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Aliases for ALAD Gene

Aliases for ALAD Gene

  • Aminolevulinate Dehydratase 2 3 5
  • Porphobilinogen Synthase 2 3 4
  • Aminolevulinate, Delta-, Dehydratase 2 3
  • EC 4.2.1.24 4 61
  • ALADH 3 4
  • Delta-Aminolevulinic Acid Dehydratase 3
  • Testicular Tissue Protein Li 95 3
  • PBGS 3

External Ids for ALAD Gene

Previous GeneCards Identifiers for ALAD Gene

  • GC09M106947
  • GC09M107880
  • GC09M109602
  • GC09M111524
  • GC09M113228
  • GC09M115188
  • GC09M116148
  • GC09M085755

Summaries for ALAD Gene

Entrez Gene Summary for ALAD Gene

  • 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]

GeneCards Summary for ALAD Gene

ALAD (Aminolevulinate Dehydratase) is a Protein Coding gene. Diseases associated with ALAD include Porphyria, Acute Hepatic and Porphyria. Among its related pathways are Metabolism and Immune System. GO annotations related to this gene include identical protein binding and lead ion binding.

UniProtKB/Swiss-Prot for ALAD Gene

  • Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen.

Gene Wiki entry for ALAD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALAD Gene

Genomics for ALAD Gene

Regulatory Elements for ALAD Gene

Enhancers for ALAD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F113587 1.1 Ensembl ENCODE 19.5 -187.5 -187532 3.6 HDGF CTCF YBX1 ZIC2 RAD21 ZNF366 POLR2A SMC3 ZNF654 MIER1 C9orf43 RGS3 ALAD POLE3 RNF183 CDC26 PRPF4 LOC105376221 GC09P113739
GH09F113591 0.5 Ensembl ENCODE 16.5 -196.1 -196050 12.8 HDGF ATF1 PKNOX1 ARID4B SIN3A ZNF2 YY1 SLC30A9 GLIS2 GATA2 C9orf43 PRPF4 ALAD RGS3 RNF183 LOC105376221 LOC105376222
GH09F113576 1.1 FANTOM5 Ensembl ENCODE 15.7 -178.6 -178647 6.8 HDGF PKNOX1 WRNIP1 SIN3A YY1 ZNF766 ZNF143 ZNF207 FOS JUNB C9orf43 RGS3 ALAD POLE3 RNF183 LOC105376221 GC09P113739
GH09F113510 0.8 FANTOM5 Ensembl ENCODE 15.4 -111.1 -111081 3.1 HDAC1 PKNOX1 TBL1XR1 BMI1 ZBTB40 RAD21 EGR1 ELK1 FOS CREM C9orf43 PRPF4 RGS3 ALAD ZFP37 RNF183 CDC26 GC09P113741
GH09F113516 1.4 FANTOM5 Ensembl ENCODE 15.4 -120.5 -120543 11.8 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 SIN3A RAD21 ZBTB40 EGR1 ZNF143 C9orf43 RGS3 ALAD RNF183 CDC26 PRPF4 SLC31A2 GC09P113741
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ALAD on UCSC Golden Path with GeneCards custom track

Promoters for ALAD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001312050 238 1401 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for ALAD Gene

Chromosome:
9
Start:
113,386,312 bp from pter
End:
113,401,338 bp from pter
Size:
15,027 bases
Orientation:
Minus strand

Genomic View for ALAD Gene

Genes around ALAD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALAD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALAD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALAD Gene

Proteins for ALAD Gene

  • Protein details for ALAD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13716-HEM2_HUMAN
    Recommended name:
    Delta-aminolevulinic acid dehydratase
    Protein Accession:
    P13716
    Secondary Accessions:
    • A8K375
    • B2R6F2
    • Q16870
    • Q16871
    • Q9BVQ9

    Protein attributes for ALAD Gene

    Size:
    330 amino acids
    Molecular mass:
    36295 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homooctamer; active form. Homohexamer; low activity form.
    SequenceCaution:
    • Sequence=AAH00977.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALAD Gene

    Alternative splice isoforms for ALAD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALAD Gene

Post-translational modifications for ALAD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALAD Gene

Antibody Products

Domains & Families for ALAD Gene

Protein Domains for ALAD Gene

Suggested Antigen Peptide Sequences for ALAD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P13716

UniProtKB/Swiss-Prot:

HEM2_HUMAN :
  • Belongs to the ALAD family.
Family:
  • Belongs to the ALAD family.
genes like me logo Genes that share domains with ALAD: view

No data available for Gene Families for ALAD Gene

Function for ALAD Gene

Molecular function for ALAD Gene

GENATLAS Biochemistry:
delta-aminolevulinate dehydratase,cytosolic enzyme catalyzing porphibilinogen formation,second step of porphyrin biosynthesis
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.09 mM for 5-aminolevulinate at pH 7 {ECO:0000269 PubMed:11032836}; Vmax=43 umol/h/mg enzyme at pH 7 {ECO:0000269 PubMed:11032836}; pH dependence: Optimum pH is 6.8-7.3. {ECO:0000269 PubMed:11032836};
UniProtKB/Swiss-Prot CatalyticActivity:
2 5-aminolevulinate = porphobilinogen + 2 H(2)O.
UniProtKB/Swiss-Prot EnzymeRegulation:
Can alternate between a fully active homooctamer and a low-activity homohexamer. A bound magnesium ion may promote the assembly of the fully active homooctamer. The magnesium-binding site is absent in the low-activity homohexamer. Inhibited by compounds that favor the hexameric state. Inhibited by divalent lead ions. The lead ions partially displace the zinc cofactor.
UniProtKB/Swiss-Prot Function:
Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen.

Enzyme Numbers (IUBMB) for ALAD Gene

Gene Ontology (GO) - Molecular Function for ALAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA,TAS 2063868
GO:0004655 porphobilinogen synthase activity IEA,TAS --
GO:0008270 zinc ion binding IDA 11032836
GO:0016829 lyase activity IEA --
GO:0032791 lead ion binding IDA 11032836
genes like me logo Genes that share ontologies with ALAD: view
genes like me logo Genes that share phenotypes with ALAD: view

Human Phenotype Ontology for ALAD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ALAD Gene

Localization for ALAD Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALAD Gene COMPARTMENTS Subcellular localization image for ALAD gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
chloroplast 2
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ALAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005634 nucleus IDA 21630459
GO:0005829 cytosol IEA,TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ALAD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ALAD Gene

Pathways & Interactions for ALAD Gene

genes like me logo Genes that share pathways with ALAD: view

Pathways by source for ALAD Gene

UniProtKB/Swiss-Prot P13716-HEM2_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 1/4.

Gene Ontology (GO) - Biological Process for ALAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process IEA,TAS --
GO:0006979 response to oxidative stress IEA --
genes like me logo Genes that share ontologies with ALAD: view

No data available for SIGNOR curated interactions for ALAD Gene

Drugs & Compounds for ALAD Gene

(37) Drugs for ALAD Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aminolevulinic acid Approved Pharma Target, inducer 157
Water Approved Pharma 0
Porphobilinogen Experimental Pharma Target 0
3-(2-Aminoethyl)-4-(Aminomethyl)Heptanedioic Acid Experimental Pharma Target 0
4,7-Dioxosebacic Acid Experimental Pharma Target 0

(25) Additional Compounds for ALAD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Formyl-CoA
  • Formyl coenzyme A
13131-49-2
genes like me logo Genes that share compounds with ALAD: view

Transcripts for ALAD Gene

Unigene Clusters for ALAD Gene

Aminolevulinate dehydratase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALAD Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - -
SP10:
SP11: - - - - - - - - - - - - - -
SP12: - - - - - -
SP13:
SP14: - - - - - -
SP15: -

ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for ALAD Gene

GeneLoc Exon Structure for
ALAD
ECgene alternative splicing isoforms for
ALAD

Expression for ALAD Gene

mRNA expression in normal human tissues for ALAD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALAD Gene

This gene is overexpressed in Adrenal Gland (x4.5).

Protein differential expression in normal tissues from HIPED for ALAD Gene

This gene is overexpressed in Liver, secretome (18.0) and Salivary gland (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALAD Gene



Protein tissue co-expression partners for ALAD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALAD Gene:

ALAD

SOURCE GeneReport for Unigene cluster for ALAD Gene:

Hs.1227
genes like me logo Genes that share expression patterns with ALAD: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ALAD Gene

Orthologs for ALAD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALAD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALAD 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia ALAD 34 35
  • 89.9 (n)
cow
(Bos Taurus)
Mammalia ALAD 34 35
  • 89.56 (n)
mouse
(Mus musculus)
Mammalia Alad 34 16 35
  • 87.17 (n)
rat
(Rattus norvegicus)
Mammalia Alad 34
  • 86.16 (n)
oppossum
(Monodelphis domestica)
Mammalia ALAD 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALAD 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves HDHD3 34
  • 75.25 (n)
lizard
(Anolis carolinensis)
Reptilia ALAD 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alad 34
  • 72.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10336 34
zebrafish
(Danio rerio)
Actinopterygii alad 34 35
  • 67.99 (n)
Dr.13193 34
fruit fly
(Drosophila melanogaster)
Insecta Pbgs 34 35
  • 62.38 (n)
CG10335 36
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010935 34
  • 60.58 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR015C 34
  • 56.31 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09273g 34
  • 52.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM2 34 35
  • 52 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons HEMB1 34
  • 49.39 (n)
soybean
(Glycine max)
eudicotyledons Gma.6038 34
rice
(Oryza sativa)
Liliopsida Os06g0704600 34
  • 49.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5256 35
  • 62 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01013 34
  • 56.76 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem2 34
  • 53.87 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7086 34
Species where no ortholog for ALAD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALAD Gene

ENSEMBL:
Gene Tree for ALAD (if available)
TreeFam:
Gene Tree for ALAD (if available)

Paralogs for ALAD Gene

No data available for Paralogs for ALAD Gene

Variants for ALAD Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ALAD Gene

HEM2_HUMAN-P13716
There are two common alleles of ALAD. Individuals heterozygous or homozygous for ALAD*2 Asn-59 have significantly higher blood lead levels than do ALAD*1 Lys-59 homozygotes when exposed to environmental lead.

Sequence variations from dbSNP and Humsavar for ALAD Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs121912980 Acute hepatic porphyria (AHEPP) [MIM:612740], Pathogenic 113,390,798(-) ACTGC(A/G)GTGAG reference, missense
rs121912981 Acute hepatic porphyria (AHEPP) [MIM:612740], Pathogenic 113,389,085(-) TCGCC(A/G)TGTAC reference, missense
rs121912982 Acute hepatic porphyria (AHEPP) [MIM:612740], Pathogenic 113,389,521(-) AGGAC(C/T)GGGAT reference, missense
rs121912983 Acute hepatic porphyria (AHEPP) [MIM:612740], Pathogenic 113,389,088(-) CTCTC(A/G)CCGTG reference, missense
VAR_020974 Acute hepatic porphyria (AHEPP) [MIM:612740]

Structural Variations from Database of Genomic Variants (DGV) for ALAD Gene

Variant ID Type Subtype PubMed ID
esv3621540 CNV gain 21293372
nsv615214 CNV gain 21841781
nsv825053 CNV loss 20364138

Variation tolerance for ALAD Gene

Residual Variation Intolerance Score: 43.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.49; 64.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALAD Gene

Human Gene Mutation Database (HGMD)
ALAD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALAD

Disorders for ALAD Gene

MalaCards: The human disease database

(16) MalaCards diseases for ALAD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
porphyria, acute hepatic
  • lead poisoning
porphyria
  • disorder of porphyrin and hem metabolism
porphyria cutanea tarda
  • porphyria, hepatoerythropoietic
tyrosinemia, type i
  • tyrosinemia type i
porphyria, acute intermittent
  • porphyria, acute intermittent, nonerythroid variant
- elite association - COSMIC cancer census association via MalaCards
Search ALAD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HEM2_HUMAN
  • Acute hepatic porphyria (AHEPP) [MIM:612740]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. {ECO:0000269 PubMed:10706561, ECO:0000269 PubMed:1309003, ECO:0000269 PubMed:1569184, ECO:0000269 PubMed:2063868}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ALAD Gene

porphyria,acute,hepatic

Relevant External Links for ALAD

Genetic Association Database (GAD)
ALAD
Human Genome Epidemiology (HuGE) Navigator
ALAD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALAD
genes like me logo Genes that share disorders with ALAD: view

Publications for ALAD Gene

  1. Association between blood lead and the risk of amyotrophic lateral sclerosis. (PMID: 20406759) Fang F. … Kamel F. (Am. J. Epidemiol. 2010) 3 22 46 64
  2. Association between a polymorphism of aminolevulinate dehydrogenase (ALAD) gene and blood lead levels in Japanese subjects. (PMID: 19440429) Miyaki K. … Nakayama T. (Int J Environ Res Public Health 2009) 3 22 46 64
  3. Polymorphisms of delta-aminolevulinic acid dehydratase (ALAD) and peptide transporter 2 (PEPT2) genes in children with low-level lead exposure. (PMID: 19723536) Sobin C. … Alterio H. (Neurotoxicology 2009) 3 22 46 64
  4. Allosteric inhibition of human porphobilinogen synthase. (PMID: 19812033) Lawrence S.H. … Jaffe E.K. (J. Biol. Chem. 2009) 3 4 22 64
  5. [Study of ALAD and VDR gene polymorphisms associated with lead nephrotoxicity susceptibility]. (PMID: 19548578) Wang A. … Xu J. (Wei Sheng Yan Jiu 2009) 3 22 46 64

Products for ALAD Gene

Sources for ALAD Gene

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