Homo sapiens Gene: HMBS
Summary
InnateDB Gene IDBG-547212.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HMBS
Gene Name hydroxymethylbilane synthase
Synonyms PBG-D; PBGD; PORC; UPS;
Species Homo sapiens
Ensembl Gene ENSG00000256269
Encoded Proteins
hydroxymethylbilane synthase
hydroxymethylbilane synthase
hydroxymethylbilane synthase
hydroxymethylbilane synthase
hydroxymethylbilane synthase
hydroxymethylbilane synthase
hydroxymethylbilane synthase
hydroxymethylbilane synthase
hydroxymethylbilane synthase
hydroxymethylbilane synthase
hydroxymethylbilane synthase
hydroxymethylbilane synthase
hydroxymethylbilane synthase
hydroxymethylbilane synthase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:119084866-119093549
Strand Forward strand
Band q23.3
Transcripts
ENST00000278715 ENSP00000278715
ENST00000392841 ENSP00000376584
ENST00000442944 ENSP00000392041
ENST00000536185
ENST00000545901
ENST00000545621 ENSP00000444849
ENST00000536813 ENSP00000438726
ENST00000537841 ENSP00000444730
ENST00000542729 ENSP00000443058
ENST00000543821
ENST00000546302 ENSP00000445599
ENST00000542822 ENSP00000444817
ENST00000542044
ENST00000544387 ENSP00000438424
ENST00000535793 ENSP00000439904
ENST00000543090 ENSP00000445429
ENST00000539986 ENSP00000440092
ENST00000535253 ENSP00000442079
ENST00000542345
ENST00000543543
ENST00000546226
ENST00000544360
ENST00000534956
ENST00000544182
ENST00000539045
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004418 hydroxymethylbilane synthase activity
Biological Process
GO:0006778 porphyrin-containing compound metabolic process
GO:0006782 protoporphyrinogen IX biosynthetic process
GO:0006783 heme biosynthetic process
GO:0018160 peptidyl-pyrromethane cofactor linkage
GO:0033014 tetrapyrrole biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005829 cytosol
Orthologs
Species
Mus musculus
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
Heme biosynthesis pathway
Metabolism of porphyrins 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
RefSeq NM_000190 NM_001024382 NM_001258208 NM_001258209 XM_005271531 XM_005271532 XM_005271533
HUGO
OMIM
CCDS CCDS41726 CCDS58186 CCDS58187 CCDS8409
HPRD 01440
IMGT
EMBL
GenPept
RNA Seq Atlas