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Information on EC 3.1.3.96 - pseudouridine 5'-phosphatase

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EC Tree

3 Hydrolases

3.1 Acting on ester bonds

3.1.3 Phosphoric-monoester hydrolases

3.1.3.96 pseudouridine 5'-phosphatase

IUBMB Comments

Requires Mg2+ for activity.

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3.1.3.96
ichthyosis
bovis
dimycocerosates
glycolipids
phthiocerol
x-linked

The expected taxonomic range for this enzyme is: Eukaryota, Bacteria

Reaction Schemes

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pseudouridine 5'-phosphate

H2O

pseudouridine

phosphate

Synonyms

5'-PsiMPase, haloacid dehalogenase-like hydrolase domain-containing 1, HDHD1, pseudouridine 5'-monophosphatase, show all synonyms

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SYNONYM

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

5'-PsiMPase

2 entries

haloacid dehalogenase-like hydrolase domain-containing 1

Homo sapiens

729159

HDHD1

2 entries

pseudouridine 5'-monophosphatase

5'-PsiMPase

HDHD1

pseudouridine 5'-monophosphatase

Homo sapiens

729159

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REACTION

REACTION DIAGRAM

COMMENTARY

ORGANISM

UNIPROT

LITERATURE

pseudouridine 5'-phosphate + H2O = pseudouridine + phosphate

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SYSTEMATIC NAME

IUBMB Comments

pseudouridine 5'-phosphohydrolase

Requires Mg2+ for activity.

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SUBSTRATE

PRODUCT

REACTION DIAGRAM

ORGANISM

UNIPROT

COMMENTARY
(Substrate)

LITERATURE
(Substrate)

COMMENTARY
(Product)

LITERATURE
(Product)

Reversibility
r=reversible
ir=irreversible
?=not specified

pseudouridine 5'-phosphate + H2O

pseudouridine + phosphate

2 entries

pseudouridine 5'-phosphate + H2O

pseudouridine + phosphate

Homo sapiens

729159

pseudouridine 5'-phosphate + H2O

pseudouridine + phosphate

Homo sapiens

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

729159

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NATURAL SUBSTRATE

NATURAL PRODUCT

REACTION DIAGRAM

ORGANISM

UNIPROT

COMMENTARY
(Substrate)

LITERATURE
(Substrate)

COMMENTARY
(Product)

LITERATURE
(Product)

REVERSIBILITY
r=reversible
ir=irreversible
?=not specified

pseudouridine 5'-phosphate + H2O

pseudouridine + phosphate

Homo sapiens

729159

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METALS and IONS

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

Mg2+

Homo sapiens

required for activity

729159

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INHIBITOR

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

IMAGE

Ca2+

pseudouridine

vanadate

additional information

Homo sapiens

not inhibited by 5'-UMP at a concentration of 0.3 mM, 1-methylpseudouridine barely inhibits, no inhibition with uridine and adenosine

729159

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DISEASE

TITLE OF PUBLICATION

LINK TO PUBMED

Ichthyosis

Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.

28122887

Ichthyosis

HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase.

20722631

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.

31963867

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KM VALUE [mM]

SUBSTRATE

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

IMAGE

0.00038

pseudouridine 5'-phosphate

Homo sapiens

pH 7.1, 30°C

729159

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TURNOVER NUMBER [1/s]

SUBSTRATE

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

IMAGE

1.6

pseudouridine 5'-phosphate

Homo sapiens

pH 7.1, 30°C

729159

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kcat/KM VALUE [1/mMs^-1]

SUBSTRATE

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

IMAGE

4184

pseudouridine 5'-phosphate

Homo sapiens

pH 7.1, 30°C

729159

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pH OPTIMUM

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

7.1

Homo sapiens

assay at

729159

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TEMPERATURE OPTIMUM

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

Homo sapiens

assay at

729159

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ORGANISM

COMMENTARY

LITERATURE

UNIPROT

SEQUENCE DB

SOURCE

Homo sapiens

729159

brenda

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SOURCE TISSUE

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

SOURCE

erythrocyte

Homo sapiens

pseudouridine-5'-phosphatase activity is 1.5-fold higher in erythrocytes from women compared with men

729159

brenda

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GENERAL INFORMATION

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

malfunction

Homo sapiens

X-linked ichthyosis patients harbour a combined deletion of the STS gene (the X-linked ichthyosis gene) and the HDHD1 gene

729159

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UNIPROT

ENTRY NAME

ORGANISM

NO. OF AA

NO. OF TRANSM. HELICES

MOLECULAR WEIGHT[Da]

SOURCE

Sequence

Q08623 pBLAST

HDHD1_HUMAN

Homo sapiens

228

25249

Swiss-Prot

Show Sequence

Q9D5U5 pBLAST

HDHD1_MOUSE

Mus musculus

234

26161

Swiss-Prot

Show Sequence

Q94529 pBLAST

GS1_DROME

Drosophila melanogaster

231

25785

Swiss-Prot

Show Sequence

A0A5B7A257 pBLAST

A0A5B7A257_DAVIN

Davidia involucrata

154

16871

TrEMBL

Show Sequence

E3TE93 pBLAST

E3TE93_ICTPU

Ictalurus punctatus

227

25514

TrEMBL

Show Sequence

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MOLECULAR WEIGHT

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

26000

Homo sapiens

gel filtration

729159

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PURIFICATION (Commentary)

ORGANISM

UNIPROT

LITERATURE

partial

Homo sapiens

729159

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REF.

AUTHORS

TITLE

JOURNAL

VOL.

PAGES

YEAR

ORGANISM (UNIPROT)

PUBMED ID

SOURCE

729159

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

20722631

brenda

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EXTERNAL LINKS (specific for EC-Number 3.1.3.96)

NCBI: PubMed, Protein, Nucleotide, Structure, Gene, OMIM

IUBMB Enzyme Nomenclature

UniProt

PDB

PROSITE Database of protein families and domains

InterPro (database of protein families, domains and functional sites)

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