• Gene id: 3635

Gene Summary

• Gene Symbol: INPP5D   Gene   UCSC   Ensembl
• Aliases: SHIP, SHIP-1, SHIP1, SIP-145, hp51CN, p150Ship
• Gene name: inositol polyphosphate-5-phosphatase D
• Alternate names: phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1, SH2 domain-containing inositol 5'-phosphatase 1, inositol polyphosphate-5-phosphatase, 145kD, inositol polyphosphate-5-phosphatase, 145kDa, phosphatidylinositol 4,5-bisphosphate 5-phosphatase, signaling,
• Gene location: 2q37.1 (233060341: 233207902)     Exons: 27     NC_000002.12
• Gene summary(Entrez): This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted
• OMIM: 176264

Protein Summary

• Protein general information: Q92835  
  • Name: Phosphatidylinositol 3,4,5 trisphosphate 5 phosphatase 1 (EC 3.1.3.86) (Inositol polyphosphate 5 phosphatase D) (EC 3.1.3.56) (Inositol polyphosphate 5 phosphatase of 145 kDa) (SIP 145) (Phosphatidylinositol 4,5 bisphosphate 5 phosphatase) (EC 3.1.3.36) (
  • Length: 1189  
  • Mass: 133292
  • Tissue specificity: Specifically expressed in immune and hematopoietic cells. Expressed in bone marrow and blood cells. Levels vary considerably within this compartment. Present in at least 74% of immature CD34+ cells, whereas within the more mature popul
• Sequence:

  MVPCWNHGNITRSKAEELLSRTGKDGSFLVRASESISRAYALCVLYRNCVYTYRILPNEDDKFTVQASEGVSMRF
  FTKLDQLIEFYKKENMGLVTHLQYPVPLEEEDTGDDPEEDTVESVVSPPELPPRNIPLTASSCEAKEVPFSNENP
  RATETSRPSLSETLFQRLQSMDTSGLPEEHLKAIQDYLSTQLAQDSEFVKTGSSSLPHLKKLTTLLCKELYGEVI
  RTLPSLESLQRLFDQQLSPGLRPRPQVPGEANPINMVSKLSQLTSLLSSIEDKVKALLHEGPESPHRPSLIPPVT
  FEVKAESLGIPQKMQLKVDVESGKLIIKKSKDGSEDKFYSHKKILQLIKSQKFLNKLVILVETEKEKILRKEYVF
  ADSKKREGFCQLLQQMKNKHSEQPEPDMITIFIGTWNMGNAPPPKKITSWFLSKGQGKTRDDSADYIPHDIYVIG
  TQEDPLSEKEWLEILKHSLQEITSVTFKTVAIHTLWNIRIVVLAKPEHENRISHICTDNVKTGIANTLGNKGAVG
  VSFMFNGTSLGFVNSHLTSGSEKKLRRNQNYMNILRFLALGDKKLSPFNITHRFTHLFWFGDLNYRVDLPTWEAE
  TIIQKIKQQQYADLLSHDQLLTERREQKVFLHFEEEEITFAPTYRFERLTRDKYAYTKQKATGMKYNLPSWCDRV
  LWKSYPLVHVVCQSYGSTSDIMTSDHSPVFATFEAGVTSQFVSKNGPGTVDSQGQIEFLRCYATLKTKSQTKFYL
  EFHSSCLESFVKSQEGENEEGSEGELVVKFGETLPKLKPIISDPEYLLDQHILISIKSSDSDESYGEGCIALRLE
  ATETQLPIYTPLTHHGELTGHFQGEIKLQTSQGKTREKLYDFVKTERDESSGPKTLKSLTSHDPMKQWEVTSRAP
  PCSGSSITEIINPNYMGVGPFGPPMPLHVKQTLSPDQQPTAWSYDQPPKDSPLGPCRGESPPTPPGQPPISPKKF
  LPSTANRGLPPRTQESRPSDLGKNAGDTLPQEDLPLTKPEMFENPLYGSLSSFPKPAPRKDQESPKMPRKEPPPC
  PEPGILSPSIVLTKAQEADRGEGPGKQVPAPRLRSFTCSSSAEGRAAGGDKSQGKPKTPVSSQAPVPAKRPIKPS
  RSEINQQTPPTPTPRPPLPVKSPAVLHLQHSKGRDYRDNTELPHHGKHRPEEGPPGPLGRTAMQ

• Structural information:
  • Protein Domains: (5..10-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191"-)
  • Interpro: IPR036691  IPR005135  IPR000300  IPR000980  IPR036860  
  • Prosite: PS50001
  • PDB: 2YSX 6IBD
  • PDBsum: 2YSX 6IBD
  • STRING: ENSP00000405338
• Other Databases: GeneCards:  INPP5D  Malacards:  INPP5D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0004445	inositol-polyphosphate 5-phosphatase activity	TAS	molecular function
GO:0006796	phosphate-containing compound metabolic process	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0052659	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	IEA	molecular function
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA	molecular function
GO:0004445	inositol-polyphosphate 5-phosphatase activity	IEA	molecular function
GO:0052658	inositol-1,4,5-trisphosphate 5-phosphatase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	TAS	molecular function
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050869	negative regulation of B cell activation	IEA	biological process
GO:0045671	negative regulation of osteoclast differentiation	IEA	biological process
GO:0045656	negative regulation of monocyte differentiation	IEA	biological process
GO:0045648	positive regulation of erythrocyte differentiation	IEA	biological process
GO:0030889	negative regulation of B cell proliferation	IEA	biological process
GO:0030853	negative regulation of granulocyte differentiation	IEA	biological process
GO:0009968	negative regulation of signal transduction	IEA	biological process
GO:0008340	determination of adult lifespan	IEA	biological process
GO:0050777	negative regulation of immune response	IEA	biological process
GO:0045779	negative regulation of bone resorption	IEA	biological process
GO:0045659	negative regulation of neutrophil differentiation	IEA	biological process
GO:0045621	positive regulation of lymphocyte differentiation	IEA	biological process
GO:0045579	positive regulation of B cell differentiation	IEA	biological process
GO:0045409	negative regulation of interleukin-6 biosynthetic process	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016064	immunoglobulin mediated immune response	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa04666	Fc gamma R-mediated phagocytosis
hsa04662	B cell receptor signaling pathway
hsa00562	Inositol phosphate metabolism
hsa04664	Fc epsilon RI signaling pathway

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