UROD (uroporphyrinogen decarboxylase)

2014-06-01  

Identity

HGNC
UROD
LOCATION
1p34.1
LOCUSID
7389
ALIAS
PCT,UPD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7389
MIM: 613521
HGNC: 12591
Ensembl: ENSG00000126088

Variants:

dbSNP: 7389
ClinVar: 7389
TCGA: ENSG00000126088
COSMIC: UROD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126088ENST00000246337P06132
ENSG00000126088ENST00000428106H0Y5R6
ENSG00000126088ENST00000434478Q5T446
ENSG00000126088ENST00000460334A0A494C007
ENSG00000126088ENST00000469548A0A494C0S8
ENSG00000126088ENST00000478467A0A494BZV1
ENSG00000126088ENST00000486699A0A494C1T3
ENSG00000126088ENST00000491773A0A494BZY8
ENSG00000126088ENST00000636293A0A1B0GVZ4
ENSG00000126088ENST00000636836A0A1B0GVN9
ENSG00000126088ENST00000650713A0A494C1D8
ENSG00000126088ENST00000651476A0A494C0Q8
ENSG00000126088ENST00000652165A0A494BZY8
ENSG00000126088ENST00000652287A0A494C085
ENSG00000126088ENST00000652514A0A494C0P4

Expression (GTEx)

0
50
100
150
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
305146472019Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.4
305146472019Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.4
267891432015Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.2
267891432015Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.2
247778122014Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach.1
247778122014Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach.1
231404362013A possible strategy against head and neck cancer: in silico investigation of three-in-one inhibitors.7
235453142013Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.0
231404362013A possible strategy against head and neck cancer: in silico investigation of three-in-one inhibitors.7
235453142013Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.0
223820402012Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.1
232096482012Uroporphyrinogen decarboxylase as a potential target for specific components of traditional Chinese medicine: a virtual screening and molecular dynamics study.22
223820402012Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.1
232096482012Uroporphyrinogen decarboxylase as a potential target for specific components of traditional Chinese medicine: a virtual screening and molecular dynamics study.22
204793012010Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.5

Citation

Dessen P

UROD (uroporphyrinogen decarboxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53982/css/js/web-card-gene.js