Property Summary

NCBI Gene PubMed Count 40
Grant Count 18
R01 Count 8
Funding $3,682,084.56
PubMed Score 57.81
PubTator Score 229.22

Knowledge Summary

Patent

No data available

Expression

Gene RIF (21)

PMID Text
26062020 ALAS1 mRNA and activity were elevated approximately ~3- and 5-fold, and HMB synthase activity was approximately half-normal (~42%)
23024262 These results indicate that ALAS1 is a novel NR5A-target gene and participates in steroid hormone production.
21659532 Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells.
21048031 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19656447 The -853T variant functions as an enhancer in the presence of estrogen and speculates that the -1253A variant reduces transcription activity.
19477221 In this study, we show significant reductions of the rate-limiting enzymes involved in heme biosynthesis, ALAS1 in the postmortem cortex of Alzheimer's disease subjects, providing additional evidence of abnormal heme homeostasis in Alzheimer's disease.
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AA Sequence

MESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKETPPASEKDKT      1 - 70
AKAKVQQTPDGSQQSPDGTQLPSGHPLPATSQGTASKCPFLAAQMNQRGSSVFCKASLELQEDVQEMNAV     71 - 140
RKEVAETSAGPSVVSVKTDGGDPSGLLKNFQDIMQKQRPERVSHLLQDNLPKSVSTFQYDRFFEKKIDEK    141 - 210
KNDHTYRVFKTVNRRAHIFPMADDYSDSLITKKQVSVWCSNDYLGMSRHPRVCGAVMDTLKQHGAGAGGT    211 - 280
RNISGTSKFHVDLERELADLHGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHASMIQGIRNSR    281 - 350
VPKYIFRHNDVSHLRELLQRSDPSVPKIVAFETVHSMDGAVCPLEELCDVAHEFGAITFVDEVHAVGLYG    351 - 420
ARGGGIGDRDGVMPKMDIISGTLGKAFGCVGGYIASTSSLIDTVRSYAAGFIFTTSLPPMLLAGALESVR    421 - 490
ILKSAEGRVLRRQHQRNVKLMRQMLMDAGLPVVHCPSHIIPVRVADAAKNTEVCDELMSRHNIYVQAINY    491 - 560
PTVPRGEELLRIAPTPHHTPQMMNYFLENLLVTWKQVGLELKPHSSAECNFCRRPLHFEVMSEREKSYFS    561 - 630
GLSKLVSAQA                                                                631 - 640
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Text Mined References (40)

PMID Year Title
26062020 2015 Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.
25416956 2014 A proteome-scale map of the human interactome network.
23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
23024262 2012 Nuclear receptor 5A (NR5A) family regulates 5-aminolevulinic acid synthase 1 (ALAS1) gene expression in steroidogenic cells.
21926972 2011 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
21659532 2011 Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21048031 2011 Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
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