MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001462

Record overview

MGPD IDMGP001462
Gene ID3145
SpeciesHomo sapiens (Human)
Gene Namehydroxymethylbilane synthase
Gene Symbol HMBS
SynonymsUPS; PBGD; PORC; PBG-D;
Alternate namesporphobilinogen deaminase; porphyria, acute; Chester type; pre-uroporphyrinogen synthase; uroporphyrinogen I synthase; uroporphyrinogen I synthetase;
Chromosome11
Map Location11q23.3
EC Number2.5.1.61
SummaryThis gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for HMBS

Proteins

porphobilinogen deaminase isoform 1
Refseq ID:NP_000181
Protein GI:20149500
UniProt ID:P08397
mRNA ID:NM_000190
Length:361
RefSeq Status:
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDL
PTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHN
RVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIH
VPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH
 
porphobilinogen deaminase isoform 2
Refseq ID:NP_001019553
Protein GI:66933009
UniProt ID:P08397
mRNA ID:NM_001024382
Length:344
RefSeq Status:
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRE
NPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQ
GALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVG
ITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH
 
porphobilinogen deaminase isoform 3
Refseq ID:NP_001245137
Protein GI:384551654
UniProt ID:P08397
mRNA ID:NM_001258208
Length:321
RefSeq Status:
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDL
PTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHN
RVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLAN
LLLSKGAKNILDVARQLNDAH
 
porphobilinogen deaminase isoform 4
Refseq ID:NP_001245138
Protein GI:384551656
UniProt ID:P08397
mRNA ID:NM_001258209
Length:304
RefSeq Status:
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRE
NPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQ
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQL
NDAH
 
  logo