InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HMBS

Summary

InnateDB Protein

IDBP-74235.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HMBS

Protein Name

hydroxymethylbilane synthase

Synonyms

PBG-D; PBGD; PORC; UPS;

Species

Homo sapiens

Ensembl Protein

ENSP00000278715

InnateDB Gene

IDBG-547212 (HMBS)

Protein Structure

UniProt Annotation

Function

Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.

Subcellular Localization

Cytoplasm {ECO:0000305}.

Disease Associations

Acute intermittent porphyria (AIP) [MIM:176000]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. {ECO:0000269PubMed:10453740, ECO:0000269PubMed:10494093, ECO:0000269PubMed:10502788, ECO:0000269PubMed:10602775, ECO:0000269PubMed:10657149, ECO:0000269PubMed:10782018, ECO:0000269PubMed:11013452, ECO:0000269PubMed:11030413, ECO:0000269PubMed:11399210, ECO:0000269PubMed:11857754, ECO:0000269PubMed:12372055, ECO:0000269PubMed:12406973, ECO:0000269PubMed:1301948, ECO:0000269PubMed:1427766, ECO:0000269PubMed:14669009, ECO:0000269PubMed:1496994, ECO:0000269PubMed:14970743, ECO:0000269PubMed:15669678, ECO:0000269PubMed:1714233, ECO:0000269PubMed:2243128, ECO:0000269PubMed:7757070, ECO:0000269PubMed:7962538, ECO:0000269PubMed:8081367, ECO:0000269PubMed:8262523, ECO:0000269PubMed:8268934, ECO:0000269PubMed:8270254, ECO:0000269PubMed:8270256, ECO:0000269PubMed:8401516, ECO:0000269PubMed:8825929, ECO:0000269PubMed:9199558, ECO:0000269PubMed:9225970, ECO:0000269PubMed:9463797, ECO:0000269PubMed:9654202, ECO:0000269Ref.44}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells. {ECO:0000269PubMed:3422427}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004418	hydroxymethylbilane synthase activity
GO:0016740	transferase activity
GO:0031406	carboxylic acid binding
GO:0043176	amine binding
GO:0050662	coenzyme binding

Biological Process

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

Cellular Component

GO:0000793	condensed chromosome
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005829	cytosol

Protein Structure and Domains

PDB ID

InterPro

IPR000860 Tetrapyrrole biosynthesis, hydroxymethylbilane synthase
IPR022417 Porphobilinogen deaminase, N-terminal
IPR022418 Porphobilinogen deaminase, C-terminal

PFAM

PF01379
PF03900

PRINTS

PR00151

PIRSF

PIRSF001438

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt