ALAD
entrez
210
canonical
uniprot
P13716
canonical
ensembl
ENSG00000148218
resolver
ensp
ENSP00000386284
resolver
ensp
ENSP00000577421
resolver
ensp
ENSP00000624410
resolver
genesymbol
ALAD
resolver
hgnc
HGNC:395
resolver
uniprot
A0A140VJL9
resolver
uniprot
A8K375
resolver
uniprot
B2R6F2
resolver
uniprot
B7Z3I9
resolver
uniprot
Q16870
resolver
uniprot
Q16871
resolver
uniprot
Q6ZMU0
resolver
uniprot
Q9BVQ9
resolver
uniprot_entry
A0A140VJL9_HUMAN
resolver
uniprot_entry
B7Z3I9_HUMAN
resolver
uniprot_entry
HEM2_HUMAN
resolver
uniprot_entry
Q6ZMU0_HUMAN
resolver
uniprot_sec
A8K375
resolver
uniprot_sec
B2R6F2
resolver
uniprot_sec
Q16870
resolver
uniprot_sec
Q16871
resolver
uniprot_sec
Q9BVQ9
resolver
activity_regulation
ACTIVITY REGULATION: 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. {ECO:0000269|PubMed:11032836, ECO:0000269|PubMed:12897770, ECO:0000269|PubMed:19812033}.
uniprot
proteins
amino_acid_sequence
MQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE
uniprot
proteins
disease_involvement
DISEASE: 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:17236137, ECO:0000269|PubMed:2063868}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.2.1.24
uniprot
proteins
function
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:0000269|PubMed:11032836, ECO:0000269|PubMed:19812033}.
uniprot
proteins
mass_dalton
36295
uniprot
proteins
mutagenesis
MUTAGEN 122; /note="C->A: Reduces enzyme activity about 1000000-fold; when associated with A-124 and A-132."; /evidence="ECO:0000269|PubMed:11032836"; MUTAGEN 124; /note="C->A: Reduces enzyme activity about 1000000-fold; when associated with A-122 and A-132."; /evidence="ECO:0000269|PubMed:11032836"; MUTAGEN 131; /note="H->A: No effect on catalytic activity; when associated with A-223."; /evidence="ECO:0000269|PubMed:11032836"; MUTAGEN 132; /note="C->A: Reduces enzyme activity about 1000000-fold; when associated with A-122 and A-124."; /evidence="ECO:0000269|PubMed:11032836"; MUTAGEN 223; /note="C->A: No effect on catalytic activity; when associated with A-131."; /evidence="ECO:0000269|PubMed:11032836
uniprot
proteins
pathway_participation
PATHWAY: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 1/4. {ECO:0000269|PubMed:11032836, ECO:0000269|PubMed:19812033}.
uniprot
proteins
protein_family
ALAD family
uniprot
proteins
pubmed
10519994
uniprot
proteins
pubmed
10706561
uniprot
proteins
pubmed
11032836
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
12897770
uniprot
proteins
pubmed
1309003
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1569184
uniprot
proteins
pubmed
16398658
uniprot
proteins
pubmed
1678509
uniprot
proteins
pubmed
1716854
uniprot
proteins
pubmed
17236137
uniprot
proteins
pubmed
1769358
uniprot
proteins
pubmed
17966070
uniprot
proteins
pubmed
19812033
uniprot
proteins
pubmed
2063868
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28045381
uniprot
proteins
pubmed
3092810
uniprot
proteins
pubmed
3463993
uniprot
proteins
sequence_length
330
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P10518}.
uniprot
proteins