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ALAD aminolevulinate dehydratase [ Homo sapiens (human) ]

Gene ID: 210, updated on 24-Nov-2020

Summary

Official Symbol
ALADprovided by HGNC
Official Full Name
aminolevulinate dehydrataseprovided by HGNC
Primary source
HGNC:HGNC:395
See related
Ensembl:ENSG00000148218 MIM:125270
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

Genomic context

See ALAD in Genome Data Viewer
Location:
9q32
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (113386312..113401301, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (116148592..116163618, 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 Sharpr-MPRA regulatory region 4137

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

Homology

Clone Names

  • MGC5057

Gene Ontology Provided by GOA

Function Evidence Code Pubs
catalytic activity TAS
Traceable Author Statement
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
porphobilinogen synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
porphobilinogen synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
proteasome core complex binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular response to interleukin-4 IEA
Inferred from Electronic Annotation
more info
 
cellular response to lead ion IEA
Inferred from Electronic Annotation
more info
 
heme biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
heme biosynthetic process TAS
Traceable Author Statement
more info
 
negative regulation of proteasomal protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
protein homooligomerization IPI
Inferred from Physical Interaction
more info
PubMed 
protoporphyrinogen IX biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to aluminum ion IEA
Inferred from Electronic Annotation
more info
 
response to amino acid IEA
Inferred from Electronic Annotation
more info
 
response to arsenic-containing substance IEA
Inferred from Electronic Annotation
more info
 
response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
response to cobalt ion IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to herbicide IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to ionizing radiation IEA
Inferred from Electronic Annotation
more info
 
response to iron ion IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to mercury ion IEA
Inferred from Electronic Annotation
more info
 
response to methylmercury IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
response to platinum ion IEA
Inferred from Electronic Annotation
more info
 
response to selenium ion IEA
Inferred from Electronic Annotation
more info
 
response to vitamin B1 IEA
Inferred from Electronic Annotation
more info
 
response to vitamin E IEA
Inferred from Electronic Annotation
more info
 
response to zinc ion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 
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_024303217.1

NCBI Reference Sequences (RefSeq)

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
    P13716
    UniProtKB/TrEMBL
    A0A140VJL9, Q6ZMU0
    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/Swiss-Prot
    P13716
    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, Q6ZMU0
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    113386312..113401301 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518364.2XP_011516666.1  delta-aminolevulinic acid dehydratase isoform X2

    See identical proteins and their annotated locations for XP_011516666.1

    UniProtKB/Swiss-Prot
    P13716
    UniProtKB/TrEMBL
    A0A024R877
    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 ...
  2. XM_024447449.1XP_024303217.1  delta-aminolevulinic acid dehydratase isoform X1

    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 ...

RNA

  1. XR_002956764.1 RNA Sequence

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