• Gene id: 9677

Gene Summary

• Gene Symbol: PPIP5K1   Gene   UCSC   Ensembl
• Aliases: HISPPD2A, IP6K, IPS1, VIP1, hsVIP1
• Gene name: diphosphoinositol pentakisphosphate kinase 1
• Alternate names: inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1, IP6 kinase, VIP1 homolog, histidine acid phosphatase domain containing 2A, histidine acid phosphatase domain-containing protein 2A, inositol pyrophosphate synthase 1, insP6 and PP,
• Gene location: 15q15.3 (43590271: 43533461)     Exons: 34     NC_000015.10
• Gene summary(Entrez): This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be impor
• OMIM: 610979

Protein Summary

• Protein general information: Q6PFW1  
  • Name: Inositol hexakisphosphate and diphosphoinositol pentakisphosphate kinase 1 (EC 2.7.4.21) (EC 2.7.4.24) (Diphosphoinositol pentakisphosphate kinase 1) (Histidine acid phosphatase domain containing protein 2A) (IP6 kinase) (Inositol pyrophosphate synthase 1
  • Length: 1433  
  • Mass: 159,521
• Sequence:

  MWSLTASEGESTTAHFFLGAGDEGLGTRGIGMRPEESDSELLEDEEDEVPPEPQIIVGICAMTKKSKSKPMTQIL
  ERLCRFDYLTVVILGEDVILNEPVENWPSCHCLISFHSKGFPLDKAVAYSKLRNPFLINDLAMQYYIQDRREVYR
  ILQEEGIDLPRYAVLNRDPARPEECNLIEGEDQVEVNGAVFPKPFVEKPVSAEDHNVYIYYPSSAGGGSQRLFRK
  IGSRSSVYSPESSVRKTGSYIYEEFMPTDGTDVKVYTVGPDYAHAEARKSPALDGKVERDSEGKEIRYPVMLTAM
  EKLVARKVCVAFKQTVCGFDLLRANGHSFVCDVNGFSFVKNSMKYYDDCAKILGNTIMRELAPQFQIPWSIPTEA
  EDIPIVPTTSGTMMELRCVIAIIRHGDRTPKQKMKMEVKHPRFFALFEKHGGYKTGKLKLKRPEQLQEVLDITRL
  LLAELEKEPGGEIEEKTGKLEQLKSVLEMYGHFSGINRKVQLTYYPHGVKASNEGQDPQRETLAPSLLLVLKWGG
  ELTPAGRVQAEELGRAFRCMYPGGQGDYAGFPGCGLLRLHSTFRHDLKIYASDEGRVQMTAAAFAKGLLALEGEL
  TPILVQMVKSANMNGLLDSDGDSLSSCQHRVKARLHHILQQDAPFGPEDYDQLAPTRSTSLLNSMTIIQNPVKVC
  DQVFALIENLTHQIRERMQDPRSVDLQLYHSETLELMLQRWSKLERDFRQKSGRYDISKIPDIYDCVKYDVQHNG
  SLGLQGTAELLRLSKALADVVIPQEYGISREEKLEIAVGFCLPLLRKILLDLQRTHEDESVNKLHPLCYLRYSRG
  VLSPGRHVRTRLYFTSESHVHSLLSVFRYGGLLDETQDAQWQRALDYLSAISELNYMTQIVIMLYEDNTQDPLSE
  ERFHVELHFSPGVKGVEEEGSAPAGCGFRPASSENEEMKTNQGSMENLCPGKASDEPDRALQTSPQPPEGPGLPR
  RSPLIRNRKAGSMEVLSETSSSRPGGYRLFSSSRPPTEMKQSGLGSQCTGLFSTTVLGGSSSAPNLQDYARSHGK
  KLPPASLKHRDELLFVPAVKRFSVSFAKHPTNGFEGCSMVPTIYPLETLHNALSLRQVSEFLSRVCQRHTDAQAQ
  ASAALFDSMHSSQASDNPFSPPRTLHSPPLQLQQRSEKPPWYSSGPSSTVSSAGPSSPTTVDGNSQFGFSDQPSL
  NSHVAEEHQGLGLLQETPGSGAQELSIEGEQELFEPNQSPQVPPMETSQPYEEVSQPCQEVPDISQPCQDISEAL
  SQPCQKVPDISQQCQENHDNGNHTCQEVPHISQPCQKSSQLCQKVSEEVCQLCLENSEEVSQPCQGVSVEVGKLV
  HKFHVGVGSLVQETLVEVGSPAEEIPEEVIQPYQEFSVEVGRLAQETSAINLLSQGIPEIDKPSQEFPEEIDLQA
  QEVPEEIN

• Structural information:
  • Interpro: IPR033379  IPR000560  IPR037446  IPR029033  
  • Prosite: PS00616
  • CDD: cd07061
  • STRING: ENSP00000380129
• Other Databases: GeneCards:  PPIP5K1  Malacards:  PPIP5K1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000827	inositol-1,3,4,5,6-pentakisphosphate kinase activity	IDA	molecular function
GO:0000828	inositol hexakisphosphate kinase activity	IDA	molecular function
GO:0000828	inositol hexakisphosphate kinase activity	TAS	molecular function
GO:0000829	inositol heptakisphosphate kinase activity	TAS	molecular function
GO:0000832	inositol hexakisphosphate 5-kinase activity	IDA	molecular function
GO:0003993	acid phosphatase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006020	inositol metabolic process	IDA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0033857	diphosphoinositol-pentakisphosphate kinase activity	IDA	molecular function
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0052723	inositol hexakisphosphate 1-kinase activity	IEA	molecular function
GO:0052724	inositol hexakisphosphate 3-kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000827	inositol-1,3,4,5,6-pentakisphosphate kinase activity	IEA	molecular function
GO:0000827	inositol-1,3,4,5,6-pentakisphosphate kinase activity	IDA	molecular function
GO:0000828	inositol hexakisphosphate kinase activity	IDA	molecular function
GO:0000828	inositol hexakisphosphate kinase activity	TAS	molecular function
GO:0000829	inositol heptakisphosphate kinase activity	TAS	molecular function
GO:0000832	inositol hexakisphosphate 5-kinase activity	IEA	molecular function
GO:0000832	inositol hexakisphosphate 5-kinase activity	IEA	molecular function
GO:0000832	inositol hexakisphosphate 5-kinase activity	IDA	molecular function
GO:0003993	acid phosphatase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006020	inositol metabolic process	IEA	biological process
GO:0006020	inositol metabolic process	IDA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0033857	diphosphoinositol-pentakisphosphate kinase activity	IEA	molecular function
GO:0033857	diphosphoinositol-pentakisphosphate kinase activity	IEA	molecular function
GO:0033857	diphosphoinositol-pentakisphosphate kinase activity	IDA	molecular function
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0052723	inositol hexakisphosphate 1-kinase activity	IEA	molecular function
GO:0052724	inositol hexakisphosphate 3-kinase activity	IEA	molecular function
GO:0000827	inositol-1,3,4,5,6-pentakisphosphate kinase activity	IDA	molecular function
GO:0000828	inositol hexakisphosphate kinase activity	IDA	molecular function
GO:0000828	inositol hexakisphosphate kinase activity	TAS	molecular function
GO:0000829	inositol heptakisphosphate kinase activity	TAS	molecular function
GO:0000832	inositol hexakisphosphate 5-kinase activity	IDA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006020	inositol metabolic process	IDA	biological process
GO:0033857	diphosphoinositol-pentakisphosphate kinase activity	IDA	molecular function
GO:0043647	inositol phosphate metabolic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04070	Phosphatidylinositol signaling system

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 24690399
Male factor infertility	MIK: 24690399
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 24690399
Spermatogenic defects	MIK: 24690399

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24690399	Male infertility, severely impaired spermatogenesis	Deletion in the 15q15.3 region		2 brothers suffering from male infertility	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881