INPP5K
Inositol polyphosphate 5-phosphatase K
Also known as: INP5K_HUMAN, SKIP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BT40
- Gene
- INPP5K
- Ensembl
- ENSG00000132376
- Chromosome
- 17
- Canonical length
- 448 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
OverviewNCBI Gene
This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Canonical amino-acid sequenceUniProt
448 residues, UniProt reviewed canonical sequence.
>Q9BT40|INPP5K
1 MSSRKLSGPK GRRLSIHVVT WNVASAAPPL DLSDLLQLNN RNLNLDIYVI GLQELNSGII
61 SLLSDAAFND SWSSFLMDVL SPLSFIKVSH VRMQGILLLV FAKYQHLPYI QILSTKSTPT
121 GLFGYWGNKG GVNICLKLYG YYVSIINCHL PPHISNNYQR LEHFDRILEM QNCEGRDIPN
181 ILDHDLIIWF GDMNFRIEDF GLHFVRESIK NRCYGGLWEK DQLSIAKKHD PLLREFQEGR
241 LLFPPTYKFD RNSNDYDTSE KKRKPAWTDR ILWRLKRQPC AGPDTPIPPA SHFSLSLRGY
301 SSHMTYGISD HKPVSGTFDL ELKPLVSAPL IVLMPEDLWT VENDMMVSYS STSDFPSSPW
361 DWIGLYKVGL RDVNDYVSYA WVGDSKVSCS DNLNQVYIDI SNIPTTEDEF LLCYYSNSLR
421 SVVGISRPFQ IPPGSLREDP LGEAQPQILocalizationUniProt · AlphaFold · HPA
Whether an antibody against INPP5K can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 138 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 138 nTPM
- skeletal muscle: 42 nTPM
- adipose tissue: 38 nTPM
- skin: 33 nTPM
- bone marrow: 33 nTPM
- thyroid gland: 33 nTPM
Single-cell type
- retinal pigment epithelial cells: 929 nCPM
- late spermatids: 612 nCPM
- early spermatids: 125 nCPM
- neutrophils: 86 nCPM
- esophageal apical cells: 71 nCPM
- enterocytes: 59 nCPM
Immune cell
- basophil: 105 nTPM
- T-reg: 75 nTPM
- neutrophil: 75 nTPM
- eosinophil: 75 nTPM
- non-classical monocyte: 67 nTPM
- total PBMC: 63 nTPM
Brain region
- choroid plexus: 101 nTPM
- hippocampal formation: 34 nTPM
- midbrain: 28 nTPM
- thalamus: 28 nTPM
- medulla oblongata: 28 nTPM
- pons: 28 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about INPP5K.
Disease | AllUniProt
Conditions INPP5K is implicated in, by any mechanism.
- Muscular dystrophy, congenital, with cataracts and impaired intellectual development (MDCCAID) MIM:617404
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 174 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital muscular dystrophy with cataracts and intellectual disability
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.79
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.6
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin cytoskeleton organization
- cellular response to cAMP
- cellular response to epidermal growth factor stimulus
- cellular response to hormone stimulus
- cellular response to insulin stimulus
- cellular response to tumor necrosis factor
- G protein-coupled receptor signaling pathway
- glucose homeostasis
- host-mediated suppression of viral transcription
- in utero embryonic development
- negative regulation of calcium ion transport
- negative regulation of D-glucose transmembrane transport
- negative regulation of dephosphorylation
- negative regulation of DNA-templated transcription
- negative regulation of glycogen biosynthetic process
- negative regulation of insulin receptor signaling pathway
- negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- negative regulation of protein targeting to membrane
- negative regulation of single stranded viral RNA replication via double stranded DNA intermediate
- negative regulation of stress fiber assembly
- phosphatidylinositol biosynthetic process
- phosphatidylinositol dephosphorylation
- positive regulation of DNA-templated transcription
- positive regulation of urine volume
- protein localization to plasma membrane
- regulation of glycogen biosynthetic process
- ruffle assembly
- positive regulation of renal water transport
Molecular functions
- inositol bisphosphate phosphatase activity
- inositol trisphosphate phosphatase activity
- inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity
- inositol-1,4,5-trisphosphate 5-phosphatase activity
- lipid phosphatase activity
- phosphatidylinositol phosphate 5-phosphatase activity
- phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity
- phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
- vasopressin receptor activity
- phosphatidylinositol trisphosphate phosphatase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of INPP5K in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads INPP5K as an antibody target. Whether an autoantibody or antibody against INPP5K could matter depends on whether native INPP5K is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
INPP5K is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label INPP5K as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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