Gene id |
64077 |
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
Gene Symbol |
LHPP Gene UCSC Ensembl |
Aliases |
HDHD2B |
Gene name |
phospholysine phosphohistidine inorganic pyrophosphate phosphatase |
Alternate names |
phospholysine phosphohistidine inorganic pyrophosphate phosphatase, hLHPP, |
Gene location |
10q26.13 (17810756: 17793445) Exons: 5 NC_000004.12
|
OMIM |
617231 |
Protein Summary
|
Protein general information
| Q9H008
Name: Phospholysine phosphohistidine inorganic pyrophosphate phosphatase (hLHPP) (EC 3.1.3. ) (EC 3.6.1.1)
Length: 270 Mass: 29165
Tissue specificity: Expressed in brain, and at lower levels in liver and kidney. Detected in thyroid (at protein level). Expressed in liver, kidney and moderately in brain. {ECO
|
Sequence |
MAPWGKRLAGVRGVLLDISGVLYDSGAGGGTAIAGSVEAVARLKRSRLKVRFCTNESQKSRAELVGQLQRLGFDI SEQEVTAPAPAACQILKEQGLRPYLLIHDGVRSEFDQIDTSNPNCVVIADAGESFSYQNMNNAFQVLMELEKPVL ISLGKGRYYKETSGLMLDVGPYMKALEYACGIKAEVVGKPSPEFFKSALQAIGVEAHQAVMIGDDIVGDVGGAQR CGMRALQVRTGKFRPSDEHHPEVKADGYVDNLAEAVDLLLQHADK
|
Structural information |
|
Other Databases |
GeneCards: LHPP  Malacards: LHPP |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0005829 |
cytosol
|
IBA |
cellular component |
GO:0006470 |
protein dephosphorylation
|
IBA |
biological process |
GO:0016311 |
dephosphorylation
|
IBA |
biological process |
GO:0101006 |
protein histidine phospha tase activity
|
IBA |
molecular function |
GO:0004427 |
inorganic diphosphatase a ctivity
|
IBA |
molecular function |
GO:0016791 |
phosphatase activity
|
IBA |
molecular function |
GO:0006796 |
phosphate-containing comp ound metabolic process
|
IDA |
biological process |
GO:0005829 |
cytosol
|
IDA |
cellular component |
GO:0005634 |
nucleus
|
IDA |
cellular component |
GO:0004427 |
inorganic diphosphatase a ctivity
|
IDA |
molecular function |
GO:0042803 |
protein homodimerization activity
|
IPI |
molecular function |
GO:0101006 |
protein histidine phospha tase activity
|
ISS |
molecular function |
GO:0006470 |
protein dephosphorylation
|
ISS |
biological process |
GO:0000287 |
magnesium ion binding
|
ISS |
molecular function |
GO:0016311 |
dephosphorylation
|
IEA |
biological process |
GO:0016791 |
phosphatase activity
|
IEA |
molecular function |
GO:0016787 |
hydrolase activity
|
IEA |
molecular function |
GO:0046872 |
metal ion binding
|
IEA |
molecular function |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0004427 |
inorganic diphosphatase a ctivity
|
IEA |
molecular function |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0009168 |
purine ribonucleoside mon ophosphate biosynthetic p rocess
|
TAS |
biological process |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0016607 |
nuclear speck
|
IDA |
cellular component |
GO:0005829 |
cytosol
|
IDA |
cellular component |
|
|
Pathway id | Pathway name |
hsa00190 | Oxidative phosphorylation | |
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|