HMBS
entrez
3145
canonical
uniprot
P08397
canonical
ensembl
ENSG00000256269
resolver
ensp
ENSP00000376584
resolver
ensp
ENSP00000392041
resolver
ensp
ENSP00000438424
resolver
ensp
ENSP00000443058
resolver
ensp
ENSP00000444730
resolver
ensp
ENSP00000496970
resolver
ensp
ENSP00000497255
resolver
ensp
ENSP00000498786
resolver
ensp
ENSP00000509288
resolver
ensp
ENSP00000603466
resolver
ensp
ENSP00000603468
resolver
ensp
ENSP00000629986
resolver
ensp
ENSP00000672222
resolver
enst
ENST00000442944
resolver
enst
ENST00000686218
resolver
genesymbol
HMBS
resolver
genesymbol_syn
PBGD
resolver
genesymbol_syn
UPS
resolver
hgnc
HGNC:4982
resolver
uniprot
A0A3F2YNY7
resolver
uniprot
A0A8I5KXV4
resolver
uniprot
A8K2L0
resolver
uniprot
G3V1P4
resolver
uniprot
G5EA58
resolver
uniprot
P08396
resolver
uniprot
Q16012
resolver
uniprot_entry
A0A3F2YNY7_HUMAN
resolver
uniprot_entry
A0A8I5KXV4_HUMAN
resolver
uniprot_entry
HEM3_HUMAN
resolver
uniprot_sec
A8K2L0
resolver
uniprot_sec
G3V1P4
resolver
uniprot_sec
G5EA58
resolver
uniprot_sec
P08396
resolver
uniprot_sec
Q16012
resolver
amino_acid_sequence
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH
uniprot
proteins
disease_involvement
DISEASE: Acute intermittent porphyria (AIP) [MIM:176000]: 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. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. {ECO:0000269|PubMed:10453740, ECO:0000269|PubMed:10494093, ECO:0000269|PubMed:10502788, ECO:0000269|PubMed:10602775, ECO:0000269|PubMed:10657149, ECO:0000269|PubMed:10782018, ECO:0000269|PubMed:11013452, ECO:0000269|PubMed:11030413, ECO:0000269|PubMed:11399210, ECO:0000269|PubMed:11857754, ECO:0000269|PubMed:12372055, ECO:0000269|PubMed:12406973, ECO:0000269|PubMed:12773194, ECO:0000269|PubMed:1301948, ECO:0000269|PubMed:1427766, ECO:0000269|PubMed:14669009, ECO:0000269|PubMed:14757946, ECO:0000269|PubMed:1496994, ECO:0000269|PubMed:14970743, ECO:0000269|PubMed:15669678, ECO:0000269|PubMed:16211556, ECO:0000269|PubMed:1714233, ECO:0000269|PubMed:18406650, ECO:0000269|PubMed:19138865, ECO:0000269|PubMed:19292878, ECO:0000269|PubMed:2243128, ECO:0000269|PubMed:23815679, ECO:0000269|PubMed:25703257, ECO:0000269|PubMed:25870942, ECO:0000269|PubMed:29360981, ECO:0000269|PubMed:7757070, ECO:0000269|PubMed:7962538, ECO:0000269|PubMed:8081367, ECO:0000269|PubMed:8262523, ECO:0000269|PubMed:8268934, ECO:0000269|PubMed:8270254, ECO:0000269|PubMed:8270256, ECO:0000269|PubMed:8401516, ECO:0000269|PubMed:8825929, ECO:0000269|PubMed:9199558, ECO:0000269|PubMed:9225970, ECO:0000269|PubMed:9463797, ECO:0000269|PubMed:9654202, ECO:0000269|Ref.48}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Encephalopathy, porphyria-related (ENCEP) [MIM:620704]: An autosomal recessive disorder characterized by rapidly progressive neurologic abnormalities apparent in early infancy. Clinical features include global developmental delay, impaired intellectual development, hypotonia, ataxia, dysarthria, spasticity, ocular abnormalities, and peripheral neuropathy. Laboratory studies show increased plasma and urinary levels of porphyrin precursors. Death in childhood may occur. {ECO:0000269|PubMed:14970743, ECO:0000269|PubMed:1577472}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leukoencephalopathy, porphyria-related (LENCEP) [MIM:620711]: An autosomal recessive disorder characterized by slowly progressive spasticity, ataxia, peripheral neuropathy, with or without mild cognitive impairment, and/or ocular disease with onset in childhood or adolescence. {ECO:0000269|PubMed:27558376, ECO:0000269|PubMed:34089223}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.61
uniprot
proteins
function
FUNCTION: As part of the heme biosynthetic pathway, catalyzes the sequential polymerization of four molecules of porphobilinogen to form hydroxymethylbilane, also known as preuroporphyrinogen (PubMed:18004775, PubMed:18936296, PubMed:19138865, PubMed:23815679). Catalysis begins with the assembly of the dipyrromethane cofactor by the apoenzyme from two molecules of porphobilinogen or from preuroporphyrinogen. The covalently linked cofactor acts as a primer, around which the tetrapyrrole product is assembled (PubMed:18936296). In the last step of catalysis, the product, preuroporphyrinogen, is released, leaving the cofactor bound to the holodeaminase intact (PubMed:18936296). {ECO:0000269|PubMed:18004775, ECO:0000269|PubMed:18936296, ECO:0000269|PubMed:19138865, ECO:0000269|PubMed:23815679}.
uniprot
proteins
mass_dalton
39330
uniprot
proteins
mutagenesis
MUTAGEN 26; /note="R->A: Loss of hydroxymethylbilane synthase activity."; /evidence="ECO:0000269|PubMed:18936296"; MUTAGEN 34; /note="Q->A: Loss of hydroxymethylbilane synthase activity."; /evidence="ECO:0000269|PubMed:18936296"; MUTAGEN 120; /note="H->A: Decreased hydroxymethylbilane synthase activity."; /evidence="ECO:0000269|PubMed:18936296"; MUTAGEN 120; /note="H->P: Loss of hydroxymethylbilane synthase activity."; /evidence="ECO:0000269|PubMed:18936296"; MUTAGEN 195; /note="R->A: Loss of hydroxymethylbilane synthase activity."; /evidence="ECO:0000269|PubMed:18936296
uniprot
proteins
pathway_participation
PATHWAY: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 2/4. {ECO:0000269|PubMed:19138865}.
uniprot
proteins
protein_family
HMBS family
uniprot
proteins
pubmed
10453740
uniprot
proteins
pubmed
10494093
uniprot
proteins
pubmed
10502788
uniprot
proteins
pubmed
10602775
uniprot
proteins
pubmed
10657149
uniprot
proteins
pubmed
10782018
uniprot
proteins
pubmed
11013452
uniprot
proteins
pubmed
11030413
uniprot
proteins
pubmed
11399210
uniprot
proteins
pubmed
11857754
uniprot
proteins
pubmed
12372055
uniprot
proteins
pubmed
12406973
uniprot
proteins
pubmed
12773194
uniprot
proteins
pubmed
1301948
uniprot
proteins
pubmed
1427766
uniprot
proteins
pubmed
14669009
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14757946
uniprot
proteins
pubmed
1496994
uniprot
proteins
pubmed
14970743
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15669678
uniprot
proteins
pubmed
1577472
uniprot
proteins
pubmed
16211556
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
1714233
uniprot
proteins
pubmed
18004775
uniprot
proteins
pubmed
18406650
uniprot
proteins
pubmed
18936296
uniprot
proteins
pubmed
19138865
uniprot
proteins
pubmed
19207107
uniprot
proteins
pubmed
19292878
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
2243128
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23815679
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25703257
uniprot
proteins
pubmed
25870942
uniprot
proteins
pubmed
2609111
uniprot
proteins
pubmed
27558376
uniprot
proteins
pubmed
2875434
uniprot
proteins
pubmed
29360981
uniprot
proteins
pubmed
34089223
uniprot
proteins
pubmed
3422427
uniprot
proteins
pubmed
3816774
uniprot
proteins
pubmed
7757070
uniprot
proteins
pubmed
7866402
uniprot
proteins
pubmed
7916736
uniprot
proteins
pubmed
7962538
uniprot
proteins
pubmed
8081367
uniprot
proteins
pubmed
8262523
uniprot
proteins
pubmed
8268934
uniprot
proteins
pubmed
8270254
uniprot
proteins
pubmed
8270256
uniprot
proteins
pubmed
8401516
uniprot
proteins
pubmed
8825929
uniprot
proteins
pubmed
9199558
uniprot
proteins
pubmed
9225970
uniprot
proteins
pubmed
9463797
uniprot
proteins
pubmed
9654202
uniprot
proteins
sequence_length
361
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P22907}.
uniprot
proteins