Hmbs - hydroxymethylbilane synthase Gene

Also Known as Ups; PBGD; Uros1

Species: Mus musculus

Gene Type: protein coding
Gene ID: 15288

Summary

Predicted to enable several functions, including amine binding activity; hydroxymethylbilane synthase activity; and uroporphyrinogen-III synthase activity. Predicted to be involved in heme biosynthetic process; liver development; and response to xenobiotic stimulus. Predicted to be located in several cellular components, including axon; cytosol; and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. Predicted to colocalize with condensed chromosome. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and respiratory system. Used to study acute intermittent porphyria. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Orthologous to human HMBS (hydroxymethylbilane synthase). [provided by Alliance of Genome Resources, Apr 2022]

Hmbs Products (2)

mRNA Protein Name
NM_001110251.1 NP_001103721.1 porphobilinogen deaminase isoform 2
NM_013551.2 NP_038579.2 porphobilinogen deaminase isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables hydroxymethylbilane synthase activity IDA
IDA: Inferred from direct assay
6930671 MGI
Biological Process GO Annotation Evidence References Source
involved in heme A biosynthetic process IMP
IMP: Inferred from mutant phenotype
8563760 MGI
involved in heme B biosynthetic process IMP
IMP: Inferred from mutant phenotype
8563760 MGI
involved in heme O biosynthetic process IMP
IMP: Inferred from mutant phenotype
8563760 MGI
Cellular Component GO Annotation Evidence References Source
is active in cytosol IDA
IDA: Inferred from direct assay
8563760 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

porphobilinogen deaminase

  • PBG-D

  • pre-uroporphyrinogen synthase

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)
Cat. No. Product Name Effect
Purity Phase
HY-P991029 Sutacimig Activator 99.08% Phase 2

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-119524 Clofibride / Unkown
HY-137281 HMB-Val-Ser-Leu-VE Inhibitor / Unkown
HY-RS06224 HMBS Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18945 Hmbs Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25435 Hmbs Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Hmbs NCBI NCBI:3145