Protein: P13716

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

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
GO:0010269 response to selenium ion IEA
GO:0014823 response to activity IEA
GO:0032025 response to cobalt ion IEA
GO:0032496 response to lipopolysaccharide IEA
GO:0033197 response to vitamin E IEA
GO:0042493 response to drug IEA
GO:0043200 response to amino acid IEA
GO:0043312 neutrophil degranulation TAS
GO:0045471 response to ethanol IEA
GO:0046685 response to arsenic-containing substance IEA
GO:0046686 response to cadmium ion IEA
GO:0046689 response to mercury ion IEA
GO:0051260 protein homooligomerization IPI
GO:0051384 response to glucocorticoid IEA
GO:0051597 response to methylmercury IEA
GO:0070541 response to platinum ion IEA
GO:0070542 response to fatty acid IEA
GO:0071284 cellular response to lead ion IEA
GO:0071353 cellular response to interleukin-4 IEA
GO:1901799 negative regulation of proteasomal protein catabolic process IDA
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
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
No results found.
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.
11032836 The molecular mechanism of lead inhibition of human porphobilinogen synthase.
12665801 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12897770 Control of tetrapyrrole biosynthesis by alternate quaternary forms of porphobilinogen synthase.
14702039 Complete sequencing and characterization of 21,243 full-length human cDNAs.
15164053 DNA sequence and analysis of human chromosome 9.
15489334 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
16398658 Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.
17236137 ALAD porphyria is a conformational disease.
17966070 Association between delta-aminolevulinic acid dehydratase (ALAD) polymorphism and blood lead levels: a meta-regression analysis.
19812033 Allosteric inhibition of human porphobilinogen synthase.
21269460 Initial characterization of the human central proteome.
24275569 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
OMIM ID Disease Name
612740 Acute hepatic porphyria
Domain Name Domain ID Source
A26478 A26478 PIR
ALAD IPR001731 InterPro
Aldolase_TIM IPR013785 InterPro
ALAD_AS IPR030656 InterPro
ALAD PF00490 Pfam
Porphbilin_synth PIRSF001415 PIRSF
DALDHYDRTASE PR00144 PRINTS
D_ALA_DEHYDRATASE PS00169 PROSITE
PTHR11458 PTHR11458 PANTHER
ALAD SM01004 SMART