You are using an outdated browser. Please upgrade your browser to improve your experience.

Tbio
HMBS
Porphobilinogen deaminase

Protein Summary
Description
Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000278715
  • ENSP00000278715
  • ENSG00000256269
  • ENST00000392841
  • ENSP00000376584
  • ENST00000537841
  • ENSP00000444730
  • ENST00000539986
  • ENSP00000440092
  • ENST00000542729
  • ENSP00000443058
  • ENST00000544387
  • ENSP00000438424
  • ENST00000626431
  • ENSP00000486122
  • ENSG00000281702
  • ENST00000627066
  • ENSP00000486176
  • ENST00000627967
  • ENSP00000487456
  • ENST00000628117
  • ENSP00000486199
  • ENST00000629150
  • ENSP00000486742
  • ENST00000630574
  • ENSP00000486658
  • ENST00000648223
  • ENSP00000497689
  • ENST00000648374
  • ENSP00000497255

Symbol
  • PBGD
  • UPS
  • UPS
  • PBGD
  • PORC
  • PBG-D
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
0.99
kinase perturbation
0.91
virus perturbation
0.85
transcription factor
0.76
histone modification site profile
0.69


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 501.32   (req: < 5)
Gene RIFs: 48   (req: <= 3)
Antibodies: 349   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 501.32   (req: >= 5)
Gene RIFs: 48   (req: > 3)
Antibodies: 349   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Protein-Protein Interactions (133)
1 – 10 of 133
GABRE
Tclin
Family:  IC
Novelty:  0.03814541
p_int:  0.999890082
p_ni:  0.000109918
Score:  0.303
Data Source:  BioPlex,STRINGDB
ALAD
Tbio
Family:  Enzyme
Novelty:  0.00092757
Score:  0.997
Data Source:  STRINGDB
UROS
Tbio
Family:  Enzyme
Novelty:  0.00938683
Score:  0.996
Data Source:  STRINGDB
UROD
Tbio
Family:  Enzyme
Novelty:  0.00337791
Score:  0.993
Data Source:  STRINGDB
CPOX
Tbio
Family:  Enzyme
Novelty:  0.01097519
Score:  0.948
Data Source:  STRINGDB
FECH
Tchem
Family:  Enzyme
Novelty:  0.00282289
Score:  0.936
Data Source:  STRINGDB
PPOX
Tchem
Family:  Enzyme
Novelty:  0.00652809
Score:  0.932
Data Source:  STRINGDB
ALAS1
Tclin
Family:  Enzyme
Novelty:  0.00965779
Score:  0.839
Data Source:  STRINGDB
SDHA
Tbio
Family:  Enzyme
Novelty:  0.00223171
Score:  0.824
Data Source:  STRINGDB
ALAS2
Tbio
Family:  Enzyme
Novelty:  0.00491418
Score:  0.772
Data Source:  STRINGDB
Pathways (11)
Heme biosynthesis (R-HSA-189451)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Heme biosynthesis
Reactome
Metabolism
Reactome
Metabolism of porphyrins
Name
Explore in Pharos
Explore in Source
Heme biosynthesis
Metabolism
Metabolism of porphyrins
Gene Ontology Terms (6)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
GWAS Traits (23)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean reticulocyte volume
1
2
2
94.6
platelet crit
2
2
2
93.5
lymphocyte count
2
2
2
84.3
body mass index
3
3
3
79.5
waist-hip ratio
2
2
2
75
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean reticulocyte volume
2
94.6
platelet crit
2
93.5
lymphocyte count
2
84.3
body mass index
3
79.5
waist-hip ratio
2
75
Find similar targets by:
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
hydroxymethylbilane synthase
702943
Mouse
MGI:96112
15288
Rat
RGD:2801
25709
Dog
hydroxymethylbilane synthase
VGNC:41704
489373
Cow
hydroxymethylbilane synthase
VGNC:29870
515614
Species
Name
OMA
EggNOG
Inparanoid
Macaque
hydroxymethylbilane synthase
Mouse
Rat
Dog
hydroxymethylbilane synthase
Cow
hydroxymethylbilane synthase
Publication Statistics
PubMed Score 501.32
PubMed score by year
PubTator Score 512.25
PubTator score by year