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ALAD aminolevulinate dehydratase [ Homo sapiens (human) ]

Gene ID: 210, updated on 21-Mar-2023

Summary

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Official Symbol
ALADprovided by HGNC
Official Full Name
aminolevulinate dehydrataseprovided by HGNC
Primary source
HGNC:HGNC:395
See related
Ensembl:ENSG00000148218 MIM:125270; AllianceGenome:HGNC:395
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PBGS; ALADH
Summary
The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in adrenal (RPKM 60.0), liver (RPKM 56.7) and 25 other tissues See more
Orthologs
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Genomic context

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See ALAD in Genome Data Viewer
Location:
9q32
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (113386312..113401284, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (125585129..125600114, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (116148592..116163564, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene B-box and SPRY domain containing Neighboring gene haloacid dehalogenase like hydrolase domain containing 3 Neighboring gene chromosome 9 open reading frame 43 Neighboring gene DNA polymerase epsilon 3, accessory subunit Neighboring gene regulator of G protein signaling 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116327462-116328182

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genetic Polymorphism of Delta Aminolevulinic Acid Dehydratase (ALAD) Gene and Symptoms of Chronic Mercury Exposure in Munduruku Indigenous Children within the Brazilian Amazon. Perini JA, et al. Int J Environ Res Public Health, 2021 Aug 19. PMID 34444495, Free PMC Article
  2. Genetic susceptibility of δ-ALAD associated with lead (Pb) intoxication: sources of exposure, preventive measures, and treatment interventions. Qader A, et al. Environ Sci Pollut Res Int, 2021 Sep. PMID 34244947
  3. Heme biosynthesis depends on previously unrecognized acquisition of iron-sulfur cofactors in human amino-levulinic acid dehydratase. Liu G, et al. Nat Commun, 2020 Dec 9. PMID 33298951, Free PMC Article
  4. Trace elements and ALAD gene polymorphisms in general population from three uranium legacy sites - A case study in Kyrgyzstan. Stajnko A, et al. Sci Total Environ, 2020 Jun 1. PMID 31859063
  5. Activity of the enzyme delta-aminolevulinate dehydratase and parameters of oxidative stress in different modes of delivery. Vendrame SA, et al. J Matern Fetal Neonatal Med, 2021 Dec. PMID 31851550

See all (147) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ALAD and APOE polymorphisms are associated with lead and mercury levels in Italian pregnant women and their newborns with adequate nutritional status of zinc and selenium.
    Title: ALAD and APOE polymorphisms are associated with lead and mercury levels in Italian pregnant women and their newborns with adequate nutritional status of zinc and selenium.
  2. Genetic Polymorphism of Delta Aminolevulinic Acid Dehydratase (ALAD) Gene and Symptoms of Chronic Mercury Exposure in Munduruku Indigenous Children within the Brazilian Amazon.
    Title: Genetic Polymorphism of Delta Aminolevulinic Acid Dehydratase (ALAD) Gene and Symptoms of Chronic Mercury Exposure in Munduruku Indigenous Children within the Brazilian Amazon.
  3. Activity of the enzyme delta-aminolevulinate dehydratase and parameters of oxidative stress in different modes of delivery.
    Title: Activity of the enzyme delta-aminolevulinate dehydratase and parameters of oxidative stress in different modes of delivery.
  4. Genetic susceptibility of delta-ALAD associated with lead (Pb) intoxication: sources of exposure, preventive measures, and treatment interventions.
    Title: Genetic susceptibility of δ-ALAD associated with lead (Pb) intoxication: sources of exposure, preventive measures, and treatment interventions.
  5. 5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.
    Title: 5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.
  6. Heme biosynthesis depends on previously unrecognized acquisition of iron-sulfur cofactors in human amino-levulinic acid dehydratase.
    Title: Heme biosynthesis depends on previously unrecognized acquisition of iron-sulfur cofactors in human amino-levulinic acid dehydratase.
  7. Pb blood variability was found associated with ALAD polymorphisms (SNPs rs1805313, rs1800435)
    Title: Trace elements and ALAD gene polymorphisms in general population from three uranium legacy sites - A case study in Kyrgyzstan.
  8. aminolevulinate dehydratase genotype may be a susceptibility factor for the effects of lead on child growth
    Title: Effects of ALAD genotype on the relationship between lead exposure and anthropometry in a Cohort of Mexican children.
  9. delta-Aminolevulinic Acid Dehydratase gene polymorphism may be an effect modifier and a marker of genetic susceptibility to lead toxicity.
    Title: Effects of delta-Aminolevulinic Acid Dehydratase Gene Polymorphism on Hematological Parameters and Kidney Function of Lead-exposed Workers.
  10. Automobile paints workers with ALAD 1-2 genotype showed the positive association of blood lead levels with diastolic blood pressure whereas, a genotypic combination of ALAD 1-2/VDR BB showed the negative association of serum uric acid with BLL.
    Title: Role of ALAD and VDR genotypes on the association of low blood lead level with serum uric acid and blood pressure in automobile paint workers of Karachi, Pakistan.
Submit: New GeneRIF Correction See all GeneRIFs (72)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Porphobilinogen synthase deficiency
MedGen: C0268328 OMIM: 612740 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC5057

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables catalytic activity TAS
Traceable Author Statement
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables porphobilinogen synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables porphobilinogen synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables proteasome core complex binding IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to interleukin-4 IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to lead ion IEA
Inferred from Electronic Annotation
more info
  
involved_in heme biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in heme biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of proteasomal protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein homooligomerization IPI
Inferred from Physical Interaction
more info
 PubMed 
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 cadmium ion IEA
Inferred from Electronic Annotation
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 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 methylmercury IEA
Inferred from Electronic Annotation
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 zinc ion IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
  
located_in nucleus HDA PubMed 
located_in secretory granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
delta-aminolevulinic acid dehydratase
Names
aminolevulinate, delta-, dehydratase
porphobilinogen synthase
testicular tissue protein Li 95
NP_000022.3
NP_001003945.1
NP_001304674.1
XP_011516666.1
XP_047278900.1
XP_047278901.1
XP_047278902.1
XP_047278903.1
XP_054218281.1
XP_054218282.1
XP_054218283.1
XP_054218284.1

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.

Genomic

  1. NG_008716.1 RefSeqGene

    Range
    5055..20027
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000031.6 → NP_000022.3  delta-aminolevulinic acid dehydratase isoform b

    See identical proteins and their annotated locations for NP_000022.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment of the coding region and initiates translation from an alternate start codon, compared to variant 1. The resulting isoform (b) has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AK131490, AK290490, BC000977, BU625796, DA805310
    Consensus CDS
    CCDS6794.2
    UniProtKB/Swiss-Prot
    P13716, Q9BVQ9
    UniProtKB/TrEMBL
    A0A140VJL9, Q6ZMU0
    Related
    ENSP00000386284.3, ENST00000409155.8
    Conserved Domains (1) summary
    cd04824
    Location:8 → 327
    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_001003945.3 → NP_001003945.1  delta-aminolevulinic acid dehydratase isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (a).
    Source sequence(s)
    AK131490, AK290490, BU625796
    UniProtKB/Swiss-Prot
    P13716
    UniProtKB/TrEMBL
    Q6ZMU0
    Related
    ENST00000482847.5
    Conserved Domains (1) summary
    cd04824
    Location:68 → 356
    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 ...

  3. NM_001317745.2 → NP_001304674.1  delta-aminolevulinic acid dehydratase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region and initiates translation from an alternate start codon, compared to variant 1. The resulting isoform (c) has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AK131490, AK295945, BU625796
    UniProtKB/TrEMBL
    B7Z3I9, Q6ZMU0
    Conserved Domains (1) summary
    cd04824
    Location:17 → 319
    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_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    113386312..113401284 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422947.1 → XP_047278903.1  delta-aminolevulinic acid dehydratase isoform X4

  2. XM_011518364.3 → XP_011516666.1  delta-aminolevulinic acid dehydratase isoform X3

    See identical proteins and their annotated locations for XP_011516666.1

    UniProtKB/Swiss-Prot
    P13716
    UniProtKB/TrEMBL
    A0A024R877
    Conserved Domains (1) summary
    cd04824
    Location:17 → 336
    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 ...

  3. XM_047422944.1 → XP_047278900.1  delta-aminolevulinic acid dehydratase isoform X1

  4. XM_047422945.1 → XP_047278901.1  delta-aminolevulinic acid dehydratase isoform X1

  5. XM_047422946.1 → XP_047278902.1  delta-aminolevulinic acid dehydratase isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    125585129..125600114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362307.1 → XP_054218282.1  delta-aminolevulinic acid dehydratase isoform X1

  2. XM_054362309.1 → XP_054218284.1  delta-aminolevulinic acid dehydratase isoform X3

  3. XM_054362306.1 → XP_054218281.1  delta-aminolevulinic acid dehydratase isoform X1

  4. XM_054362308.1 → XP_054218283.1  delta-aminolevulinic acid dehydratase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P13716.1 GenPept UniProtKB/Swiss-Prot:P13716

Gene LinkOut

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