INPP4A
entrez
3631
canonical
uniprot
Q96PE3
canonical
ensembl
ENSG00000040933
resolver
ensp
ENSP00000386704
resolver
ensp
ENSP00000386777
resolver
ensp
ENSP00000387294
resolver
ensp
ENSP00000427722
resolver
ensp
ENSP00000520525
resolver
ensp
ENSP00000520526
resolver
ensp
ENSP00000520532
resolver
ensp
ENSP00000520533
resolver
ensp
ENSP00000520534
resolver
ensp
ENSP00000521915
resolver
ensp
ENSP00000521916
resolver
ensp
ENSP00000521917
resolver
ensp
ENSP00000521918
resolver
ensp
ENSP00000521919
resolver
ensp
ENSP00000590576
resolver
ensp
ENSP00000590577
resolver
ensp
ENSP00000590578
resolver
ensp
ENSP00000611183
resolver
ensp
ENSP00000611184
resolver
ensp
ENSP00000611187
resolver
ensp
ENSP00000611188
resolver
ensp
ENSP00000611189
resolver
ensp
ENSP00000649248
resolver
ensp
ENSP00000649249
resolver
ensp
ENSP00000678624
resolver
ensp
ENSP00000678625
resolver
ensp
ENSP00000678626
resolver
enst
ENST00000715853
resolver
enst
ENST00000715854
resolver
enst
ENST00000715897
resolver
enst
ENST00000715899
resolver
enst
ENST00000851856
resolver
enst
ENST00000920517
resolver
enst
ENST00000920518
resolver
enst
ENST00000941128
resolver
enst
ENST00000941129
resolver
enst
ENST00000941130
resolver
genesymbol
INPP4A
resolver
hgnc
HGNC:6074
resolver
uniprot
A0ABB0MUY6
resolver
uniprot
A0ABB0MUZ0
resolver
uniprot
A0ABB0MUZ2
resolver
uniprot
A0ABB0MUZ7
resolver
uniprot
O15326
resolver
uniprot
Q13187
resolver
uniprot
Q53TD8
resolver
uniprot
Q8TC02
resolver
uniprot_entry
A0ABB0MUY6_HUMAN
resolver
uniprot_entry
A0ABB0MUZ0_HUMAN
resolver
uniprot_entry
A0ABB0MUZ2_HUMAN
resolver
uniprot_entry
A0ABB0MUZ7_HUMAN
resolver
uniprot_entry
INP4A_HUMAN
resolver
uniprot_sec
O15326
resolver
uniprot_sec
Q13187
resolver
uniprot_sec
Q53TD8
resolver
uniprot_sec
Q8TC02
resolver
amino_acid_sequence
MTAREHSPRHGARARAMQRASTIDVAADMLGLSLAGNIQDPDEPILEFSLACSELHTPSLDRKPNSFVAVSVTTPPQAFWTKHAQTEIIEGTNNPIFLSSIAFFQDSLINQMTQVKLSVYDVKDRSQGTMYLLGSGTFIVKDLLQDRHHRLHLTLRSAESDRVGNITVIGWQMEEKSDQRPPVTRSVDTVNGRMVLPVDESLTEALGIRSKYASLRKDTLLKSVFGGAICRMYRFPTTDGNHLRILEQMAESVLSLHVPRQFVKLLLEEDAARVCELEELGELSPCWESLRRQIVTQYQTIILTYQENLTDLHQYRGPSFKASSLKADKKLEFVPTNLHIQRMRVQDDGGSDQNYDIVTIGAPAAHCQGFKSGGLRKKLHKFEETKKHFEECCTSSGCQSIIYIPQDVVRAKEIIAQINTLKTQVSYYAERLSRAAKDRSATGLERTLAILADKTRQLVTVCDCKLLANSIHGLNAARPDYIASKASPTSTEEEQVMLRNDQDTLMARWTGRNSRSSLQVDWHEEEWEKVWLNVDKSLECIIQRVDKLLQKERLHGEGCEDVFPCAGSCTSKKGNPDSHAYWIRPEDPFCDVPSSPCPSTMPSTACHPHLTTHCSPPPEESSPGEWSEALYPLLTTLTDCVAMMSDKAKKAMVFLLMQDSAPTIATYLSLQYRRDVVFCQTLTALICGFIIKLRNCLHDDGFLRQLYTIGLLAQFESLLSTYGEELAMLEDMSLGIMDLRNVTFKVTQATSSASADMLPVITGNRDGFNVRVPLPGPLFDALPREIQSGMLLRVQPVLFNVGINEQQTLAERFGDTSLQEVINVESLVRLNSYFEQFKEVLPEDCLPRSRSQTCLPELLRFLGQNVHARKNKNVDILWQAAEICRRLNGVRFTSCKSAKDRTAMSVTLEQCLILQHEHGMAPQVFTQALECMRSEGCRRENTMKNVGSRKYAFNSLQLKAFPKHYRPPEGTYGKVET
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech (NEDGQS) [MIM:621354]: An autosomal recessive disorder characterized by global developmental delay, moderate to profound intellectual disability, poor or absent speech, cerebellar signs, limbs weakness, microcephaly, and poor overall growth. A more severe disease presentation has additional features of cerebellar hypoplasia, reduced cerebral volume, peripheral spasticity, contractures, intractable seizures, and cortical visual impairment. {ECO:0000269|PubMed:28133863, ECO:0000269|PubMed:31978615, ECO:0000269|PubMed:36653678, ECO:0000269|PubMed:36759255, ECO:0000269|PubMed:39315527}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.66
uniprot
proteins
function
FUNCTION: Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:15716355, PubMed:20463662). Also catalyzes inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate (By similarity). Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (By similarity) (PubMed:30071275). May protect neurons from excitotoxic cell death by regulating the synaptic localization of cell surface N-methyl-D-aspartate-type glutamate receptors (NMDARs) and NMDAR-mediated excitatory postsynaptic current (By similarity). {ECO:0000250|UniProtKB:Q62784, ECO:0000250|UniProtKB:Q9EPW0, ECO:0000269|PubMed:15716355, ECO:0000269|PubMed:20463662, ECO:0000269|PubMed:30071275}.; FUNCTION: [Isoform 4]: Displays no 4-phosphatase activity for PtdIns(3,4)P2, Ins(3,4)P2, or Ins(1,3,4)P3. {ECO:0000269|PubMed:9295334}.
uniprot
proteins
mass_dalton
109956
uniprot
proteins
mutagenesis
MUTAGEN 731; /note="D->N: Complete loss of lipid phosphatase activity."; /evidence="ECO:0000269|PubMed:15716355"; MUTAGEN 895; /note="C->S: Does not rescue the wortmannin-induced dilation of endosomes due to accumulation of (PtdIns(3,4)P2)."; /evidence="ECO:0000269|PubMed:15716355
uniprot
proteins
pathway_participation
PATHWAY: Signal transduction; phosphatidylinositol signaling pathway. {ECO:0000269|PubMed:15716355, ECO:0000269|PubMed:20463662}.
uniprot
proteins
protein_family
4-bisphosphate 4-phosphatase family
uniprot
proteins
protein_family
Inositol 3
uniprot
proteins
pubmed
11485317
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
15716355
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20463662
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25869668
uniprot
proteins
pubmed
28133863
uniprot
proteins
pubmed
30071275
uniprot
proteins
pubmed
31978615
uniprot
proteins
pubmed
36653678
uniprot
proteins
pubmed
36759255
uniprot
proteins
pubmed
39315527
uniprot
proteins
pubmed
7608176
uniprot
proteins
pubmed
9295334
uniprot
proteins
sequence_length
977
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:15716355}. Recycling endosome membrane {ECO:0000269|PubMed:15716355}. Cell membrane {ECO:0000269|PubMed:15716355}. Nucleus {ECO:0000269|PubMed:30071275}. Cytoplasm {ECO:0000269|PubMed:30071275}. Postsynaptic density {ECO:0000250|UniProtKB:Q9EPW0}. Note=Translocates to the plasma membrane upon EGF stimulation (PubMed:15716355). Shuttles between the cytoplasm and the nucleus, depending on the cell cycle stage, with highest amounts detected in the nucleus during the G0/G1phase (PubMed:30071275). {ECO:0000269|PubMed:15716355, ECO:0000269|PubMed:30071275}.
uniprot
proteins