Human Gene INPP5A (ENST00000368594.8_3) from GENCODE V45lift37
  Description: Homo sapiens inositol polyphosphate-5-phosphatase A (INPP5A), transcript variant 1, mRNA. (from RefSeq NM_005539)
RefSeq Summary (NM_005539): The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000368594.8_3
Gencode Gene: ENSG00000068383.19_7
Transcript (Including UTRs)
   Position: hg19 chr10:134,351,291-134,596,984 Size: 245,694 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr10:134,351,601-134,595,445 Size: 243,845 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2024-04-24 11:59:55

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:134,351,291-134,596,984)mRNA (may differ from genome)Protein (412 aa)
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GeneNetworkHGNCMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: I5P1_HUMAN
DESCRIPTION: RecName: Full=Inositol polyphosphate-5-phosphatase A; EC=3.1.3.56 ; AltName: Full=43 kDa inositol polyphosphate 5-phosphatase ; AltName: Full=Type I inositol 1,4,5-trisphosphate 5-phosphatase ; Short=5PTase ; Flags: Precursor;
FUNCTION: Phosphatase that specifically hydrolyzes the 5-phosphate of inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate, and inositol 1,3,4,5-tetrasphosphate to inositol 1,3,4-trisphosphate (PubMed:8013665, PubMed:8769125, PubMed:8626616). Plays a crucial role in the survival of cerebellar Purkinje cells (By similarity).
CATALYTIC ACTIVITY: Reaction=1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate; Xref=Rhea:RHEA:19797, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58282, ChEBI:CHEBI:203600; EC=3.1.3.56; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19798; Evidence=;
CATALYTIC ACTIVITY: Reaction=1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo- inositol 1,3,4-trisphosphate + phosphate; Xref=Rhea:RHEA:11392, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57895, ChEBI:CHEBI:58414; EC=3.1.3.56; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11393; Evidence=;
SUBUNIT: Interacts with TASOR.
INTERACTION: Q14642; P08567: PLEK; NbExp=4; IntAct=EBI-8670520, EBI-2565501; Q14642; Q15562-2: TEAD2; NbExp=3; IntAct=EBI-8670520, EBI-9370956;
SUBCELLULAR LOCATION: Cell membrane ipid-anchor ll projection, dendrite
TISSUE SPECIFICITY: Predominantly expressed in heart, brain, and skeletal muscle (PubMed:8006039). In brain; high level in Purkinje cells (PubMed:8013665).
PTM: Isoprenylation at Cys-409 is required for localization at the membrane.
SIMILARITY: Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type I family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.17 RPKM in Artery - Tibial
Total median expression: 579.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -190.60310-0.615 Picture PostScript Text
3' UTR -449.901451-0.310 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR036691 - Endo/exonu/phosph_ase_sf
IPR039737 - INPP5A
IPR000300 - IPPc

ModBase Predicted Comparative 3D Structure on Q14642
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004445 inositol-polyphosphate 5-phosphatase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0042731 PH domain binding
GO:0052658 inositol-1,4,5-trisphosphate 5-phosphatase activity
GO:0052659 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity

Biological Process:
GO:0043647 inositol phosphate metabolic process
GO:0046855 inositol phosphate dephosphorylation
GO:0046856 phosphatidylinositol dephosphorylation
GO:0048016 inositol phosphate-mediated signaling

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC096280 - Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa, mRNA (cDNA clone MGC:116947 IMAGE:40006844), complete cds.
BC096281 - Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa, mRNA (cDNA clone MGC:116949 IMAGE:40006846), complete cds.
BC117515 - Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa, mRNA (cDNA clone IMAGE:40006845), complete cds.
AF273055 - Homo sapiens CTCL tumor antigen HD-CL-02 mRNA, complete cds.
X77567 - H.sapiens mRNA for InsP3 5-phosphatase.
KJ891481 - Synthetic construct Homo sapiens clone ccsbBroadEn_00875 INPP5A gene, encodes complete protein.
AB527555 - Synthetic construct DNA, clone: pF1KB6613, Homo sapiens INPP5A gene for inositol polyphosphate-5-phosphatase, 40kDa, without stop codon, in Flexi system.
Z31695 - H.sapiens mRNA for 43 kDa inositol polyphosphate 5-phosphatase.
BC052265 - Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa, mRNA (cDNA clone IMAGE:6579207), partial cds.
BC062300 - Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa, mRNA (cDNA clone IMAGE:6579184), partial cds.
JD301814 - Sequence 282838 from Patent EP1572962.
JD316390 - Sequence 297414 from Patent EP1572962.
JD190561 - Sequence 171585 from Patent EP1572962.
JD450989 - Sequence 432013 from Patent EP1572962.
JD103661 - Sequence 84685 from Patent EP1572962.
JD392507 - Sequence 373531 from Patent EP1572962.
JD495062 - Sequence 476086 from Patent EP1572962.
JD409803 - Sequence 390827 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6358 - superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
PWY-6362 - 1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
PWY-6363 - D-myo-inositol (1,4,5)-trisphosphate degradation
PWY-6364 - D-myo-inositol (1,3,4)-trisphosphate biosynthesis
PWY-6371 - superpathway of inositol phosphate compounds

Reactome (by CSHL, EBI, and GO)

Protein Q14642 (Reactome details) participates in the following event(s):

R-HSA-1855222 I(1,4,5)P3 is dephosphorylated to I(1,4)P2 by INPP5A/B at the plasma membrane
R-HSA-1855183 Synthesis of IP2, IP, and Ins in the cytosol
R-HSA-1483249 Inositol phosphate metabolism
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: D3DXI3, ENST00000368594.1, ENST00000368594.2, ENST00000368594.3, ENST00000368594.4, ENST00000368594.5, ENST00000368594.6, ENST00000368594.7, I5P1_HUMAN, NM_005539, Q14640, Q14642, Q5JSF1, uc318gwo.1
UCSC ID: ENST00000368594.8_3
RefSeq Accession: NM_005539
Protein: Q14642 (aka I5P1_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.