HMBS (hydroxymethylbilane synthase)

2016-01-01  

Identity

HGNC
HMBS
LOCATION
11q23.3
LOCUSID
3145
ALIAS
PBG-D,PBGD,PORC,UPS

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000256269ENST00000392841P08397
ENSG00000256269ENST00000442944A0A3F2YNY7
ENSG00000256269ENST00000535253F5GY90
ENSG00000256269ENST00000535793F5H4W5
ENSG00000256269ENST00000536813F5H0P4
ENSG00000256269ENST00000537841P08397
ENSG00000256269ENST00000542729P08397
ENSG00000256269ENST00000542822F5H4Y7
ENSG00000256269ENST00000543090F5H345
ENSG00000256269ENST00000544387P08397
ENSG00000256269ENST00000545621F5H4X2
ENSG00000256269ENST00000546302F5H226
ENSG00000256269ENST00000640813A0A1W2PNU5
ENSG00000256269ENST00000648026A0A3B3IU34
ENSG00000256269ENST00000648374P08397
ENSG00000256269ENST00000648488A0A3B3IU56
ENSG00000256269ENST00000649868A0A3B3IT17
ENSG00000256269ENST00000650101A0A3B3IRR1
ENSG00000256269ENST00000652429P08397

Expression (GTEx)

0
5
10
15
20
25
30
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

PathwaySourceExternal ID
Porphyrin and chlorophyll metabolismKEGGko00860
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of porphyrinsREACTOMER-HSA-189445
Heme biosynthesisREACTOMER-HSA-189451

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166190681givosiranChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
385680552024Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.0
385680552024Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.0
345231262022Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.5
345231262022Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.5
340892232021Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.1
346816682021Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.4
340892232021Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.1
346816682021Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.4
329167042020Brain ventricular enlargement in human and murine acute intermittent porphyria.4
329167042020Brain ventricular enlargement in human and murine acute intermittent porphyria.4
303851472019Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.2
306151152019Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.12
307407342019Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.13
303851472019Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.2
306151152019Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.12

Citation

Dessen P

HMBS (hydroxymethylbilane synthase)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55565/css/meetings/