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

Gene ID: 17025, updated on 1-Mar-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 identical protein binding activity and porphobilinogen synthase activity. Acts upstream of or within cellular response to interleukin-4 and heme biosynthetic process. Predicted to be located in extracellular space. Predicted to be 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, Apr 2022]
Expression
Ubiquitous expression in liver E14.5 (RPKM 66.3), liver E14 (RPKM 56.6) and 27 other tissues See more
Orthologs
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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)
  • Gene trapped (2) 
  • Endonuclease-mediated (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 catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables lyase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
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 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
 
Process Evidence Code Pubs
acts_upstream_of_or_within cellular response to interleukin-4 IDA
Inferred from Direct Assay
more info
PubMed 
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
 
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of proteasomal protein catabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within porphyrin-containing compound biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in protein homooligomerization ISO
Inferred from Sequence Orthology
more info
 
involved_in response to arsenic-containing substance ISO
Inferred from Sequence Orthology
more info
 
involved_in response to cadmium ion ISO
Inferred from Sequence Orthology
more info
 
involved_in response to ethanol ISO
Inferred from Sequence Orthology
more info
 
involved_in response to metal ion ISO
Inferred from Sequence Orthology
more info
 
involved_in response to nutrient ISO
Inferred from Sequence Orthology
more info
 
involved_in response to organic substance ISO
Inferred from Sequence Orthology
more info
 
involved_in response to xenobiotic stimulus ISO
Inferred from Sequence Orthology
more info
 
involved_in response to zinc ion ISO
Inferred from Sequence Orthology
more info
 
involved_in tetrapyrrole biosynthetic process IEA
Inferred from Electronic Annotation
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 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)

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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)

  1. NM_001276446.2NP_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_008525.5NP_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)