ALAS1 (5-aminolevulinate synthase 1)

2007-02-01  

Identity

HGNC
LOCATION
3p21.2
LOCUSID
ALIAS
ALAS,ALAS-H,ALAS3,ALASH,MIG4
FUSION GENES

Other Information

Locus ID:

NCBI: 211
MIM: 125290
HGNC: 396
Ensembl: ENSG00000023330

Variants:

dbSNP: 211
ClinVar: 211
TCGA: ENSG00000023330
COSMIC: ALAS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000023330ENST00000310271P13196
ENSG00000023330ENST00000310271Q5JAM2
ENSG00000023330ENST00000394965P13196
ENSG00000023330ENST00000394965Q5JAM2
ENSG00000023330ENST00000459884H7C5B0
ENSG00000023330ENST00000469224P13196
ENSG00000023330ENST00000469224Q5JAM2
ENSG00000023330ENST00000484952P13196
ENSG00000023330ENST00000484952Q5JAM2
ENSG00000023330ENST00000493402H7C4H7

Expression (GTEx)

0
100
200
300
400
500
600
700

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Porphyrin and chlorophyll metabolismKEGGko00860
Glycine, serine and threonine metabolismKEGGhsa00260
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolic pathwaysKEGGhsa01100
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781
Metabolism of porphyrinsREACTOMER-HSA-189445
Heme biosynthesisREACTOMER-HSA-189451

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
216595322011Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells.31
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
274969482016Novel Mechanisms for Heme-dependent Degradation of ALAS1 Protein as a Component of Negative Feedback Regulation of Heme Biosynthesis.17
187199782008Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin.16
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
288745912017Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.11
194772212009Down-regulation of aminolevulinate synthase, the rate-limiting enzyme for heme biosynthesis in Alzheimer's disease.9
157103912005An alternatively-spliced exon in the 5'-UTR of human ALAS1 mRNA inhibits translation and renders it resistant to haem-mediated decay.7

Citation

Dessen P

ALAS1 (5-aminolevulinate synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45873/alas1-(5-aminolevulinate-synthase-1)