Gene id |
8226 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
PUDP Gene UCSC Ensembl |
Aliases |
DXF68S1E, FAM16AX, GS1, HDHD1, HDHD1A |
Gene name |
pseudouridine 5'-phosphatase |
Alternate names |
pseudouridine-5'-phosphatase, 5'-PsiMPase, family with sequence similarity 16, member A, X-linked, haloacid dehalogenase-like hydrolase domain containing 1, haloacid dehalogenase-like hydrolase domain containing 1A, haloacid dehalogenase-like hydrolase domain-, |
Gene location |
Xp22.31 (7148152: 6768839) Exons: 9 NC_000023.11
|
Gene summary(Entrez) |
This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding differe
|
OMIM |
601041 |
Protein Summary
|
Protein general information
| Q08623
Name: Pseudouridine 5' phosphatase (EC 3.1.3.96) (Haloacid dehalogenase like hydrolase domain containing protein 1) (Haloacid dehalogenase like hydrolase domain containing protein 1A) (Protein GS1) (Pseudouridine 5' monophosphatase) (5' PsiMPase)
Length: 228 Mass: 25249
|
Sequence |
MAAPPQPVTHLIFDMDGLLLDTERLYSVVFQEICNRYDKKYSWDVKSLVMGKKALEAAQIIIDVLQLPMSKEELV EESQTKLKEVFPTAALMPGAEKLIIHLRKHGIPFALATSSGSASFDMKTSRHKEFFSLFSHIVLGDDPEVQHGKP DPDIFLACAKRFSPPPAMEKCLVFEDAPNGVEAALAAGMQVVMVPDGNLSRDLTTKATLVLNSLQDFQPELFGLP SYE
|
Structural information |
|
Other Databases |
GeneCards: PUDP  Malacards: PUDP |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0000287 |
magnesium ion binding
|
IBA |
molecular function |
GO:0016791 |
phosphatase activity
|
IBA |
molecular function |
GO:0016787 |
hydrolase activity
|
IEA |
molecular function |
GO:0016787 |
hydrolase activity
|
IEA |
molecular function |
GO:0046872 |
metal ion binding
|
IEA |
molecular function |
GO:0009117 |
nucleotide metabolic proc ess
|
IEA |
biological process |
GO:1990738 |
pseudouridine 5'-phosphat ase activity
|
IEA |
molecular function |
GO:0043097 |
pyrimidine nucleoside sal vage
|
TAS |
biological process |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0016311 |
dephosphorylation
|
IEA |
biological process |
GO:0016311 |
dephosphorylation
|
IEA |
biological process |
GO:0008150 |
biological_process
|
ND |
biological process |
GO:0003674 |
molecular_function
|
ND |
molecular function |
GO:0000287 |
magnesium ion binding
|
IBA |
molecular function |
GO:0016791 |
phosphatase activity
|
IBA |
molecular function |
GO:0016787 |
hydrolase activity
|
IEA |
molecular function |
GO:0016787 |
hydrolase activity
|
IEA |
molecular function |
GO:0046872 |
metal ion binding
|
IEA |
molecular function |
GO:0009117 |
nucleotide metabolic proc ess
|
IEA |
biological process |
GO:1990738 |
pseudouridine 5'-phosphat ase activity
|
IEA |
molecular function |
GO:0043097 |
pyrimidine nucleoside sal vage
|
TAS |
biological process |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0016311 |
dephosphorylation
|
IEA |
biological process |
GO:0016311 |
dephosphorylation
|
IEA |
biological process |
GO:0008150 |
biological_process
|
ND |
biological process |
GO:0003674 |
molecular_function
|
ND |
molecular function |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Unexplained infertility | MIK: 25753583 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
25753583 |
Unexplaine d infertil ity
|
|
|
46 (17 fertile men, 29 male pa tients)
|
Male infertility |
Microarray
|
Show abstract |
|