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

• P08397
• A8K2L0
• G3V1P4
• G5EA58
• P08396
• Q16012
• PBG-D

Gene Name

• HMBS

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

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

Protein Classes

PANTHER Classes

Protein / Hydrolase / Deaminase / Porphobilinogen Deaminase

DTO Classes

Protein / Enzyme / Hydrolase / Deaminase / Porphobilinogen Deaminase

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: 574.26   (req: < 5)

Gene RIFs: 58   (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: 574.26   (req: >= 5)

Gene RIFs: 58   (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