INPP5K
entrez
51763
canonical
uniprot
Q9BT40
canonical
ensembl
ENSG00000132376
resolver
ensp
ENSP00000318476
resolver
ensp
ENSP00000385177
resolver
ensp
ENSP00000413937
resolver
genesymbol
INPP5K
resolver
genesymbol_syn
PPS
resolver
genesymbol_syn
SKIP
resolver
hgnc
HGNC:33882
resolver
uniprot
B2R6I2
resolver
uniprot
B2R750
resolver
uniprot
B7Z4V9
resolver
uniprot
D3DTH8
resolver
uniprot
Q15733
resolver
uniprot
Q9NPJ5
resolver
uniprot
Q9P2R5
resolver
uniprot_entry
B7Z4V9_HUMAN
resolver
uniprot_entry
INP5K_HUMAN
resolver
uniprot_sec
B2R6I2
resolver
uniprot_sec
B2R750
resolver
uniprot_sec
D3DTH8
resolver
uniprot_sec
Q15733
resolver
uniprot_sec
Q9NPJ5
resolver
uniprot_sec
Q9P2R5
resolver
amino_acid_sequence
MSSRKLSGPKGRRLSIHVVTWNVASAAPPLDLSDLLQLNNRNLNLDIYVIGLQELNSGIISLLSDAAFNDSWSSFLMDVLSPLSFIKVSHVRMQGILLLVFAKYQHLPYIQILSTKSTPTGLFGYWGNKGGVNICLKLYGYYVSIINCHLPPHISNNYQRLEHFDRILEMQNCEGRDIPNILDHDLIIWFGDMNFRIEDFGLHFVRESIKNRCYGGLWEKDQLSIAKKHDPLLREFQEGRLLFPPTYKFDRNSNDYDTSEKKRKPAWTDRILWRLKRQPCAGPDTPIPPASHFSLSLRGYSSHMTYGISDHKPVSGTFDLELKPLVSAPLIVLMPEDLWTVENDMMVSYSSTSDFPSSPWDWIGLYKVGLRDVNDYVSYAWVGDSKVSCSDNLNQVYIDISNIPTTEDEFLLCYYSNSLRSVVGISRPFQIPPGSLREDPLGEAQPQI
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, congenital, with cataracts and impaired intellectual development (MDCCAID) [MIM:617404]: An autosomal recessive form of muscular dystrophy with onset in early childhood and characterized by progressive muscle weakness. Almost all patients also have early-onset cataracts and intellectual disability of varying severity. Some patients have seizures. {ECO:0000269|PubMed:28190456, ECO:0000269|PubMed:28190459}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.36
uniprot
proteins
ec_number
3.1.3.56
uniprot
proteins
ec_number
3.1.3.86
uniprot
proteins
function
FUNCTION: Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (PubMed:10753883, PubMed:16824732). Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5-trisphosphate (PubMed:10753883). Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (By similarity). {ECO:0000250|UniProtKB:Q8C5L6, ECO:0000269|PubMed:10753883, ECO:0000269|PubMed:16824732, ECO:0000269|PubMed:28190456, ECO:0000269|PubMed:28190459}.
uniprot
proteins
mass_dalton
51090
uniprot
proteins
mutagenesis
MUTAGEN 310; /note="D->G: No phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity."; /evidence="ECO:0000269|PubMed:28190456, ECO:0000269|PubMed:28190459"; MUTAGEN 349; /note="Y->A,F: No effect on EGF-induced ruffle localization."; /evidence="ECO:0000269|PubMed:12536145"; MUTAGEN 361; /note="D->A: Significant decrease in EGF-induced ruffle localization."; /evidence="ECO:0000269|PubMed:12536145"; MUTAGEN 362; /note="W->A: Significant decrease in EGF-induced ruffle localization."; /evidence="ECO:0000269|PubMed:12536145"; MUTAGEN 376; /note="Y->A,F: No effect on EGF-induced ruffle localization."; /evidence="ECO:0000269|PubMed:12536145
uniprot
proteins
protein_family
4
uniprot
proteins
protein_family
5-trisphosphate 5-phosphatase type II family
uniprot
proteins
protein_family
Inositol 1
uniprot
proteins
pubmed
10753883
uniprot
proteins
pubmed
12536145
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16824732
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
26940976
uniprot
proteins
pubmed
28190456
uniprot
proteins
pubmed
28190459
uniprot
proteins
sequence_length
448
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:12536145, ECO:0000269|PubMed:26940976, ECO:0000269|PubMed:28190456}. Cytoplasm {ECO:0000269|PubMed:10753883}. Note=Following stimulation with EGF, translocates to membrane ruffles (PubMed:12536145, PubMed:26940976). Concentrated at the periphery of the nucleus (PubMed:10753883). {ECO:0000269|PubMed:10753883, ECO:0000269|PubMed:12536145, ECO:0000269|PubMed:26940976}.
uniprot
proteins