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HMBS

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

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Tissue enriched (bone marrow)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 General cytoplasmic and nuclear expression, most abundant in subset of bone marrow cells.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Paired antibodies with similarity supports the protein profile. Pending retesting.

Reliability score

 Supported based on 2 antibodies.
HPA006114 , HPA050659
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer

STAINING SUMMARY
HPA006114
HPA050659

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
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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]
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 361 aa
39.3 kDa 		No 0
HMBS-002
ENSP00000443058
ENST00000542729
P08397 [Direct mapping]
Porphobilinogen deaminase
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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]
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 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]
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 321 aa
34.9 kDa 		No 0
HMBS-004
ENSP00000445429
ENST00000543090
F5H345 [Direct mapping]
Porphobilinogen deaminase
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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]
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 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
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0004418 [hydroxymethylbilane synthase activity]
GO:0033014 [tetrapyrrole biosynthetic process]
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 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
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004418 [hydroxymethylbilane synthase activity]
GO:0033014 [tetrapyrrole biosynthetic process]
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 119 aa
13 kDa 		No 0
HMBS-015
ENSP00000445599
ENST00000546302
F5H226 [Direct mapping]
Porphobilinogen deaminase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004418 [hydroxymethylbilane synthase activity]
GO:0033014 [tetrapyrrole biosynthetic process]
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 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

The Project

The Human Protein Atlas

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