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EC Tree
The expected taxonomic range for this enzyme is: Eukaryota, Bacteria
Synonyms
5'-PsiMPase, haloacid dehalogenase-like hydrolase domain-containing 1, HDHD1, pseudouridine 5'-monophosphatase,
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haloacid dehalogenase-like hydrolase domain-containing 1
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pseudouridine 5'-monophosphatase
5'-PsiMPase
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HDHD1
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pseudouridine 5'-monophosphatase
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pseudouridine 5'-monophosphatase
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pseudouridine 5'-phosphate + H2O = pseudouridine + phosphate
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pseudouridine 5'-phosphohydrolase
Requires Mg2+ for activity.
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pseudouridine 5'-phosphate + H2O
pseudouridine + phosphate
pseudouridine 5'-phosphate + H2O
pseudouridine + phosphate
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pseudouridine 5'-phosphate + H2O
pseudouridine + phosphate
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catalytic efficiency with 3'-AMP, fructose 1,6-bisphosphate, fructose 6-phosphate, 5'-UMP or FMN is less than 1% compared to pseudouridine 5'-phosphate
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pseudouridine 5'-phosphate + H2O
pseudouridine + phosphate
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Mg2+
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required for activity
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additional information
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not inhibited by 5'-UMP at a concentration of 0.3 mM, 1-methylpseudouridine barely inhibits, no inhibition with uridine and adenosine
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Ichthyosis
Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.
Ichthyosis
HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase.
Intellectual Disability
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31.
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0.00038
pseudouridine 5'-phosphate
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pH 7.1, 30°C
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1.6
pseudouridine 5'-phosphate
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pH 7.1, 30°C
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4184
pseudouridine 5'-phosphate
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pH 7.1, 30°C
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brenda
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pseudouridine-5'-phosphatase activity is 1.5-fold higher in erythrocytes from women compared with men
brenda
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malfunction
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X-linked ichthyosis patients harbour a combined deletion of the STS gene (the X-linked ichthyosis gene) and the HDHD1 gene
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HDHD1_HUMAN
228
0
25249
Swiss-Prot
other Location (Reliability: 4 )
HDHD1_MOUSE
234
0
26161
Swiss-Prot
other Location (Reliability: 5 )
GS1_DROME
231
0
25785
Swiss-Prot
other Location (Reliability: 3 )
A0A5B7A257_DAVIN
154
0
16871
TrEMBL
Mitochondrion (Reliability: 4 )
A0A6J8C8W2_MYTCO
229
0
25940
TrEMBL
other Location (Reliability: 3 )
E3TE93_ICTPU
227
0
25514
TrEMBL
other Location (Reliability: 3 )
A0A7R8HAC7_LEPSM
248
0
28277
TrEMBL
other Location (Reliability: 2 )
A0A1D3K281_9PSED
229
0
24869
TrEMBL
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Preumont, A.; Rzem, R.; Vertommen, D.; Van Schaftingen, E.
HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5-phosphatase
Biochem. J.
431
237-244
2010
Homo sapiens
brenda
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3.1.3.96 pseudouridine 5'-phosphatase
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