ALAS1 (5-aminolevulinate synthase 1)

2007-02-01 Affiliation

Identity

HGNC

ALAS1

LOCATION

3p21.2

LOCUSID

211

ALIAS

ALAS,ALAS-H,ALAS3,ALASH,MIG4

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000023330	ENST00000310271	P13196
ENSG00000023330	ENST00000310271	Q5JAM2
ENSG00000023330	ENST00000394965	P13196
ENSG00000023330	ENST00000394965	Q5JAM2
ENSG00000023330	ENST00000459884	H7C5B0
ENSG00000023330	ENST00000469224	P13196
ENSG00000023330	ENST00000469224	Q5JAM2
ENSG00000023330	ENST00000484952	P13196
ENSG00000023330	ENST00000484952	Q5JAM2
ENSG00000023330	ENST00000493402	H7C4H7

Expression (GTEx)

100

200

300

400

500

600

700

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Glycine, serine and threonine metabolism	KEGG	ko00260
Porphyrin and chlorophyll metabolism	KEGG	ko00860
Glycine, serine and threonine metabolism	KEGG	hsa00260
Porphyrin and chlorophyll metabolism	KEGG	hsa00860
Metabolic pathways	KEGG	hsa01100
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Mitochondrial biogenesis	REACTOME	R-HSA-1592230
Transcriptional activation of mitochondrial biogenesis	REACTOME	R-HSA-2151201
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	REACTOME	R-HSA-400206
PPARA activates gene expression	REACTOME	R-HSA-1989781
Metabolism of porphyrins	REACTOME	R-HSA-189445
Heme biosynthesis	REACTOME	R-HSA-189451

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
34704252	2021	Heme-dependent recognition of 5-aminolevulinate synthase by the human mitochondrial molecular chaperone ClpX.	3
34704252	2021	Heme-dependent recognition of 5-aminolevulinate synthase by the human mitochondrial molecular chaperone ClpX.	3
32270771	2020	Inhibition of ALAS1 activity exerts anti-tumour effects on colorectal cancer in vitro.	7
33199206	2020	5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.	5
32270771	2020	Inhibition of ALAS1 activity exerts anti-tumour effects on colorectal cancer in vitro.	7
33199206	2020	5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.	5
28874591	2017	Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.	41
28874591	2017	Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.	41
27496948	2016	Novel Mechanisms for Heme-dependent Degradation of ALAS1 Protein as a Component of Negative Feedback Regulation of Heme Biosynthesis.	52
27496948	2016	Novel Mechanisms for Heme-dependent Degradation of ALAS1 Protein as a Component of Negative Feedback Regulation of Heme Biosynthesis.	52
26062020	2015	Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.	23
26062020	2015	Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.	23
23024262	2012	Nuclear receptor 5A (NR5A) family regulates 5-aminolevulinic acid synthase 1 (ALAS1) gene expression in steroidogenic cells.	8
23024262	2012	Nuclear receptor 5A (NR5A) family regulates 5-aminolevulinic acid synthase 1 (ALAS1) gene expression in steroidogenic cells.	8
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.	5

Citation

Dessen P

ALAS1 (5-aminolevulinate synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45873/teaching-explorer/tumors-explorer/css/card-gene.css