Homo sapiens Gene: ALAD
Summary
InnateDB Gene IDBG-81719.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALAD
Gene Name aminolevulinate dehydratase
Synonyms ALADH; PBGS
Species Homo sapiens
Ensembl Gene ENSG00000148218
Encoded Proteins
aminolevulinate dehydratase
aminolevulinate dehydratase
aminolevulinate dehydratase
aminolevulinate dehydratase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:113386317-113401333
Strand Reverse strand
Band q32
Transcripts
ENST00000409155 ENSP00000386284
ENST00000448137 ENSP00000392748
ENST00000452726 ENSP00000415737
ENST00000445750 ENSP00000398438
ENST00000482847
ENST00000468504
ENST00000464749
ENST00000482001
ENST00000494848
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
Experimentally validated
Total 19 [view]
Protein-Protein 19 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004655 porphobilinogen synthase activity
GO:0008270 zinc ion binding
GO:0032791 lead ion binding
GO:0042802 identical protein binding
GO:0046872 metal ion binding
Biological Process
GO:0006778 porphyrin-containing compound metabolic process
GO:0006779 porphyrin-containing compound biosynthetic process
GO:0006782 protoporphyrinogen IX biosynthetic process
GO:0006783 heme biosynthetic process
GO:0033014 tetrapyrrole biosynthetic process
GO:0044281 small molecule metabolic process
GO:0051260 protein homooligomerization
GO:0071353 cellular response to interleukin-4
Cellular Component
GO:0005634 nucleus
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Heme biosynthesis pathway
Metabolism of porphyrins pathway
Metabolism pathway
KEGG
Porphyrin and chlorophyll metabolism pathway
INOH
Porphyrin metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.1227
RefSeq NM_000031 XM_005251799
HUGO
OMIM
CCDS CCDS6794
HPRD 00504
IMGT
EMBL
GenPept
RNA Seq Atlas