Bos taurus Gene: HMBS
Summary
InnateDB Gene IDBG-631690.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HMBS
Gene Name Porphobilinogen deaminase
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000005364
Encoded Proteins
Porphobilinogen deaminase
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 15:30194980-30202275
Strand Forward strand
Band
Transcripts
ENSBTAT00000007052 ENSBTAP00000007052
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004418 hydroxymethylbilane synthase activity
GO:0016740 transferase activity
Biological Process
GO:0006779 porphyrin-containing compound biosynthetic process
GO:0006782 protoporphyrinogen IX biosynthetic process
GO:0006783 heme biosynthetic process
GO:0018160 peptidyl-pyrromethane cofactor linkage
GO:0033014 tetrapyrrole biosynthetic process
Cellular Component
Orthologs
Species
Mus musculus
Homo sapiens
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
Metabolism of porphyrins pathway
Heme biosynthesis pathway
Metabolism pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Metabolism pathway
Heme biosynthesis pathway
Metabolism of porphyrins pathway
Heme biosynthesis pathway
Metabolism of porphyrins pathway
Metabolism pathway
KEGG
Porphyrin and chlorophyll metabolism pathway
Porphyrin and chlorophyll metabolism pathway
INOH
Porphyrin metabolism pathway
PID NCI
Cross-References
SwissProt Q2KIN5
TrEMBL H6S1N6
UniProt Splice Variant
Entrez Gene 515614
UniGene Bt.107485 Bt.21218
RefSeq NM_001046207
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL BC112573 GU817009
GenPept AAI12574 ADX21065
RNA Seq Atlas 515614