Reference on EC 2.3.1.37 - 5-aminolevulinate synthase and Organism(s) Homo sapiens
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AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Bishop, D.F.; Henderson, A.S.; Astrin, K.H.
Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome
Genomics
7
207-214
1990
Homo sapiens
Jordan, P.M.; Shemin, D.
delta-Aminolevulinic acid synthetase
The Enzymes, 3rd Ed. (Boyer, P. D. , ed. )
7
339-356
1972
Saccharomyces cerevisiae, Cavia porcellus, Gallus gallus, Oryctolagus cuniculus, Homo sapiens, no activity in Chromatium sp., Propionibacterium freudenreichii subsp. shermanii, Rattus norvegicus, Cereibacter sphaeroides, Rhodospirillum rubrum, Spinacia oleracea, Novispirillum itersonii
-
Ferreira, G.C.; Gong, J.
5-Aminolevulinate synthase and the first step of heme biosynthesis
J. Bioenerg. Biomembr.
27
151-159
1995
Agrobacterium tumefaciens, Aspergillus nidulans, Bradyrhizobium japonicum, Saccharomyces cerevisiae, Gallus gallus, Euglena gracilis, Homo sapiens, Paracoccus denitrificans, Mus musculus, Rattus norvegicus, Sinorhizobium meliloti, Rhodobacter capsulatus, Cereibacter sphaeroides
Dailey, H.A.; Dailey, T.A.
Expression and purification of mammalian 5-aminolevulinate synthase
Methods Enzymol.
281
336-340
1997
Gallus gallus, Homo sapiens, Mus musculus, Rattus norvegicus
Dailey, T.A.; Woodruff, J.H.; Dailey, H.A.
Examination of mitochondrial protein targeting of haem synthetic enzymes: in vivo identification of three functional haem-responsive motifs in 5-aminolaevulinate synthase
Biochem. J.
386
381-386
2005
Homo sapiens (P13196)
Shoolingin-Jordan, P.M.; Al-Daihan, S.; Alexeev, D.; Baxter, R.L.; Bottomley, S.S.; Kahari, I.D.; Roy, I.; Sarwar, M.; Sawyer, L.; Wang, S.F.
5-Aminolevulinic acid synthase: mechanism, mutations and medicine
Biochim. Biophys. Acta
1647
361-366
2003
Homo sapiens, Cereibacter sphaeroides
Cox, T.C.; Sadlon, T.J.; Schwarz, Q.P.; Matthews, C.S.; Wise, P.D.; Cox, L.L.; Bottomley, S.S.; May, B.K.
The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis
Int. J. Biochem. Cell Biol.
36
281-295
2004
Homo sapiens
Guberman, A.S.; Scassa, M.E.; Canepa, E.T.
Repression of 5-aminolevulinate synthase gene by the potent tumor promoter, TPA, involves multiple signal transduction pathways
Arch. Biochem. Biophys.
436
285-296
2005
Homo sapiens
Abu-Farha, M.; Niles, J.; Willmore, W.G.
Erythroid-specific 5-aminolevulinate synthase protein is stabilized by low oxygen and proteasomal inhibition
Biochem. Cell Biol.
83
620-630
2005
Homo sapiens
Han, L.; Zhong, Y.; Huang, B.; Han, L.; Pan, L.; Xu, X.; Wang, X.; Huang, B.; Lu, J.
Sodium butyrate activates erythroid-specific 5-aminolevulinate synthase gene through Sp1 elements at its promoter
Blood Cells Mol. Dis.
41
148-153
2008
Homo sapiens (P22557)
Martini, C.N.; Romero, D.G.; Yanes, L.L.; Vila, M.d.e.l..C.
Induction of 5-aminolevulinate synthase by activators of steroid biosynthesis
Life Sci.
81
19-25
2007
Homo sapiens, Rattus norvegicus
Huang, Q.; Li, J.; Feng, W.; Xu, Y.; Huang, Z.; Lv, S.; Zhou, H.; Gao, L.
Erythroid 5-aminolevulinate synthase mediates the upregulation of membrane band 3 protein expression by iron
Cell Biochem. Funct.
28
122-125
2010
Homo sapiens (P22557)
du Plessis, N.; Kimberg, M.; Zaahl, M.G.; Sadie, A.; Venter, M.; van der Merwe, L.; Louw, A.; Warnich, L.
Functional analysis of the 5 regulatory region of the 5-aminolevulinate synthase (ALAS1) gene in response to estrogen
Cell. Mol. Biol.
55
20-30
2009
Homo sapiens
Kaneko, K.; Furuyama, K.; Aburatani, H.; Shibahara, S.
Hypoxia induces erythroid-specific 5-aminolevulinate synthase expression in human erythroid cells through transforming growth factor-beta signaling
FEBS J.
276
1370-1382
2009
Homo sapiens
Dwyer, B.E.; Smith, M.A.; Richardson, S.L.; Perry, G.; Zhu, X.
Down-regulation of aminolevulinate synthase, the rate-limiting enzyme for heme biosynthesis in Alzheimers disease
Neurosci. Lett.
460
180-184
2009
Homo sapiens
Zhang, F.L.; Shen, G.M.; Liu, X.L.; Wang, F.; Zhao, H.L.; Yu, J.; Zhang, J.W.
Hypoxic induction of human erythroid-specific sigma-aminolevulinate synthase mediated by hypoxia-inducible factor 1
Biochemistry
50
1194-1202
2011
Homo sapiens
Kadirvel, S.; Furuyama, K.; Harigae, H.; Kaneko, K.; Tamai, Y.; Ishida, Y.; Shibahara, S.
The carboxyl-terminal region of erythroid-specific 5-aminolevulinate synthase acts as an intrinsic modifier for its catalytic activity and protein stability
Exp. Hematol.
40
477-486.e1
2012
Homo sapiens
Fratz, E.J.; Clayton, J.; Hunter, G.A.; Ducamp, S.; Breydo, L.; Uversky, V.N.; Deybach, J.C.; Gouya, L.; Puy, H.; Ferreira, G.C.
Human erythroid 5-aminolevulinate synthase mutations associated with X-linked protoporphyria disrupt the conformational equilibrium and enhance product release
Biochemistry
54
5617-5631
2015
Homo sapiens (P22557), Homo sapiens
Bishop, D.F.; Tchaikovskii, V.; Nazarenko, I.; Desnick, R.J.
Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria
Mol. Med.
19
18-25
2013
Homo sapiens (P22557)
Fratz-Berilla, E.J.; Breydo, L.; Gouya, L.; Puy, H.; Uversky, V.N.; Ferreira, G.C.
Isoniazid inhibits human erythroid 5-aminolevulinate synthase Molecular mechanism and tolerance study with four X-linked protoporphyria patients
Biochim. Biophys. Acta
1863
428-439
2017
Homo sapiens (P22557), Homo sapiens
Barman-Aksoezen, J.; Halloy, F.; Iyer, P.S.; Schuemperli, D.; Minder, A.E.; Hall, J.; Minder, E.I.; Schneider-Yin, X.
Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria
Mol. Genet. Metab.
128
304-308
2019
Homo sapiens (P22557), Homo sapiens
Yien, Y.Y.; Ducamp, S.; van der Vorm, L.N.; Kardon, J.R.; Manceau, H.; Kannengiesser, C.; Bergonia, H.A.; Kafina, M.D.; Karim, Z.; Gouya, L.; Baker, T.A.; Puy, H.; Phillips, J.D.; Nicolas, G.; Paw, B.H.
Mutation in human CLPX elevates levels of delta-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria
Proc. Natl. Acad. Sci. USA
114
E8045-E8052
2017
Homo sapiens
