HMBS (hydroxymethylbilane synthase)

2016-01-01 Affiliation

Identity

HGNC

HMBS

LOCATION

11q23.3

LOCUSID

3145

ALIAS

PBG-D,PBGD,PORC,UPS

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3145
MIM: 609806
HGNC: 4982
Ensembl: ENSG00000256269

Variants:

dbSNP: 3145
ClinVar: 3145
TCGA: ENSG00000256269
COSMIC: HMBS

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000256269	ENST00000392841	P08397
ENSG00000256269	ENST00000442944	A0A3F2YNY7
ENSG00000256269	ENST00000535253	F5GY90
ENSG00000256269	ENST00000535793	F5H4W5
ENSG00000256269	ENST00000536813	F5H0P4
ENSG00000256269	ENST00000537841	P08397
ENSG00000256269	ENST00000542729	P08397
ENSG00000256269	ENST00000542822	F5H4Y7
ENSG00000256269	ENST00000543090	F5H345
ENSG00000256269	ENST00000544387	P08397
ENSG00000256269	ENST00000545621	F5H4X2
ENSG00000256269	ENST00000546302	F5H226
ENSG00000256269	ENST00000640813	A0A1W2PNU5
ENSG00000256269	ENST00000648026	A0A3B3IU34
ENSG00000256269	ENST00000648374	P08397
ENSG00000256269	ENST00000648488	A0A3B3IU56
ENSG00000256269	ENST00000649868	A0A3B3IT17
ENSG00000256269	ENST00000650101	A0A3B3IRR1
ENSG00000256269	ENST00000652429	P08397

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Porphyrin and chlorophyll metabolism	KEGG	ko00860
Porphyrin and chlorophyll metabolism	KEGG	hsa00860
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Metabolism of porphyrins	REACTOME	R-HSA-189445
Heme biosynthesis	REACTOME	R-HSA-189451

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA166190681	givosiran	Chemical	LabelAnnotation	associated

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19207107	2009	Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria.	20
30297912	2018	Systemic messenger RNA as an etiological treatment for acute intermittent porphyria.	16
18936296	2009	Structural insight into acute intermittent porphyria.	15
15643298	2005	Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.	12
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
19021769	2008	Hypoxia decreases the expression of the two enzymes responsible for producing linear and cyclic tetrapyrroles in the heme biosynthetic pathway.	10
14669009	2004	Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.	9
11202057	2000	The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.	8
12773194	2003	Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation.	8

Citation

Dessen P

HMBS (hydroxymethylbilane synthase)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55565/hmbs