• Gene id: 64768

Gene Summary

• Gene Symbol: IPPK   Gene   UCSC   Ensembl
• Aliases: C9orf12, INSP5K2, IP5K, IPK1, bA476B13.1
• Gene name: inositol-pentakisphosphate 2-kinase
• Alternate names: inositol-pentakisphosphate 2-kinase, IPK1 homolog, bA476B13.1 (novel protein), inositol 1,3,4,5,6-pentakisphosphate 2-kinase, ins(1,3,4,5,6)P5 2-kinase, insP5 2-kinase,
• Gene location: 9q22.31 (92670258: 92613182)     Exons: 14     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis,
• OMIM: 611761

Protein Summary

• Protein general information: Q9H8X2  
  • Name: Inositol pentakisphosphate 2 kinase (EC 2.7.1.158) (IPK1 homolog) (Inositol 1,3,4,5,6 pentakisphosphate 2 kinase) (Ins(1,3,4,5,6)P5 2 kinase) (InsP5 2 kinase)
  • Length: 491  
  • Mass: 56017
  • Tissue specificity: Ubiquitously expressed, with high expression in heart, brain, testis and placenta. {ECO
• Sequence:

  MEEGKMDENEWGYHGEGNKSLVVAHAQRCVVLRFLKFPPNRKKTSEEIFQHLQNIVDFGKNVMKEFLGENYVHYG
  EVVQLPLEFVKQLCLKIQSERPESRCDKDLDTLSGYAMCLPNLTRLQTYRFAEHRPILCVEIKPKCGFIPFSSDV
  THEMKHKVCRYCMHQHLKVATGKWKQISKYCPLDLYSGNKQRMHFALKSLLQEAQNNLKIFKNGELIYGCKDARS
  PVADWSELAHHLKPFFFPSNGLASGPHCTRAVIRELVHVITRVLLSGSDKGRAGTLSPGLGPQGPRVCEASPFSR
  SLRCQGKNTPERSGLPKGCLLYKTLQVQMLDLLDIEGLYPLYNRVERYLEEFPEERKTLQIDGPYDEAFYQKLLD
  LSTEDDGTVAFALTKVQQYRVAMTAKDCSIMIALSPCLQDASSDQRPVVPSSRSRFAFSVSVLDLDLKPYESIPH
  QYKLDGKIVNYYSKTVRAKDNAVMSTRFKESEDCTLVLHKV

• Structural information:
  • Interpro: IPR009286  IPR043001  
  • STRING: ENSP00000287996
• Other Databases: GeneCards:  IPPK  Malacards:  IPPK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035299	inositol pentakisphosphate 2-kinase activity	IDA	molecular function
GO:0035299	inositol pentakisphosphate 2-kinase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0032958	inositol phosphate biosynthetic process	IBA	biological process
GO:0052746	inositol phosphorylation	IBA	biological process
GO:0035299	inositol pentakisphosphate 2-kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0035299	inositol pentakisphosphate 2-kinase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0035299	inositol pentakisphosphate 2-kinase activity	TAS	molecular function
GO:0035299	inositol pentakisphosphate 2-kinase activity	TAS	molecular function
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0052746	inositol phosphorylation	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005730	nucleolus	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1901838	positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0060090	molecular adaptor activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R