InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALAD

Summary

InnateDB Protein

IDBP-295310.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ALAD

Protein Name

aminolevulinate dehydratase

Synonyms

ALADH; PBGS;

Species

Homo sapiens

Ensembl Protein

ENSP00000386284

InnateDB Gene

IDBG-81719 (ALAD)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:11032836, ECO:0000269PubMed:19812033}.

Subcellular Localization

Disease Associations

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:0000269PubMed:10706561, ECO:0000269PubMed:1309003, ECO:0000269PubMed:1569184, ECO:0000269PubMed:2063868}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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