• Gene id: 22876

Gene Summary

• Gene Symbol: INPP5F   Gene   UCSC   Ensembl
• Aliases: MSTP007, MSTPO47, SAC2, hSAC2
• Gene name: inositol polyphosphate-5-phosphatase F
• Alternate names: phosphatidylinositide phosphatase SAC2, Sac domain-containing inositol phosphatase 2, sac domain-containing phosphoinositide 4-phosphatase 2, sac domain-containing phosphoinositide 5-phosphatase 2,
• Gene location: 10q26.11 (119704394: 119830481)     Exons: 27     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternati
• OMIM: 609389

Protein Summary

• Protein general information: Q9Y2H2  
  • Name: Phosphatidylinositide phosphatase SAC2 (EC 3.1.3.25) (Inositol polyphosphate 5 phosphatase F) (Sac domain containing inositol phosphatase 2) (Sac domain containing phosphoinositide 4 phosphatase 2) (hSAC2)
  • Length: 1132  
  • Mass: 128407
  • Tissue specificity: Ubiquitous (PubMed
• Sequence:

  MELFQAKDHYILQQGERALWCSRRDGGLQLRPATDLLLAWNPICLGLVEGVIGKIQLHSDLPWWLILIRQKALVG
  KLPGDHEVCKVTKIAVLSLSEMEPQDLELELCKKHHFGINKPEKIIPSPDDSKFLLKTFTHIKSNVSAPNKKKVK
  ESKEKEKLERRLLEELLKMFMDSESFYYSLTYDLTNSVQRQSTGERDGRPLWQKVDDRFFWNKYMIQDLTEIGTP
  DVDFWIIPMIQGFVQIEELVVNYTESSDDEKSSPETPPQESTCVDDIHPRFLVALISRRSRHRAGMRYKRRGVDK
  NGNVANYVETEQLIHVHNHTLSFVQTRGSVPVFWSQVGYRYNPRPRLDRSEKETVAYFCAHFEEQLNIYKKQVII
  NLVDQAGREKIIGDAYLKQVLLFNNSHLTYVSFDFHEHCRGMKFENVQTLTDAIYDIILDMKWCWVDEAGVICKQ
  EGIFRVNCMDCLDRTNVVQAAIARVVMEQQLKKLGVMPPEQPLPVKCNRIYQIMWANNGDSISRQYAGTAALKGD
  FTRTGERKLAGVMKDGVNSANRYYLNRFKDAYRQAVIDLMQGIPVTEDLYSIFTKEKEHEALHKENQRSHQELIS
  QLLQSYMKLLLPDDEKFHGGWALIDCDPSLIDATHRDVDVLLLLSNSAYYVAYYDDEVDKVNQYQRLSLENLEKI
  EIGPEPTLFGKPKFSCMRLHYRYKEASGYFHTLRAVMRNPEEDGKDTLQCIAEMLQITKQAMGSDLPIIEKKLER
  KSSKPHEDIIGIRSQNQGSLAQGKNFLMSKFSSLNQKVKQTKSNVNIGNLRKLGNFTKPEMKVNFLKPNLKVNLW
  KSDSSLETMENTGVMDKVQAESDGDMSSDNDSYHSDEFLTNSKSDEDRQLANSLESVGPIDYVLPSCGIIASAPR
  LGSRSQSLSSTDSSVHAPSEITVAHGSGLGKGQESPLKKSPSAGDVHILTGFAKPMDIYCHRFVQDAQNKVTHLS
  ETRSVSQQASQERNQMTNQVSNETQSESTEQTPSRPSQLDVSLSATGPQFLSVEPAHSVASQKTPTSASSMLELE
  TGLHVTPSPSESSSSRAVSPFAKIRSSMVQVASITQAGLTHGINFAVSKVQKSPPEPEIINQVQQNELKKMFIQC
  QTRIIQI

• Structural information:
  • Protein Domains: (167..51-)
    (/note="SAC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00183-)
    (593..76-)
    (/note="hSac2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01127"-)
  • Interpro: IPR034753  IPR022158  IPR002013  
  • Prosite: PS51791 PS50275
  • PDB: 4XUU
  • PDBsum: 4XUU
  • STRING: ENSP00000354519
• Other Databases: GeneCards:  INPP5F  Malacards:  INPP5F

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034595	phosphatidylinositol phosphate 5-phosphatase activity	IDA	NOT|molecular function
GO:0034595	phosphatidylinositol phosphate 5-phosphatase activity	IDA	molecular function
GO:0034596	phosphatidylinositol phosphate 4-phosphatase activity	IDA	molecular function
GO:0005905	clathrin-coated pit	IDA	colocalizes with
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0001921	positive regulation of receptor recycling	IDA	biological process
GO:0045334	clathrin-coated endocytic vesicle	IBA	cellular component
GO:2001135	regulation of endocytic recycling	IBA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0043812	phosphatidylinositol-4-phosphate phosphatase activity	IBA	molecular function
GO:0005769	early endosome	IBA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0045334	clathrin-coated endocytic vesicle	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042532	negative regulation of tyrosine phosphorylation of STAT protein	IDA	biological process
GO:0005769	early endosome	IDA	cellular component
GO:2000145	regulation of cell motility	IMP	biological process
GO:0031161	phosphatidylinositol catabolic process	ISS	biological process
GO:0014898	cardiac muscle hypertrophy in response to stress	ISS	biological process
GO:0048015	phosphatidylinositol-mediated signaling	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:2001135	regulation of endocytic recycling	IMP	biological process
GO:0072583	clathrin-dependent endocytosis	ISS	biological process
GO:0042578	phosphoric ester hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0052834	inositol monophosphate phosphatase activity	IEA	molecular function
GO:0052832	inositol monophosphate 3-phosphatase activity	IEA	molecular function
GO:0052833	inositol monophosphate 4-phosphatase activity	IEA	molecular function
GO:0008934	inositol monophosphate 1-phosphatase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0031901	early endosome membrane	TAS	cellular component
GO:0034596	phosphatidylinositol phosphate 4-phosphatase activity	TAS	molecular function
GO:0033137	negative regulation of peptidyl-serine phosphorylation	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0014898	cardiac muscle hypertrophy in response to stress	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0031161	phosphatidylinositol catabolic process	IEA	biological process
GO:0034596	phosphatidylinositol phosphate 4-phosphatase activity	IEA	molecular function
GO:0045334	clathrin-coated endocytic vesicle	IEA	cellular component
GO:0048681	negative regulation of axon regeneration	IEA	biological process
GO:2000145	regulation of cell motility	IEA	biological process
GO:0051896	regulation of protein kinase B signaling	IEA	biological process
GO:0001921	positive regulation of receptor recycling	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IEA	biological process
GO:0052833	inositol monophosphate 4-phosphatase activity	IEA	molecular function
GO:0072583	clathrin-dependent endocytosis	IEA	biological process
GO:2001135	regulation of endocytic recycling	IEA	biological process
GO:0048681	negative regulation of axon regeneration	ISS	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq