INPP5J (inositol polyphosphate-5-phosphatase J)

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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 27124
• Gene name: Inositol polyphosphate-5-phosphatase J
• Gene symbol: INPP5J
• Synonyms (NCBI Gene): INPP5, PIB5PA, PIPP
• Chromosome: 22
• Chromosome location: 22q12.2

miRNA Show/Hide all (54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004238	hsa-miR-346	Microarray	16822819
MIRT030023	hsa-miR-26b-5p	Microarray	19088304
MIRT1067455	hsa-miR-1827	CLIP-seq
MIRT1067456	hsa-miR-3665	CLIP-seq
MIRT1067457	hsa-miR-4736	CLIP-seq
MIRT1067458	hsa-miR-764	CLIP-seq
MIRT1067459	hsa-miR-940	CLIP-seq
MIRT2016373	hsa-miR-1207-3p	CLIP-seq
MIRT2016374	hsa-miR-15a	CLIP-seq
MIRT2016375	hsa-miR-15b	CLIP-seq
MIRT2016376	hsa-miR-16	CLIP-seq
MIRT2016377	hsa-miR-195	CLIP-seq
MIRT2016378	hsa-miR-214	CLIP-seq
MIRT2016379	hsa-miR-3135b	CLIP-seq
MIRT2016380	hsa-miR-3619-5p	CLIP-seq
MIRT2016381	hsa-miR-424	CLIP-seq
MIRT2016382	hsa-miR-4722-5p	CLIP-seq
MIRT2016383	hsa-miR-4768-3p	CLIP-seq
MIRT2016384	hsa-miR-497	CLIP-seq
MIRT2016385	hsa-miR-761	CLIP-seq
MIRT2016386	hsa-miR-765	CLIP-seq
MIRT2248626	hsa-miR-128	CLIP-seq
MIRT1067455	hsa-miR-1827	CLIP-seq
MIRT2248627	hsa-miR-27a	CLIP-seq
MIRT2248628	hsa-miR-27b	CLIP-seq
MIRT2248629	hsa-miR-3169	CLIP-seq
MIRT1067456	hsa-miR-3665	CLIP-seq
MIRT2248630	hsa-miR-4327	CLIP-seq
MIRT2248631	hsa-miR-4417	CLIP-seq
MIRT1067457	hsa-miR-4736	CLIP-seq
MIRT2248632	hsa-miR-4755-3p	CLIP-seq
MIRT2248633	hsa-miR-518a-5p	CLIP-seq
MIRT2248634	hsa-miR-527	CLIP-seq
MIRT2248635	hsa-miR-541	CLIP-seq
MIRT2248636	hsa-miR-654-5p	CLIP-seq
MIRT1067459	hsa-miR-940	CLIP-seq
MIRT2552160	hsa-miR-1293	CLIP-seq
MIRT2552161	hsa-miR-2861	CLIP-seq
MIRT2552162	hsa-miR-3151	CLIP-seq
MIRT2552163	hsa-miR-4283	CLIP-seq
MIRT2552164	hsa-miR-4483	CLIP-seq
MIRT2552165	hsa-miR-4488	CLIP-seq
MIRT2552166	hsa-miR-4489	CLIP-seq
MIRT2552167	hsa-miR-4697-5p	CLIP-seq
MIRT2552168	hsa-miR-661	CLIP-seq
MIRT2552160	hsa-miR-1293	CLIP-seq
MIRT2552161	hsa-miR-2861	CLIP-seq
MIRT2552162	hsa-miR-3151	CLIP-seq
MIRT2552163	hsa-miR-4283	CLIP-seq
MIRT2552164	hsa-miR-4483	CLIP-seq
MIRT2552165	hsa-miR-4488	CLIP-seq
MIRT2552166	hsa-miR-4489	CLIP-seq
MIRT2552167	hsa-miR-4697-5p	CLIP-seq
MIRT2552168	hsa-miR-661	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	23443536

Gene ontology (GO) Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IBA
GO:0001726	Component	Ruffle	IDA	12536145
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA
GO:0004445	Function	Inositol-polyphosphate 5-phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005737	Component	Cytoplasm	IDA	12536145
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0030426	Component	Growth cone	IEA
GO:0031115	Process	Negative regulation of microtubule polymerization	IBA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IBA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	TAS
GO:0043005	Component	Neuron projection	IBA
GO:0043198	Component	Dendritic shaft	IEA
GO:0043647	Process	Inositol phosphate metabolic process	TAS
GO:0046030	Function	Inositol trisphosphate phosphatase activity	IBA
GO:0046486	Process	Glycerolipid metabolic process	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0052658	Function	Inositol-1,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0052658	Function	Inositol-1,4,5-trisphosphate 5-phosphatase activity	TAS
GO:0052659	Function	Inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	IEA
GO:0120025	Component	Plasma membrane bounded cell projection	IEA

Other IDs

• MIM: 606481
• HGNC: 8956
• e!Ensembl: ENSG00000185133

Protein

• UniProt ID: Q15735
• Protein name: Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A (EC 3.1.3.36) (Inositol polyphosphate 5-phosphatase J) (Phosphatidylinositol 1,3,4,5-tetrakisphosphate 5-phosphatase) (EC 3.1.3.56) (Phosphatidylinositol 1,4,5-trisphosphate 5-phosphatase) (EC 3.1.3.56
• Protein function: Inositol 5-phosphatase, which converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate. Also converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-tr
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03372	Exo_endo_phos	428 → 721	Endonuclease/Exonuclease/phosphatase family	Domain
  PF17751	SKICH	741 → 839	SKICH domain	Domain

• Sequence:

  MEGQSSRGSRRPGTRAGLGSLPMPQGVAQTGAPSKVDSSFQLPAKKNAALGPSEPRLALA
  PVGPRAAMSASSEGPRLALASPRPILAPLCTPEGQKTATAHRSSSLAPTSVGQLVMSASA
  GPKPPPATTGSVLAPTSLGLVMPASAGPRSPPVTLGPNLAPTSRDQKQEPPASVGPKPTL
  AASGLSLALASEEQPPELPSTPSPVPSPVLSPTQEQALAPASTASGAASVGQTSARKRDA
  PAPRPLPASEGHLQPPAQTSGPTGSPPCIQTSPDPRLSPSFRARPEALHSSPEDPVLPRP
  PQTLPLDVGQGPSEPGTHSPGLLSPTFRPGAPSGQTVPPPLPKPPRSPSRSPSHSPNRSP
  CVPPAPDMALPRLGTQSTGPGRCLSPNLQAQEAPAPVTTSSSTSTLSSSPWSAQPTWKSD
  PGFRITVVTWNVGTAMPPDDVTSLLHLGGGDDSDGADMIAIGLQEVNSMLNKRLKDALFT
  DQWSELFMDALGPFNFVLVSSVRMQGVILLLFAKYYHLPFLRDVQTDCTRTGLGGYWGNK
  GGVSVRLAAFGHMLCFLNCHLPAHMDKAEQRKDNFQTILSLQQFQGPGAQGILDHDLVFW
  FGDLNFRIESYDLHFVKFAIDSDQLHQLWEKDQLNMAKNTWPILKGFQEGPLNFAPTFKF
  DVGTNKYDTSAKKRKPAWTDRILWKVKAPGGGPSPSGRKSHRLQVTQHSYRSHMEYTVSD
  HKPVAAQFLLQFAFRDDMPLVRLEVADEWVRPEQAVVRYRMETVFARSSWDWIGLYRVGF
  RHCKDYVAYVWAKHEDVDGNTYQVTFSEESLPKGHGDFILGYYSHNHSILIGITEPFQIS
  LPSSELASSSTDSSGTSSEGEDDSTLELLAPKSRSPSPGKSKRHRSRSPGLARFPGLALR
  PSSRERRGASRSPSPQSRRLSRVAPDRSSNGSSRGSSEEGPSGLPGPWAFPPAVPRSLGL
  LPALRLETVDPGGGGSWGPDREALAPNSLSPSPQGHRGLEEGGLGP

• Sequence length: 1006

Pathways

KEGG Pathway	Reactome Pathway
Inositol phosphate metabolism	Synthesis of PIPs at the plasma membrane
Metabolic pathways	Synthesis of IP2, IP, and Ins in the cytosol
	Synthesis of IP3 and IP4 in the cytosol

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	26267533		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26267533		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28550454		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SYNJ1 4 shared pathwaysInositol phosphate metabolism, Synthesis of IP3 and IP4 in the cytosol, Synthesis of PIPs at the plasma membrane, Synthesis of IP2, IP, and Ins in the cytosol Related via 4 shared pathways including Inositol phosphate metabolism, Synthesis of IP3 and IP4 in the cytosol. PLCH1 2 shared pathwaysInositol phosphate metabolism, Synthesis of IP3 and IP4 in the cytosol Related via 2 shared pathways including Inositol phosphate metabolism, Synthesis of IP3 and IP4 in the cytosol. INPP4A 3 shared pathwaysInositol phosphate metabolism, Synthesis of PIPs at the plasma membrane, Synthesis of IP2, IP, and Ins in the cytosol Related via 3 shared pathways including Inositol phosphate metabolism, Synthesis of PIPs at the plasma membrane. INPP5B 3 shared pathwaysInositol phosphate metabolism, Synthesis of IP3 and IP4 in the cytosol, Synthesis of IP2, IP, and Ins in the cytosol Related via 3 shared pathways including Inositol phosphate metabolism, Synthesis of IP3 and IP4 in the cytosol. ISYNA1 2 shared pathwaysInositol phosphate metabolism, Synthesis of IP2, IP, and Ins in the cytosol Related via 2 shared pathways including Inositol phosphate metabolism, Synthesis of IP2, IP, and Ins in the cytosol.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SYNJ1	0	[]	4	["Inositol phosphate metabolism","Synthesis of IP3 and IP4 in the cytosol","Synthesis of PIPs at the plasma membrane","Synthesis of IP2, IP, and Ins in the cytosol"]	0	[]
PLCH1	0	[]	2	["Inositol phosphate metabolism","Synthesis of IP3 and IP4 in the cytosol"]	0	[]
INPP4A	0	[]	3	["Inositol phosphate metabolism","Synthesis of PIPs at the plasma membrane","Synthesis of IP2, IP, and Ins in the cytosol"]	0	[]
INPP5B	0	[]	3	["Inositol phosphate metabolism","Synthesis of IP3 and IP4 in the cytosol","Synthesis of IP2, IP, and Ins in the cytosol"]	0	[]
ISYNA1	0	[]	2	["Inositol phosphate metabolism","Synthesis of IP2, IP, and Ins in the cytosol"]	0	[]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 3 of 5 related genesSYNJ1, PLCH1, INPP5B Basal cell carcinoma Linked via 3 of 5 related genesSYNJ1, INPP4A, INPP5B Colorectal cancer Linked via 2 of 5 related genesPLCH1, INPP5B Juvenile parkinsonism Linked via 1 of 5 related genesSYNJ1 Developmental and epileptic encephalopathy Linked via 1 of 5 related genesSYNJ1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	3	["SYNJ1","PLCH1","INPP5B"]
Basal cell carcinoma	3	["SYNJ1","INPP4A","INPP5B"]
Colorectal cancer	2	["PLCH1","INPP5B"]
Juvenile parkinsonism	1	["SYNJ1"]
Developmental and epileptic encephalopathy	1	["SYNJ1"]