Gene

hmbsb

ID
ZDB-GENE-050522-491
Name
hydroxymethylbilane synthase, b
Symbol
hmbsb Nomenclature History
Previous Names
  • hmbsl
  • id:ibd5004
  • im:7140060
  • zgc:110690 (1)
Type
protein_coding_gene
Location
Chr: 15 Mapping Details/Browsers
Description
Predicted to have hydroxymethylbilane synthase activity. Predicted to be involved in heme biosynthetic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Is expressed in hematopoietic system; mesoderm; and post-vent region. Orthologous to human HMBS (hydroxymethylbilane synthase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
8 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With hmbsb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
acute intermittent porphyria Alliance Porphyria, acute intermittent 176000
acute intermittent porphyria Alliance Porphyria, acute intermittent, nonerythroid variant 176000
Encephalopathy, porphyria-related 620704
Leukoencephalopathy, porphyria-related 620711
Associated With hmbsb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR022419 Porphobilinogen deaminase, dipyrromethane cofactor binding site
Domain IPR022417 Porphobilinogen deaminase, N-terminal
Domain IPR022418 Porphobilinogen deaminase, C-terminal
Family IPR000860 Porphobilinogen deaminase
Homologous_superfamily IPR036803 Porphobilinogen deaminase, C-terminal domain superfamily
Domain Details Per Protein
Protein Length Porphobilinogen deaminase Porphobilinogen deaminase, C-terminal Porphobilinogen deaminase, C-terminal domain superfamily Porphobilinogen deaminase, dipyrromethane cofactor binding site Porphobilinogen deaminase, N-terminal
UniProtKB:Q503D2 360
UniProtKB:A0A8M2B3W7 362
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations