UROS (uroporphyrinogen III synthase)

2014-11-01  

Identity

HGNC
UROS
LOCATION
10q26.2
LOCUSID
7390
ALIAS
UROIIIS

Other Information

Locus ID:

NCBI: 7390
MIM: 606938
HGNC: 12592
Ensembl: ENSG00000188690

Variants:

dbSNP: 7390
ClinVar: 7390
TCGA: ENSG00000188690
COSMIC: UROS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188690ENST00000368774Q5T3L7
ENSG00000188690ENST00000368778Q5T3L8
ENSG00000188690ENST00000368786P10746
ENSG00000188690ENST00000368786A0A0S2Z4T8
ENSG00000188690ENST00000368797P10746
ENSG00000188690ENST00000368797A0A0S2Z4T8
ENSG00000188690ENST00000420761Q5T3L9
ENSG00000188690ENST00000462490A0A087WUV7
ENSG00000188690ENST00000464267A0A3B3IS33
ENSG00000188690ENST00000465577A0A3B3IUC8
ENSG00000188690ENST00000616800A0A087WZB7
ENSG00000188690ENST00000622016A0A087X021
ENSG00000188690ENST00000648119A0A3B3ISL9
ENSG00000188690ENST00000648427Q5T3L8
ENSG00000188690ENST00000649275A0A3B3ISX6
ENSG00000188690ENST00000649536A0A3B3ITJ2
ENSG00000188690ENST00000650185A0A3B3IS76
ENSG00000188690ENST00000650524A0A3B3IU75
ENSG00000188690ENST00000650587A0A3B3ISM6

Expression (GTEx)

0
5
10
15
20
25
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

References

Pubmed IDYearTitleCitations
190217692008Hypoxia decreases the expression of the two enzymes responsible for producing linear and cyclic tetrapyrroles in the heme biosynthetic pathway.10
190994122009Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.9
180047752008Human uroporphyrinogen III synthase: NMR-based mapping of the active site.7
213433042011Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.6
199656372010Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.5
172982252006Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.2
215706652011Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria.2
283347622017Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.2
223501542012Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.1
304548682019Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.0

Citation

Dessen P

UROS (uroporphyrinogen III synthase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75516/uros