Mus musculus Gene: Hmbs
Summary
InnateDB Gene IDBG-156815.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Hmbs
Gene Name hydroxymethylbilane synthase
Synonyms PBGD; T25658; Ups; Uros1;
Species Mus musculus
Ensembl Gene ENSMUSG00000032126
Encoded Proteins
hydroxymethylbilane synthase
hydroxymethylbilane synthase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000256269:
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, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:44336350-44344228
Strand Reverse strand
Band A5.2
Transcripts
ENSMUST00000077353 ENSMUSP00000076575
ENSMUST00000097558 ENSMUSP00000095166
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004418 hydroxymethylbilane synthase activity
Biological Process
GO:0006782 protoporphyrinogen IX biosynthetic process
GO:0018160 peptidyl-pyrromethane cofactor linkage
GO:0033014 tetrapyrrole biosynthetic process
Cellular Component
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism pathway
Heme biosynthesis pathway
Metabolism of porphyrins pathway
KEGG
Porphyrin and chlorophyll metabolism pathway
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Heme biosynthesis pathway
Metabolism of porphyrins pathway
Metabolism pathway
Metabolism of porphyrins pathway
Heme biosynthesis pathway
Metabolism pathway
KEGG
Porphyrin and chlorophyll metabolism pathway
INOH
Porphyrin metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.247676
RefSeq NM_001110251 NM_013551
OMIM
CCDS CCDS23106 CCDS52779
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas