Seroatlas · Human Serome Atlas

INPP5E

Phosphatidylinositol polyphosphate 5-phosphatase type IV

Also known as: CORS1, INP5E_HUMAN, JBTS1, pharbin, PPI5PIV

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9NRR6
Gene
INPP5E
Ensembl
ENSG00000148384
Chromosome
9
Canonical length
644 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Golgi apparatus,Focal adhesion sites

OverviewNCBI Gene

The protein encoded by this gene is an 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. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

644 residues, UniProt reviewed canonical sequence.

>Q9NRR6|INPP5E
     1  MPSKAENLRP SEPAPQPPEG RTLQGQLPGA PPAQRAGSPP DAPGSESPAL ACSTPATPSG
    61  EDPPARAAPI APRPPARPRL ERALSLDDKG WRRRRFRGSQ EDLEARNGTS PSRGSVQSEG
   121  PGAPAHSCSP PCLSTSLQEI PKSRGVLSSE RGSPSSGGNP LSGVASSSPN LPHRDAAVAG
   181  SSPRLPSLLP PRPPPALSLD IASDSLRTAN KVDSDLADYK LRAQPLLVRA HSSLGPGRPR
   241  SPLACDDCSL RSAKSSFSLL APIRSKDVRS RSYLEGSLLA SGALLGADEL ARYFPDRNVA
   301  LFVATWNMQG QKELPPSLDE FLLPAEADYA QDLYVIGVQE GCSDRREWET RLQETLGPHY
   361  VLLSSAAHGV LYMSLFIRRD LIWFCSEVEC STVTTRIVSQ IKTKGALGIS FTFFGTSFLF
   421  ITSHFTSGDG KVAERLLDYT RTVQALVLPR NVPDTNPYRS SAADVTTRFD EVFWFGDFNF
   481  RLSGGRTVVD ALLCQGLVVD VPALLQHDQL IREMRKGSIF KGFQEPDIHF LPSYKFDIGK
   541  DTYDSTSKQR TPSYTDRVLY RSRHKGDICP VSYSSCPGIK TSDHRPVYGL FRVKVRPGRD
   601  NIPLAAGKFD RELYLLGIKR RISKEIQRQQ ALQSQNSSTI CSVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against INPP5E 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.45
Highest tissue expression
22 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 22 nTPM
  • spleen: 20 nTPM
  • testis: 20 nTPM
  • cerebral cortex: 17 nTPM
  • ovary: 16 nTPM
  • fallopian tube: 16 nTPM

Single-cell type

  • fallopian tube ciliated cells: 27 nCPM
  • ependymal cells: 21 nCPM
  • respiratory ciliated cells: 20 nCPM
  • astrocytes: 19 nCPM
  • bergmann glia: 17 nCPM
  • differentiating spermatogonia: 15 nCPM

Immune cell

  • memory B-cell: 0.7 nTPM
  • T-reg: 0.7 nTPM
  • memory CD4 T-cell: 0.6 nTPM
  • eosinophil: 0.5 nTPM
  • gdT-cell: 0.5 nTPM
  • memory CD8 T-cell: 0.4 nTPM

Brain region

  • cerebral cortex: 32 nTPM
  • pons: 27 nTPM
  • cerebellum: 27 nTPM
  • medulla oblongata: 27 nTPM
  • amygdala: 26 nTPM
  • thalamus: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about INPP5E.

Disease | AllUniProt

Conditions INPP5E is implicated in, by any mechanism.

  • Joubert syndrome 1 (JBTS1) MIM:213300
  • Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis (MORMS) MIM:610156

Disease | GeneticClinVar

79 pathogenic / likely-pathogenic of 944 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.68
gnomAD pLI
0
gnomAD missense Z
0.51
DepMap mean gene effect
0.04
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of INPP5E 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 INPP5E as an antibody target. Whether an autoantibody or antibody against INPP5E could matter depends on whether native INPP5E is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

INPP5E is annotated at the cell surface, where native INPP5E is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label INPP5E as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/INPP5E. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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