Protein: P13716 | MoonDB v2.0

UniprotKB AC	UniprotKB ID	Gene name	Full name	Species	Curated set
P13716 (Uniprot)	HEM2_HUMAN	ALAD	Delta-aminolevulinic acid dehydratase	human	Yes

Protein Function

Uniprot: 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.

Dissimilar Functions Manual Curation

Function 1: Delta-aminolevulinic acid dehydratase.

Function 2: Proteasome inhibitory subunit.

Publications (PMID): 8175643, 20238402, 17236137

MoonDB Network Modules

Biological Processes

No results found.

Cellular Components

No results found.

Protein GO Annotations

Biological Processes

Showing 1 to 10 of 30 entries

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GO ID (BP)	GO Name	Evidence Code (GO EC)
GO:0001666	response to hypoxia	IEA
GO:0006782	protoporphyrinogen IX biosynthetic process	IEA
GO:0006783	heme biosynthetic process	TAS
GO:0006979	response to oxidative stress	IEA
GO:0009635	response to herbicide	IEA
GO:0010039	response to iron ion	IEA
GO:0010043	response to zinc ion	IEA
GO:0010044	response to aluminum ion	IEA
GO:0010212	response to ionizing radiation	IEA
GO:0010266	response to vitamin B1	IEA

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Cellular Components

Showing 1 to 7 of 7 entries

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GO ID (CC)	GO Name	Evidence Code (GO EC)
GO:0005576	extracellular region	TAS
GO:0005634	nucleus	IDA
GO:0005829	cytosol	TAS
GO:0005839	proteasome core complex	IEA
GO:0034774	secretory granule lumen	TAS
GO:0070062	extracellular exosome	IDA
GO:1904813	ficolin-1-rich granule lumen	TAS

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Dissimilar Cellular Components (PrOnto)

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GO ID 1	Component 1	GO ID 2	Component 2	Association Probability (PrOnto)	Interaction Probability (PrOnto)
GO:0005576	extracellular region	GO:0005634	nucleus	4.48e-91	1.28e-107
GO:0005634	nucleus	GO:0070062	extracellular exosome	6.30e-13	4.54e-26

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All Protein Interactions

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Publications Associated

Showing 1 to 10 of 22 entries

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PMID	Article Title
1309003	Cloning and expression of the defective genes in delta-aminolevulinate dehydratase porphyria: compound heterozygosity in this hereditary liver disease.
1569184	Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria.
1678509	RsaI polymorphism in the human delta-aminolevulinate dehydratase gene at 9q34.
1716854	Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning.
1769358	The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes.
2063868	Delta-aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
3092810	Identification of lysine at the active site of human 5-aminolevulinate dehydratase.
3463993	Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone.
10519994	A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity.
10706561	Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.

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OMIM Diseases Associated

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OMIM ID	Disease Name
612740	Acute hepatic porphyria

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Protein Domains Associated

Showing 1 to 10 of 10 entries

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Domain Name	Domain ID	Source
A26478	A26478	PIR
ALAD	IPR001731	InterPro
ALAD	PF00490	Pfam
ALAD	SM01004	SMART
ALAD_AS	IPR030656	InterPro
Aldolase_TIM	IPR013785	InterPro
D_ALA_DEHYDRATASE	PS00169	PROSITE
DALDHYDRTASE	PR00144	PRINTS
Porphbilin_synth	PIRSF001415	PIRSF
PTHR11458	PTHR11458	PANTHER

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