ALAS1 (5'-aminolevulinate synthase 1)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
211
Gene name Gene Name - the full gene name approved by the HGNC.
5'-aminolevulinate synthase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALAS1
Synonyms (NCBI Gene) Gene synonyms aliases
ALAS, ALAS-H, ALAS3, ALASH, MIG4
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT042490 hsa-miR-423-3p CLASH 23622248
MIRT042198 hsa-miR-484 CLASH 23622248
MIRT776862 hsa-miR-410 CLIP-seq
MIRT776863 hsa-miR-4282 CLIP-seq
MIRT776864 hsa-miR-889 CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
NFIC Unknown 15123725
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IBA 21873635
GO:0003870 Function 5-aminolevulinate synthase activity IBA 21873635
GO:0005515 Function Protein binding IPI 21516116, 25416956, 25910212, 28514442, 31515488, 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
125290 396 ENSG00000023330
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P13196
Protein name 5-aminolevulinate synthase, non-specific, mitochondrial (ALAS-H) (EC 2.3.1.37) (5-aminolevulinic acid synthase 1) (Delta-ALA synthase 1) (Delta-aminolevulinate synthase 1)
Protein function Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09029 Preseq_ALAS 2 → 138 5-aminolevulinate synthase presequence Domain
PF00155 Aminotran_1_2 243 → 590 Aminotransferase class I and II Domain
Sequence
Sequence length 640
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Glycine, serine and threonine metabolism
Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors 		  Heme biosynthesis
PPARA activates gene expression
Transcriptional activation of mitochondrial biogenesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Porphyria Disorders of Porphyrin Metabolism rs1565750784, rs1592212904 9222176
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Neuroticism Neuroticism GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Inhibit 19477221
Bipolar Disorder Associate 31754094
Carcinoma Non Small Cell Lung Associate 32270771
Colorectal Neoplasms Associate 32270771
Drug Related Side Effects and Adverse Reactions Associate 33656082
Endometrial Neoplasms Associate 37509133
Hypopharyngeal Neoplasms Associate 31173291
Laryngeal Neoplasms Associate 31173291
Neoplasm Metastasis Stimulate 32270771
Neoplasms Associate 32270771