Protein Hmbs

URN	urn:agi-llid:3145
Total Entities	0
Connectivity	133
Name	Hmbs
Description	hydroxymethylbilane synthase
Notes	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]

GO Molecular Function	transferase activity
	hydroxymethylbilane synthase activity
	uroporphyrinogen-III synthase activity
	amine binding
	carboxylic acid binding
	coenzyme binding

GO Biological Process	small molecule metabolic process
	heme biosynthetic process
	protoporphyrinogen IX biosynthetic process
	organ regeneration
	astrocyte differentiation
	response to drug
	response to amino acid
	response to carbohydrate
	response to estradiol
	cellular response to dexamethasone stimulus
	response to metal ion
	response to lead ion
	response to cobalt ion
	response to zinc ion
	cellular response to lead ion
	cellular response to arsenic-containing substance
	cellular response to cytokine stimulus
	cellular response to amine stimulus
	cellular response to antibiotic
	response to hormone
	response to methylmercury
	response to organic cyclic compound
	response to vitamin
	response to hypoxia
	response to nutrient levels
	tetrapyrrole biosynthetic process
	porphyrin-containing compound biosynthetic process
	porphyrin-containing compound metabolic process
	peptidyl-pyrromethane cofactor linkage

Pathway	heme biosynthetic pathway

Group	Tetrapyrroles biosynthesis
	small molecule metabolic process
	heme biosynthetic process
	protoporphyrinogen IX biosynthetic process
	organ regeneration
	astrocyte differentiation
	response to drug
	response to amino acid
	response to carbohydrate
	response to estradiol
	cellular response to dexamethasone stimulus
	response to metal ion
	response to lead ion
	response to cobalt ion
	response to zinc ion
	cellular response to lead ion
	cellular response to arsenic-containing substance
	cellular response to cytokine stimulus
	cellular response to amine stimulus
	cellular response to antibiotic
	response to hormone
	response to methylmercury
	response to organic cyclic compound
	response to vitamin
	response to hypoxia
	response to nutrient levels
	transferase activity
	hydroxymethylbilane synthase activity
	uroporphyrinogen-III synthase activity
	tetrapyrrole biosynthetic process
	porphyrin-containing compound biosynthetic process
	porphyrin-containing compound metabolic process
	peptidyl-pyrromethane cofactor linkage
	amine binding
	carboxylic acid binding
	coenzyme binding
	cytoplasm
	cytosol
	condensed chromosome
	nucleus
	axon

Cell Localization	Cytoplasm

Alias	UPS
	PBGD
	PORC
	PBG-D
	porphobilinogen deaminase
	uroporphyrinogen I synthase
	pre-uroporphyrinogen synthase
	uroporphyrinogen I synthetase
	porphyria, acute; Chester type
	Uros1
	T25658
	hemC
	URO-S
	alternative name: porphobilinogen deaminase
	Pre-uroporphyrinogen synthetase
	porphyria, acute; Chester type gene
	Uros I
	acute porphyria protein
	uroporphyrinogen synthetase URO-S
	hmbs
	acute porphyria gene
	Chester type porphyria protein
	acute porphyria (Chester type) protein
	acute porphyria, Chester type gene
	Chester type porphyria gene
	acute porphyria (Chester type) gene
	Hydroxymethylbilane synthase
	Hydroxymethylbilane synthetase
	LOC235314
	MGC108753
	acute porphyria, Chester type protein

Mouse chromosome position	9 24.84 cM
	9 26.0 cM

OMIM ID	609806
	176000

Rat chromosome position	8q22

Hugo ID	4982

Human chromosome position	11q23.3

PIR ID	A36513
	A45012

EC Number	2.5.1.61
	4.3.1.8

Homologene ID	158

MGI ID	96112

RGD ID	2801

MedScan ID	3145