Nomenclature
Short Name:
PIP5K
Full Name:
1-phosphatidylinositol-3-phosphate 5-kinase
Alias:
- 1- phosphatidylinositol-4-phosphate 5-kinase
- Kiaa0981
- MGC40423
- P235
- Phosphoinositide kinase, FYVE finger containing; PIKfyve; PIP5K3; PtdIns(4)P-5- kinase; PtdIns(4)P-5-kinase
- EC 2.7.1.68
- FYV1
- FYVE finger-containing phosphoinositide kinase
- FYVE finger-containing PI kinase
- KIAA0981
Classification
Type:
Protein-serine/threonine kinase
Group:
Atypical
Family:
SubFamily:
NA
Specific Links
| Kinexus Products: | PIP5K |
Structure
Mol. Mass (Da):
237108
# Amino Acids:
2098
# mRNA Isoforms:
4
mRNA Isoforms:
237,136 Da (2098 AA; Q9Y2I7); 61,595 Da (548 AA; Q9Y2I7-4); 51,476 Da (462 AA; Q9Y2I7-3); 50,211 Da (451 AA; Q9Y2I7-2)
4D Structure:
1D Structure:
Subfamily Alignment
Domain Distribution:
| Start | End | Domain |
|---|
Kinexus Products
Click on entries below for direct links to relevant products from Kinexus for this protein kinase.
hiddentext
Post-translation Modifications
For detailed information on phosphorylation of this kinase go to PhosphoNET
Acetylated:
K669, K675.
Serine phosphorylated:
S20, S23, S44, S48, S76, S88, S104, S105, S261, S274, S291, S299, S305, S307, S312, S316, S318+, S327, S329, S352, S366, S367, S449, S452, S454, S457, S475, S491, S493, S845, S888, S1111, S1124, S1167, S1177, S1301, S1440, S1474, S1475, S1489, S1496, S1522, S1526, S1544, S1549, S1712, S1714, S1754, S1770, S2068.
Threonine phosphorylated:
T3, T7, T22, T34, T83, T90, T109, T133, T173, T309, T326, T335, T339, T341, T342, T477, T583, T822, T1312, T1436, T1479, T1764, T2026.
Tyrosine phosphorylated:
Y46, Y92, Y154, Y324, Y1155, Y1350, Y1772, Y1773, Y2037.
Ubiquitinated:
K1414.
Distribution
Based on gene microarray analysis from the NCBI
Human Tissue Distribution
% Max Expression:
Mean Expression:
Number of Samples:
Standard Deviation:
% Max Expression:
Mean Expression:
Number of Samples:
Standard Deviation:
61
1258
28
1112
3
55
12
41
3
62
1
0
16
340
104
908
37
765
28
618
2
45
55
38
9
192
39
441
60
1236
31
2708
26
544
10
536
4
88
53
68
3
53
20
74
32
670
115
628
5
112
12
24
3
65
9
54
6
114
19
193
3
53
18
51
6
124
386
1047
1
20
7
18
4
88
43
55
30
615
102
546
5
100
18
159
7
143
20
252
5
104
2
2
5
98
8
82
8
164
18
345
41
856
64
880
6
121
15
63
2
37
8
24
3
60
8
42
0.4
9
14
7
27
550
30
148
100
2067
31
3327
9
190
80
336
42
875
78
722
16
321
57
396
Evolution
Species Conservation
PhosphoNET % Identity:
PhosphoNET % Similarity:
Homologene %
Identity:
PhosphoNET % Identity:
PhosphoNET % Similarity:
Homologene %
Identity:
100
100
100
99.8
99.9
100
99.1
99.4
99
-
-
95
-
-
-
95.2
97
95
-
-
-
93.5
96.3
88
-
-
93
-
-
-
53.9
60.2
-
86.2
91.5
87
-
-
-
-
-
75
-
-
-
28.7
46.1
41
34.1
53.5
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
21.9
40.6
-
-
-
-
For a wider analysis go to PhosphoNET Evolution in PhosphoNET
Regulation
Activation:
NA
Inhibition:
NA
Synthesis:
NA
Degradation:
NA
Disease Linkage
General Disease Association:
Eye disorder
Specific Diseases (Non-cancerous):
Corneal Fleck dystrophy (FCD, CFD)
Comments:
Corneal Fleck Dystrophy (FCD, CFD) affects the eye and is characterized by flecks of opaque materials in the eye's stroma. CFD is normally asymptomatic, though some individuals may suffer photophobia. A mutation observed in CFD, compared to wild-type PIP5K is K1103R.
Gene Expression in Cancers:
TranscriptoNET (www.transcriptonet.ca) analysis with mRNA expression data retrieved from the National Center for Biotechnology Information's Gene Expression Omnibus (GEO) database, which was normalized against 60 abundantly and commonly found proteins, indicated altered expression for this protein kinase as shown here as the percent change from normal tissue controls (%CFC) as supported with the Student T-test in the following types of human cancers: Bladder carcinomas (%CFC= +132, p<0.002); Oral squamous cell carcinomas (OSCC) (%CFC= +51, p<0.053); Prostate cancer - metastatic (%CFC= +61, p<0.0001); Prostate cancer - primary (%CFC= -45, p<0.0001); and T-cell prolymphocytic leukemia (%CFC= -46, p<0.001). The COSMIC website notes an up-regulated expression score for PIP5K in diverse human cancers of 293, which is 0.6-fold of the average score of 462 for the human protein kinases. The down-regulated expression score of 90 for this protein kinase in human cancers was 1.5-fold of the average score of 60 for the human protein kinases.
Mutagenesis Experiments:
Insertional mutagenesis studies in mice have not yet revealed a role for this protein kinase in mouse cancer oncogenesis.
Mutation Rate in All Cancers:
Percent mutation rates per 100 amino acids length in human cancers: 0.07 % in 25052 diverse cancer specimens. This rate is only -13 % lower than the average rate of 0.075 % calculated for human protein kinases in general.
Mutation Rate in Specific Cancers:
Highest percent mutation rates per 100 amino acids length in human cancers: 0.26 % in 603 endometrium cancers tested; 0.24 % in 864 skin cancers tested; 0.14 % in 1609 lung cancers tested; 0.14 % in 1240 large intestine cancers tested; 0.12 % in 589 stomach cancers tested; 0.09 % in 273 cervix cancers tested; 0.09 % in 1512 liver cancers tested; 0.08 % in 548 urinary tract cancers tested; 0.08 % in 238 bone cancers tested; 0.08 % in 127 biliary tract cancers tested; 0.06 % in 807 ovary cancers tested; 0.05 % in 710 oesophagus cancers tested; 0.05 % in 1300 breast cancers tested; 0.04 % in 942 upper aerodigestive tract cancers tested; 0.03 % in 881 prostate cancers tested; 0.03 % in 441 autonomic ganglia cancers tested; 0.03 % in 1742 kidney cancers tested; 0.03 % in 1459 pancreas cancers tested; 0.02 % in 2074 central nervous system cancers tested; 0.01 % in 558 thyroid cancers tested; 0.01 % in 382 soft tissue cancers tested; 0.01 % in 2009 haematopoietic and lymphoid cancers tested.
Frequency of Mutated Sites:
Most frequent mutations with the number of reports indicated in brackets: R54C (5); R1984* (3).
Comments:
Only 5 deletions, no insertions or complex mutations are noted on the COSMIC website.