InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-74235

hydroxymethylbilane synthase

IDBP-244834

hydroxymethylbilane synthase

IDBP-383875

hydroxymethylbilane synthase

IDBP-592885

hydroxymethylbilane synthase

IDBP-601712

hydroxymethylbilane synthase

IDBP-593659

hydroxymethylbilane synthase

IDBP-594052

hydroxymethylbilane synthase

IDBP-600199

hydroxymethylbilane synthase

IDBP-591850

hydroxymethylbilane synthase

IDBP-583962

hydroxymethylbilane synthase

IDBP-586539

hydroxymethylbilane synthase

IDBP-588607

hydroxymethylbilane synthase

IDBP-602467

hydroxymethylbilane synthase

IDBP-588996

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

ENSMUSG00000032126

View Gene Order

ENSBTAG00000005364

Not yet available

Pathways

NETPATH

REACTOME

REACT_9465

Heme biosynthesis pathway

REACT_9431

Metabolism of porphyrins pathway

REACT_111217

Metabolism pathway

KEGG

hsa00860

Porphyrin and chlorophyll metabolism pathway

INOH

INOH website

Porphyrin metabolism pathway

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