HMBS - hydroxymethylbilane synthase Gene

Also Known as UPS; PBGD; PORC; PBG-D

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3145

About HMBS

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,084,881-119,093,549 (from NCBI)

This gene has 36 transcripts (splice variants), 234 orthologues and is associated with 2 phenotypes. Biased expression in bone marrow (RPKM 55.8), colon (RPKM 5.0) and 13 other tissues.

Summary

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]

HMBS Products (4)

mRNA	Protein	Name
NM_000190.4	NP_000181.2	porphobilinogen deaminase isoform 1
NM_001024382.2	NP_001019553.1	porphobilinogen deaminase isoform 2
NM_001258208.2	NP_001245137.1	porphobilinogen deaminase isoform 3
NM_001258209.2	NP_001245138.1	porphobilinogen deaminase isoform 4

HMBS Protein Structure

Porphobil_deam

Porphobil_deamC

0
100
200
300
361 a.a.

Protein Preferred Names	Protein Names
porphobilinogen deaminase	porphyria, acute

HMBS Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HMBS	P08397	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	HMBS	P08397	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	HMBS	P08397	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	HMBS	P08397	PICK1	Homo sapiens	Q9NRD5	Y2H Prey Pooling	32296183
Intra	HMBS	P08397	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
Intra	HMBS	P08397	PICK1	Homo sapiens	Q9NRD5	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant HMBS Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70269	HMBS/Porphobilinogen deaminase Protein, Human (HEK293, His)	P08397-1 (S2-H361)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P70269A	HMBS/Porphobilinogen deaminase Protein, Human (N-His)	P08397-1 (S2-H361)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P70269Y	HMBS/Porphobilinogen deaminase Protein, Human (HEK293, His, solution)	P08397-1 (S2-H361)	≥ 95%, as determined by reducing SDS-PAGE.

HMBS Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83316	HMBS Antibody (YA3061)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Porphyria, Acute Intermittent	Acute Intermittent Porphyria Porphobilinogen Deaminase Deficiency Pbgd Deficiency AIP Porphyria, Swedish Type Uroporphyrinogen Synthase Deficiency Ups Deficiency Porphyria, Acute Intermittent, Nonerythroid Variant Hydroxymethylbilane Synthase Deficiency Aip - Acute Intermittent Porphyria Porphyria Intermittent Acute Pyrroloporphyria Hmbs Deficiency Porphyria Acute Intermittent
Acute Porphyria	Porphyrias, Hepatic Hepatic Porphyria Porphyria Hepatic Acute Intermittent Porphyria
Porphyria	Hematoporphyria Porphyrias Disorder Of Porphyrin And Hem Metabolism Disorder Of Porphyrin Metabolism Porphyrinopathy Porphyrin Disorder Disorder Of Porphyrin And Heme Metabolism Disorders Of Porphyrin Metabolism
Variegate Porphyria	Porphyria Variegata Protoporphyrinogen Oxidase Deficiency VP Ppox Deficiency Porphyria, South African Type Porphyria Variegata, Susceptibility To Protocoproporphyria Porphyria Variegate Porphyria South African Type Pv Porphyria, Variegate Vp - [Variegate Porphyria]
Coproporphyria, Hereditary	Hereditary Coproporphyria Coproporphyria Coproporphyrinogen Oxidase Deficiency HCP Cpo Deficiency Cpox Deficiency Cpx Deficiency Hereditary Coproporphyria Porphyria Cpro Deficiency Coproporphyria Hereditary Porphyria Hepatica Ii Porphyria Hepatica Coproporphyria Porphyria, Hereditary Coproporphyria Harderoporphyria
Porphyria Cutanea Tarda	Hepatoerythropoietic Porphyria HEP Uroporphyrinogen Decarboxylase Deficiency Pct Pct, Type Ii Porphyria, Hepatocutaneous Type Urod Deficiency Porphyria, Hepatoerythropoietic Porphyria Cutanea Tarda, Susceptibility To Familial Porphyria Cutanea Tarda Porphyria Cutanea Tarda, Type Ii Pct, 'Familial' Type Porphyria, Hepatic FPCT Pct Type Ii Porphyria Cutanea Tarda Type Ii Porphyria Hepatocutaneous Type Heterozygous Uroporphyrinogen Decarboxylase Deficiency Urod - [Uroporphyrinogen Decarboxylase] Deficiency Pct - [Porphyria Cutanea Tarda]
Anxiety	Anxiety Disorder Anxiety Disorders Anxiety State Anxieties Anxiety Neurosis
O'Nyong'Nyong Fever	O'Nyong-Nyong Fever O'Nyong-Nyong Mosquito-Borne Viral Fever O'Nyong-Nyong Arthritis Onn - [O'Nyong-Nyong Fever]
Colonic Pseudo-Obstruction	Primary Chronic Pseudo-Obstruction Of Colon
Lichen Sclerosus Et Atrophicus	Lichen Sclerosus LSA Lichen Sclerosis Lichen Sclerosis Et Atrophicus Ls Et A - [Lichen Sclerosus Et Atrophicus] Lichen Albus
Porphyria, Congenital Erythropoietic	Congenital Erythropoietic Porphyria Gunther Disease CEP Uros Deficiency Günther Disease Uroporphyrinogen Iii Synthase Deficiency Congenital Porphyria Uroporphyrinogen Iii Synthase, Deficiency Of Porphyria, Erythropoietic, Congenital Porphyria, Erythropoietic Deficiency Of Uroporphyrinogen Iii Synthase
Gilles De La Tourette Syndrome	Tourette Syndrome Tourette Disorder GTS Ts Gilles De La Tourette'S Syndrome Motor-Verbal Tic Disorder Guinon'S Disease Psychogenic Tics Tourette'S Syndrome Chronic Motor And Vocal Tic Disorder Td Tourette'S Disease Combined Vocal And Multiple Motor Tic Disorder [De La Tourette] Combined Vocal And Multiple Motor Tic Disorder Tic De La Tourette
Cutaneous Porphyria	Porphyria, Erythropoietic Erythropoietic Porphyria
Protoporphyria, Erythropoietic, 1	Erythropoietic Protoporphyria Epp Ferrochelatase Deficiency Protoporphyria, Erythropoietic Erythrohepatic Protoporphyria Heme Synthetase Deficiency Autosomal Erythropoietic Protoporphyria EPP1 Protoporphyria Protoporphyria Erythropoietic
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Fowler Syndrome Encephaloclastic Proliferative Vasculopathy Hydrocephaly/Hydranencephaly Due To Cerebral Vasculopathy PVHH Epv Cerebral Proliferative Glomeruloid Vasculopathy Hydranencephaly, Fowler Type Proliferative Vasculopathy And Hydranencephaly/Hydrocephaly Fowler'S Syndrome Fowler Christmas Chapple Syndrome Fowler Vasculopathy Polycystic Ovaries Urethral Sphincter Dysfunction Voiding Dysfunction And Polycystic Ovaries Fowler Vasculopaty Hydranencephaly Fowler Type Pgv Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome
Sarcoma, Synovial	Synovial Sarcoma Synovialosarcoma Synovial Cell Sarcoma Sarcoma Synovial
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P991029	Sutacimig	Activator	99.08%	Phase 2

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-119524	Clofibride		/	Unkown
HY-137281	HMB-Val-Ser-Leu-VE	Inhibitor	/	Unkown
HY-RS06224	HMBS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18945	Hmbs Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25435	Hmbs Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HMBS	MGD	MGI:96112
Bos taurus	HMBS	VGNC	VGNC:29870
Rattus norvegicus	HMBS	RGD	RGD:2801
Macaca mulatta	HMBS	VGNC	VGNC:73479
Felis catus	HMBS	VGNC	VGNC:67590
Canis familiaris	HMBS	VGNC	VGNC:41704
Others	HMBS	NCBI