PI4K2A
entrez
55361
canonical
uniprot
Q9BTU6
canonical
ensembl
ENSG00000155252
resolver
ensp
ENSP00000359665
resolver
enst
ENST00000370631
resolver
genesymbol
PI4K2A
resolver
hgnc
HGNC:30031
resolver
uniprot
D3DR59
resolver
uniprot
Q9NSG8
resolver
uniprot_entry
P4K2A_HUMAN
resolver
uniprot_sec
D3DR59
resolver
uniprot_sec
Q9NSG8
resolver
amino_acid_sequence
MDETSPLVSPERAQPPDYTFPSGSGAHFPQVPGGAVRVAAAAGSGPSPPGSPGHDRERQPLLDRARGAAAQGQTQTVAAQAQALAAQAAAAAHAAQAHRERNEFPEDPEFEAVVRQAELAIERCIFPERIYQGSSGSYFVKDPQGRIIAVFKPKNEEPYGHLNPKWTKWLQKLCCPCCFGRDCLVLNQGYLSEAGASLVDQKLELNIVPRTKVVYLASETFNYSAIDRVKSRGKRLALEKVPKVGQRFNRIGLPPKVGSFQLFVEGYKDADYWLRRFEAEPLPENTNRQLLLQFERLVVLDYIIRNTDRGNDNWLIKYDCPMDSSSSRDTDWVVVKEPVIKVAAIDNGLAFPLKHPDSWRAYPFYWAWLPQAKVPFSQEIKDLILPKISDPNFVKDLEEDLYELFKKDPGFDRGQFHKQIAVMRGQILNLTQALKDNKSPLHLVQMPPVIVETARSHQRSSSESYTQSFQSRKPFFSWW
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities (NEDMSB) [MIM:620732]: An autosomal recessive disorder characterized by failure to thrive, global developmental delay with intellectual disability and absent speech, seizures, hypotonia, inability to walk, orofacial dyskinesia, involuntary movements, and structural brain abnormalities. {ECO:0000269|PubMed:30564627, ECO:0000269|PubMed:35880319}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.67
uniprot
proteins
function
FUNCTION: Membrane-bound phosphatidylinositol-4 kinase (PI4-kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3). {ECO:0000269|PubMed:11279162, ECO:0000269|PubMed:16443754, ECO:0000269|PubMed:20388919, ECO:0000269|PubMed:23146885, ECO:0000269|PubMed:24675427, ECO:0000269|PubMed:25168678, ECO:0000305}.
uniprot
proteins
mass_dalton
54022
uniprot
proteins
mutagenesis
MUTAGEN 129; /note="R->E: Reduces enzyme activity, probably due to impaired membrane-association; when associated with E-275 and E-276."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 152; /note="K->A: Abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:24675427, ECO:0000269|PubMed:25168678"; MUTAGEN 157..159; /note="EPY->APA: Abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 163; /note="N->A: Reduces enzyme activity."; /evidence="ECO:0000269|PubMed:25168678"; MUTAGEN 165..172; /note="KWTKWLQK->AAAAAAAA: Abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:25168678"; MUTAGEN 165; /note="K->A: Abolishes enzyme activity; when associated with A-168 and A-172."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 166; /note="W->A: Reduces enzyme activity."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 168; /note="K->A: Abolishes enzyme activity; when associated with A-165 and A-172."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 172; /note="K->A: Abolishes enzyme activity; when associated with A-165 and A-168."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 174..178; /note="CCPCC->FFPFF: No effect on membrane-association."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 174..178; /note="CCPCC->SSPSS: Abolishes palmitoylation and impairs membrane-association."; /evidence="ECO:0000269|PubMed:22535966, ECO:0000269|PubMed:24675427"; MUTAGEN 184; /note="L->A: Abolishes enzyme activity; when associated with A-349."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 263; /note="F->A: Abolishes enzyme activity; when associated with A-345."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 269; /note="D->A: Reduces enzyme activity by half."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 275; /note="R->A: Reduces enzyme activity."; /evidence="ECO:0000269|PubMed:25168678"; MUTAGEN 275; /note="R->E: Reduces enzyme activity, probably due to impaired membrane-association; when associated with E-129 and E-276."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 276; /note="R->E: Reduces enzyme activity, probably due to impaired membrane-association; when associated with E-129 and E-275."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 308; /note="D->A: Abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:25168678"; MUTAGEN 345; /note="I->A: Abolishes enzyme activity; when associated with A-263."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 349; /note="L->A: Abolishes enzyme activity; when associated with A-184."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 359; /note="W->A: Strongly reduced enzyme activity, probably due to impaired membrane-association. Abolishes enzyme activity; when associated with A-365 and A-368."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 365; /note="Y->A: Reduces enzyme activity, probably due to impaired membrane-association. Abolishes enzyme activity; when associated with A-368 and A-359."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 368; /note="W->A: Reduces enzyme activity, probably due to impaired membrane-association. Abolishes enzyme activity; when associated with A-359 and A-365."; /evidence="ECO:0000269|PubMed:24675427"; MUTAGEN 445; /note="Q->A: Reduces enzyme activity."; /evidence="ECO:0000269|PubMed:25168678
uniprot
proteins
post_translational_modification
PTM: Palmitoylated by ZDHHC3 and ZDHHC7 in the CCPCC motif. Palmitoylation is cholesterol-dependent, and required for TGN localization. {ECO:0000269|PubMed:22535966}.; PTM: Ubiquitinated by ITCH; this does not lead to proteasomal degradation. {ECO:0000269|PubMed:23146885}.
uniprot
proteins
protein_family
PI3/PI4-kinase family
uniprot
proteins
protein_family
Type II PI4K subfamily
uniprot
proteins
pubmed
11279162
uniprot
proteins
pubmed
12324459
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16443754
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20388919
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21998198
uniprot
proteins
pubmed
22535966
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23146885
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24675427
uniprot
proteins
pubmed
25168678
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30564627
uniprot
proteins
pubmed
30917996
uniprot
proteins
pubmed
32418222
uniprot
proteins
pubmed
35880319
uniprot
proteins
sequence_length
479
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:12324459, ECO:0000269|PubMed:16443754, ECO:0000269|PubMed:22535966}; Lipid-anchor {ECO:0000269|PubMed:22535966}. Membrane raft {ECO:0000269|PubMed:11279162}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q2TBE6}. Presynaptic cell membrane {ECO:0000250|UniProtKB:Q2TBE6}. Synapse, synaptosome {ECO:0000250|UniProtKB:Q2TBE6}. Mitochondrion {ECO:0000250|UniProtKB:Q2TBE6}. Endosome {ECO:0000269|PubMed:16443754, ECO:0000269|PubMed:23146885}. Endosome membrane {ECO:0000269|PubMed:35880319}. Cytoplasmic vesicle {ECO:0000269|PubMed:16443754}. Membrane {ECO:0000269|PubMed:24675427}; Lipid-anchor {ECO:0000269|PubMed:24675427}. Cell membrane {ECO:0000269|PubMed:11279162, ECO:0000269|PubMed:16443754}. Perikaryon {ECO:0000250|UniProtKB:Q2TBE6}. Cell projection, neuron projection {ECO:0000250|UniProtKB:Q2TBE6}. Note=Found in subdomains of the plasma membrane termed non-caveolar membrane rafts. Transported from neuronal cell body to neuron projections and neurite tips in a BLOC-1- and AP-3-complexes-dependent manner. {ECO:0000250|UniProtKB:Q2TBE6}.
uniprot
proteins