Gene id |
3632 |
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
Gene Symbol |
INPP5A Gene UCSC Ensembl |
Aliases |
5PTASE |
Gene name |
inositol polyphosphate-5-phosphatase A |
Alternate names |
inositol polyphosphate-5-phosphatase A, 43 kDa inositol polyphosphate 5-phophatase, 43 kDa inositol polyphosphate 5-phosphatase, CTCL tumor antigen HD-CL-02, InsP3 5-phosphatase, inositol polyphosphate-5-phosphatase, 40kD, inositol polyphosphate-5-phosphatase, , |
Gene location |
10q26.3 (1226453: 1221650) Exons: 7 NC_000016.10
|
Gene summary(Entrez) |
The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses
|
OMIM |
600106 |
Protein Summary
|
Protein general information
| Q14642
Name: Inositol polyphosphate 5 phosphatase A (EC 3.1.3.56) (43 kDa inositol polyphosphate 5 phosphatase) (Type I inositol 1,4,5 trisphosphate 5 phosphatase) (5PTase)
Length: 412 Mass: 47820
Tissue specificity: Predominantly expressed in heart, brain, and skeletal muscle (PubMed
|
Sequence |
MAGKAAAPGTAVLLVTANVGSLFDDPENLQKNWLREFYQVVHTHKPHFMALHCQEFGGKNYEASMSHVDKFVKEL LSSDAMKEYNRARVYLDENYKSQEHFTALGSFYFLHESLKNIYQFDFKAKKYRKVAGKEIYSDTLESTPMLEKEK FPQDYFPECKWSRKGFIRTRWCIADCAFDLVNIHLFHDASNLVAWETSPSVYSGIRHKALGYVLDRIIDQRFEKV SYFVFGDFNFRLDSKSVVETLCTKATMQTVRAADTNEVVKLIFRESDNDRKVMLQLEKKLFDYFNQEVFRDNNGT ALLEFDKELSVFKDRLYELDISFPPSYPYSEDARQGEQYMNTRCPAWCDRILMSPSAKELVLRSESEEKVVTYDH IGPNVCMGDHKPVFLAFRIMPGAGKPHAHVHKCCVVQ
|
Structural information |
|
Other Databases |
GeneCards: INPP5A  Malacards: INPP5A |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0046855 |
inositol phosphate dephos phorylation
|
IBA |
biological process |
GO:0048016 |
inositol phosphate-mediat ed signaling
|
IBA |
biological process |
GO:0004445 |
inositol-polyphosphate 5- phosphatase activity
|
IBA |
molecular function |
GO:0004445 |
inositol-polyphosphate 5- phosphatase activity
|
IEA |
molecular function |
GO:0046856 |
phosphatidylinositol deph osphorylation
|
IEA |
biological process |
GO:0016787 |
hydrolase activity
|
IEA |
molecular function |
GO:0005886 |
plasma membrane
|
IEA |
cellular component |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0052659 |
inositol-1,3,4,5-tetrakis phosphate 5-phosphatase a ctivity
|
IEA |
molecular function |
GO:0004445 |
inositol-polyphosphate 5- phosphatase activity
|
IEA |
molecular function |
GO:0052658 |
inositol-1,4,5-trisphosph ate 5-phosphatase activit y
|
IEA |
molecular function |
GO:0046855 |
inositol phosphate dephos phorylation
|
IDA |
biological process |
GO:0016020 |
membrane
|
IDA |
cellular component |
GO:0004445 |
inositol-polyphosphate 5- phosphatase activity
|
IDA |
molecular function |
GO:0005886 |
plasma membrane
|
TAS |
cellular component |
GO:0043647 |
inositol phosphate metabo lic process
|
TAS |
biological process |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0042731 |
PH domain binding
|
IPI |
molecular function |
GO:0005886 |
plasma membrane
|
IEA |
cellular component |
GO:0016020 |
membrane
|
NAS |
cellular component |
GO:0004445 |
inositol-polyphosphate 5- phosphatase activity
|
NAS |
molecular function |
|
|
Pathway id | Pathway name |
hsa01100 | Metabolic pathways | hsa04910 | Insulin signaling pathway | hsa04070 | Phosphatidylinositol signaling system | hsa00562 | Inositol phosphate metabolism | |
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Male infertility | MIK: 26361204 |
Embryo quality | MIK: 26361204 |
Spermatogenic defects | MIK: 31037746 |
Teratozoospermia | MIK: 17327269 |
Unexplained infertility | MIK: 25753583 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 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 |
31037746 |
Spermatoge nic defect s
|
|
|
28 men with az oospermia
|
Male infertility |
Microarray
|
Show abstract |
25753583 |
Unexplaine d infertil ity
|
|
|
46 (17 fertile men, 29 male pa tients)
|
Male infertility |
Microarray
|
Show abstract |
26361204 |
Male infer tility, Em bryo quali ty
|
|
|
181 (127 men un dergoing IVF tr eatment, 54 nor mozoospermic, f ertile men)
|
Male infertility |
Microarray
|
Show abstract |
|