17628775. S2CID 11640176.1083-4&rft.date=2007&rft_id=https://api.semanticscholar.org/CorpusID:11640176#id-name=S2CID&rft_id=info:pmid/17628775&rft_id=info:doi/10.1007/s00120-007-1436-0&rft.aulast=Jung&rft.aufirst=M&rft.au=Ohl, F&rft.au=Stephan, C&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Guberman AS, Scassa ME, Giono LE, et al. (2003). "Inhibitory effect of AP-1 complex on 5-aminolevulinate synthase gene expression through sequestration of cAMP-response element protein (CRE)-binding protein (CBP) coactivator". J. Biol. Chem. 278 (4): 2317–26. doi:10.1074/jbc.M205057200. hdl:20.500.12110/paper_00219258_v278_n4_p2317_Guberman. PMID 12433930.2317-26&rft.date=2003&rft_id=info:hdl/20.500.12110/paper_00219258_v278_n4_p2317_Guberman&rft_id=info:pmid/12433930&rft_id=info:doi/10.1074/jbc.M205057200&rft.aulast=Guberman&rft.aufirst=AS&rft.au=Scassa, ME&rft.au=Giono, LE&rft_id=https://doi.org/10.1074%2Fjbc.M205057200&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.16899-903&rft.date=2002&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241#id-name=PMC&rft_id=info:pmid/12477932&rft_id=info:doi/10.1073/pnas.242603899&rft_id=info:bibcode/2002PNAS...9916899M&rft.aulast=Strausberg&rft.aufirst=RL&rft.au=Feingold, EA&rft.au=Grouse, LH&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Ferreira GC, Cheltsov AV (2002). "Circular permutation of 5-aminolevulinate synthase as a tool to evaluate folding, structure and function". Cell. Mol. Biol. (Noisy-le-grand). 48 (1): 11–6. PMID 11929042.11-6&rft.date=2002&rft_id=info:pmid/11929042&rft.aulast=Ferreira&rft.aufirst=GC&rft.au=Cheltsov, AV&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">
  • Tsang HT, Connell JW, Brown SE, et al. (2006). "A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex". Genomics. 88 (3): 333–46. doi:10.1016/j.ygeno.2006.04.003. PMID 16730941.333-46&rft.date=2006&rft_id=info:doi/10.1016/j.ygeno.2006.04.003&rft_id=info:pmid/16730941&rft.aulast=Tsang&rft.aufirst=HT&rft.au=Connell, JW&rft.au=Brown, SE&rfr_id=info:sid/en.wikipedia.org:ALAS1" class="Z3988">

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