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

    Gene ID: 11655, updated on 5-Jan-2022

    Summary

    Official Symbol
    Alas1provided by MGI
    Official Full Name
    aminolevulinic acid synthase 1provided by MGI
    Primary source
    MGI:MGI:87989
    See related
    Ensembl:ENSMUSG00000032786
    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
    Predicted to enable 5-aminolevulinate synthase activity and identical protein binding activity. Predicted to be involved in erythrocyte development; heme biosynthetic process; and hemoglobin biosynthetic process. Located in mitochondrion. 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, Nov 2021]
    Expression
    Broad expression in adrenal adult (RPKM 184.1), liver adult (RPKM 95.1) and 22 other tissues See more
    Orthologs
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    Genomic context

    See Alas1 in Genome Data Viewer
    Location:
    9; 9 F1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (106135786..106150285, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene twinfilin actin binding protein 2 Neighboring gene toll-like receptor 9 Neighboring gene RIKEN cDNA 4930500F10 gene Neighboring gene predicted gene, 33564 Neighboring gene POC1 centriolar protein A

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (1)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 5-aminolevulinate synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables 5-aminolevulinate synthase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables acyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables catalytic activity 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
     
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythrocyte development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in heme biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in hemoglobin biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in porphyrin-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tetrapyrrole biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    5-aminolevulinate synthase, nonspecific, mitochondrial
    Names
    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
    NP_065584.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001291835.1NP_001278764.1  5-aminolevulinate synthase, nonspecific, 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
      Q8VC19
      UniProtKB/TrEMBL
      Q3V0B2
      Related
      ENSMUSP00000108143.3, ENSMUST00000112524.9
      Conserved Domains (3) summary
      COG0156
      Location:199600
      BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
      pfam09029
      Location:2140
      Preseq_ALAS; 5-aminolevulinate synthase presequence
      cl18945
      Location:199604
      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 ...
    2. NM_020559.2NP_065584.2  5-aminolevulinate synthase, nonspecific, 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
      Q8VC19
      UniProtKB/TrEMBL
      Q3V0B2
      Related
      ENSMUSP00000117014.2, ENSMUST00000141118.9
      Conserved Domains (3) summary
      COG0156
      Location:199600
      BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
      pfam09029
      Location:2140
      Preseq_ALAS; 5-aminolevulinate synthase presequence
      cl18945
      Location:199604
      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 ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      106110654..106125153 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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