UROD (uroporphyrinogen decarboxylase)

2014-06-01  

Identity

HGNC
LOCATION
1p34.1
LOCUSID
ALIAS
PCT,UPD
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
232096482012Uroporphyrinogen decarboxylase as a potential target for specific components of traditional Chinese medicine: a virtual screening and molecular dynamics study.22
194194172009Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.7
194194172009Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.7
231404362013A possible strategy against head and neck cancer: in silico investigation of three-in-one inhibitors.7
205530072010A tale of two acids: when arginine is a more appropriate acid than H3O+.3
267891432015Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.2
151863242004The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.1
163906152006Dual porphyria with mutations in both the UROD and HMBS genes.1
176277952007Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.1
176277952007Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.1

Citation

Dessen P

UROD (uroporphyrinogen decarboxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53982/urod