Cell atlas - HMBS - The Human Protein Atlas

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HMBS

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TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS MOUSE CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Lipid droplets

Human cell
	Vesicles

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GENERAL INFORMATION
Gene name	HMBS
Gene description	Hydroxymethylbilane synthase
Protein class	Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	11
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the lipid droplets.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Lipid droplets (approved)
Mouse	Localized to the Lipid droplets in mouse cells.

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA050659
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the lipid droplets.

Main location

Lipid droplets (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA050659	A-431	Lipid droplets
	HPA050659	U-2 OS	Lipid droplets
	HPA050659	U-251 MG	Lipid droplets

MOUSE CELLS

Main location

Lipid droplets

Mouse gene

ENSMUSG00000032126 (version 83)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location
	HPA050659	NIH 3T3	Lipid droplets

GENE INFORMATION
Gene name	HMBS (HGNC Symbol)
Synonyms	PBGD, PORC, UPS
Description	Hydroxymethylbilane synthase (HGNC Symbol)
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]
Chromosome	11
Cytoband	q23.3
Chromosome location (bp)	119084866 - 119093549
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000256269 (version 83.38)
Entrez gene	3145
UniProt	P08397 (UniProt - Evidence at protein level)
neXtProt	NX_P08397
Antibodypedia	HMBS antibodies

PROTEIN BROWSER

HMBS-001	HMBS-002	HMBS-003	HMBS-004	HMBS-007	HMBS-008	HMBS-010	HMBS-014	HMBS-015	HMBS-025	HMBS-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
HMBS-001 ENSP00000278715 ENST00000278715	P08397 [Direct mapping] Porphobilinogen deaminase Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000793 [condensed chromosome] GO:0001666 [response to hypoxia] GO:0004418 [hydroxymethylbilane synthase activity] GO:0004852 [uroporphyrinogen-III synthase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006778 [porphyrin-containing compound metabolic process] GO:0006782 [protoporphyrinogen IX biosynthetic process] GO:0006783 [heme biosynthetic process] GO:0009725 [response to hormone] GO:0009743 [response to carbohydrate] GO:0010038 [response to metal ion] GO:0010043 [response to zinc ion] GO:0010288 [response to lead ion] GO:0014070 [response to organic cyclic compound] GO:0018160 [peptidyl-pyrromethane cofactor linkage] GO:0030424 [axon] GO:0031100 [organ regeneration] GO:0031406 [carboxylic acid binding] GO:0031667 [response to nutrient levels] GO:0032025 [response to cobalt ion] GO:0032355 [response to estradiol] GO:0033014 [tetrapyrrole biosynthetic process] GO:0033273 [response to vitamin] GO:0042493 [response to drug] GO:0043176 [amine binding] GO:0043200 [response to amino acid] GO:0044281 [small molecule metabolic process] GO:0048708 [astrocyte differentiation] GO:0050662 [coenzyme binding] GO:0051597 [response to methylmercury] GO:0071236 [cellular response to antibiotic] GO:0071243 [cellular response to arsenic-containing substance] GO:0071284 [cellular response to lead ion] GO:0071345 [cellular response to cytokine stimulus] GO:0071418 [cellular response to amine stimulus] GO:0071549 [cellular response to dexamethasone stimulus] Show all	361 aa 39.3 kDa	No	0
HMBS-002 ENSP00000443058 ENST00000542729	P08397 [Direct mapping] Porphobilinogen deaminase Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0004418 [hydroxymethylbilane synthase activity] GO:0005829 [cytosol] 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] Show all	304 aa 33.3 kDa	No	0
HMBS-003 ENSP00000438424 ENST00000544387	P08397 [Direct mapping] Porphobilinogen deaminase Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0004418 [hydroxymethylbilane synthase activity] GO:0005829 [cytosol] 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] Show all	321 aa 34.9 kDa	No	0
HMBS-004 ENSP00000445429 ENST00000543090	F5H345 [Direct mapping] Porphobilinogen deaminase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004418 [hydroxymethylbilane synthase activity] GO:0018160 [peptidyl-pyrromethane cofactor linkage] GO:0033014 [tetrapyrrole biosynthetic process] Show all	330 aa 35.8 kDa	No	0
HMBS-007 ENSP00000444730 ENST00000537841	P08397 [Direct mapping] Porphobilinogen deaminase Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0004418 [hydroxymethylbilane synthase activity] GO:0005829 [cytosol] 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] Show all	344 aa 37.7 kDa	No	0
HMBS-008 ENSP00000440092 ENST00000539986	F5GY90 [Direct mapping] Porphobilinogen deaminase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004418 [hydroxymethylbilane synthase activity] GO:0033014 [tetrapyrrole biosynthetic process] Show all	187 aa 20.9 kDa	No	0
HMBS-010 ENSP00000442079 ENST00000535253	F5GY90 [Direct mapping] Porphobilinogen deaminase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004418 [hydroxymethylbilane synthase activity] GO:0033014 [tetrapyrrole biosynthetic process] Show all	187 aa 20.9 kDa	No	0
HMBS-014 ENSP00000438726 ENST00000536813	F5H0P4 [Direct mapping] Porphobilinogen deaminase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004418 [hydroxymethylbilane synthase activity] GO:0033014 [tetrapyrrole biosynthetic process] Show all	119 aa 13 kDa	No	0
HMBS-015 ENSP00000445599 ENST00000546302	F5H226 [Direct mapping] Porphobilinogen deaminase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004418 [hydroxymethylbilane synthase activity] GO:0033014 [tetrapyrrole biosynthetic process] Show all	191 aa 21.3 kDa	No	0
HMBS-025 ENSP00000392041 ENST00000442944	P08397 [Direct mapping] Porphobilinogen deaminase Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0004418 [hydroxymethylbilane synthase activity] GO:0005829 [cytosol] 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] Show all	344 aa 37.7 kDa	No	0
HMBS-201 ENSP00000376584 ENST00000392841	P08397 [Direct mapping] Porphobilinogen deaminase Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004418 [hydroxymethylbilane synthase activity] GO:0005829 [cytosol] 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] Show all	344 aa 37.7 kDa	No	0

Contact

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.