PPIP5K2
entrez
23262
canonical
uniprot
O43314
canonical
ensembl
ENSG00000145725
resolver
ensp
ENSP00000313070
resolver
ensp
ENSP00000351126
resolver
ensp
ENSP00000482907
resolver
ensp
ENSP00000486357
resolver
ensp
ENSP00000513912
resolver
ensp
ENSP00000551548
resolver
ensp
ENSP00000551549
resolver
ensp
ENSP00000551550
resolver
ensp
ENSP00000551551
resolver
ensp
ENSP00000551552
resolver
ensp
ENSP00000551553
resolver
ensp
ENSP00000551554
resolver
ensp
ENSP00000551555
resolver
ensp
ENSP00000551557
resolver
ensp
ENSP00000551558
resolver
ensp
ENSP00000597989
resolver
ensp
ENSP00000630577
resolver
ensp
ENSP00000630578
resolver
enst
ENST00000613674
resolver
enst
ENST00000627916
resolver
enst
ENST00000698750
resolver
genesymbol
PPIP5K2
resolver
genesymbol_syn
HISPPD1
resolver
genesymbol_syn
KIAA0433
resolver
genesymbol_syn
VIP2
resolver
hgnc
HGNC:29035
resolver
uniprot
A0A087WZV0
resolver
uniprot
A0A8V8TMN4
resolver
uniprot
A1NI53
resolver
uniprot
A6NGS8
resolver
uniprot
B4DGV1
resolver
uniprot
Q8TB50
resolver
uniprot_entry
A0A087WZV0_HUMAN
resolver
uniprot_entry
A0A8V8TMN4_HUMAN
resolver
uniprot_entry
B4DGV1_HUMAN
resolver
uniprot_entry
VIP2_HUMAN
resolver
uniprot_sec
A1NI53
resolver
uniprot_sec
A6NGS8
resolver
uniprot_sec
Q8TB50
resolver
amino_acid_sequence
MSEAPRFFVGPEDTEINPGNYRHFFHHADEDDEEEDDSPPERQIVVGICSMAKKSKSKPMKEILERISLFKYITVVVFEEEVILNEPVENWPLCDCLISFHSKGFPLDKAVAYAKLRNPFVINDLNMQYLIQDRREVYSILQAEGILLPRYAILNRDPNNPKECNLIEGEDHVEVNGEVFQKPFVEKPVSAEDHNVYIYYPTSAGGGSQRLFRKIGSRSSVYSPESNVRKTGSYIYEEFMPTDGTDVKVYTVGPDYAHAEARKSPALDGKVERDSEGKEVRYPVILNAREKLIAWKVCLAFKQTVCGFDLLRANGQSYVCDVNGFSFVKNSMKYYDDCAKILGNIVMRELAPQFHIPWSIPLEAEDIPIVPTTSGTMMELRCVIAVIRHGDRTPKQKMKMEVRHQKFFDLFEKCDGYKSGKLKLKKPKQLQEVLDIARQLLMELGQNNDSEIEENKPKLEQLKTVLEMYGHFSGINRKVQLTYLPHGCPKTSSEEEDSRREEPSLLLVLKWGGELTPAGRVQAEELGRAFRCMYPGGQGDYAGFPGCGLLRLHSTYRHDLKIYASDEGRVQMTAAAFAKGLLALEGELTPILVQMVKSANMNGLLDSDSDSLSSCQQRVKARLHEILQKDRDFTAEDYEKLTPSGSISLIKSMHLIKNPVKTCDKVYSLIQSLTSQIRHRMEDPKSSDIQLYHSETLELMLRRWSKLEKDFKTKNGRYDISKIPDIYDCIKYDVQHNGSLKLENTMELYRLSKALADIVIPQEYGITKAEKLEIAKGYCTPLVRKIRSDLQRTQDDDTVNKLHPVYSRGVLSPERHVRTRLYFTSESHVHSLLSILRYGALCNESKDEQWKRAMDYLNVVNELNYMTQIVIMLYEDPNKDLSSEERFHVELHFSPGAKGCEEDKNLPSGYGYRPASRENEGRRPFKIDNDDEPHTSKRDEVDRAVILFKPMVSEPIHIHRKSPLPRSRKTATNDEESPLSVSSPEGTGTWLHYTSGVGTGRRRRRSGEQITSSPVSPKSLAFTSSIFGSWQQVVSENANYLRTPRTLVEQKQNPTVGSHCAGLFSTSVLGGSSSAPNLQDYARTHRKKLTSSGCIDDATRGSAVKRFSISFARHPTNGFELYSMVPSICPLETLHNALSLKQVDEFLASIASPSSDVPRKTAEISSTALRSSPIMRKKVSLNTYTPAKILPTPPATLKSTKASSKPATSGPSSAVVPNTSSRKKNITSKTETHEHKKNTGKKK
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 100 (DFNB100) [MIM:618422]: A form of non-syndromic, sensorineural deafness characterized by prelingual hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:29590114}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.4.24
uniprot
proteins
function
FUNCTION: Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4 (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). Phosphorylates inositol hexakisphosphate (InsP6) at position 1 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4 (PubMed:17690096, PubMed:17702752). Alternatively, phosphorylates PP-InsP5 at position 1, produced by IP6Ks from InsP6, to produce (PP)2-InsP4 (PubMed:17690096, PubMed:17702752). Required for normal hearing (PubMed:29590114). {ECO:0000269|PubMed:17690096, ECO:0000269|PubMed:17702752, ECO:0000269|PubMed:21222653, ECO:0000269|PubMed:29590114}.
uniprot
proteins
mass_dalton
140407
uniprot
proteins
mutagenesis
MUTAGEN 213; /note="R->A,K: Reduces enzyme activity by about 99%."; /evidence="ECO:0000269|PubMed:22119861"; MUTAGEN 248; /note="K->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:22119861"; MUTAGEN 262; /note="R->A: Reduces enzyme activity by about 99%."; /evidence="ECO:0000269|PubMed:22119861
uniprot
proteins
protein_family
Histidine acid phosphatase family
uniprot
proteins
protein_family
VIP1 subfamily
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17690096
uniprot
proteins
pubmed
17702752
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21222653
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22119861
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
29590114
uniprot
proteins
pubmed
9455477
uniprot
proteins
sequence_length
1243
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:17690096}.
uniprot
proteins