DCUP_HUMAN
Source:
hRBCD
; ID:
IPI00301489
PM23856902
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
UROD
Protein names and data:
DCUP_HUMAN
, Uroporphyrinogen decarboxylase; UPD; URO-D; 4.1.1.37
Lenght: 367 a.a.
Mass: 40787 Da
fasta formatted sequence
Function:
Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.
Catalytic activity:
Uroporphyrinogen III = coproporphyrinogen + 4 CO(2).
Pathway:
Porphyrin-containing compound metabolism; protoporphyrin- IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 4/4.
Disease:
( OMIM:
176100
613521
)
Familial porphyria cutanea tarda (FPCT) [MIM:176100]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Note=The disease is caused by mutations affecting the gene represented in this entry. Hepatoerythropoietic porphyria (HEP) [MIM:176100]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. HEP is a cutaneous porphyria that presents in infancy. It is characterized biochemically by excessive excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes. Uroporphyrinogen decarboxylase levels are very low in erythrocytes and cultured skin fibroblasts. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm.
Genetic variants
15 - 15
K -> E (in dbSNP:rs11541959). VAR_060683
11541959
25 - 25
G -> E (in FPCT; insoluble protein). VAR_022567
46 - 46
F -> L (in HEP; mild phenotype; strong decrease of activity). VAR_022568
62 - 62
P -> L (in HEP). VAR_009103
77 - 77
P -> L (in dbSNP:rs1131147). VAR_067457
1131147
80 - 80
A -> G (in HEP). VAR_007910
80 - 80
A -> S (in FPCT; decrease of activity). VAR_022569
106 - 106
P -> L (in dbSNP:rs11541962). VAR_060684
11541962
113 - 113
R -> T (in dbSNP:rs11541963). VAR_060685
11541963
134 - 134
V -> Q (in FPCT and HEP; requires 2 nucleotide substitutions; nearly normal activity). VAR_009104
142 - 142
R -> Q (in FPCT). VAR_010985
144 - 144
R -> P (in FPCT; decrease of activity). VAR_022570
156 - 156
G -> D (in FPCT; decrease of activity). VAR_022571
161 - 161
L -> Q (in FPCT). VAR_010986
165 - 165
M -> R (in FPCT; activity < 2%). VAR_007911
167 - 167
E -> K (in HEP and FPCT; nearly normal activity). VAR_007714
168 - 168
G -> R (in HEP; relative activity of 65% of wild-type towards uroporphyrinogen III). VAR_065558
170 - 170
G -> D (in HEP; relative activity of 17% and 60% of wild-type towards uroporphyrinogen I and III respectively). VAR_065559
193 - 193
R -> P (in FPCT; insoluble protein). VAR_022572
195 - 195
L -> F (in FPCT). VAR_007912
216 - 216
L -> Q (in FPCT). VAR_022573
218 - 218
E -> K (in FPCT; significant decrease of activity). VAR_022574
219 - 219
S -> F (in FPCT). VAR_010987
220 - 220
H -> P (in HEP; mild form). VAR_009105
229 - 229
F -> L (in FPCT). VAR_009106
232 - 232
F -> L (in FPCT; decrease of activity). VAR_022575
235 - 235
P -> S (in FPCT). VAR_010988
253 - 253
L -> Q (in FPCT; decrease of activity; dbSNP:rs36033115). VAR_007913
36033115
260 - 260
I -> T (in FPCT; decrease of activity). VAR_022576
281 - 281
G -> E (in FPTC and HEP). VAR_007715
281 - 281
G -> V (in FPCT). VAR_007716
282 - 282
L -> R (in FPCT). VAR_022577
292 - 292
R -> G (in HEP). VAR_007717
303 - 303
G -> S (in FPCT). VAR_022578
303 - 303
G -> V (in dbSNP:rs17849533). VAR_060686
17849533
304 - 304
N -> K (in FPCT). VAR_007914
311 - 311
Y -> C (in HEP). VAR_009107
318 - 318
G -> R (in FPCT; dbSNP:rs116233118). VAR_007915
116233118
324 - 324
M -> T (in FPCT). VAR_009108
332 - 332
R -> H (in FPCT). VAR_007916
334 - 334
I -> T (in FPCT). VAR_007917
Database cross-references
UniProt:
P06132
Ensembl:
ENST00000246337
MIM:
176100
MIM:
613521
neXtProt:
NX_P06132
Antibodypedia:
P06132
(may not find the protein thus also not any antibody)
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