HMBS

Description		hydroxymethylbilane synthase
Image
GO Annotations	Cellular Component	Cytoplasm Cytosol
	Molecular Function	Hydroxymethylbilane Synthase Activity Protein Binding Transferase Activity
	Biological Process	Porphyrin-containing Compound Biosynthetic Process Protoporphyrinogen IX Biosynthetic Process Heme Biosynthetic Process Heme A Biosynthetic Process Heme B Biosynthetic Process Tetrapyrrole Biosynthetic Process Heme O Biosynthetic Process
Pathways		Heme biosynthesis
Drugs
Diseases		Hepatic porphyria, including: Porphyria Cutanea Tarda (PCT); VHepatoerythropoietic porphyria; Acute Intermittent Porphyria (AIP); Variegate porphyria (VP); ALA-dehydratase deficiency porphyria (ALADP); Hereditary Coproporphyria (HCP)
GWAS		Apolipoprotein A1 levels ( 32203549)
Novel Interacting Genes		1 novel interacting genes: ETS1
Interacting Genes		5 interacting genes: APP GSK3A PICK1 RANBP9 ZDHHC17
Entrez ID		3145
HPRD ID		01440
Ensembl ID		ENSG00000256269
Uniprot IDs		A0A3F2YNY7 A0A8I5KXV4 P08397
PDB IDs		3ECR 3EQ1 5M6R 5M7F 7AAJ 7AAK 7CCX 7CCY 7CCZ 7CD0 8PND
Enriched GO Terms of Interacting Partners?		Positive Regulation Of Amyloid Precursor Protein Catabolic Process Regulation Of Amyloid Precursor Protein Catabolic Process Signaling Receptor Binding Positive Regulation Of Receptor Internalization Neuron Projection Organization Regulation Of ERK1 And ERK2 Cascade Positive Regulation Of G Protein-coupled Receptor Signaling Pathway Amyloid-beta Complex Growth Cone Lamellipodium Regulation Of Response To Calcium Ion Positive Regulation Of Neuron Apoptotic Process Regulation Of Carbohydrate Catabolic Process Regulation Of MiRNA Transcription Amylin Binding Positive Regulation Of Toll Signaling Pathway G Protein-coupled Receptor Binding Positive Regulation Of Receptor-mediated Endocytosis Regulation Of Receptor Internalization Glial Cell Development Negative Regulation Of UDP-glucose Catabolic Process Perforant Pathway To Dendrate Granule Cell Synapse Regulation Of MiRNA Metabolic Process Modulation Of Chemical Synaptic Transmission Acetylcholine Receptor Activator Activity Negative Regulation Of Canonical Wnt Signaling Pathway PTB Domain Binding Collateral Sprouting In Absence Of Injury Regulation Of Protein Import Regulation Of Establishment Of Protein Localization Trans-Golgi Network Membrane Endosome To Plasma Membrane Transport Vesicle Negative Regulation Of Signaling Positive Regulation Of Endothelin Production Growth Cone Filopodium Regulation Of Receptor-mediated Endocytosis Lipoprotein Particle Regulation Of Programmed Cell Death Phospholipase D-activating G Protein-coupled Receptor Signaling Pathway Positive Regulation Of Protein Import Microglia Development Positive Regulation Of G Protein-coupled Receptor Internalization Negative Regulation Of Cell Communication Regulation Of MAPK Cascade Regulation Of Generation Of Precursor Metabolites And Energy Negative Regulation Of Type B Pancreatic Cell Development Negative Regulation Of Glycogen (starch) Synthase Activity Positive Regulation Of Adenylate Cyclase-activating Adrenergic Receptor Signaling Pathway Presynaptic Membrane Postsynaptic Golgi Apparatus Regulation Of Modification Of Synapse Structure, Modulating Synaptic Transmission
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