Alas1 aminolevulinic acid synthase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Alas1provided by MGI
Official Full Name: aminolevulinic acid synthase 1provided by MGI
Primary source: MGI:MGI:87989
See related: Ensembl:ENSMUSG00000032786 AllianceGenome:MGI:87989
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ALAS; ALAS-N; Alas-1; Alas-h
Summary: Enables 5-aminolevulinate synthase activity. Involved in heme A biosynthetic process; heme B biosynthetic process; and heme O biosynthetic process. Located in mitochondrion. Is active in mitochondrial matrix. Is expressed in several structures, including adrenal gland; alimentary system; liver; and male reproductive system. Orthologous to human ALAS1 (5'-aminolevulinate synthase 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in adrenal adult (RPKM 184.1), liver adult (RPKM 95.1) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F1; 9 57.46 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (106110654..106125153, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (106233455..106247954, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heterozygous disruption of ALAS1 in mice causes an accelerated age-dependent reduction in free heme, but not total heme, in skeletal muscle and liver.
Title: Heterozygous disruption of ALAS1 in mice causes an accelerated age-dependent reduction in free heme, but not total heme, in skeletal muscle and liver.
RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice.
Title: RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice.
Both ALAS1 mRNA and protein content were induced in diabetic animals, accompanied by decreased Akt phosphorylation and increased nuclear FOXO1, PGC-1alpha and FOXO1-PGC-1alpha complex levels.
Title: ALAS1 gene expression is down-regulated by Akt-mediated phosphorylation and nuclear exclusion of FOXO1 by vanadate in diabetic mice.
active site functional asymmetry extends to chimeric ALAS/AONS proteins, which while having a different oligomeric state, exhibit different rates of product release from the two ALAS and two AONS active sites due to the created intermolecular strain
Title: Functional asymmetry for the active sites of linked 5-aminolevulinate synthase and 8-amino-7-oxononanoate synthase.
Egr-1 regulates the transcriptional repression of mouse delta-aminolevulinic acid synthase 1 by heme
Title: Egr-1 regulates the transcriptional repression of mouse δ-aminolevulinic acid synthase 1 by heme.
Mice bearing a homozygous knock-in allele were lethal by embryonic day 8.5, demonstrating that ALAS-N is essential for early embryogenesis.
Title: Indispensable function for embryogenesis, expression and regulation of the nonspecific form of the 5-aminolevulinate synthase gene in mouse.
Ser-254 is critical for formation of a competent catalytic complex by coupling succinyl-CoA binding to enzyme conformational equilibria
Title: Serine 254 enhances an induced fit mechanism in murine 5-aminolevulinate synthase.
The findings show that a B2 SINE retrotransposon can contribute to the regulation of ALAS1 and SINEs in 5'-UTR regions contribute to inter-individual differences in gene expression.
Title: B2 SINE retrotransposon causes polymorphic expression of mouse 5-aminolevulinic acid synthase 1 gene.
5-aminolevulinate synthase operates under the stereoelectronic control predicted by Dunathan's hypothesis
Title: Transient kinetic studies support refinements to the chemical and kinetic mechanisms of aminolevulinate synthase.
identified a drug-responsive enhancer in the ALAS1 gene
Title: Nuclear receptors constitutive androstane receptor and pregnane X receptor activate a drug-responsive enhancer of the murine 5-aminolevulinic acid synthase gene.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BE335822 (e-PCR)
- UniSTS:208442

Alas1 (e-PCR), detects polymorphism
- UniSTS:546644

NoName (e-PCR)
- UniSTS:236242

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 5-aminolevulinate synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 5-aminolevulinate synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 5-aminolevulinate synthase activity	ISO Inferred from Sequence Orthology more info
enables 5-aminolevulinate synthase activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in erythrocyte development	IBA Inferred from Biological aspect of Ancestor more info
involved_in heme A biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heme B biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heme O biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heme biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hemoglobin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protoporphyrinogen IX biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in response to bile acid	ISO Inferred from Sequence Orthology more info
involved_in response to bile acid	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial matrix	IMP Inferred from Mutant Phenotype more info	PubMed
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: 5-aminolevulinate synthase, non-specific, mitochondrial

Names: 5-aminolevulinate synthase, nonspecific, mitochondrial; 5-aminolevulinic acid synthase 1; aminolevulinate synthase H; delta-ALA synthase 1; delta-aminolevulinate synthase 1; succinyl-CoA: glycine C-succinyl transferase

NP_001278764.1

EC 2.3.1.37

NP_065584.2

EC 2.3.1.37

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001291835.1 → NP_001278764.1 5-aminolevulinate synthase, non-specific, mitochondrial precursor

See identical proteins and their annotated locations for NP_001278764.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK133283

Consensus CDS

CCDS40756.2

UniProtKB/Swiss-Prot

Q64453, Q8VC19

UniProtKB/TrEMBL

A0A0R4J0X2, Q3V0B2

Related

ENSMUSP00000108143.3, ENSMUST00000112524.9

Conserved Domains (3) summary

COG0156
Location:199 → 600

BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]

pfam09029
Location:2 → 140

Preseq_ALAS; 5-aminolevulinate synthase presequence

cl18945
Location:199 → 604

AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
NM_020559.2 → NP_065584.2 5-aminolevulinate synthase, non-specific, mitochondrial precursor

See identical proteins and their annotated locations for NP_065584.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK133283, BY129328

Consensus CDS

CCDS40756.2

UniProtKB/Swiss-Prot

Q64453, Q8VC19

UniProtKB/TrEMBL

A0A0R4J0X2, Q3V0B2

Related

ENSMUSP00000117014.2, ENSMUST00000141118.9

Conserved Domains (3) summary

COG0156
Location:199 → 600

BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]

pfam09029
Location:2 → 140

Preseq_ALAS; 5-aminolevulinate synthase presequence

cl18945
Location:199 → 604

AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...