Porphobilinogen deaminase

HMBS
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3ECR, 3EQ1
Identifiers
Aliases	HMBS, PBG-D, PBGD, PORC, UPS, hydroxymethylbilane synthase
External IDs	OMIM: 609806; MGI: 96112; HomoloGene: 158; GeneCards: HMBS; OMA:HMBS - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	119,093,834 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	44,255,525 bp
RNA expression pattern
	Top expressed in
	trabecular bone; ; bone marrow; ; bone marrow cells; ; mucosa of transverse colon; ; gonad; ; muscle of thigh; ; apex of heart; ; gastrocnemius muscle; ; right lobe of liver; ; rectum;
	Top expressed in
	fetal liver hematopoietic progenitor cell; ; tibiofemoral joint; ; human fetus; ; spleen; ; body of femur; ; endocardial cushion; ; yolk sac; ; abdominal wall; ; right kidney; ; left lobe of liver;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	transferase activity; hydroxymethylbilane synthase activity;
Cellular component	cytosol; cytoplasm;
Biological process	protoporphyrinogen IX biosynthetic process; tetrapyrrole biosynthetic process; porphyrin-containing compound biosynthetic process; peptidyl-pyrromethane cofactor linkage; heme biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	3145
	15288
	ENSG00000256269
	ENSMUSG00000032126
	P08397
	P22907
	NM_000190; NM_001024382; NM_001258208; NM_001258209
	NM_001110251; NM_013551
	NP_000181; NP_001019553; NP_001245137; NP_001245138
	NP_001103721; NP_038579
	Wikidata
View/Edit Human	View/Edit Mouse

Porphobilinogen deaminase (hydroxymethylbilane synthase, or uroporphyrinogen I synthase) is an enzyme (EC 2.5.1.61) that in humans is encoded by the HMBS gene. Porphobilinogen deaminase is involved in the third step of the heme biosynthetic pathway. It catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane while releasing four ammonia molecules:

4 porphobilinogen + H₂O

\rightleftharpoons

hydroxymethylbilane + 4 NH₃

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000256269 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032126 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000256269 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000032126 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

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