• Gene id: 3631

Gene Summary

• Gene Symbol: INPP4A   Gene   UCSC   Ensembl
• Aliases: INPP4, TVAS1
• Gene name: inositol polyphosphate-4-phosphatase type I A
• Alternate names: inositol polyphosphate-4-phosphatase type I A, inositol polyphosphate-4-phosphatase, type I, 107kD, inositol polyphosphate-4-phosphatase, type I, 107kDa, type I inositol 3,4-bisphosphate 4-phosphatase,
• Gene location: 2q11.2 (98444537: 98594391)     Exons: 36     NC_000002.12
• Gene summary(Entrez): This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding disti
• OMIM: 600916

Protein Summary

• Protein general information: Q96PE3  
  • Name: Inositol polyphosphate 4 phosphatase type I A (Inositol polyphosphate 4 phosphatase type I) (Type I inositol 3,4 bisphosphate 4 phosphatase) (EC 3.1.3.66)
  • Length: 977  
  • Mass: 109956
  • Tissue specificity: Isoform 1 is expressed in the platelets, MEG-01 megakaryocytes and Jurkat T-cells. Isoform 2 is expressed in the brain. {ECO
• Sequence:

  MTAREHSPRHGARARAMQRASTIDVAADMLGLSLAGNIQDPDEPILEFSLACSELHTPSLDRKPNSFVAVSVTTP
  PQAFWTKHAQTEIIEGTNNPIFLSSIAFFQDSLINQMTQVKLSVYDVKDRSQGTMYLLGSGTFIVKDLLQDRHHR
  LHLTLRSAESDRVGNITVIGWQMEEKSDQRPPVTRSVDTVNGRMVLPVDESLTEALGIRSKYASLRKDTLLKSVF
  GGAICRMYRFPTTDGNHLRILEQMAESVLSLHVPRQFVKLLLEEDAARVCELEELGELSPCWESLRRQIVTQYQT
  IILTYQENLTDLHQYRGPSFKASSLKADKKLEFVPTNLHIQRMRVQDDGGSDQNYDIVTIGAPAAHCQGFKSGGL
  RKKLHKFEETKKHFEECCTSSGCQSIIYIPQDVVRAKEIIAQINTLKTQVSYYAERLSRAAKDRSATGLERTLAI
  LADKTRQLVTVCDCKLLANSIHGLNAARPDYIASKASPTSTEEEQVMLRNDQDTLMARWTGRNSRSSLQVDWHEE
  EWEKVWLNVDKSLECIIQRVDKLLQKERLHGEGCEDVFPCAGSCTSKKGNPDSHAYWIRPEDPFCDVPSSPCPST
  MPSTACHPHLTTHCSPPPEESSPGEWSEALYPLLTTLTDCVAMMSDKAKKAMVFLLMQDSAPTIATYLSLQYRRD
  VVFCQTLTALICGFIIKLRNCLHDDGFLRQLYTIGLLAQFESLLSTYGEELAMLEDMSLGIMDLRNVTFKVTQAT
  SSASADMLPVITGNRDGFNVRVPLPGPLFDALPREIQSGMLLRVQPVLFNVGINEQQTLAERFGDTSLQEVINVE
  SLVRLNSYFEQFKEVLPEDCLPRSRSQTCLPELLRFLGQNVHARKNKNVDILWQAAEICRRLNGVRFTSCKSAKD
  RTAMSVTLEQCLILQHEHGMAPQVFTQALECMRSEGCRRENTMKNVGSRKYAFNSLQLKAFPKHYRPPEGTYGKV
  ET

• Structural information:
  • Protein Domains: (26..15-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR035892  IPR039034  
  • Prosite: PS50004
  • STRING: ENSP00000074304
• Other Databases: GeneCards:  INPP4A  Malacards:  INPP4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016316	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016316	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0034597	phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	IEA	molecular function
GO:0016316	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	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:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0031901	early endosome membrane	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process

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