• Gene id: 3145

Gene Summary

• Gene Symbol: HMBS   Gene   UCSC   Ensembl
• Aliases: PBG-D, PBGD, PORC, UPS
• Gene name: hydroxymethylbilane synthase
• Alternate names: porphobilinogen deaminase, porphyria, acute; Chester type, pre-uroporphyrinogen synthase, uroporphyrinogen I synthase, uroporphyrinogen I synthetase,
• Gene location: 11q23.3 (94128840: 94185595)     Exons: 7     NC_000011.10
• Gene summary(Entrez): 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 hydroxymethy
• OMIM: 609806

Protein Summary

• Protein general information: P08397  
  • Name: Porphobilinogen deaminase (PBG D) (EC 2.5.1.61) (Hydroxymethylbilane synthase) (HMBS) (Pre uroporphyrinogen synthase)
  • Length: 361  
  • Mass: 39330
  • Tissue specificity: Isoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells. {ECO
• Sequence:

  MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKS
  LFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRR
  AAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVR
  AKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIH
  VPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH

• Structural information:
  • Interpro: IPR000860  IPR022419  IPR022417  IPR022418  IPR036803  
  • Prosite: PS00533
  • PDB: 3ECR 3EQ1 5M6R 5M7F
  • PDBsum: 3ECR 3EQ1 5M6R 5M7F
  • STRING: ENSP00000278715
• Other Databases: GeneCards:  HMBS  Malacards:  HMBS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004418	hydroxymethylbilane synthase activity	IBA	molecular function
GO:0006783	heme biosynthetic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004418	hydroxymethylbilane synthase activity	IEA	molecular function
GO:0018160	peptidyl-pyrromethane cofactor linkage	IEA	biological process
GO:0033014	tetrapyrrole biosynthetic process	IEA	biological process
GO:0006779	porphyrin-containing compound biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0004418	hydroxymethylbilane synthase activity	TAS	molecular function
GO:0004418	hydroxymethylbilane synthase activity	IEA	molecular function
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006782	protoporphyrinogen IX biosynthetic process	IEA	biological process
GO:0004418	hydroxymethylbilane synthase activity	IDA	molecular function
GO:0006783	heme biosynthetic process	IC	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00860	Porphyrin and chlorophyll metabolism

Diseases

Associated diseases	References
Porphyria	KEGG:H01763
Hepatic porphyria	KEGG:H00202
Porphyria	KEGG:H01763
Hepatic porphyria	KEGG:H00202
Prostate cancer	PMID:16211407
Sickle cell anemia	PMID:900140
urinary bladder cancer	PMID:16600798
Acute intermittent porphyria	PMID:28990424
seminoma	PMID:15823405
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881