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Aliases for ALAD Gene

Aliases for ALAD Gene

  • Aminolevulinate Dehydratase 2 3
  • Porphobilinogen Synthase 2 3 4
  • Aminolevulinate, Delta-, Dehydratase 2 3
  • EC 4.2.1.24 4 63
  • ALADH 3 4
  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for ALAD Gene

ALAD (Aminolevulinate Dehydratase) is a Protein Coding gene. Diseases associated with ALAD include porphyria due to ala dehydratase deficiency and porphyria, acute hepatic. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 8 zinc ions per octamer. Requires four zinc ions per octamer for full catalytic activity. Can bind up to 2 zinc ions per subunit.;
    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

Proteomics data for ALAD Gene at MOPED

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 TAS 2063868
GO:0004655 porphobilinogen synthase activity TAS --
GO:0008270 zinc ion binding IDA 11032836
GO:0032791 lead ion binding IDA 11032836
GO:0042802 identical protein binding IPI 11032836
genes like me logo Genes that share ontologies with ALAD: view
genes like me logo Genes that share phenotypes with ALAD: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay 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 3
chloroplast 2
mitochondrion 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 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006778 porphyrin-containing compound metabolic process TAS --
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process 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

(36) Drugs for ALAD Gene - From: NovoSeek, DrugBank, HMDB, and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aminolevulinic acid Approved Pharma Target, inducer 128
Dimercaprol Approved Pharma 0
Estradiol Approved, Investigational Pharma Sex hormone 1057
Ethanol Approved Pharma 1708
Iron Approved Pharma 957

(26) 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
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
2-MERCAPTOETHANOL
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
cadmium
  • Cadmium atom
  • Cadmium elemental
  • Cadmium metallicum
  • Cd
  • Colloidal cadmium
7440-43-9
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, MOPED, and MaxQB for ALAD Gene



SOURCE GeneReport for Unigene cluster for ALAD Gene Hs.1227

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

Protein tissue co-expression partners for ALAD Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ALAD 35
  • 89.56 (n)
  • 93.01 (a)
ALAD 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALAD 35
  • 89.9 (n)
  • 94.55 (a)
ALAD 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alad 35
  • 87.17 (n)
  • 89.09 (a)
Alad 16
Alad 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALAD 35
  • 99.19 (n)
  • 99.7 (a)
ALAD 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alad 35
  • 86.16 (n)
  • 87.88 (a)
oppossum
(Monodelphis domestica)
Mammalia ALAD 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALAD 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves HDHD3 35
  • 75.25 (n)
  • 78.48 (a)
lizard
(Anolis carolinensis)
Reptilia ALAD 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alad 35
  • 72.95 (n)
  • 78.12 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10336 35
zebrafish
(Danio rerio)
Actinopterygii alad 35
  • 67.99 (n)
  • 75 (a)
Dr.13193 35
alad 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10335 37
  • 61 (a)
Pbgs 35
  • 62.38 (n)
  • 61.76 (a)
Pbgs 36
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010935 35
  • 60.58 (n)
  • 60.68 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR015C 35
  • 56.31 (n)
  • 55.38 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09273g 35
  • 52.31 (n)
  • 52.62 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM2 35
  • 52 (n)
  • 53.85 (a)
HEM2 36
  • 49 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons HEMB1 35
  • 49.39 (n)
  • 42.19 (a)
soybean
(Glycine max)
eudicotyledons Gma.6038 35
rice
(Oryza sativa)
Liliopsida Os06g0704600 35
  • 49.84 (n)
  • 42.39 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7086 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01013 35
  • 56.76 (n)
  • 56.66 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem2 35
  • 53.87 (n)
  • 56.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5256 36
  • 62 (a)
OneToOne
Species with no ortholog for ALAD:
  • 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

P13716-HEM2_HUMAN
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 MAF
rs375221366 -- 113,397,061(+) ACAGC(A/G)AGCAA intron-variant, utr-variant-5-prime
rs375023469 -- 113,389,139(+) CTGAA(A/G)TGGAG intron-variant
rs374269304 -- 113,389,774(+) TCACC(A/G)GAAAG reference, missense
rs374260406 -- 113,390,687(+) GGACA(C/G)ATGAC intron-variant
rs374069780 -- 113,389,459(+) CGCAC(A/G/T)ATGTC synonymous-codon, reference

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

Variant ID Type Subtype PubMed ID
nsv893744 CNV Gain 21882294
nsv825053 CNV Loss 20364138

Variation tolerance for ALAD Gene

Residual Variation Intolerance Score: 43.09% 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

HapMap Linkage Disequilibrium report
ALAD
Human Gene Mutation Database (HGMD)
ALAD

Disorders for ALAD Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
porphyria due to ala dehydratase deficiency
  • porphobilinogen synthase deficiency
porphyria, acute hepatic
  • lead poisoning
porphyria, acute intermittent
  • porphyria, acute intermittent, nonerythroid variant
tyrosinemia, type i
  • tyrosinemia type i
porphyria cutanea tarda
  • porphyria, hepatoerythropoietic
- elite association
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. Biomarkers of lead exposure. (PMID: 10812836) Sakai T. (Ind Health 2000) 23 25 67
  2. A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity. (PMID: 10519994) Akagi R. … Sassa S. (Br. J. Haematol. 1999) 23 25 67
  3. Modification by ALAD of the association between blood lead and blood pressure in the U.S. population: results from the Third National Health and Nutrition Examination Survey. (PMID: 20123609) Scinicariello F. … Fowler B.A. (Environ. Health Perspect. 2010) 23 67
  4. Association between blood lead and the risk of amyotrophic lateral sclerosis. (PMID: 20406759) Fang F. … Kamel F. (Am. J. Epidemiol. 2010) 23 67
  5. delta-Aminolevulinic acid dehydratase activity, urinary delta-aminolevulinic acid concentration and zinc protoporphyrin level among people with low level of lead exposure. (PMID: 19733117) Wang Q. … Ye L.X. (Int J Hyg Environ Health 2010) 23 67

Products for ALAD Gene

Sources for ALAD Gene

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