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Description for Protein HMBS

hydroxymethylbilane synthase
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This 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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.5.1.61
KEGG - Orthology:
K01749
KEGG - Pathway(s):
hsa00860; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Pre-uroporphyrinogen synthase; Hydroxymethylbilane synthase isoform 1; Hydroxymethylbilane synthase isoform 2; Uroporphyrinogen I synthase; Uroporphyrinogen I synthetase; UPS; PBG-D; Hydroxymethylbilane synthase; PBGD
Approved Symbol:
HMBS
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 1
Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Porphyria, acute intermittent(Pd);
  • Porphyria, acute intermittent, nonerythroid variant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01440 Entrez Gene ID: 3145 OMIM ID: 609806 Swissprot Accession: P08397;