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    ALAD aminolevulinate dehydratase [ Homo sapiens (human) ]

    Gene ID: 210, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALAD in Genome Data Viewer
    Location:
    9q32
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (113386312..113401284, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (125585129..125600114, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 20199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116131698-116132198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116132199-116132699 Neighboring gene B-box and SPRY domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28837 Neighboring gene haloacid dehalogenase like hydrolase domain containing 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116162720-116163300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20204 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:116171753-116172952 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116173655-116174554 Neighboring gene chromosome 9 open reading frame 43 Neighboring gene DNA polymerase epsilon 3, accessory subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116224910-116225864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116225865-116226819 Neighboring gene regulator of G protein signaling 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116265604-116266246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116266247-116266887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116286687-116287497 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116298300-116299051 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:116303397-116303896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116304621-116305136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116305137-116305652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116326740-116327461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116327462-116328182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116344249-116344757 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116349073-116349850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116351247-116351748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116351749-116352248

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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
     
    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 A biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme B biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme O biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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

    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)

    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.

    Genomic

    1. NG_008716.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000031.6NP_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
      A8K375, B2R6F2, P13716, Q16870, Q16871, Q9BVQ9
      UniProtKB/TrEMBL
      A0A140VJL9, B7Z3I9
      Related
      ENSP00000386284.3, ENST00000409155.8
      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_001003945.3NP_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/TrEMBL
      Q6ZMU0
      Related
      ENST00000482847.5
      Conserved Domains (1) summary
      cd04824
      Location:68356
      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_001317745.2NP_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
      Conserved Domains (1) summary
      cd04824
      Location:17319
      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_2024_08

    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_047422947.1XP_047278903.1  delta-aminolevulinic acid dehydratase isoform X4

      UniProtKB/TrEMBL
      B7Z3I9
    2. XM_011518364.3XP_011516666.1  delta-aminolevulinic acid dehydratase isoform X3

      See identical proteins and their annotated locations for XP_011516666.1

      UniProtKB/TrEMBL
      B7Z3I9
      Conserved Domains (1) summary
      cd04824
      Location:17336
      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_047422944.1XP_047278900.1  delta-aminolevulinic acid dehydratase isoform X1

      UniProtKB/TrEMBL
      B7Z3I9
    4. XM_047422945.1XP_047278901.1  delta-aminolevulinic acid dehydratase isoform X1

      UniProtKB/TrEMBL
      B7Z3I9
    5. XM_047422946.1XP_047278902.1  delta-aminolevulinic acid dehydratase isoform X2

      UniProtKB/TrEMBL
      Q6ZMU0

    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_054362307.1XP_054218282.1  delta-aminolevulinic acid dehydratase isoform X1

      UniProtKB/TrEMBL
      B7Z3I9
    2. XM_054362309.1XP_054218284.1  delta-aminolevulinic acid dehydratase isoform X3

      UniProtKB/TrEMBL
      B7Z3I9
    3. XM_054362306.1XP_054218281.1  delta-aminolevulinic acid dehydratase isoform X1

      UniProtKB/TrEMBL
      B7Z3I9
    4. XM_054362308.1XP_054218283.1  delta-aminolevulinic acid dehydratase isoform X2

      UniProtKB/TrEMBL
      Q6ZMU0