Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

VAC14_HUMAN

The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. [View more on UniProt]

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Position Amino acid Mutation Disease Overlap with binding region
424 Trp Leu Striatonigraldegeneration,childhood-onset(SNDC) -
582 Ala Ser Striatonigraldegeneration,childhood-onset(SNDC) -
583 Ser Leu Striatonigraldegeneration,childhood-onset(SNDC) -

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Molecular function

Term Name % Distance from the top of the tree Annotated in VAC14_HUMAN
GO:0046872 metal ion binding 31.8182 4 no
GO:0019900 kinase binding 22.7273 4 no
GO:0019901 protein kinase binding 20.4545 5 no

Biological process

Term Name % Distance from top the of the tree Annotated in VAC14_HUMAN
GO:0048522 positive regulation of cellular process 68.1818 4 yes
GO:0031323 regulation of cellular metabolic process 63.6364 4 yes
GO:0060255 regulation of macromolecule metabolic process 63.6364 4 no
GO:0051171 regulation of nitrogen compound metabolic process 56.8182 4 no
GO:0080090 regulation of primary metabolic process 56.8182 4 no
GO:0009893 positive regulation of metabolic process 54.5455 4 yes
GO:0048523 negative regulation of cellular process 54.5455 4 no
GO:0031325 positive regulation of cellular metabolic process 47.7273 5 yes
GO:0010604 positive regulation of macromolecule metabolic process 45.4545 5 no
GO:0051246 regulation of protein metabolic process 45.4545 5 no
GO:0009966 regulation of signal transduction 40.9091 4 no
GO:0010646 regulation of cell communication 40.9091 4 no
GO:0051049 regulation of transport 40.9091 4 no
GO:0019220 regulation of phosphate metabolic process 38.6364 6 yes
GO:0051174 regulation of phosphorus metabolic process 38.6364 5 yes
GO:0009892 negative regulation of metabolic process 38.6364 4 no
GO:0010468 regulation of gene expression 38.6364 5 no
GO:0042325 regulation of phosphorylation 36.3636 7 yes
GO:0043085 positive regulation of catalytic activity 36.3636 4 yes
GO:0010605 negative regulation of macromolecule metabolic process 36.3636 5 no
GO:0051128 regulation of cellular component organization 36.3636 4 no
GO:0051173 positive regulation of nitrogen compound metabolic process 36.3636 5 no
GO:0006996 organelle organization 36.3636 4 no
GO:0031399 regulation of protein modification process 34.0909 6 no
GO:0008104 protein localization 34.0909 4 no
GO:0010562 positive regulation of phosphorus metabolic process 31.8182 6 yes
GO:0042327 positive regulation of phosphorylation 31.8182 8 yes
GO:0045937 positive regulation of phosphate metabolic process 31.8182 7 yes
GO:0031324 negative regulation of cellular metabolic process 31.8182 5 no
GO:0051172 negative regulation of nitrogen compound metabolic process 31.8182 5 no
GO:0051247 positive regulation of protein metabolic process 31.8182 6 no
GO:0051338 regulation of transferase activity 29.5455 4 yes
GO:0001932 regulation of protein phosphorylation 29.5455 7 no
GO:0051726 regulation of cell cycle 29.5455 4 no
GO:1902531 regulation of intracellular signal transduction 29.5455 5 no
GO:0051336 regulation of hydrolase activity 29.5455 4 no
GO:0043549 regulation of kinase activity 27.2727 5 yes
GO:0009889 regulation of biosynthetic process 27.2727 4 no
GO:0010556 regulation of macromolecule biosynthetic process 27.2727 5 no
GO:0019219 regulation of nucleobase-containing compound metabolic process 27.2727 5 no
GO:0031326 regulation of cellular biosynthetic process 27.2727 5 no
GO:0048585 negative regulation of response to stimulus 27.2727 4 no
GO:0051252 regulation of RNA metabolic process 27.2727 5 no
GO:0060341 regulation of cellular localization 27.2727 4 no
GO:0051050 positive regulation of transport 27.2727 4 no
GO:0001934 positive regulation of protein phosphorylation 25.0000 8 no
GO:0031401 positive regulation of protein modification process 25.0000 7 no
GO:0030030 cell projection organization 25.0000 4 no
GO:0120036 plasma membrane bounded cell projection organization 25.0000 5 no
GO:0010941 regulation of cell death 25.0000 4 no
GO:0033674 positive regulation of kinase activity 22.7273 6 yes
GO:0051347 positive regulation of transferase activity 22.7273 5 yes
GO:0009968 negative regulation of signal transduction 22.7273 5 no
GO:0010648 negative regulation of cell communication 22.7273 5 no
GO:0023057 negative regulation of signaling 22.7273 4 no
GO:0045595 regulation of cell differentiation 22.7273 4 no
GO:0051248 negative regulation of protein metabolic process 22.7273 6 no
GO:1903506 regulation of nucleic acid-templated transcription 22.7273 7 no
GO:2001141 regulation of RNA biosynthetic process 22.7273 6 no
GO:0031175 neuron projection development 22.7273 6 no
GO:0031344 regulation of cell projection organization 22.7273 5 no
GO:0032880 regulation of protein localization 22.7273 5 no
GO:0071310 cellular response to organic substance 22.7273 4 no
GO:0043269 regulation of ion transport 22.7273 5 no
GO:0042981 regulation of apoptotic process 22.7273 6 no
GO:0043067 regulation of programmed cell death 22.7273 5 no
GO:0006355 regulation of DNA-templated transcription 20.4545 6 no
GO:0010038 response to metal ion 20.4545 4 no
GO:0010564 regulation of cell cycle process 20.4545 5 no
GO:0036211 protein modification process 20.4545 4 no
GO:0043412 macromolecule modification 20.4545 4 no
GO:0045859 regulation of protein kinase activity 20.4545 6 no
GO:0051241 negative regulation of multicellular organismal process 20.4545 4 no
GO:0022607 cellular component assembly 20.4545 4 no
GO:0051094 positive regulation of developmental process 20.4545 4 no
GO:0120035 regulation of plasma membrane bounded cell projection organization 20.4545 6 no
GO:0010942 positive regulation of cell death 20.4545 5 no
GO:0051345 positive regulation of hydrolase activity 20.4545 5 no
GO:0034762 regulation of transmembrane transport 20.4545 4 no
GO:0034765 regulation of ion transmembrane transport 20.4545 5 no
GO:0044057 regulation of system process 20.4545 4 no
GO:1904062 regulation of cation transmembrane transport 20.4545 6 no
GO:0072657 protein localization to membrane 20.4545 4 no
GO:0006796 phosphate-containing compound metabolic process 15.9091 4 yes
GO:0006644 phospholipid metabolic process 4.5455 4 yes
GO:0006650 glycerophospholipid metabolic process 4.5455 5 yes
GO:0006661 phosphatidylinositol biosynthetic process 4.5455 6 yes
GO:0008610 lipid biosynthetic process 4.5455 4 yes
GO:0008654 phospholipid biosynthetic process 4.5455 4 yes
GO:0045017 glycerolipid biosynthetic process 4.5455 4 yes
GO:0046474 glycerophospholipid biosynthetic process 4.5455 5 yes
GO:0046486 glycerolipid metabolic process 4.5455 4 yes
GO:0046488 phosphatidylinositol metabolic process 4.5455 6 yes
GO:0090407 organophosphate biosynthetic process 4.5455 4 yes

Disease

Term Name % Distance from top the of the tree Annotated in VAC14_HUMAN
DOID:0050700 cardiomyopathy 4.5455 4 no
DOID:0060036 intrinsic cardiomyopathy 4.5455 5 no
DOID:114 heart disease 4.5455 3 no
DOID:2843 long QT syndrome 4.5455 6 no
Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
A4_HUMAN [view entry] [view interactions] Low throughput yes yes
FIG4_HUMAN [view interactions] Low throughput no yes
FYV1_HUMAN [view interactions] Low throughput no no
NBEL2_HUMAN [view interactions] Low throughput no no
NOS1_HUMAN [view entry] [view interactions] Low throughput yes yes
LAMP1_HUMAN [view interactions] Low throughput no yes
EEA1_HUMAN [view entry] [view interactions] Low throughput yes yes
DLG4_HUMAN [view entry] [view interactions] Low throughput yes yes
TAU_HUMAN [view entry] [view interactions] Low throughput yes yes
MTAP2_HUMAN [view entry] [view interactions] Low throughput yes yes
VAC14_HUMAN [view entry] [view interactions] Low throughput yes yes
FND3B_HUMAN [view interactions] High throughput no no
MGT5B_HUMAN [view interactions] High throughput no no
AT1A3_HUMAN [view entry] [view interactions] High throughput yes no
PECA1_HUMAN [view interactions] High throughput no no
VIME_HUMAN [view entry] [view interactions] High throughput yes no
TYDP1_HUMAN [view interactions] High throughput no no
HD_HUMAN [view entry] [view interactions] High throughput yes yes
TRI55_HUMAN [view interactions] High throughput no no
MVP_HUMAN [view entry] [view interactions] High throughput yes yes
PCMD2_HUMAN [view interactions] High throughput no yes
PR20E_HUMAN [view interactions] High throughput no no
B2CL1_HUMAN [view interactions] High throughput no yes
GALT_HUMAN [view interactions] High throughput no yes
ZCPW1_HUMAN [view interactions] High throughput no no
HNRLL_HUMAN [view interactions] High throughput no yes
LASP1_HUMAN [view entry] [view interactions] High throughput yes yes
ABHDB_HUMAN [view interactions] High throughput no yes
MEOX2_HUMAN [view interactions] High throughput no no
TF3C2_HUMAN [view interactions] High throughput no no
KHDC1_HUMAN [view interactions] High throughput no no
GCST_HUMAN [view interactions] High throughput no yes
MET15_HUMAN [view interactions] High throughput no no
CS054_HUMAN [view interactions] High throughput no no
MBLC1_HUMAN [view interactions] High throughput no no
TRI63_HUMAN [view interactions] High throughput no no
NEUL4_HUMAN [view interactions] High throughput no yes
EGFR_HUMAN [view interactions] High throughput no no
BASI_HUMAN [view entry] [view interactions] High throughput yes no
PD1L1_HUMAN [view interactions] High throughput no no
PAR16_HUMAN [view interactions] High throughput no yes
GNAI2_HUMAN [view entry] [view interactions] High throughput yes yes
MICA_HUMAN [view interactions] High throughput no no
AR13B_HUMAN [view interactions] High throughput no yes
NTRK1_HUMAN [view interactions] High throughput no yes
PODO_HUMAN [view interactions] High throughput no no
CAF1A_HUMAN [view interactions] High throughput no yes
LNP_HUMAN [view interactions] High throughput no yes
ANK1_HUMAN [view entry] [view interactions] High throughput yes no
S26A6_HUMAN [view interactions] High throughput no yes
ERGI3_HUMAN [view interactions] High throughput no yes
MPZL1_HUMAN [view interactions] High throughput no yes
QKI_HUMAN [view interactions] High throughput no no
AT2B2_HUMAN [view entry] [view interactions] High throughput yes yes
AT2B4_HUMAN [view entry] [view interactions] High throughput yes yes
SLMAP_HUMAN [view entry] [view interactions] High throughput yes yes
EGLN3_HUMAN [view interactions] High throughput no no
PTC1_HUMAN [view entry] [view interactions] High throughput yes yes
ESR2_HUMAN [view interactions] High throughput no no
NHLC2_HUMAN [view interactions] High throughput no yes
APEX1_HUMAN [view interactions] High throughput no yes
LMBRL_HUMAN [view interactions] High throughput no no
PKHA4_HUMAN [view interactions] High throughput no yes
CUL4A_HUMAN [view interactions] High throughput no no
DDRGK_HUMAN [view entry] [view interactions] High throughput yes yes
NUD19_HUMAN [view interactions] High throughput no no
ARSL_HUMAN [view interactions] High throughput no no
TPST2_HUMAN [view interactions] High throughput no yes
CD80_HUMAN [view interactions] High throughput no no
PACC1_HUMAN [view interactions] High throughput no no
GPR17_HUMAN [view interactions] High throughput no no
DPH1_HUMAN [view interactions] High throughput no yes
F234A_HUMAN [view interactions] High throughput no yes
CABP2_HUMAN [view interactions] High throughput no no
NPTN_HUMAN [view entry] [view interactions] High throughput yes yes
TSN8_HUMAN [view interactions] High throughput no no
HCST_HUMAN [view interactions] High throughput no no
S27A2_HUMAN [view interactions] High throughput no no
PIGS_HUMAN [view interactions] High throughput no yes
BI1_HUMAN [view interactions] High throughput no yes
INAVA_HUMAN [view interactions] High throughput no yes
CMTD1_HUMAN [view entry] [view interactions] High throughput yes yes
MGST3_HUMAN [view entry] [view interactions] High throughput yes yes
MFD4A_HUMAN [view interactions] High throughput no yes
TMM43_HUMAN [view interactions] High throughput no no
CYH2_HUMAN [view entry] [view interactions] High throughput yes yes
OMA1_HUMAN [view interactions] High throughput no no
HS2ST_HUMAN [view interactions] High throughput no yes
EP300_HUMAN [view interactions] High throughput no yes
RHOQ_HUMAN [view interactions] High throughput no no
TOP2A_HUMAN [view interactions] High throughput no no
SRPK2_HUMAN [view entry] [view interactions] High throughput yes yes
LSM4_HUMAN [view interactions] High throughput no yes
KPB1_HUMAN [view interactions] High throughput no yes
VIP2_HUMAN [view interactions] High throughput no yes
VIP1_HUMAN [view interactions] High throughput no yes
PUR4_HUMAN [view interactions] High throughput no yes
LAMP2_HUMAN [view interactions] High throughput no yes
RAB9A_HUMAN [view interactions] High throughput no yes
TFR1_HUMAN [view interactions] High throughput no yes
IFM1_HUMAN [view interactions] High throughput no no
IFM3_HUMAN [view interactions] High throughput no yes
RAB7A_HUMAN [view entry] [view interactions] High throughput yes yes
MAVS_HUMAN [view interactions] High throughput no yes
MTCH2_HUMAN [view entry] [view interactions] High throughput yes yes
RAB21_HUMAN [view entry] [view interactions] High throughput yes yes
ERGI2_HUMAN [view interactions] High throughput no yes
VAMP3_HUMAN [view entry] [view interactions] High throughput yes no
PYRD_HUMAN [view interactions] High throughput no yes
CLCN7_HUMAN [view interactions] High throughput no yes
MAOX_HUMAN [view interactions] High throughput no yes
FACE1_HUMAN [view interactions] High throughput no yes
PRAF2_HUMAN [view entry] [view interactions] High throughput yes yes
AGTR1_HUMAN [view interactions] High throughput no no
XPO1_HUMAN [view entry] [view interactions] High throughput yes yes
CYLD_HUMAN [view entry] [view interactions] High throughput yes yes
STA5B_HUMAN [view interactions] High throughput no yes
SCRIB_HUMAN [view entry] [view interactions] High throughput yes no
CALM2_HUMAN [view entry] [view interactions] High throughput yes yes
CALM3_HUMAN [view entry] [view interactions] High throughput yes yes
CALM1_HUMAN [view entry] [view interactions] High throughput yes yes
IF4A2_HUMAN [view entry] [view interactions] High throughput yes yes
HSC20_HUMAN [view interactions] High throughput no yes
DOCK7_HUMAN [view entry] [view interactions] High throughput yes no
SC16A_HUMAN [view interactions] High throughput no yes
STING_HUMAN [view interactions] High throughput no yes
CRK_HUMAN [view entry] [view interactions] High throughput yes no
CDRT4_HUMAN [view interactions] High throughput no yes
BHE40_HUMAN [view interactions] High throughput no yes
SIGL5_HUMAN [view interactions] High throughput no no
PHF1_HUMAN [view interactions] High throughput no yes
RFOX2_HUMAN [view interactions] High throughput no yes
JMJD7_HUMAN [view interactions] High throughput no yes
CO8A1_HUMAN [view interactions] High throughput no no
CASP1_HUMAN [view interactions] High throughput no yes
PR20C_HUMAN [view interactions] High throughput no no
TP53B_HUMAN [view entry] [view interactions] High throughput yes yes
MPPD2_HUMAN [view interactions] High throughput no no
LPAL2_HUMAN [view interactions] High throughput no no
KAT1_HUMAN [view interactions] High throughput no yes
KR195_HUMAN [view interactions] High throughput no no
KR197_HUMAN [view interactions] High throughput no no
SMUG1_HUMAN [view interactions] High throughput no no
SPRY7_HUMAN [view interactions] High throughput no yes
AT2L2_HUMAN [view interactions] High throughput no yes
CC103_HUMAN [view interactions] High throughput no no
ZNF34_HUMAN [view interactions] High throughput no no
CF218_HUMAN [view interactions] High throughput no no
CD033_HUMAN [view interactions] High throughput no no
TEANC_HUMAN [view interactions] High throughput no no
ASB13_HUMAN [view interactions] High throughput no yes
PELI1_HUMAN [view interactions] High throughput no yes
SNF8_HUMAN [view interactions] High throughput no yes
NTAQ1_HUMAN [view interactions] High throughput no yes
MTMR9_HUMAN [view interactions] High throughput no no
RHXF2_HUMAN [view interactions] High throughput no no
PADC1_HUMAN [view interactions] High throughput no yes
CK054_HUMAN [view interactions] High throughput no no
CD209_HUMAN [view interactions] High throughput no no
NGB_HUMAN [view interactions] High throughput no yes
ACS2L_HUMAN [view interactions] High throughput no yes
PRR13_HUMAN [view interactions] High throughput no yes
PSF3_HUMAN [view interactions] High throughput no yes
KRA62_HUMAN [view interactions] High throughput no no
WDR83_HUMAN [view interactions] High throughput no yes
IF6_HUMAN [view interactions] High throughput no yes
PR20D_HUMAN [view interactions] High throughput no no
FA50B_HUMAN [view interactions] High throughput no yes
HNF1B_HUMAN [view interactions] High throughput no no
RNH2C_HUMAN [view interactions] High throughput no yes
ARI5A_HUMAN [view interactions] High throughput no yes
KRT82_HUMAN [view interactions] High throughput no no
GABP2_HUMAN [view interactions] High throughput no yes
KR193_HUMAN [view interactions] High throughput no no
PPP6_HUMAN [view interactions] High throughput no yes
OTOSP_HUMAN [view interactions] High throughput no no
GLIS2_HUMAN [view interactions] High throughput no no
UFSP1_HUMAN [view interactions] High throughput no yes
ACPM_HUMAN [view interactions] High throughput no yes
IF2A_HUMAN [view entry] [view interactions] High throughput yes yes
OIT3_HUMAN [view interactions] High throughput no no
C2CD6_HUMAN [view interactions] High throughput no no
ZBT49_HUMAN [view interactions] High throughput no yes
CRBA2_HUMAN [view interactions] High throughput no no
GBB1_HUMAN [view entry] [view interactions] High throughput yes yes
HDHD3_HUMAN [view interactions] High throughput no yes
PP2AA_HUMAN [view entry] [view interactions] High throughput yes yes
KS6R_HUMAN [view interactions] High throughput no no
KRA61_HUMAN [view interactions] High throughput no no
KR151_HUMAN [view interactions] High throughput no no
ECHP_HUMAN [view interactions] High throughput no no
RHBL1_HUMAN [view interactions] High throughput no no
EFMT3_HUMAN [view interactions] High throughput no no
KRBX5_HUMAN [view interactions] High throughput no no
PBLD_HUMAN [view interactions] High throughput no no
TCAB1_HUMAN [view interactions] High throughput no yes
VENTX_HUMAN [view interactions] High throughput no no
VHLL_HUMAN [view interactions] High throughput no no
INT11_HUMAN [view interactions] High throughput no yes
MYOZ1_HUMAN [view interactions] High throughput no no
RIPP1_HUMAN [view interactions] High throughput no no
TEX37_HUMAN [view interactions] High throughput no no
CRBA1_HUMAN [view interactions] High throughput no no
DDAH2_HUMAN [view interactions] High throughput no yes
MYOME_HUMAN [view interactions] High throughput no no
PK3C3_HUMAN [view interactions] Computational no yes
WIPI1_HUMAN [view interactions] Computational no yes
RAB28_HUMAN [view interactions] Computational no yes