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    Alad aminolevulinate, delta-, dehydratase [ Mus musculus (house mouse) ]

    Gene ID: 17025, updated on 3-Dec-2024

    Summary

    Official Symbol
    Aladprovided by MGI
    Official Full Name
    aminolevulinate, delta-, dehydrataseprovided by MGI
    Primary source
    MGI:MGI:96853
    See related
    Ensembl:ENSMUSG00000028393 AllianceGenome:MGI:96853
    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
    Lv; ALADH
    Summary
    Enables porphobilinogen synthase activity. Involved in heme A biosynthetic process; heme B biosynthetic process; and heme O biosynthetic process. Acts upstream of or within cellular response to interleukin-4 and heme biosynthetic process. Is active in cytosol. Is expressed in several structures, including liver; lung; metanephros; spleen; and yolk sac. Human ortholog(s) of this gene implicated in porphyria cutanea tarda and sickle cell anemia. Orthologous to human ALAD (aminolevulinate dehydratase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver E14.5 (RPKM 66.3), liver E14 (RPKM 56.6) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Alad in Genome Data Viewer
    Location:
    4 B3; 4 33.17 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (62422762..62438300, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (62505984..62520063, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene B-box and SPRY domain containing Neighboring gene haloacid dehalogenase-like hydrolase domain containing 3 Neighboring gene RIKEN cDNA 4933430I17 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:62186055-62186242 Neighboring gene polymerase (DNA directed), epsilon 3 (p17 subunit) Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:62213110-62213293

    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)
    • Endonuclease-mediated (2) 
    • Gene trapped (2) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables porphobilinogen synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables porphobilinogen synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables porphobilinogen synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables porphobilinogen synthase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables porphobilinogen synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables proteasome core complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables proteasome core complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within cellular response to interleukin-4 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to lead ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme A biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in heme A biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heme B biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in heme B biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heme O biosynthetic process IDA
    Inferred from Direct Assay
    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
     
    acts_upstream_of_or_within heme biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in heme biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in heme biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of proteasomal protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of proteasomal protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protoporphyrinogen IX biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to aluminum ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to amino acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to arsenic-containing substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to arsenic-containing substance ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cadmium ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to cobalt ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ethanol ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to fatty acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to herbicide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to iron ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mercury ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to metal ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to methylmercury IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to platinum ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to selenium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to vitamin B1 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to vitamin E IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to zinc ion ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    delta-aminolevulinic acid dehydratase
    Names
    porphobilinogen synthase
    NP_001263375.1
    NP_001408060.1
    NP_032551.3

    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_001276446.3NP_001263375.1  delta-aminolevulinic acid dehydratase

      See identical proteins and their annotated locations for NP_001263375.1

      Status: VALIDATED

      Source sequence(s)
      AL732594
      Consensus CDS
      CCDS18243.1
      UniProtKB/Swiss-Prot
      P10518, Q3THV6
      UniProtKB/TrEMBL
      Q9DD05
      Related
      ENSMUSP00000103068.2, ENSMUST00000107444.8
      Conserved Domains (1) summary
      cd04824
      Location:8327
      eu_ALAD_PBGS_cysteine_rich; Porphobilinogen synthase (PBGS), which is also called delta-aminolevulinic acid dehydratase (ALAD), catalyzes the condensation of two 5-aminolevulinic acid (ALA) molecules to form the pyrrole porphobilinogen (PBG), which is the second step in the ...
    2. NM_001421131.1NP_001408060.1  delta-aminolevulinic acid dehydratase

      Status: VALIDATED

      Source sequence(s)
      AL732594
      UniProtKB/Swiss-Prot
      P10518, Q3THV6
      UniProtKB/TrEMBL
      Q9DD05
    3. NM_008525.6NP_032551.3  delta-aminolevulinic acid dehydratase

      See identical proteins and their annotated locations for NP_032551.3

      Status: VALIDATED

      Source sequence(s)
      AL732594
      Consensus CDS
      CCDS18243.1
      UniProtKB/Swiss-Prot
      P10518, Q3THV6
      UniProtKB/TrEMBL
      Q9DD05
      Related
      ENSMUSP00000030090.4, ENSMUST00000030090.4
      Conserved Domains (1) summary
      cd04824
      Location:8327
      eu_ALAD_PBGS_cysteine_rich; Porphobilinogen synthase (PBGS), which is also called delta-aminolevulinic acid dehydratase (ALAD), catalyzes the condensation of two 5-aminolevulinic acid (ALA) molecules to form the pyrrole porphobilinogen (PBG), which is the second step in the ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      62422762..62438300 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)